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Supplements to Menard & Shipek 1958 (1958)

Menard, HW ; Shipek, CJ

Nature Publishing Group

In: EPIC3London, United Kingdom, Nature Publishing Group

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Publikationsdatum: 2016-01-19

Repository-Name: EPIC Alfred Wegener Institut

Materialart: PANGAEA Documentation , notRev

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2

Digitale Medien

Tylosis oesophageal cancer mapped (1994)

Risk, J.M. ; Field, E.A. ; Field, J.K. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 319-321

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Sir — Palmoplantar keratoderma (PPK) is a complex group of hereditary syndromes, which have been classified into diffuse, punctate, and focal forms1 according to the pattern of hyperkeratosis on the palms and soles. Diffuse pal-moplantar keratodermas can be further sub-divided by the presence ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1294-319

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3

Digitale Medien

Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy (1994)

Weber, Bernhard H. F. ; Vogt, Gudrun ; Pruett, Ronald C. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 352-356

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The hereditary macular dystrophies are progressive degenerations of the central retina and contribute significantly to irreversible visual loss in developed countries. Among these disorders, Sorsby's fundus dystrophy (SFD), an autosomal dominant condition, provides an excellent mendelian model for ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1294-352

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4

Digitale Medien

A 300 kilobase interval genetic map of rice including 883 expressed sequences (1994)

Kurata, N. ; Nagamura, Y. ; Yamamoto, K. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 365-372

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We have constructed a high resolution rice genetic map containing 1,383 DNA markers at an average interval of 300 kilobases (kb). The markers, distributed along 1,575 cM on 12 linkage groups, comprise 883 cDNAs, 265 genomic DNAs, 147 randomly amplified polymorphic DNAs (RAPD) and 88 other DNAs. ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1294-365

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5

Digitale Medien

Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families (1994)

Friedman, Lori S. ; Ostermeyer, Elizabeth A. ; Szabo, Csilla I. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 399-404

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We provide genetic evidence supporting the identity of the candidate gene for BRCA1 through the characterization of germline mutations in 63 breast cancer patients and 10 ovarian cancer patients in ten families with cancer linked to chromosome 17q21. Nine different mutations were detected by ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1294-399

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6

Digitale Medien

Corrigendum: Frequent somatic mutations and homozygous deletions of the p16 (MTS1) gene in pancreatic adenocarcinoma (1994)

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 410-410

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Carlos Caldas, Stephan A. Harm, Luis T. da Costa, Mark S. Redston, Mieke Schutte, Albert B. Seymour, Craig L. Weinstein, Ralph H. Hruban, Charles J. Yeo & Scott E. Kern Nature Genetics 8, 27–32 (1994) In Fig. 2, the labels for the lanes “Panel” and “CFPAC1”were ...

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URL: http://dx.doi.org/10.1038/ng1294-410c

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7

Digitale Medien

Genome linkage scanning: systematic or intelligent? (1994)

Antonarakis, Stylianos E.

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 211-212

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The availability of highly informative DNA polymorphic markers now permits the localization of any monogenic phenotype to a precise region of the human genome. The mapping of a disease gene is, in turn, a prerequisite for its positional cloning, the prediction of the corresponding protein, and for ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1194-211

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8

Digitale Medien

Screening for truncated NF1 proteins (1994)

Heim, Ruth A. ; Silverman, Lawrence M. ; Farber, Rosann A. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 218-219

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Sir—Theneurofibromatosis 1 (NF1) gene, cloned in 1990 (ref. 1-3), spans approximately 350 kilobases (kb) of genomic DNA, encodes an mRNA of 11–13 kb, and contains at least 56 exons4. The large size of the gene has made mutation detection difficult using traditional techniques such as ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1194-218

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9

Digitale Medien

PBDX is the XG blood group gene (1994)

Ellis, Nathan A. ; Tippett, Patricia ; Petty, Alison ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 285-290

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We have identified the Xga antigen, encoded by the XG blood group gene, by employing rabbit polyclonal and mouse monoclonal antibodies raised against a peptide derived from the N-terminal domain of a candidate gene, referred to earlier as PBDX. In indirect haemagglutination assays, these ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1194-285

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10

Digitale Medien

The glittering prize (1994)

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 105-106

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] In the words of the front-page report in The New York Times announcing the discovery, it was ‘a genetic trophy so ferociously coveted and loudly heralded that it had taken on a near-mythic aura’1. It was the culmination of a research race that took four agonizing years to complete, ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1094-105

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11

Digitale Medien

Ion channel Shake -down (1994)

Ptáček, Louis

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 111-112

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Voltage-gated potassium channels constitute a family of highly related proteins that are involved in a wide variety of biological processes including modulating electrical signals in neurons and muscle. They share significant similarities with voltage-gated sodium and calcium channels; the genes ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1094-111

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12

Digitale Medien

The Sjögren-Larsson Syndrome gene is close to D17S805 as determined by linkage analysis and allelic association (1994)

Pigg, Maritta ; Jagell, Sten ; Sillén, Anna ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 361-364

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Sjögren-Larsson Syndrome (SLS) is characterized by congenital ichthyosis, spastic di- or tetraplegia and mental retardation. It is an autosomal recessive trait that is frequent in the northern part of Sweden. Based on linkage analysis and allelic association, the disorder has now been mapped ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1294-361

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13

Digitale Medien

Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer (1994)

Castilla, Lucio H. ; Couch, Fergus J. ; Erdos, Michael R. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 387-391

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We analysed 50 probands with a family history of breast and/or ovarian cancer for germline mutations in the coding region of the BRCA1 candidate gene, using single-strand conformation polymorphism (SSCP) analysis on PCR-amplified genomic DNA. A total of eight putative disease-causing alterations ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1294-387

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14

Digitale Medien

Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer (1994)

Hemminki, Akseli ; Peltomäki, Päivi ; Mecklin, Jukka-Pekka ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 405-410

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The mechanism by which germline mutations of DNA mismatch repair genes cause susceptibility to tumour formation is not yet understood. Studies in vitro indicate that heterozygosity for these mutations, unlike homozygosity, does not affect mismatch repair. Surprisingly, no loss of heterozygosity at ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1294-405

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15

Digitale Medien

Co-factor insufficiency in Dystonia-Parkinsonian syndrome (1994)

Ozelius, Laurie J. ; Breakefield, Xandra O.

