Human Genome Epidemiology Literature Finder
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Records 1 - 11 (of 11 Records) |
| Query Trace: 46, XY Disorders of Sex Development and SRD5A2[original query] |
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| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| In vitro functional study of fifteen SRD5A2 variants found in Chinese patients and the relation between the SRD5A2 genotypes and phenotypes. The Journal of steroid biochemistry and molecular biology 2023 11 235 106421. Wei Zhang, Bingging Yu, Wei Luo, Bang Sun, Xiaoxia Zhang, Xi Wang, Jiangfeng Mao, Min Nie, Xueyan |
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