Language
English
German
^M
Dutch
Spanish
Title:
Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I
Source:
Nature Genetics [1061-4036] Momeni, Parastoo yr:2000
Basic
Full text
Full text available via
Nature
Year:
Volume:
Issue:
Start Page:
Document delivery
Request document via
Library/Bibliothek
Users interested in this article also expressed an interest in the following:
description
1.
Candamourty, R.
"Trichorhinophalangeal syndrome type 1: A case report with literature review."
Journal of Natural Science Biology and Medicine
3.2 (2012): 209-211.
description
2.
Horsthemke, P.
"Genes and chromosomal breakpoints in the Langer-Giedion syndrome region on human chromosome 8."
Human genetics
105.6 (1999): 619-628.
description
3.
MacEwen, K J D.
"Trichorhinophalangeal syndrome: evolution of Perthes-like changes in the hips."
Orthopedics
23.8 (2000): 855-6.
description
4.
Langer, L O O.
"The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome): four additional patients without mental retardation and review of the literature."
American journal of medical genetics
19.1 (1984): 81-112.
description
5.
Wagner, N.
"A novel Wilms' tumor 1 gene mutation in a child with severe renal dysfunction and persistent renal blastema."
Pediatric nephrology
(2008): 1445-53.
description
6.
Kuna, G B.
"Trichorhinophalangeal dysplasia (Giedion syndrome). A case report."
Clinical Pediatrics
(1978): 96-98.
description
7.
Nardmann, J.
"The tricho-rhino-phalangeal syndromes: frequency and parental origin of 8q deletions."
Human Genetics
99.5 (1997): 638-43.
description
8.
Goud, VA L.
"Pain, Physical and Social Functioning, and Quality of Life in Individuals with Multiple Hereditary Exostoses in the Netherlands."
Journal of Bone and Joint Surgery; American volume
94-A.11 (2012): 1013-1020.
description
9.
Pfeiffer, R A.
"Langer-Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8 46, XY, del 8 (q 13-22)."
Clinical genetics
(1980): 142-146.
description
10.
Giedion, A.
"Autosomal-dominant transmission of the tricho-rhino-phalangeal syndrome. Report of 4 unrelated families, review of 60 cases."
Helvetica paediatrica acta
28.3 (1973): 249-259.
description
11.
Dunbar, J D.
"Hip pathology in the trichorhinophalangeal syndrome."
Journal of pediatric orthopedics
15.3 (1995): 381-385.
description
12.
Murphy, R F.
"The case for compensation of tissue donors."
Archives of internal medicine
161.15 (2001): 1924-5.
description
13.
Noriaki Kikuchi et al, N.
"Trichorhinophalangeal syndrome type II without the chromosome 8 deletion that resembled metachondromatosis."
Congenital anomalies
47.3 (2007): 105-7.
description
14.
Fuentes, J.
"Genomic organization, alternative splicing, and expression patterns of the DSCR1 (Down syndrome candidate region 1) gene."
Genomics
44.3 (1997): 358-61.
description
15.
Nagai, T.
"Another family with tricho-rhino-phalangeal syndrome type III (Sugio-Kajii syndrome)."
American journal of medical genetics
(1994): 278-280.
description
16.
Giedion, A.
"Phalangeal cone-shaped epiphyses of the hand: their natural history, diagnostic sensitivity, and specificity in cartilage hair hypoplasia and the trichorhinophalangeal syndromes I and II."
Pediatric Radiology
1998. 751-758.
description
17.
Rockson, S G G.
"Lymphoscintigraphic manifestations of Hennekam syndrome--a case report."
Angiology
50.12 (1999): 1017-20.
description
18.
Sun, L.
"Zinc finger-mediated protein interactions modulate Ikaros activity, a molecular control of lymphocyte development."
The EMBO journal
15.19 (1996): 5358-5369.
description
19.
"Research Conducted at Department of Orthopaedic Surgery and Traumatology Has Provided New Information about Multiple Hereditary Exostoses (Surgical hip dislocation according to Ganz for excision of osteochondromas in patients with multiple ...)."
Medical Devices
(2016): 596-.
description
20.
DuBose, Cheryl O.
"Multiple Hereditary Exostoses."
Radiologic technology
87.3 (2016): 305-21.
View More...
View Less...
Select All
Clear All
Save Citations
Select Format
ProCite
EndNote
RefWorks
Reference Manager
Submit citation export
Advanced
Author
Other articles by this author? -- in
GeoRef
author:
Momeni, Parastoo
Glöckner, Gernot
Schmidt, Olaf
von Holtum, Diane
Albrecht, Beate
Gillessen Kaesbach, Gabriele
Hennekam, Raoul
Meinecke, Peter
Zabel, Bernhard
Rosenthal, André
Horsthemke, Bernhard
Lüdecke, Hermann-Josef
last name
initials
Other articles by this author? -- in
Online Contents Geosciences
author:
Momeni, Parastoo
Glöckner, Gernot
Schmidt, Olaf
von Holtum, Diane
Albrecht, Beate
Gillessen Kaesbach, Gabriele
Hennekam, Raoul
Meinecke, Peter
Zabel, Bernhard
Rosenthal, André
Horsthemke, Bernhard
Lüdecke, Hermann-Josef
last name
initials
Other articles by this author? -- using
Web of Science
author:
Momeni, Parastoo
Glöckner, Gernot
Schmidt, Olaf
von Holtum, Diane
Albrecht, Beate
Gillessen Kaesbach, Gabriele
Hennekam, Raoul
Meinecke, Peter
Zabel, Bernhard
Rosenthal, André
Horsthemke, Bernhard
Lüdecke, Hermann-Josef
last name
initials
Web Search
Find related information in
a Web Search Engine
Excite
Google
HotBot
Ixquick
ZOO
Ask
Yahoo!
Bing
Naver
Search Terms:
Search for related information in
Google Scholar
Article Title
Author Name
Journal Title
Other Search
Search Terms:
A service provided by the
Library of the Wissenschaftspark Albert Einstein
, Potsdam, Germany.
© 2005 SFX by Ex Libris Inc.