Identification of a novel mutation in the SRY gene in a 46, XY female patient

2006 ◽  
Vol 49 (6) ◽  
pp. 494-498 ◽  
Author(s):  
L. Baghernajad Salehi ◽  
O. Scarciolla ◽  
G. Frajese Vanni ◽  
A.M. Nardone ◽  
G. Frajese ◽  
...  
Keyword(s):  
Female Patient ◽  
Novel Mutation ◽  
Sry Gene ◽  
Xy Female

A novel mutation (c. 341A>G) in the SRY gene in a 46,XY female patient with gonadal dysgenesis

Gene ◽  
2013 ◽  
Vol 526 (2) ◽  
pp. 467-470 ◽  
Author(s):  
Zofia Helszer ◽  
Anita Dmochowska ◽  
Janusz Szemraj ◽  
Jolanta Słowikowska-Hilczer ◽  
Marek Wieczorek ◽  
...  
Keyword(s):  
Female Patient ◽  
Gonadal Dysgenesis ◽  
Novel Mutation ◽  
Sry Gene ◽  
Xy Female

scholarly journals A Novel SRY Pathogenic Variant from a 46,XY Female Harboring a Nonsense Point Mutation (G to A) in Position 293

2021 ◽  
Author(s):  
Shengfang Qin ◽  
Xueyan Wang ◽  
Yunxing Li
Keyword(s):  
Point Mutation ◽  
Gene Mutation ◽  
Molecular Diagnosis ◽  
Novel Mutation ◽  
Pathogenic Variant ◽  
Sry Gene ◽  
Pathogenic Role ◽  
Common Cause ◽  
Xy Female

SRY gene mutation is a common cause of 46,XY female. We report a 46,XY female with a novel mutation of SRY c.293G>A (p.Trp98ter). Our report provides evidence for a pathogenic role of the SRY gene c.293G>A mutation in an individual and enlarges the spectrum of molecular diagnosis for these patients.

scholarly journals A novel mutation (c.T3816 > C) in the androgen receptor gene in a 46,XY female patient with androgen insensitivity syndrome

2013 ◽  
Vol 64 (5) ◽  
pp. 398-402 ◽  
Author(s):  
Zofia Helszer ◽  
Anita Dmochowska ◽  
Edyta Borkowska ◽  
Hanna Moczulska ◽  
Jolanta Słowikowska-Hilczer ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Female Patient ◽  
Novel Mutation ◽  
Receptor Gene ◽  
Androgen Receptor Gene ◽  
Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity ◽  
Xy Female

Novel mutation of the sex-determining region on the Y chromosome in a 46,XY female patient with monolateral dysgerminoma: A case report

2012 ◽  
Vol 39 (1) ◽  
pp. 442-445 ◽  
Author(s):  
Francesco Battaglia ◽  
Francesco Plotti ◽  
Michela Angelucci ◽  
Alessia Aloisi ◽  
Roberto Angioli
Keyword(s):  
Case Report ◽  
Y Chromosome ◽  
Female Patient ◽  
Novel Mutation ◽  
Xy Female

scholarly journals Epigenetic abnormality of SRY gene in the adult XY female with pericentric inversion of the Y chromosome

2010 ◽  
Vol 50 (2) ◽  
pp. 85-94 ◽  
Author(s):  
Tomoko Mitsuhashi ◽  
Katsuhiko Warita ◽  
Teruo Sugawara ◽  
Yoshiaki Tabuchi ◽  
Ichiro Takasaki ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Pericentric Inversion ◽  
Sry Gene ◽  
Xy Female

A 56-year-old female patient with facio-oculo-acoustico-renal syndrome (FOAR) syndrome. Report on the natural history and of a novel mutation

2009 ◽  
Vol 52 (5) ◽  
pp. 341-343 ◽  
Author(s):  
Samantha Stora ◽  
Martine Conte ◽  
Eliane Chouery ◽  
Sami Richa ◽  
Nadine Jalkh ◽  
...  
Keyword(s):  
Natural History ◽  
Female Patient ◽  
Novel Mutation ◽  
Syndrome Report

scholarly journals First Report of Concurrent Germ Cell and Epithelial Tumors in Ovotestes of a 46,XY Female Patient

2019 ◽  
Vol 15 (7) ◽  
pp. 410-412
Author(s):  
Leila Mahmoudzadeh ◽  
Ata Abbasi ◽  
Haleh Ayatollahi ◽  
Sepideh Rahimi ◽  
Behrouz Ilkhanizadeh
Keyword(s):  
Germ Cell ◽  
Female Patient ◽  
First Report ◽  
Epithelial Tumors ◽  
Xy Female

A case of premature menopause in an ovulating 46,XY female patient

1996 ◽  
Vol 8 (6) ◽  
pp. 465-469
Author(s):  
Deborah J. Harrington ◽  
Kim K. Smith ◽  
Adam H. Balen
Keyword(s):  
Female Patient ◽  
Premature Menopause ◽  
Xy Female

scholarly journals A novel mutation in the SRY gene causing 46 XY complete gonadal dysgenesis in a Chinese patient

2013 ◽  
Vol 2013 (Suppl 1) ◽  
pp. P189
Author(s):  
Elim Man ◽  
Yuet-Ling Tung ◽  
Ho-Ming Luk ◽  
Fai-Man Lo ◽  
Tak-Sum Lam ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
Novel Mutation ◽  
Chinese Patient ◽  
Sry Gene ◽  
Complete Gonadal Dysgenesis
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