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 207-208

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] On page 229 of this issue, Ichinose et al.1 provide strong evidence for the identification of the first causative gene for an inherited dystonia, termed hereditary progressive dystonia (HPD) or dopa-responsive dystonia (DRD). Dystonia refers to a heterogeneous group of movement disorders of unknown ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1194-207

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16

Digitale Medien

Age of the ΔF508 cystic fibrosis mutation (1994)

Kaplan, N. L. ; Lewis, P. O. ; Weir, B. S.

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 216-216

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Sir—In a recent Nature Genetics paper, Morral et al. suggested that the ΔF508 mutation, responsible for 70% of the cases of cystic fibrosis (CF), is at least 2,600 generations old. This is far greater than the usually accepted figure of a few hundred generations2. Morral et al. ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1194-216a

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17

Digitale Medien

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1 (1994)

Kawaguchi, Yoshiya ; Okamoto, Toshihiro ; Taniwaki, Masafumi ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 221-228

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We have identified a novel gene containing CAG repeats and mapped it to chromosome 14q32.1, the genetic locus for Machado-Joseph disease (MJD). In normal individuals the gene contains between 13 and 36 CAG repeats, whereas most of the clinically diagnosed patients and all of the affected members of ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1194-221

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18

Digitale Medien

Germline p16 mutations in familial melanoma (1994)

Hussussian, Christopher J. ; Struewing, Jeffery P. ; Goldstein, Alisa M. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 15-21

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The p16 gene is located in chromosome 9p21, a region that is linked to familial melanoma and homozygously deleted in many tumour cell lines. We describe eight p16 germline substitutions (one nonsense, one splice donor site and six missense) in 13/18 familial melanoma kindreds. Six of these ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0994-15

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19

Digitale Medien

Reply to “RFLVs in mottled dappled alleles” (1994)

Levinson, B. ; Vulpe, C. ; Elder, B. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 12-12

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Levinson et al. reply — We have performed Southern blot analysis of DNA from the Modp mutant and the PT strain, kindly provided by Drs Reed and Boyd, and find an identical pattern, thereby supporting their conclusions. Our misinterpretation stemmed from our difficulty in determining the exact ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0994-12

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20

Digitale Medien

A mixed message for cystic fibrosis gene therapy (1994)

Alton, Eric ; Geddes, Duncan

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 8-9

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The paper by Crystal and colleagues on page 42 of this issue1 marks an important step in the progress of human gene therapy trials for cystic fibrosis (CF). It describes the first attempt at transferring the CF gene to the lower airways of CF patients, and highlights three key features of current ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0994-8

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21

Digitale Medien

Administration of an adenovirus containing the human CFTR cDNA to the respiratory tract of individuals with cystic fibrosis (1994)

Crystal, Ronald G. ; McElvaney, Noel G. ; Rosenfeld, Melissa A. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 42-51

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We have administered a recombinant adenovirus vector (AdCFTR) containing the normal human CFTR cDNA to the nasal and bronchial epithelium of four individuals with cystic fibrosis (CF). We show that this vector can express the CFTR cDNA in the CF respiratory epithelium in vivo. With doses up to 2 ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0994-42

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22

Digitale Medien

A radiation hybrid map of 506 STS markers spanning human chromosome 11 (1994)

James, M.R. ; Richard, C.W. ; Schott, J.-J. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 70-76

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We present a high resolution radiation hybrid map of human chromosome 11 using 506 sequence tagged sites (STSs) scored on a panel of 86 radiation hybrids. The 506 STSs fall into 299 unique positions (average resolution of about 480 kilobases (kb)) that span the whole chromosome. A subset of 260 ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0994-70

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23

Digitale Medien

Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4 (1994)

Polymeropoulos, Mihael H. ; Swift, Ronnie Gorman ; Swift, Michael

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 95-97

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Wolfram syndrome is an autosomal recessive disorder defined by the occurrence of diabetes mellitus and progressive bilateral optic atrophy. Wolfram syndrome homozygotes develop widespread nervous system abnormalities; in particular, they exhibit severe behavioural difficulties that often lead to ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0994-95

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24

Digitale Medien

Chromosome cleared (1994)

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 450-450

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] In last month's editorial (Vol. 7, 341–342; 1994), a recessive form of polycystic kidney disease was said to map to chromosome 1. This should, of course, have read chromosome 6. We apologize for any confusion this might have ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0894-450

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25

Digitale Medien

Mitochondrial diabetes revisited (1994)

Ballinger, Scott W. ; Shoffner, John M. ; Gebhart, Susan ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 458-459

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Sir—In the inaugural issue of Nature Genetics, we demonstrated that adult-onset diabetes mellitus (type II or DM) together with deafness can be caused by a 10.4 kilobase maternally transmitted mitochondrial DNA (mtDNA) deletion1. Subsequently, maternally-transmitted DM and deafness has been ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0894-458

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26

Digitale Medien

Bipolar disorder and linkage to Xq28 (1994)

Gershon, Elliot S. ; Goldin, Lynn R.

