Literature DB >> 9452058

Mutation analysis of the SOX9 gene in a patient with campomelic dysplasia.

R M Hageman1, F J Cameron, A H Sinclair.   

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Year:  1998        PMID： 9452058     DOI： 10.1002/humu.1380110137

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  4 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.  Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia.

Authors:  Gopalrao V N Velagaleti; Gabriel A Bien-Willner; Jill K Northup; Lillian H Lockhart; Judy C Hawkins; Syed M Jalal; Marjorie Withers; James R Lupski; Pawel Stankiewicz
Journal:  Am J Hum Genet       Date:  2005-02-22       Impact factor: 11.025

3.  A homozygous nonsense mutation in SOX9 in the dominant disorder campomelic dysplasia: a case of mitotic gene conversion.

Authors:  Ramona Pop; Michael V Zaragoza; Mara Gaudette; Ulrike Dohrmann; Gerd Scherer
Journal:  Hum Genet       Date:  2005-04-02       Impact factor: 4.132

4.  Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations.

Authors:  Kevin C Knower; Sabine Kelly; Louisa M Ludbrook; Stefan Bagheri-Fam; Helena Sim; Pascal Bernard; Ryohei Sekido; Robin Lovell-Badge; Vincent R Harley
Journal:  PLoS One       Date:  2011-03-11       Impact factor: 3.240
  4 in total

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