Literature DB >> 7776083

True hermaphroditism with 46,XY karyotype and a point mutation in the SRY gene.

O Hiort, B Gramss, G T Klauber.   

Abstract

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Year:  1995        PMID： 7776083     DOI： 10.1016/s0022-3476(95)70247-4

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  5 in total

1.  Inherited human sex reversal due to impaired nucleocytoplasmic trafficking of SRY defines a male transcriptional threshold.

Authors:  Yen-Shan Chen; Joseph D Racca; Nelson B Phillips; Michael A Weiss
Journal:  Proc Natl Acad Sci U S A       Date:  2013-09-03       Impact factor: 11.205

2.  Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination.

Authors:  K McElreavey; E Vilain; S Barbaux; J S Fuqua; P Y Fechner; N Souleyreau; M Doco-Fenzy; R Gabriel; C Quereux; M Fellous; G D Berkovitz
Journal:  Proc Natl Acad Sci U S A       Date:  1996-08-06       Impact factor: 11.205

3.  Mammalian testis-determining factor SRY and the enigma of inherited human sex reversal: frustrated induced fit in a bent protein-DNA complex.

Authors:  Nelson B Phillips; Joseph Racca; Yen-Shan Chen; Rupinder Singh; Agnes Jancso-Radek; James T Radek; Nalinda P Wickramasinghe; Elisha Haas; Michael A Weiss
Journal:  J Biol Chem       Date:  2011-08-17       Impact factor: 5.157

4.  A de novo phe671eu mutation in the SRY gene in a patient with complete 46,XY gonadal dysgenesis.

Authors:  J C Zenteno; S Carranza-Lira; A L Jiménez; S Kofman
Journal:  J Endocrinol Invest       Date:  2003-11       Impact factor: 4.256

Review 5.  Concepts and Updates in the Evaluation and Diagnosis of Common Disorders of Sexual Development.

Authors:  Amar Y Rawal; Paul F Austin
Journal:  Curr Urol Rep       Date:  2015-12       Impact factor: 3.092
  5 in total

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