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 461-462

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Sir — Although a letter by our colleagues Bochetta et al.2 is entitled “Is bipolar disorder linked to Xq28?”, no statistical evidence on linkage is presented. A Table is offered of G6PD deficiency in psychiatric patients in Sardinia, where males with bipolar disorder have 20.8% ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0894-461b

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27

Digitale Medien

Analysis of the p16 gene ( CDKN2 ) as a candidate for the chromosome 9p melanoma susceptibility locus (1994)

Kamb, A. ; Shattuck-Eidens, D. ; Eeles, R. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 22-26

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] A locus for familial melanoma, MLM, has been mapped within the same interval on chromosome 9p21 as the gene for a putative cell cycle regulator, p16INK4 (CDKN2) MTS1. This gene is homozygously deleted from many tumour cell lines including melanomas, suggesting that CDKN2 is a good candidate for ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0994-22

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28

Digitale Medien

Neomorphic agouti mutations in obese yellow mice (1994)

Duhl, David M. J. ; Vrieling, Harry ; Miller, Kimberly A. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 59-65

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Several dominant mutations of the mouse agouti coat colour gene have pleiotropic effects that include obesity and a yellow coat. The Ay allele is caused by a large deletion that affects the expression of several contiguous genes. We show that three other obesity-associated agouti mutations, Aiy, ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0994-59

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29

Digitale Medien

A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal (1994)

Bardoni, B. ; Zanaria, E. ; Guioli, S. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 497-501

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Male to female sex reversal has been observed in individuals with duplications of the short arm of the X chromosome. Here we demonstrate that sex reversal results from the presence of two active copies of an Xp locus rather than from its rearrangement and that alterations at this locus constitute ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0894-497

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Identification of mutations in the α3(IV) and α4(IV) collagen genes in autosomal recessive Alport syndrome (1994)

Mochizuki, Toshio ; Lemmink, Henny H. ; Mariyama, Mariko ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 77-82

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Alport syndrome (AS) is an hereditary disease of basement membranes characterized by progressive renal failure and deafness. Changes in the glomerular basement membrane (GBM) in AS suggest that the type IV collagen matrix, the major structural component of GBM, is disrupted. We recently isolated ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0994-77

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An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21 (1994)

Aaltonen, Johanna ; Björses, Petra ; Sandkuijl, Lodewijk ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 83-87

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Autoimmune polyglandular disease type I (APECED) is an autosomal recessive autoimmune disease characterized by a variable combination of the failure of the endocrine glands. The pathogenesis of this unique autoimmune disease is unknown; unlike many other autoimmune diseases, APECED does not show ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0994-83

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Genome centre comes together (1994)

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 115-116

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Just off Convent Drive in Bethesda, Maryland, a sort of spiritual transformation is taking place in Building 49 on the sprawling campus of the National Institutes of Health (NIH) that has nothing to do with the well-publicized religious beliefs of one of its best-known inhabitants, Dr Francis ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0694-115

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The rumpshaker mutation in spastic paraplegia (1994)

Kobayashi, Hisashi ; Hoffman, Eric P. ; Marks, Harold G.

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 351-352

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Sir — X-linked recessive spastic paraplegia (SPG) is a rare neuro-degenerative disorder characterized by progressive weakness and spasticity of the lower extremities. Two distinct loci for X-linked SPG, SPG1 and SPG2, have been mapped to Xq28 and Xq21–q22, respectively1,2. SPG1 is ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0794-351

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The distribution of CpG islands in mammalian chromosomes (1994)

Craig, Jeffrey M. ; Bickmore, Wendy A.

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 376-382

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Using fluorescent in situ suppression hybridization to metaphase chromosomes, we have directly shown that CpG islands are predominantly found in the early replicating (R band) regions of the genome. Conversely, late replicating (G band) DNA is sparsely populated with islands. The very highest ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0794-376

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Chromosome–specific microsatellite sets for fluorescence–based, semi–automated genome mapping (1994)

Reed, P. W. ; Davies, J. L. ; Copeman, J. B. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 390-395

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] To facilitate large–scale genetic mapping of the human genome, we have developed chromosome–specific sets of microsatellite marker loci suitable for use with a fluorescence–based automated DNA fragment analyser. We present 254 dinucleotide repeat marker loci (80% from the ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0794-390

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Epigenetic lesions at the H19 locus in Wilms' tumour patients (1994)

Moulton, Thomas ; Crenshaw, Taria ; Hao, Yue ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 440-447

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] To test the potential role of H19 as a tumour suppressor gene we have examined its expression and DNA methylation in Wilms' tumours (WTs). In most WTs (18/25), H19 RNA was reduced at least 20–fold from fetal kidney levels. Of the expression–negative tumours ten retained 11p15.5 ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0794-440

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A genetic map of the mouse with 4,006 simple sequence length polymorphisms (1994)

Dietrich, William F. ; Miller, Joyce C. ; Steen, Robert G. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 220-245

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We have constructed a genetic map of the mouse genome containing 4,006 simple sequence length polymorphims (SSLPs). The map provides an average spacing of 0.35 centiMorgans (cM) between markers, corresponding to about 750 kb. Approximately 90% of the genome lies within 1.1 cM of a marker and 99% ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0694supp-220

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The 1993–94 Généthon human genetic linkage map (1994)

Gyapay, Gabor ; Morissette, Jean ; Vignal, Alain ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 246-339

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] In 1992, we described a second-generation genetic linkage map of the human genome. Using 1,267 new microsatellite markers, we now present a new genetic linkage map containing a total of 2,066 (AC)n short tandem repeats, 60% of which show a heterozygosity of over 0.7. Statistical linkage analysis ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0694supp-246

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Growing triplet repeats (1994)

Lindblad, K. ; Zander, C. ; Schalling, M. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 124-124

