Literature DB >> 21208124

A SOX9 duplication and familial 46,XX developmental testicular disorder.

James J Cox, Lionel Willatt, Tessa Homfray, C Geoffrey Woods.   

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Year:  2011        PMID： 21208124     DOI： 10.1056/NEJMc1010311

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  42 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

Review 2.  New technologies to uncover the molecular basis of disorders of sex development.

Authors:  Hayk Barseghyan; Emmanuèle C Délot; Eric Vilain
Journal:  Mol Cell Endocrinol       Date:  2018-04-13       Impact factor: 4.102

Review 3.  Disorders of sex development: effect of molecular diagnostics.

Authors:  John C Achermann; Sorahia Domenice; Tania A S S Bachega; Mirian Y Nishi; Berenice B Mendonca
Journal:  Nat Rev Endocrinol       Date:  2015-05-05       Impact factor: 43.330

Review 4.  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

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.  DSDs: genetics, underlying pathologies and psychosexual differentiation.

Authors:  Valerie A Arboleda; David E Sandberg; Eric Vilain
Journal:  Nat Rev Endocrinol       Date:  2014-08-05       Impact factor: 43.330

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

Review 8.  Disorders of sex development: new genes, new concepts.

Authors:  Makoto Ono; Vincent R Harley
Journal:  Nat Rev Endocrinol       Date:  2012-12-18       Impact factor: 43.330

9.  Regulation of sex determination in mice by a non-coding genomic region.

Authors:  Valerie A Arboleda; Alice Fleming; Hayk Barseghyan; Emmanuèle Délot; Janet S Sinsheimer; Eric Vilain
Journal:  Genetics       Date:  2014-05-02       Impact factor: 4.562

Review 10.  Translational genetics for diagnosis of human disorders of sex development.

Authors:  Ruth M Baxter; Eric Vilain
Journal:  Annu Rev Genomics Hum Genet       Date:  2013-07-15       Impact factor: 8.929
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