ALBERT — All Library Books, journals and Electronic Records Telegrafenberg

1

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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2

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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3

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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4

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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5

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 ...

Materialart: Digitale Medien

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

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6

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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7

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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8

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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9

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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10

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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