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Sir — The discovery of expanding CAG and CGG repeats in several inherited psychomotor disorders has provided a molecular explanation of the phenomena of anticipation and other unusual inheritance patterns1. Trinucleotide expansions have been identified in seven disorders including ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0694-124

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Prime suspect for cystic kidneys (1994)

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 341-342

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The number of disease genes on the most wanted list has lost another notable member. And not before time. For the past ten years, there has been an intensive international effort to find the gene responsible for autosomal dominant (or adult) polycystic kidney disease (ADPKD) which has nevertheless ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0794-341

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Gene therapy for cholesterol (1994)

Brown, Michael S. ; Goldstein, Joseph L. ; Havel, Richard J. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 349-350

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Sir — In view of the recent interest in liver-targeted gene therapy of familial hypercholesterolaemia (FH), as described in the April issue of Nature Genetics by James Wilson and colleagues1, and the likelihood that additional experiments will be performed, we wish to propose minimal criteria ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0794-349

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Inactivation of E2a in recombinant adenoviruses improves the prospect for gene therapy in cystic fibrosis (1994)

Yang, Yiping ; Nunes, Frederick A. ; Berencsi, Klara ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 362-369

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Although first generation recombinant adenoviruses, deleted of sequences spanning E1a and E1b, have been useful for in vivo applications of gene therapy, expression of the recombinant gene has been transient and often associated with the development of inflammation. We show that with first ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0794-362

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Human haploinsufficiency : one for sorrow, two for joy (1994)

Fisher, Elizabeth ; Scambler, Peter

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 5-7

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Abnormal gene dosage is a common cause of spontaneous abortion and human birth defects. The best known examples are caused by chromosomal trisomy — such as Down syndrome (trisomy 21) — in which the precise effect of increased dosage on the development of the human embryo is difficult to ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0594-5

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Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12 (1994)

Engle, Elizabeth C. ; Kunkel, Louis M. ; Specht, Linda A. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 69-73

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Congenital Fibrosis of the Extraocular Muscles (CFEOM) is an autosomal dominant, ocular disorder characterized by congenital, nonprogressive, bilateral ptosis and external ophthalmoplegia. The pathophysiology of this disorder is unknown and it is unclear if it has a primary neurogenic or myopathic ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0594-69

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Mutations of the VHL tumour suppressor gene in renal carcinoma (1994)

Gnarra, J.R. ; Tory, K. ; Weng, Y. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 85-90

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Multiple, bilateral renal carcinomas are a frequent occurrence in von Hippel–Lindau (VHL) disease. To elucidate the aetiological role of the VHL gene in human kidney tumorigenesis, localized and advanced tumours from 110 patients with sporadic renal carcinoma were analysed for VHL mutations ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0594-85

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Corrigendum: Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31–33 (1994)

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 113-113

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] T. Toda, M. Segawa, Y. Nomura, I. Nonaka, K. Masuda, T. Ishihara, M. Sakai, I. Tomita, Y. Origuchi, K. Ohno, N. Misugi, Y. Sasaki, K. Takada, M. Kawai, K. Otani, T. Murakami, K. Saito, Y. Fukuyama, T. Shimizu, I. Kanazawa & Y. Nakamura Nature Genetics 5, 283–286 (1993) The authors wish ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0594-113a

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Simple purification of human chromosomes to homogeneity using muntjac hybrid cells (1994)

Lee, Jae-Yong ; Koi, Minoru ; Stanbridge, Eric J. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 29-33

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Chromosome sorting from hybrid cells offers enormous advantages for gene mapping and cloning, but purification of most chromosomes has been largely hindered by their similarity in size to other chromosomes. We have developed a novel cell line and strategy that allows simple, mass purification of ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0594-29

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Genomic sequence sampling: a strategy for high resolution sequence–based physical mapping of complex genomes (1994)

Smith, Michael W. ; Holmsen, Anita L. ; Wei, Yalin H. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 40-47

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We present a simple and efficient method for constructing high resolution physical maps of large regions of genomic DNA based upon sampled sequencing. The physical map is constructed by ordering high density cosmid contigs and determining a sequence fragment from each end of every clone. The ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0594-40

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Developmental changes in methylation of spermatogenesis–specific genes include reprogramming in the epididymis (1994)

Ariel, Mira ; Cedar, Howard ; McCarrey, John

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 59-63

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We have determined the status of DNA methylation at specific sites in three spermatogenesis–specific genes, Pgk–2, ApoA1 and Oct–3/4, throughout the development and differentiation of male germ cells in the mouse. We observed a specific demethylation event in the Pgk–2 gene ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0594-59

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Apolipoprotein E4 allele in a population–based study of early–onset Alzheimer's disease (1994)

van Duijn, Cornelia M. ; de Knijff, Peter ; Cruts, Marc ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 74-78

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Several studies have reported an association of the apolipoprotein E allele ε4 (APOE*4) to familial and sporadic late-onset Alzheimer's disease (LOAD). Here we report on the relationship between APOE*4 and early-onset Alzheimer's disease (EOAD) in a Dutch population-based study. The ...

