Literature DB >> 18661548

Molecular cytogenetic analysis of a de novo interstitial deletion of chromosome 10q (q25.3q26.13) in a male child with ambiguous genitalia: Evidence for a new critical region for genital development.

Veronica Mardo1, Elizabeth E Squibb, Nancy Braverman, Julie E Hoover-Fong, Claude Migeon, Denise A S Batista, George H Thomas.   

Abstract

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Year:  2008        PMID： 18661548     DOI： 10.1002/ajmg.a.32316

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  5 in total

1.  Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function.

Authors:  Nathaniel D Miller; Melonie A Nance; Elizabeth S Wohler; Julie E Hoover-Fong; Emily Lisi; George H Thomas; Jonathan Pevsner
Journal:  Am J Med Genet A       Date:  2009-02-15       Impact factor: 2.802

2.  Genetic Screening of Iranian Patients with 46,XY Disorders of Sex Development.

Authors:  Azadeh Shojaei; Reza Ebrahimzadeh-Vesal; Ali Ahani; Maryam Razzaghy-Azar; Golnaz Khakpour; Farideh Ghazi; Javad Tavakkoly-Bazzaz
Journal:  Rep Biochem Mol Biol       Date:  2017-10

3.  Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients.

Authors:  Nancy Choucair; Joelle Abou Ghoch; Sandra Corbani; Pierre Cacciagli; Cecile Mignon-Ravix; Nabiha Salem; Nadine Jalkh; Sandra El Sabbagh; Ali Fawaz; Tony Ibrahim; Laurent Villard; André Mégarbané; Eliane Chouery
Journal:  Mol Cytogenet       Date:  2015-04-09       Impact factor: 2.009

4.  A de novo microdeletion in a patient with inner ear abnormalities suggests that the 10q26.13 region contains the responsible gene.

Authors:  Noriko Sangu; Nobuhiko Okamoto; Keiko Shimojima; Yumiko Ondo; Masanori Nishikawa; Toshiyuki Yamamoto
Journal:  Hum Genome Var       Date:  2016-05-19

5.  Molecular Mechanisms of Syndromic Cryptorchidism: Data Synthesis of 50 Studies and Visualization of Gene-Disease Network.

Authors:  Kristian Urh; Živa Kolenc; Maj Hrovat; Luka Svet; Peter Dovč; Tanja Kunej
Journal:  Front Endocrinol (Lausanne)       Date:  2018-07-26       Impact factor: 5.555
  5 in total

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