Human Genome Epidemiology Literature Finder
Records 1 - 19 (of 19 Records) |
Query Trace: 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 |
Analysis of testosterone pathway genes in dogs (78,XY; SRY-positive) with ambiguous external genitalia revealed a homozygous animal for 2-bp deletion causing premature stop codon in HSD17B3. Animal genetics 2019 9 50 (6): 705-711. Krzeminska P, Nizanski W, Nowacka-Woszuk J, Switonski |
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 |
Polymorphisms of MAMLD1, SRD5A2, and AR Candidate Genes in Seven Dogs (78,XY; SRY-Positive) Affected by Hypospadias or Cryptorchidism. Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2019 5 13 (2): 92-98. Krzemi?ska Paulina, D'Anza Emanuele, Ciotola Francesca, Paciello Orlando, Restucci Brunella, Peretti Vincenzo, Albarella Sara, Switonski Mar |
Characterising SRD5A2 Gene Variants in 37 Indonesian Patients with 5-Alpha-Reductase Type 2 Deficiency. International journal of endocrinology 2019 12 2019 7676341. Marzuki Nanis S, Idris Firman P, Kartapradja Hannie D, Harahap Alida R, Batubara Jose R |
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 |
A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes. European journal of medical genetics 2021 1 64 (3): 104154. Ata Aysun, Özen Samim, Onay Hüseyin, Uzun Selin, Gök?en Damla, Özk?nay Ferda, Özbaran Nazl? Burcu, Ulman ?brahim, Darcan ?ükr |
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 |
[Analysis of clinical phenotype and genotype of Chinese children with disorders of sex development]. Zhonghua er ke za zhi = Chinese journal of pediatrics 2022 4 60 (5): 435-441. Lin H, Yang H, Fu J F, Yuan K, Huang W, Wu G P, Dong G J, Tian D H, Wu D X, Tang D W, Wu L Y, Sun Y L, Pi L J, Liu L P, Shi W, Gu L G, Huang Z H, Wang L Q, Chen H Y, Li Y, Yu H Y, Wei X R, Cheng X O, Shan Y, Liu X, Xu S, Liu X P, Luo Y F, Xiao Y, Yang G M, Li M, Feng X Q, Ma D X, Pan J Y, Tang R M, Chen Ruimin, Maimaiti D Y, Liu X H, Cui Z, Su Z Q, Dong L, Zou Y L, Liu J, Wu K X, Li Y, Li Yu |
Clinical characteristics and genetic expansion of 46, XY disorders of sex development children in a Chinese prospective study. Endocrine connections 2023 7 . Yijun Tang, Yao Chen, Jiayi Wang, Qianwen Zhang, Yirou Wang, Yufei Xu, Xin Li, Jian Wang, Xiumin Wa |
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 |
Comprehensive molecular analysis identifies eight novel variants in XY females with disorders of sex development. Molecular human reproduction 2023 1 29 (2): . Kulkarni Vinayak, Chellasamy Selvaa Kumar, Dhangar Somprakash, Ghatanatti Jagdeeshwar, Vundinti Babu R |
Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development. Reproductive biology and endocrinology : RB&E 2023 1 21 (1): 2. Rjiba Khouloud, Mougou-Zerelli Soumaya, Hamida Imen Hadj, Saad Ghada, Khadija Bochra, Jelloul Afef, Slimani Wafa, Hasni Yosra, Dimassi Sarra, Khelifa Hela Ben, Sallem Amira, Kammoun Molka, Abdallah Hamza Hadj, Gribaa Moez, Bignon-Topalovic Joelle, Chelly Sami, Khairi Hédi, Bibi Mohamed, Kacem Maha, Saad Ali, Bashamboo Anu, McElreavey Kenne |
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- Page last updated:May 06, 2024
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