Literature DB >> 23047745

Clinical Utility Gene Card for: campomelic dysplasia.

Gerd Scherer1, Bernhard Zabel, Gen Nishimura.   

Abstract

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Year:  2012        PMID： 23047745      PMCID： PMC3722939          DOI： 10.1038/ejhg.2012.228

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  20 in total

1.  Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region.

Authors:  D Pfeifer; R Kist; K Dewar; K Devon; E S Lander; B Birren; L Korniszewski; E Back; G Scherer
Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025

2.  The phenotype of survivors of campomelic dysplasia.

Authors:  S Mansour; A C Offiah; S McDowall; P Sim; J Tolmie; C Hall
Journal:  J Med Genet       Date:  2002-08       Impact factor: 6.318

3.  Screening of the 1 Mb SOX9 5' control region by array CGH identifies a large deletion in a case of campomelic dysplasia with XY sex reversal.

Authors:  R Pop; C Conz; K S Lindenberg; S Blesson; B Schmalenberger; S Briault; D Pfeifer; G Scherer
Journal:  J Med Genet       Date:  2004-04       Impact factor: 6.318

4.  Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development.

Authors:  Sabina Benko; Christopher T Gordon; Delphine Mallet; Rajini Sreenivasan; Christel Thauvin-Robinet; Atle Brendehaug; Sophie Thomas; Ove Bruland; Michel David; Marc Nicolino; Audrey Labalme; Damien Sanlaville; Patrick Callier; Valerie Malan; Frédéric Huet; Anders Molven; Frédérique Dijoud; Arnold Munnich; Laurence Faivre; Jeanne Amiel; Vincent Harley; Gunnar Houge; Yves Morel; Stanislas Lyonnet
Journal:  J Med Genet       Date:  2011-11-02       Impact factor: 6.318

5.  The treatment of progressive kyphoscoliosis in camptomelic dysplasia.

Authors:  S Thomas; R B Winter; J E Lonstein
Journal:  Spine (Phila Pa 1976)       Date:  1997-06-15       Impact factor: 3.468

6.  Campomelic syndrome and deletion of SOX9.

Authors:  P N Olney; L S Kean; D Graham; L J Elsas; K M May
Journal:  Am J Med Genet       Date:  1999-05-07

7.  Acampomelic campomelic dysplasia with SOX9 mutation.

Authors:  M K Thong; G Scherer; K Kozlowski; E Haan; L Morris
Journal:  Am J Med Genet       Date:  2000-08-28

8.  Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations.

Authors:  J Meyer; P Südbeck; M Held; T Wagner; M L Schmitz; F D Bricarelli; E Eggermont; U Friedrich; O A Haas; A Kobelt; J G Leroy; L Van Maldergem; E Michel; B Mitulla; R A Pfeiffer; A Schinzel; H Schmidt; G Scherer
Journal:  Hum Mol Genet       Date:  1997-01       Impact factor: 6.150

9.  Dimerization of SOX9 is required for chondrogenesis, but not for sex determination.

Authors:  Pascal Bernard; Paisu Tang; Siyuan Liu; Phoebe Dewing; Vincent R Harley; Eric Vilain
Journal:  Hum Mol Genet       Date:  2003-07-15       Impact factor: 6.150

10.  Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia.

Authors:  Elisabeth Sock; Roberta A Pagon; Kathelijn Keymolen; Willy Lissens; Michael Wegner; Gerd Scherer
Journal:  Hum Mol Genet       Date:  2003-06-15       Impact factor: 6.150
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  1 in total

1.  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
  1 in total

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