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URL: http://dx.doi.org/10.1038/ng0594-74

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Altered imprinting in lung cancer (1994)

Suzuki, Hiroko ; Ueda, Ryuzo ; Takahashi, Toshitada ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 6 (1994), S. 332-333

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Sir — Genomic imprinting is defined as a gamete-specific modification causing differential expression of the two alleles of a gene in somatic cells. While paternal allele-specific expression was recently identified for the insulin-like growth factor 2 gene (IGF2) on 11pl5 (refs l–4), ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0494-332

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A mutation in the Ter gene causing increased susceptibility to testicular teratomas maps to mouse chromosome 18 (1994)

Asada, Yoshinobu ; Varnum, Don S. ; Frankel, Wayne N. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 6 (1994), S. 363-368

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Little is known about inherited susceptibility to spontaneous germ cells tumours in humans or other species. The Ter mutation in laboratory mice is novel in that it acts codominantly to reduce germ cell numbers on many inbred strain backgrounds and to enhance dramatically inherited predisposition ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0494-363

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Genetic steps in colorectal cancer (1994)

Bodmer, Walter ; Bishop, Tim ; Karran, Peter

[s.l.] : Nature Publishing Group

Nature genetics 6 (1994), S. 217-219

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Each cancer is the result of an independent evolutionary process at the somatic cell level, involving the usual mechanisms of mutation and selection but without the intervention of a sexual process. The accumulation of the successive mutations that result in a cancer must take place step-wise, with ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0394-217

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Purification of CpG islands using a methylated DNA binding column (1994)

Cross, Sally H. ; Charlton, Jillian A. ; Nan, Xinsheng ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 6 (1994), S. 236-244

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] CpG islands are short stretches of DNA containing a high density of non–methylated CpG dinucleotides, predominantly associated with coding regions. We have constructed an affinity matrix that contains the methyl–CpG binding domain from the rat chromosomal protein MeCP2, attached to a ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0394-236

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A complex bilateral polysyndactyly disease locus maps to chromosome 7q36 (1994)

Tsukurov, Olga ; Boehmer, Annemie ; Flynn, Jack ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 6 (1994), S. 282-286

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We demonstrate that the gene responsible for a congenital limb deformity (polysyndactyly) maps to chromosome 7q36 in a large family. Pre– and postaxial anomalies of the extremities are inherited in this family as an autosomal dominant trait. The disease locus is closely linked to D7S550 ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0394-282

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Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31–32 in three European families (1994)

Fontaine, B. ; Vale-Santos, J. ; Jurkat-Rott, K. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 6 (1994), S. 267-272

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Hypokalaemic periodic paralysis (HypoPP) is an autosomal dominant muscle disease thought to arise from an abnormal function of ion channels. Performing a genome–wide search using polymorphic dinucleotide repeats, we have localized the HypoPP locus in three families of different geographic ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0394-267

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Cystinuria defect expresses itself (1994)

Wright, Ernest M.

[s.l.] : Nature Publishing Group

Nature genetics 6 (1994), S. 328-329

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Cystinuria, a common inherited disorder, affects about 1 in 15,000 people in the United States and 1 in 2,000 in Europe. Cystinuria is caused by a renal cystine transport defect; each day the kidney filters 180 litres of plasma, and excretes 1.5 litres of amino-acid-free urine. A defect in the ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0494-328

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Proteolipid protein gene dosage effect in Pelizaeus–Merzbacher disease (1994)

Ellis, David ; Malcolm, Sue

[s.l.] : Nature Publishing Group

Nature genetics 6 (1994), S. 333-334

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Sir — Pelizaeus-Merzbacher disease (PMD) is a rare dysmyelinating disorder affecting the central nervous system (CNS), often attributable to mutations of the X-linked proteolipid protein (PLP) gene. We have found two cases where the affected boys have a duplication of PLP, suggesting that the ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0494-333

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Corrigendum: A gene for Stargardt's disease ( fundus flavimaculatus ) maps to the short arm of chromosome 1 (1994)

[s.l.] : Nature Publishing Group

Nature genetics 6 (1994), S. 214-214

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] J. Kaplan, S. Gerber, D. Larget-Piet, J.-M. Rozet, H. Dollnis, J.-L. Dufier, S. Odent, A. Postel-Vinay, N. Janin, M.-L. Briard, J. Fr£zal & A. Munnich Nature Genetics 5, 308–311 (1993) An incorrect version of Fig. 3 appeared in this paper. The correct figure is reproduced ...

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URL: http://dx.doi.org/10.1038/ng0294-214b

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Allele specificity of DNA replication timing in the Angelman/Prader–Willi syndrome imprinted chromosomal region (1994)

Knoll, Joan H.M. ; Cheng, Sou-De ; Lalande, Marc

[s.l.] : Nature Publishing Group

Nature genetics 6 (1994), S. 41-46

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] DNA replication within chromosome 15q11–q13, a region subject to genomic imprinting, was examined by fluorescence in situ hybridization. Asynchronous replication between homologues was observed in cells from normal individuals and in Prader–Willi (PWS) and Angelman syndrome (AS) ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0194-41

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Epidermal disease: faulty keratin filaments take their toll (1994)

Compton, John G.

[s.l.] : Nature Publishing Group

Nature genetics 6 (1994), S. 6-7

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The underlying defects of more and more human diseases are being discovered using the powerful tools of molecular genetics. While these discoveries fuel our hopes for better treatments and eventual cures, their most immediate impact is often the valuable, often revealing, insight into cell and ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0194-6

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The gene for achondroplasia maps to the telomeric region of chromosome 4p (1994)

Velinov, Milen ; Slaugenhaupt, Susan A. ; Stoilov, Ivaylo ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 6 (1994), S. 314-317

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Achondroplasia is the most common type of genetic dwarfism. It is characterized by disproportionate short stature and other skeletal anomalies resulting from a defect in the maturation of the chondrocytes in the growth plate of the cartilage. We have now mapped the achondroplasia gene near the ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0394-314

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Simple repeat DNA is not replicated simply (1994)

Richards, Robert I. ; Sutherland, Grant R.

[s.l.] : Nature Publishing Group

Nature genetics 6 (1994), S. 114-116

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Repeat sequences in complex genomes have had a checkered history. Before the introduction of recombinant DNA technology they were one of the few accessible and definable components of the genome. Although their function has been elusive, repeat sequences have become invaluable (by virtue of repeat ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0294-114

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The case for matching MHC genes in human organ transplantation (1993)

Martin, Susan ; Dyer, Philip A.

