✦ LIBER ✦

Absence of inactivating mutations and deletions in the DMRT1 and FGF9 genes in a large cohort of 46,XY patients with gonadal dysgenesis

✍ Scribed by Machado, Aline Zamboni; da Silva, Thatiana Evilen; Frade Costa, Elaine Maria; dos Santos, Mariza Gerdulo; Nishi, Mirian Yumie; Brito, Vinicius Nahime; Mendonca, Berenice Bilharinho; Domenice, Sorahia

Book ID: 118199063
Publisher: Elsevier Science
Year: 2012
Tongue: English
Weight: 215 KB
Volume: 55
Category: Article
ISSN: 1769-7212
DOI: 10.1016/j.ejmg.2012.07.012

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Absence of mutations in the WT1 gene in

Absence of mutations in the WT1 gene in patients with XY gonadal dysgenesis

✍ A. Nordenskjöld; G. Fricke; M. Anvret 📂 Article 📅 1995 🏛 Springer 🌐 English ⚖ 334 KB

Swyer Syndrome and 46,XY Partial Gonadal

Swyer Syndrome and 46,XY Partial Gonadal Dysgenesis Associated with 9p Deletions in the Absence of Monosomy-9p Syndrome

✍ R.A. Veitia; M. Nunes; L. Quintana-Murci; R. Rappaport; E. Thibaud; F. Jaubert; 📂 Article 📅 1998 🏛 American Society of Human Genetics 🌐 English ⚖ 583 KB

Screening of Y chromosome microdeletions

Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants

✍ dos Santos, Ana; Ribeiro Andrade, Juliana; Piveta, Cristiane Santos; de Paulo, J 📂 Article 📅 2013 🏛 BioMed Central 🌐 English ⚖ 482 KB

Description and molecular analysis of SR

Description and molecular analysis of SRY and AR genes in a patient with 46,XY pure gonadal dysgenesis (Swyer syndrome)

✍ Dimitrios Iliopoulos; Nikolaos Volakakis; Alexandra Tsiga; Israel Rousso; Nikola 📂 Article 📅 2004 🏛 Elsevier Science 🌐 English ⚖ 116 KB

Preserved Fertility in a Patient with a

Preserved Fertility in a Patient with a 46,XY Disorder of Sex Development due to a New Heterozygous Mutation in the NR5A1/SF-1 Gene: Evidence of 46,XY and 46,XX Gonadal Dysgenesis Phenotype Variability in Multiple Members of an Affected Kindred

✍ Ciaccio, Marta; Costanzo, Mariana; Guercio, Gabriela; De Dona, Valeria; Marino, 📂 Article 📅 2012 🏛 S. Karger AG 🌐 English ⚖ 415 KB

Novel homozygous mutations in Desert Hed

Novel homozygous mutations in Desert Hedgehog gene in patients with 46,XY complete gonadal dysgenesis and prediction of its structural and functional implications by computational methods

✍ Dhanjit Kumar Das; Daksha Sanghavi; Harshavardhan Gawde; Susan Idicula-Thomas; L 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 947 KB