Literature DB >> 19921652

Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia.

Yuka Wada1, Gen Nishimura, Toshiro Nagai, Hideaki Sawai, Mayumi Yoshikata, Shinichirou Miyagawa, Takushi Hanita, Seiji Sato, Tomonobu Hasegawa, Shumpei Ishikawa, Tsutomu Ogata.   

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Year:  2009        PMID： 19921652     DOI： 10.1002/ajmg.a.33107

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


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  5 in total

1.  Expression of master regulatory genes controlling skeletal development in benign cartilage and bone forming tumors.

Authors:  Jane Y Dancer; Stephen P Henry; Jolanta Bondaruk; Sangkyou Lee; Alberto G Ayala; Benoit de Crombrugghe; Bogdan Czerniak
Journal:  Hum Pathol       Date:  2010-12       Impact factor: 3.466

2.  Mild Campomelic Dysplasia: Report on a Case and Review.

Authors:  S Corbani; E Chouery; B Eid; N Jalkh; J Abou Ghoch; A Mégarbané
Journal:  Mol Syndromol       Date:  2011-01-10

3.  Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations.

Authors:  Eduardo P Mattos; Maria Teresa V Sanseverino; José Antônio A Magalhães; Júlio César L Leite; Temis Maria Félix; Luiz Alberto Todeschini; Denise P Cavalcanti; Lavinia Schüler-Faccini
Journal:  Genet Mol Biol       Date:  2014-03-17       Impact factor: 1.771

Review 4.  Diverse Regulation but Conserved Function: SOX9 in Vertebrate Sex Determination.

Authors:  Brittany Vining; Zhenhua Ming; Stefan Bagheri-Fam; Vincent Harley
Journal:  Genes (Basel)       Date:  2021-03-26       Impact factor: 4.096

5.  Tenuous Transcriptional Threshold of Human Sex Determination. I. SRY and Swyer Syndrome at the Edge of Ambiguity.

Authors:  Yen-Shan Chen; Joseph D Racca; Michael A Weiss
Journal:  Front Endocrinol (Lausanne)       Date:  2022-07-26       Impact factor: 6.055
  5 in total

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