Literature DB >> 1485186

Abnormalities of gonadal determination and differentiation.

G D Berkovitz1.   

Abstract

Entities:  

Mesh：

Year:  1992        PMID： 1485186

Source DB:  PubMed          Journal:  Semin Perinatol        ISSN： 0146-0005            Impact factor:   3.300


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  4 in total

1.  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

2.  Androgen insensitivity syndrome: a survey of diagnostic procedures and management in the UK.

Authors:  R M Viner; Y Teoh; D M Williams; M N Patterson; I A Hughes
Journal:  Arch Dis Child       Date:  1997-10       Impact factor: 3.791

Review 3.  Male reproductive health and environmental xenoestrogens.

Authors:  J Toppari; J C Larsen; P Christiansen; A Giwercman; P Grandjean; L J Guillette; B Jégou; T K Jensen; P Jouannet; N Keiding; H Leffers; J A McLachlan; O Meyer; J Müller; E Rajpert-De Meyts; T Scheike; R Sharpe; J Sumpter; N E Skakkebaek
Journal:  Environ Health Perspect       Date:  1996-08       Impact factor: 9.031

4.  Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome.

Authors:  Ken McElreavey; Anne Jorgensen; Caroline Eozenou; Tiphanie Merel; Joelle Bignon-Topalovic; Daisylyn Senna Tan; Denis Houzelstein; Federica Buonocore; Nick Warr; Raissa G G Kay; Matthieu Peycelon; Jean-Pierre Siffroi; Inas Mazen; John C Achermann; Yuliya Shcherbak; Juliane Leger; Agnes Sallai; Jean-Claude Carel; Laetitia Martinerie; Romain Le Ru; Gerard S Conway; Brigitte Mignot; Lionel Van Maldergem; Rita Bertalan; Evgenia Globa; Raja Brauner; Ralf Jauch; Serge Nef; Andy Greenfield; Anu Bashamboo
Journal:  Genet Med       Date:  2019-07-24       Impact factor: 8.822
  4 in total

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