Literature DB >> 7719329

Craniofacial syndromes: no such thing as a single gene disease.

J J Mulvihill.   

Abstract

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Year:  1995        PMID： 7719329     DOI： 10.1038/ng0295-101

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  11 in total

1.  In search of triallelism in Bardet-Biedl syndrome.

Authors:  Leen Abu-Safieh; Shamsa Al-Anazi; Lama Al-Abdi; Mais Hashem; Hisham Alkuraya; Mushari Alamr; Mugtaba O Sirelkhatim; Zuhair Al-Hassnan; Basim Alkuraya; Jawahir Y Mohamed; Ahmad Al-Salem; May Alrashed; Eissa Faqeih; Ameen Softah; Amal Al-Hashem; Sami Wali; Zuhair Rahbeeni; Moeen Alsayed; Arif O Khan; Lihadh Al-Gazali; Peter E M Taschner; Selwa Al-Hazzaa; Fowzan S Alkuraya
Journal:  Eur J Hum Genet       Date:  2012-02-22       Impact factor: 4.246

2.  Diagnosing Friedreich's ataxia.

Authors:  N W Wood
Journal:  Arch Dis Child       Date:  1998-03       Impact factor: 3.791

3.  Growing interest in overgrowth.

Authors:  T Cole
Journal:  Arch Dis Child       Date:  1998-03       Impact factor: 3.791

4.  The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon.

Authors:  S J Edwards; A J Gladwin; M J Dixon
Journal:  Am J Hum Genet       Date:  1997-03       Impact factor: 11.025

5.  Of worms and men: an evolutionary perspective on the fibroblast growth factor (FGF) and FGF receptor families.

Authors:  F Coulier; P Pontarotti; R Roubin; H Hartung; M Goldfarb; D Birnbaum
Journal:  J Mol Evol       Date:  1997-01       Impact factor: 2.395

6.  Chimeras of the native form or achondroplasia mutant (G375C) of human fibroblast growth factor receptor 3 induce ligand-dependent differentiation of PC12 cells.

Authors:  L M Thompson; S Raffioni; J J Wasmuth; R A Bradshaw
Journal:  Mol Cell Biol       Date:  1997-07       Impact factor: 4.272

7.  Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis.

Authors:  L Chen; R Adar; X Yang; E O Monsonego; C Li; P V Hauschka; A Yayon; C X Deng
Journal:  J Clin Invest       Date:  1999-12       Impact factor: 14.808

8.  Soluble dominant-negative receptor uncovers essential roles for fibroblast growth factors in multi-organ induction and patterning.

Authors:  G Celli; W J LaRochelle; S Mackem; R Sharp; G Merlino
Journal:  EMBO J       Date:  1998-03-16       Impact factor: 11.598

9.  Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.

Authors:  W J Park; C Theda; N E Maestri; G A Meyers; J S Fryburg; C Dufresne; M M Cohen; E W Jabs
Journal:  Am J Hum Genet       Date:  1995-08       Impact factor: 11.025

Review 10.  The new dysmorphology: application of insights from basic developmental biology to the understanding of human birth defects.

Authors:  C J Epstein
Journal:  Proc Natl Acad Sci U S A       Date:  1995-09-12       Impact factor: 11.205
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