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 210-213

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Following Medawar's demonstration of the genetic basis to organ transplant rejection, early pioneers of human clinical organ transplantation attempted to ensure success either by transplanting between genetically identical individuals or by suppressing the vigorous host immune response. Genetic ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1193-210a

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Mitotic errors in trisomy 21 (1993)

Sensi, Alberto ; Ricci, Nicola

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 215-215

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Sir —In the paper by Antonarkais et al (Nature Genet. 3,146–150; 1993), it seems that about 5% of trisomy 21 (Down syndrome) cases are due to mitotic errors, as deduced from segregation of DNA polymorphic markers. This analysis, however, cannot detect a substantial proportion of ...

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URL: http://dx.doi.org/10.1038/ng1193-215a

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Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma (1993)

Galili, Naomi ; Davis, Richard J. ; Fredericks, William J. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 230-235

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We have examined the structure and expression of the products associated with the t(2;13)(q35;q14) translocation associated with alveolar rhabdomyosarcoma. The chromosome 13 gene (FKHR) is identified as a member of the fork head domain family of transcription factors characterized by a conserved ...

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URL: http://dx.doi.org/10.1038/ng1193-230

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Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I (1993)

Chung, Ming-yi ; Ranum, Laura P.W. ; Duvick, Lisa A. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 254-258

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Spinocerebellar ataxia type I (SCAI) is an autosomal dominant neurodegenerative disease caused by the expansion of a CAG trinucleotide repeat on chromosome 6p. Normal alleles range from 19–36 repeats while SCA1 alleles contain 43–81 repeats. We now show that in 63% of paternal ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1193-254

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A mutation in CFTR produces different phenotypes depending on chromosomal background (1993)

Kiesewetter, S. ; Macek, M. ; Davis, C. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 274-278

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene but the association between mutation (genotype) and disease presentation (phenotype) is not straightforward. We have been investigating whether variants in the CFTR gene that alter splicing ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1193-274

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Corrigendum: Tissue specific expression of FMR–1 provides evidence for a functional role in fragile X syndrome (1993)

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 312-312

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] H. L. Hinds, C. T. Ashley, J. S. Sutcliffe, D. L. Nelson, S. T. Warren, D. E. Housman & M. Schalling Nature Genetics 3, 36–43 (1993) In this paper the legend to Fig. 2 was omitted. The following legend should have been published with Fig. 2. Fig. 2 In situ RNA hybridization with ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1193-312b

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Homozygosity mapping: familiarity breeds debility (1993)

Farrall, Martin

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 107-108

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] That they bred in and in, as might be shown, Marrying their cousins — nay, their aunts, and nieces, Which always spoils the breed, if it increases. — From Don Juan by Lord Byron (Written 1818–1823) The genetic map locations of the human disease genes causing the Friedreich's ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1093-107

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A novel metalloprotease/disintegrin–like gene at 17q21.3 is somatically rearranged in two primary breast cancers (1993)

Emi, Mitsuru ; Katagiri, Toyomasa ; Harada, Yousuke ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 151-157

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] From chromosomal region 17q21.3, where a tumour suppressor gene(s) for breast and ovarian cancers is thought to be present, we have isolated a novel gene from a cosmid clone that revealed somatic rearrangements in two breast cancers. The gene (MDC) encodes a 524–amino acid ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1093-151

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De novo expansion of a (CAG) n repeat in sporadic Huntington's disease (1993)

Myers, R. H. ; MacDonald, M. E. ; Koroshetz, W. J. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 168-173

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Huntington's disease (HD) chromosomes contain an expanded unstable (CAG)n repeat in chromosome 4p16.3. We have examined nine families with potential de novo expression of the disease. With one exception, all of the affected individuals had 42 or more repeat units, well above the normal range. In ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1093-168

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Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2 (1993)

Pollak, Martin R. ; Wu Chou, Yah-Huei ; Cerda, James J. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 201-204

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Alkaptonuria, the first human disorder recognized by Garrod as an inborn error of metabolism, is a rare recessive condition that darkens urine and causes a debilitating arthritis termed ochronosis. We have studied two families with consanguineous parents and four affected children in order to map ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1093-201

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Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping (1993)

Ben Hamida, C. ; Doerflinger, N. ; Belal, S. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 195-200

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Friedreich ataxia and ataxia with selective vitamin E deficiency (AVED) share very similar clinical phenotypes. We have mapped the AVED locus to proximal 8q with only three large consanguinous Tunisian families, representing to our knowledge the first use of homozygosity mapping for primary linkage ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1093-195

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Linkage of Bardet–Biedl syndrome to chromosome 16q and evidence for non–allelic genetic heterogeneity (1993)

Kwitek-Black, Anne E. ; Carmi, Rivka ; Duyk, Geoffrey M. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 392-396

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Bardet–Biedl syndrome is an autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, polydactyly and hypogonadism. Other findings include hypertension, diabetes mellitus and renal and cardiovascular anomalies. We have performed a genome–wide ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1293-392

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Anticipation in spinocerebellar ataxia type 2 (1993)

Pulst, Stefan-M. ; Nechiporuk, Alex ; Starkman, Sid

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 8-10

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Spinocerebellar ataxias (SCAs) are characterized by a progressive degeneration of specific neurons of the cerebellar cortex, deep cerebellar nuclei, brain stem and spinal cord. Affected individuals suffer from severe ataxia, dysarthria and variable degrees of motor disturbance and neuropathy. The ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0993-8c

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Mapping the way ahead (1993)

