HuGE Literature Finder
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| 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 |
| Molecular study and genotype-phenotype in Chinese female patients with 46, XY disorders of sex development. Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology 2021 8 37 (10): 934-940. Xia Junke, Wu Jing, Chen Chen, Zhao Zhenhua, Xie Yanchuan, Bai Zhouxian, Kong Xiangdo |
| Mutation of c.244G>T in NR5A1 gene causing 46, XY DSD by affecting RNA splicing. Orphanet journal of rare diseases 2021 8 16 (1): 370. Yu Bingqing, Gao Yinjie, Mao Jiangfeng, Wang Xi, Nie Min, Wu Xuey |
| [Clinical and molecular characteristics of patients with 46,XY DSD due to NR5A1 gene mutations]. Problemy endokrinologii 2020 12 66 (3): 62-69. Kalinchenko Natalia Yu, Kolodkina Anna A, Raygorodskaya Nadezda Y, Tiulpakov Anatoly |
| Identification and functional analysis of fourteen NR5A1 variants in patients with the 46 XY disorders of sex development. Gene 2020 8 760 145004. Na Xiaoxue, Mao Yu, Tang Yunman, Jiang Wei, Yu Jing, Cao Li, Yang Jiy |
| 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 |
| Novel NR5A1 mutations found in Chinese patients with 46, XY disorders of sex development. Clinical endocrinology 2018 8 89 (5): 613-620. Yu Bingqing, Liu Zhaoxiang, Gao Yinjie, Mao Jiangfeng, Wang Xi, Hao Ming, Ma Wanlu, Huang Qibin, Zhang Rui, Nie Min, Wu Xuey |
| Two novel mutations in the NR5A1 gene as a cause of disorders of sex development in a Pakistani cohort of 46,XY patients. Andrologia 2015 Aug . Hussain S, Amar A, Najeeb M N, Khaliq |
| Novel Heterozygous Mutations of NR5A1 and Their Functional Characteristics in Patients with 46,XY Disorders of Sex Development without Adrenal Insufficiency. Hormone research in pædiatrics 2015 84 (2): 116-23. Woo Kyu Ha, Cheon Buwon, Kim Ja Hye, Cho Jahyang, Kim Gu-Hwan, Yoo Han-Wook, Choi Jin- |
| Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure. American journal of medical genetics. Part A 2013 Oct 161A (10): 2487-94. Harrison Steven M, Campbell Ian M, Keays Melise, Granberg Candace F, Villanueva Carlos, Tannin Grace, Zinn Andrew R, Castrillon Diego H, Shaw Chad A, Stankiewicz Pawel, Baker Linda |
| 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 |
| Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1. American journal of human genetics 2010 Oct 87 (4): 505-12. Bashamboo Anu, Ferraz-de-Souza Bruno, Lourenço Diana, Lin Lin, Sebire Neil J, Montjean Debbie, Bignon-Topalovic Joelle, Mandelbaum Jacqueline, Siffroi Jean-Pierre, Christin-Maitre Sophie, Radhakrishna Uppala, Rouba Hassan, Ravel Celia, Seeler Jacob, Achermann John C, McElreavey K |
| The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency. European journal of endocrinology / European Federation of Endocrine Societies 2009 Aug 161 (2): 237-42. Köhler Birgit, Lin Lin, Mazen Inas, Cetindag Cigdem, Biebermann Heike, Akkurt Ilker, Rossi Rainer, Hiort Olaf, Grüters Annette, Achermann John |
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- Page last updated:Mar 22, 2023
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