Human Genome Epidemiology Literature Finder
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Records 1 - 14 (of 14 Records) |
| Query Trace: Hypospadias and NR5A1[original query] |
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| 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 |
| 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 |
| The p.G146A and p.P125P polymorphisms in the steroidogenic factor-1 (SF-1) gene do not affect the risk for hypospadias in Caucasians. Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2012 Nov . Adamovic T, Chen Y, Thai HT, Zhang X, Markljung E, Zhao S, Nordenskjöld A |
| 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 |
| Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males. European journal of human genetics : EJHG 2013 Sep 21 (9): 1012-5. Röpke Albrecht, Tewes Ann-Christin, Gromoll Jörg, Kliesch Sabine, Wieacker Peter, Tüttelmann Fra |
| Uniparental Disomy in Somatic Mosaicism 45,X/46,XY/46,XX Associated with Ambiguous Genitalia. Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2015 9 (3): 136-43. Serra Alexandre, Denzer Friederike, Hiort Olaf, Barth Thomas F, Henne-Bruns Doris, Barbi Gotthold, Rettenberger Günther, Wabitsch Martin, Just Walter, Leriche Clothil |
| A novel mutation in steroidogenic factor (SF1/NR5A1) gene in a patient with 46 XY DSD without adrenal insufficiency. Andrologia 2016 May . Tuhan H, Anik A, Catli G, Onay H, Aykut A, Abaci A, Bober |
| 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 |
| A missense mutation in NR5A1 causing female to male sex reversal: A case report. Andrologia 2020 4 52 (6): e13585. Askari Masomeh, Rastari Mandana, Seresht-Ahmadi Mehrshad, McElreavey Kenneth, Bashamboo Anu, Razzaghy-Azar Maryam, Totonchi Meh |
| Screening for structural variants of four candidate genes in dogs with disorders of sex development revealed the first case of a large deletion in NR5A1. Animal reproduction science 2020 10 223 106632. Nowacka-Woszuk Joanna, Szczerbal Izabela, Stachowiak Monika, Dzimira Stanislaw, Nizanski Wojciech, Biezynski Janusz, Nowak Tomasz, Gogulski Maciej, Switonski Mar |
| How Far Should We Explore Hypospadias? Next-generation Sequencing Applied to a Large Cohort of Hypospadiac Patients. European urology 2021 1 79 (4): 507-515. Ea Vuthy, Bergougnoux Anne, Philibert Pascal, Servant-Fauconnet Nadège, Faure Alice, Breaud Jean, Gaspari Laura, Sultan Charles, Paris Françoise, Kalfa Nicol |
| Whole exome sequencing applied to 42 Han Chinese patients with posterior hypospadias. Steroids 2022 May 184 109041. Shaomei Wang, Yongbin Pan, Daiyue Yu, Zhaorong Huang, Huirong Yang, Nan Li, Huanbin Lin, Yuzhu Liang, Kai |
| SRY and NR5A1 gene mutation in Algerian children and adolescents with DSD and testicular dysgenesis. African health sciences 2021 Sep 21 (3): 1491-1497. Kherouatou-Chaoui Naouel, Chellat-Rezgoune Djalila, Rezgoune Mohamed Larbi, Mc Elreavey Ken, Touabti Laaldja Souhem, Abadi Noreddine, Satta Dali |
| Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations. PloS one 2023 7 18 (7): e0287515. Idoia Martinez de Lapiscina, Chrysanthi Kouri, Josu Aurrekoetxea, Mirian Sanchez, Rawda Naamneh Elzenaty, Kay-Sara Sauter, Núria Camats, Gema Grau, Itxaso Rica, Amaia Rodriguez, Amaia Vela, Alicia Cortazar, Maria Concepción Alonso-Cerezo, Pilar Bahillo, Laura Bertholt, Isabel Esteva, Luis Castaño, Christa E Flü |
- Page last reviewed:Feb 1, 2024
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