Patterson, David

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 323-324

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] A major goal of genome mapping is the cloning of chromosomes as a collection of stable, easily manipulated, ordered, overlapping fragments that represent accurately the chromosome. Recently, Ilya Chumakov, Daniel Cohen and collaborators, at Généthon and elsewhere, reported1the ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0893-323

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Corrigendum: Introduction and expression of the 400 kilobase amyloid precursor protein gene in transgenic mice (1993)

[s.l.] : Nature Publishing Group

Nature genetics 5 (1993), S. 312-312

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] B. T. Lamb, S. S. Sisodia, A. M. Lawler, H. H. Slunt, C. A. Kitt, W. G. Kearns, P. L. Pearson, D. L. Price & J. D. Gearhart Nature Genetics 5, 22–30 (1993) An unfortunate transposition rendered the title of this paper incorrect. The correct title is that printed ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1193-312d

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Human and murine FMR-1 : alternative splicing and translational initiation downstream of the CGG–repeat (1993)

Ashley, Claude T. ; Sutcliffe, James S. ; Kunst, Catherine B. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 244-251

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Fragile X syndrome is associated with massive expansion of a CGG trinucleotjde repeat within the FMR–1 gene and transcriptional silencing of the gene due to abnormal methylation. Partial cDNA sequence of the human FMR–1 has been reported. We report here the isolation and ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0793-244

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Functional equivalence of human X– and Y–encoded isoforms of ribosomal protein S4 consistent with a role in Turner syndrome (1993)

Watanabe, Minoru ; Zinn, Andrew R. ; Page, David C. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 268-271

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Several genes are found on both the human X and Y chromosomes in regions that do not recombine during male meiosis. In each case, nucleotide sequence analysis suggests that these X–Y gene pairs encode similar but nonidentical proteins. Here we show that the human Y– and X–encoded ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0793-268

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Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafness (1993)

Prezant, Toni R. ; Agapian, John V. ; Bohlman, M. Charlotte ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 289-294

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Maternally transmitted non–syndromic deafness was described recently both in pedigrees with susceptibility to aminoglycoside ototoxicity and in a large Arab–Israeli pedigree. Because of the known action of aminoglycosides on bacterial ribosomes, we analysed the sequence of the ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0793-289

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Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11 (1993)

Carrier, L. ; Hengstenberg, C. ; Beckmann, J. S. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 311-313

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Familial hypertrophic cardiomyopathy (FHC) is a cardiac disorder transmitted as an autosomal dominant trait. FHC has been shown to be genetically heterogeneous with less than 50% of published pedigrees being associated with mutations in the p myosin heavy chain (β–MHC) gene on chromosome ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0793-311

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Direct gene transfer of human CFTR into human bronchial epithelia of xenografts with E1–deleted adenoviruses (1993)

Engelhardt, John F. ; Yang, Yiping ; Stratford-Perricaudet, Leslie D. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 27-34

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We describe the use of a human bronchial xenograft model for studying the efficiency and biology of in vivo gene transfer into human bronchial epithelia with recombinant E1 deleted adenoviruses. All cell types in the surface epithelium except basal cells efficiently expressed the adenoviral ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0593-27

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Collaboration, Canadian style (1993)

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 321-322

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Within scientific research, genetics — and in particular clinical molecular genetics —is as competitive a field as any. With a high level of public awareness feeding off the promise of a new age of predictive medicine, gene therapy and the unravelling of polygenic disorders, there is ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0893-321

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Huntington's disease: testing the test (1993)

Read, Andrew P.

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 329-330

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Now that the Huntington's disease (HD) mutation has proved to be yet another expanding trinucleotide repeat1, three questions demand an answer. What cellular mechanism makes these repeats unstable? How do expanded repeats cause disease? And finally, what are the implications for diagnosis of HD? ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0893-329

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EWS and ATF-1 gene fusion induced by t(12;22) translocation in malignant melanoma of soft parts (1993)

Zucman, Jessica ; Delattre, Olivier ; Desmaze, Chantal ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 341-345

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Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The genes involved in the t(12;22)(q13;q12) translocation found recurrently in malignant melanoma of soft parts have been characterized and shown to form, in four cases studied, hybrid transcripts. The deduced chimaeric protein encoded by the der(22) chromosome consists of the N–terminal ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0893-341

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87

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A Not l restriction map of the entire long arm of human chromosome 21 (1993)

Ichikawa, Hitoshi ; Hosoda, Fumie ; Arai, Yasuhito ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 361-366

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] A variety of maps of the human genome have been constructed, including cloned DNA maps. We have isolated 40 of the 42 Notl sites that exist on the long arm of human chromosome 21, as A Notl linking clones and constructed a complete Notl restriction map spanning the entire region. This map, which ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0893-361

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88

Digitale Medien

Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9 (1993)

Stapleton, Paula ; Weith, Andreas ; Urbánek, Pavel ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 3 (1993), S. 292-298

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] In the human paired box-containing (PAX) gene family, only two members, PAX-3 and PAX-6, which are associated with Waardenburg's syndrome and aniridia, respectively have been mapped to human chromosomes. We have now isolated cosmids for six additional human PAX genes (PAX-1,-2,-5,-7,-8,-9) and a ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0493-292

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89

Digitale Medien

Kniest and Stickler dysplasia phenotypes caused by collagen type II gene ( COL2A1 ) defect (1993)

Winterpacht, Andreas ; Hilbert, Matthias ; Schwarze, Ulrike ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 3 (1993), S. 323-326

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Kniest and Stickler dysplasia are two chondrodysplasias characterized by specific phenotypes. No basic defect has been found in patients with Kniest dysplasia, whereas Stickler dysplasia is one of four chondrodysplasias for which mutations of type II procollagen gene (COL2A1) have been identified. ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0493-323

