Literature DB >> 25388168

Gene dosage effects in 46, XY DSD: usefulness of CGH technologies for diagnosis.

S Jaillard1, A Bashamboo, L Pasquier, M A Belaud-Rotureau, K McElreavey, S Odent, Célia Ravel.   

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Year:  2014        PMID： 25388168      PMCID： PMC4354187          DOI： 10.1007/s10815-014-0383-0

Source DB:  PubMed          Journal:  J Assist Reprod Genet        ISSN： 1058-0468            Impact factor:   3.412


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  15 in total

1.  Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci.

Authors:  S Ledig; O Hiort; G Scherer; M Hoffmann; G Wolff; S Morlot; A Kuechler; P Wieacker
Journal:  Hum Reprod       Date:  2010-08-04       Impact factor: 6.918

2.  Novel human pathological mutations. Gene symbol: SRY. Disease: XY sex reversal.

Authors:  Celia Ravel; B Lakhal; H Elghezal; R Braham; A Saad; A Bashamboo; J P Siffroi; K McElreavey; S Christin-Maitre
Journal:  Hum Genet       Date:  2009-08       Impact factor: 4.132

Review 3.  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

4.  Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer.

Authors:  Ryohei Sekido; Robin Lovell-Badge
Journal:  Nature       Date:  2008-05-04       Impact factor: 49.962

5.  Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysis.

Authors:  M Barbaro; A Cicognani; A Balsamo; A Löfgren; L Baldazzi; A Wedell; M Oscarson
Journal:  Clin Genet       Date:  2008-04-02       Impact factor: 4.438

6.  Identification of de novo copy number variants associated with human disorders of sexual development.

Authors:  Mounia Tannour-Louet; Shuo Han; Sean T Corbett; Jean-Francois Louet; Svetlana Yatsenko; Lindsay Meyers; Chad A Shaw; Sung-Hae L Kang; Sau Wai Cheung; Dolores J Lamb
Journal:  PLoS One       Date:  2010-10-26       Impact factor: 3.240

Review 7.  Disorders of sex development: a new definition and classification.

Authors:  Ieuan A Hughes
Journal:  Best Pract Res Clin Endocrinol Metab       Date:  2008-02       Impact factor: 4.690

Review 8.  [Molecular mechanisms in sex determination: from gene regulation to pathology].

Authors:  C Ravel; S Chantot-Bastaraud; J-P Siffroi
Journal:  Gynecol Obstet Fertil       Date:  2004 Jul-Aug

Review 9.  New technologies for the identification of novel genetic markers of disorders of sex development (DSD).

Authors:  A Bashamboo; S Ledig; P Wieacker; J C Achermann; J Achermann; K McElreavey
Journal:  Sex Dev       Date:  2010-07-03       Impact factor: 1.824

10.  Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1).

Authors:  Marta Smyk; Jonathan S Berg; Amber Pursley; Fiona K Curtis; Bridget A Fernandez; Gabriel A Bien-Willner; James R Lupski; Sau Wai Cheung; Pawel Stankiewicz
Journal:  Hum Genet       Date:  2007-05-15       Impact factor: 5.881
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  3 in total

Review 1.  Genetics of Disorders of Sex Development: The DSD-TRN Experience.

Authors:  Emmanuèle C Délot; Jeanette C Papp; David E Sandberg; Eric Vilain
Journal:  Endocrinol Metab Clin North Am       Date:  2017-03-28       Impact factor: 4.741

2.  Array-CGH diagnosis in ovarian failure: identification of new molecular actors for ovarian physiology.

Authors:  Sylvie Jaillard; Linda Akloul; Marion Beaumont; Houda Hamdi-Roze; Christele Dubourg; Sylvie Odent; Solène Duros; Nathalie Dejucq-Rainsford; Marc-Antoine Belaud-Rotureau; Célia Ravel
Journal:  J Ovarian Res       Date:  2016-10-03       Impact factor: 4.234

Review 3.  GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’

Authors:  L Audi; S F Ahmed; N Krone; M Cools; K McElreavey; P M Holterhus; A Greenfield; A Bashamboo; O Hiort; S A Wudy; R McGowan
Journal:  Eur J Endocrinol       Date:  2018-10-01       Impact factor: 6.664
  3 in total

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