HuGE Literature Finder
Records 1 - 10
| Phenotype and genetic characteristics in 20 Chinese patients with 46,XY disorders of sex development.
Journal of endocrinological investigation 2023 2 .
Zheng G Y, Chu G M, Li P P, He
| An Extremely Rare SRD5A2 Gene c.485A>C Mutation in a Compound Heterozygous Newborn with Disorders of Sex Development First Identified in Vietnam.
Case reports in endocrinology 2022 4 2022 6025916.
Le Phan Tuong Quynh, Le Thanh Nha Uyen, Nguyen Thi Thanh Binh, Nguyen Minh Thao, Ha Thi Minh T
| Genome analyses and androgen quantification for an infant with 5?-reductase type 2 deficiency.
Journal of pediatric endocrinology & metabolism : JPEM 2021 6 34 (9): 1191-1195.
Akiba Kazuhisa, Aso Keiko, Hasegawa Yukihiro, Fukami Ma
| Prevalence of gene mutations in a Chinese 46,XY disorders of sex development cohort detected by targeted next-generation sequencing.
Asian journal of andrology 2020 9 23 (1): 69-73.
Yu Bing-Qing, Liu Zhao-Xiang, Gao Yin-Jie, Wang Xi, Mao Jiang-Feng, Nie Min, Wu Xue-Y
| Spectrum of Pathogenic Variants in SRD5A2 in Indian Children with 46,XY Disorders of Sex Development and Clinically Suspected Steroid 5?-Reductase 2 Deficiency.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2020 9 13 (5-6): 228-239.
Kumar Anil, Sharma Rajni, Faruq Mohammed, Suroliya Varun, Kumar Manoj, Sharma Shilpa, Werner Ralf, Hiort Olaf, Jain Vanda
| New insights into 5?-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype-phenotype profiling of SRD5A2 in 190 Chinese patients.
Journal of medical genetics 2019 6 56 (10): 685-692.
Gui Baoheng, Song Yanning, Su Zhe, Luo Fei-Hong, Chen Linqi, Wang Xiumin, Chen Ruimin, Yang Yu, Wang Jin, Zhao Xiu, Fan Lijun, Liu Xia, Wang Yi, Chen Shaoke, Gong Chunx
| Investigation of androgen receptor gene mutations in a series of 21 patients with 46,XY disorders of sex development.
Journal of pediatric endocrinology & metabolism : JPEM 2015 Jul .
Topcu Vehap, Ilgin-Ruhi Hatice, Siklar Zeynep, Karabulut Halil Gurhan, Berberoglu Merih, Hacihamdioglu Bulent, Savas-Erdeve Senay, Aycan Zehra, Peltek-Kendirci Havva Nur, Ocal Gonul, Tukun Fatma Ajl
| Screening for mutations in 17ß-hydroxysteroid dehydrogenase and androgen receptor in women presenting with partially virilised 46,XY disorders of sex development.
European journal of endocrinology / European Federation of Endocrine Societies 2015 Mar .
Phelan Niamh, Williams Emma L, Cardamone Stefanie, Lee Marilyn, Creighton Sarah M, Rumsby Gill, Conway Gerard
| AR and SRD5A2 gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity.
Andrology 2014 Jul 2 (4): 572-8.
Akcay T, Fernandez-Cancio M, Turan S, Güran T, Audi L, Bereket
| Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutations.
PloS one 2012 7 (3): e32505.
Kalfa Nicolas, Fukami Maki, Philibert Pascal, Audran Francoise, Pienkowski Catherine, Weill Jacques, Pinto Graziella, Manouvrier Sylvie, Polak Michel, Ogata Totsumo, Sultan Charl
- Page last reviewed:Feb 1, 2023
- Page last updated:Mar 22, 2023
- Content source: