Literature DB >> 12161603

The phenotype of survivors of campomelic dysplasia.

S Mansour, A C Offiah, S McDowall, P Sim, J Tolmie, C Hall.   

Abstract

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Mesh：

Year:  2002        PMID： 12161603      PMCID： PMC1735206          DOI： 10.1136/jmg.39.8.597

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  24 in total

1.  Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia.

Authors:  Adetutu T Egunsola; Yangjin Bae; Ming-Ming Jiang; David S Liu; Yuqing Chen-Evenson; Terry Bertin; Shan Chen; James T Lu; Lisette Nevarez; Nurit Magal; Annick Raas-Rothschild; Eric C Swindell; Daniel H Cohn; Richard A Gibbs; Philippe M Campeau; Mordechai Shohat; Brendan H Lee
Journal:  J Clin Invest       Date:  2017-03-06       Impact factor: 14.808

2.  Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia.

Authors:  Katherine L Hill-Harfe; Lee Kaplan; Heather J Stalker; Roberto T Zori; Ramona Pop; Gerd Scherer; Margaret R Wallace
Journal:  Am J Hum Genet       Date:  2005-04       Impact factor: 11.025

3.  SOX9 keeps growth plates and articular cartilage healthy by inhibiting chondrocyte dedifferentiation/osteoblastic redifferentiation.

Authors:  Abdul Haseeb; Ranjan Kc; Marco Angelozzi; Charles de Charleroy; Danielle Rux; Robert J Tower; Lutian Yao; Renata Pellegrino da Silva; Maurizio Pacifici; Ling Qin; Véronique Lefebvre
Journal:  Proc Natl Acad Sci U S A       Date:  2021-02-23       Impact factor: 11.205

4.  Absent pedicles in campomelic dysplasia.

Authors:  Michael M McDowell; Ozgur Dede; Patrick Bosch; Elizabeth C Tyler-Kabara
Journal:  Childs Nerv Syst       Date:  2017-04-26       Impact factor: 1.475

5.  Clinical Utility Gene Card for: campomelic dysplasia.

Authors:  Gerd Scherer; Bernhard Zabel; Gen Nishimura
Journal:  Eur J Hum Genet       Date:  2012-10-10       Impact factor: 4.246

Review 6.  SOXopathies: Growing Family of Developmental Disorders Due to SOX Mutations.

Authors:  Marco Angelozzi; Véronique Lefebvre
Journal:  Trends Genet       Date:  2019-07-06       Impact factor: 11.639

7.  Mild Campomelic Dysplasia: Report on a Case and Review.

Authors:  S Corbani; E Chouery; B Eid; N Jalkh; J Abou Ghoch; A Mégarbané
Journal:  Mol Syndromol       Date:  2011-01-10

8.  Expression profiling of zebrafish sox9 mutants reveals that Sox9 is required for retinal differentiation.

Authors:  Hayato Yokoi; Yi-Lin Yan; Michael R Miller; Ruth A BreMiller; Julian M Catchen; Eric A Johnson; John H Postlethwait
Journal:  Dev Biol       Date:  2009-01-13       Impact factor: 3.582

9.  Mutations in the human TBX4 gene cause small patella syndrome.

Authors:  Ernie M H F Bongers; Pascal H G Duijf; Sylvia E M van Beersum; Jeroen Schoots; Albert Van Kampen; Andreas Burckhardt; Ben C J Hamel; Frantisek Losan; Lies H Hoefsloot; Helger G Yntema; Nine V A M Knoers; Hans van Bokhoven
Journal:  Am J Hum Genet       Date:  2004-04-21       Impact factor: 11.025

10.  Congenital cervical instability in a patient with camptomelic dysplasia.

Authors:  Gregory P Lekovic; Harold L Rekate; Curtis A Dickman; Margaret Pearson
Journal:  Childs Nerv Syst       Date:  2006-03-23       Impact factor: 1.475
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