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90

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Dystrophin expression in the human retina is required for normal function as defined by electroretinography (1993)

Pillers, De-Ann M. ; Bulman, Dennis E. ; Weleber, Richard G. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 82-86

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We have studied retinal function by electroretinography in five Becker and six Duchenne muscular dystrophy patients. All had abnormal electroretinograms with a markedly reduced amplitude for the b–wave in the dark–adapted state. Using three antisera raised to different domains of ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0593-82

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91

Digitale Medien

Lorenzo Odone (1993)

[s.l.] : Nature Publishing Group

Nature genetics 3 (1993), S. 276-276

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] In Nature Genetics 3, 95–96; February 1993, Lorenzo Odone (the boy suffering from adrenoleukodystrophy who is featured in the film Lorenzo's oil) was wrongly said to be in a “vegetative state”. On the contrary, his parents quote a teacher as saying that Lorenzo can see, hear and ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0493-276

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92

Digitale Medien

The expanded role of NF1 (1993)

Foulkes, William

[s.l.] : Nature Publishing Group

Nature genetics 3 (1993), S. 282-282

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Sir — I read with interest Bernd Seizinger's recent News and Views1 of the role in tumorigenesis of NF1, which is defective in neurofibro-matosis type 1. While there is clear evidence that NF1 is implicated in a wider variety of tumours than had been suspected from the analysis of NF1 ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0493-282b

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93

Digitale Medien

Clustered base substitutions in CTP synthetase conferring drug resistance in Chinese hamster ovary cells (1993)

Whelan, Jeremy ; Phear, Geraldine ; Yamauchi, Masatake ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 3 (1993), S. 317-322

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Dominantly acting mutations that eliminate the allosteric regulation of CTP synthetase confer a form of multidrug resistance and a mutator phenotype to cultured Chinese hamster ovary cells. Mutations responsible for this phenotype have been identified in 23 independent strains selected for ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0493-317

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94

Digitale Medien

Corrigendum: Allelic loss of chromosome 1p36 in neuroblastoma is of preferential maternal origin and correlates with N-myc amplification (1993)

[s.l.] : Nature Publishing Group

Nature genetics 4 (1993), S. 431-431

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] H. Caron, P. van Sluis, M. van Hoeve, J. de Kraker, J. Bras, R. Slater, M. Mannens, P.A.Voûte, A. Westerveld & R. Versteeg Nature Genetics 4, 187–190 (1993). Acknowledgements We thank V. Lauthier, M. Schwab and A. Weithfor making DNA probes available to us; we are grateful to J. ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0893-431a

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95

Digitale Medien

Corrigendum: Human genes containing polymorphic trinucleotide repeats (1993)

[s.l.] : Nature Publishing Group

Nature genetics 3 (1993), S. 273-273

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] G. J. Riggins, L. K. Lokey, J. L. Chastin, H. A. Leiner, S. L. Sherman, K. D. Wilkinson & S. T. Warren Nature Genetics 2,186–191 (1992) In this article the authors inadvertently referred to the gene GST1 (accession no. XI7644) as glutathione-S-transferase when, in fact, the sequence ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0393-273b

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96

Digitale Medien

Rearrangement of the PAX3 paired box gene in the paediatric solid tumour alveolar rhabdomyosarcoma (1993)

Barr, Frederic G. ; Galili, Naomi ; Holick, John ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 3 (1993), S. 113-117

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] We have determined that PAX3 (found previously to be mutated in Waardenburg syndrome) is the chromosome 2 locus rearranged by the t(2;13)(q35;q14) translocation of the paediatric solid tumour alveolar rhabdomyosarcoma. The rearrangement breakpoints occur within an intron downstream of the paired ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0293-113

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97

Digitale Medien

Are X–linked cutis laxa and Menkes disease allelic? (1993)

Levinson, Barbara ; Gitschier, Jane ; Vulpe, Christopher ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 3 (1993), S. 6-6

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Sir — X-linked cutis laxa, or the occipital horn syndrome, is a connective tissue disorder characterized by hyperelastic and bruisable skin, varicosities, hernias, bladder diverticula and skeletal abnormalities, including long bone and occipital exostoses1. Clinical and biochemical ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0193-6

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98

Digitale Medien

The molecular basis of the human serum paraoxonase activity polymorphism (1993)

Humbert, Richard ; Adler, David A. ; Disteche, Christine M. ; [weitere]

[s.l.] : Nature Publishing Group

Nature genetics 3 (1993), S. 73-76

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The organophosphate cholinesterase inhibitor paraoxon is hydrolysed by serum paraoxonase/arylesterase. A genetic polymorphism of paraoxonase (PON) activity which determines high versus low paraoxon hydrolysis in human populations, may determine sensitivity to parathion poisoning. We demonstrate ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng0193-73

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99

Digitale Medien

Editorial Corrigendum (1994)

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 309-309

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] Last month's editorial neglected to mention that Syd Mandelbaum, in association with Peter Kurth, arranged for Dr Mark Stoneking to analyse hair samples thought to be from the late Anna ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1294-309b

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100

Digitale Medien

New dimensions in macular dystrophies (1994)

Humphries, Peter ; Kenna, Paul ; Farrar, G. Jane

[s.l.] : Nature Publishing Group

Nature genetics 8 (1994), S. 315-317

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ISSN: 1546-1718

Quelle: Nature Archives 1869 - 2009

Thema: Biologie , Medizin

Notizen: [Auszug] The human retina is a delicate organ carrying between 150–200 million specialized neurons — the photo-receptors. Degenerative diseases of the retina and subretinal tissues, which may lead either directly or indirectly to photoreceptor cell death, are exceedingly prevalent and constitute ...

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1038/ng1294-315

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