Literature DB >> 15060123

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.

R Pop, C Conz, K S Lindenberg, S Blesson, B Schmalenberger, S Briault, D Pfeifer, G Scherer.   

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Year:  2004        PMID： 15060123      PMCID： PMC1735745          DOI： 10.1136/jmg.2003.013185

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


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  21 in total

1.  Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter.

Authors:  Marta Smyk; Przemyslaw Szafranski; Michał Startek; Anna Gambin; Paweł Stankiewicz
Journal:  Chromosome Res       Date:  2013-11-20       Impact factor: 5.239

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

Review 3.  Non-coding genetic variants in human disease.

Authors:  Feng Zhang; James R Lupski
Journal:  Hum Mol Genet       Date:  2015-07-07       Impact factor: 6.150

4.  SOX9 chromatin folding domains correlate with its real and putative distant cis-regulatory elements.

Authors:  Marta Smyk; Kadir Caner Akdemir; Paweł Stankiewicz
Journal:  Nucleus       Date:  2017-01-13       Impact factor: 4.197

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

6.  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

Review 7.  Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences.

Authors:  Shipra Bhatia; Dirk A Kleinjan
Journal:  Hum Genet       Date:  2014-02-05       Impact factor: 4.132

8.  Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene.

Authors:  Bala Bhagavath; Lawrence C Layman; Reinhard Ullmann; Yiping Shen; Kyungsoo Ha; Khurram Rehman; Stephen Looney; Paul G McDonough; Hyung-Goo Kim; Bruce R Carr
Journal:  Mol Cell Endocrinol       Date:  2014-06-04       Impact factor: 4.102

9.  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

10.  Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2.

Authors:  Linda P Jakobsen; Reinhard Ullmann; Steen B Christensen; Karl Erik Jensen; Kirsten Mølsted; Karen F Henriksen; Claus Hansen; Mary A Knudsen; Lars A Larsen; Niels Tommerup; Zeynep Tümer
Journal:  J Med Genet       Date:  2007-06       Impact factor: 6.318
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