Human Genome Epidemiology Literature Finder
Records 1 - 22 (of 22 Records) |
Query Trace: Disorders of Sex Development 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 |
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 |
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 |
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 |
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- |
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 |
Genetic Screening of Iranian Patients with 46,XY Disorders of Sex Development. Reports of biochemistry & molecular biology 2017 11 6 (1): 59-65. Shojaei Azadeh, Ebrahimzadeh-Vesal Reza, Ahani Ali, Razzaghy-Azar Maryam, Khakpour Golnaz, Ghazi Farideh, Tavakkoly-Bazzaz Jav |
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 |
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 |
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 |
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 |
[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 |
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 |
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 |
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 |
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 |
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 |
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 |
Whole exome sequencing reveals copy number variants in individuals with disorders of sex development. Molecular and cellular endocrinology 2022 1 546 111570. Sreenivasan Rajini, Bell Katrina, van den Bergen Jocelyn, Robevska Gorjana, Belluoccio Daniele, Dahiya Rachana, Leong Gary M, Dulon Jérôme, Touraine Philippe, Tucker Elena J, Ayers Katie, Sinclair Andr |
DHX37 and NR5A1 Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis. Life (Basel, Switzerland) 2023 5 13 (5): . Felipe Rodrigues de Oliveira, Taís Nitsch Mazzola, Maricilda Palandi de Mello, Ana Paula Francese-Santos, Sofia Helena V de Lemos-Marini, Andrea Trevas Maciel-Guerra, Olaf Hiort, Ralf Werner, Gil Guerra-Junior, Helena Fabbri-Scall |
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 |
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- Page last updated:Apr 29, 2024
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