Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 59 Records) |
Query Trace: NR5A1[original query] |
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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 |
Next-generation sequencing: toward an increase in the diagnostic yield in patients with apparently idiopathic spermatogenic failure. Asian journal of andrology 2020 Jul . Cannarella Rossella, Condorelli Rosita A, Paolacci Stefano, Barbagallo Federica, Guerri Giulia, Bertelli Matteo, La Vignera Sandro, Calogero Aldo |
Development of a novel next-generation sequencing panel for diagnosis of quantitative spermatogenic impairment. Journal of assisted reproduction and genetics 2020 4 37 (4): 753-762. Rocca Maria Santa, Msaki Aichi, Ghezzi Marco, Cosci Ilaria, Pilichou Kalliopi, Celeghin Rudy, Foresta Carlo, Ferlin Alber |
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 |
[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 |
The Potential Synergic Effect of a Complex Pattern of Multiple Inherited Genetic Variants as a Pathogenic Factor for Ovarian Dysgenesis: A Case Report. Frontiers in endocrinology 2020 10 11 540683. Cattoni Alessandro, Spano Alice, Tulone Anna, Boneschi Annalisa, Masera Nicoletta, Maitz Silvia, Di Blasio Anna Maria, Persani Luca, Guizzardi Fabiana, Rossetti Raffael |
Clinical Evaluation of a Custom Gene Panel as a Tool for Precision Male Infertility Diagnosis by Next-Generation Sequencing. Life (Basel, Switzerland) 2020 Oct 10 (10): . Cannarella Rossella, Precone Vincenza, Guerri Giulia, Busetto Gian Maria, Di Renzo Gian Carlo, Gerli Sandro, Manara Elena, Dautaj Astrit, Bertelli Matteo, Calogero Aldo Eugen |
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 |
Next Generation Sequencing Should Be Proposed to Every Woman With "Idiopathic" Primary Ovarian Insufficiency. Journal of the Endocrine Society 2021 6 5 (7): bvab032. Eskenazi Sarah, Bachelot Anne, Hugon-Rodin Justine, Plu-Bureau Genevieve, Gompel Anne, Catteau-Jonard Sophie, Molina-Gomes Denise, Dewailly Didier, Dodé Catherine, Christin-Maitre Sophie, Touraine Philip |
Advances in genomic diagnosis of a large cohort of Egyptian patients with disorders of sex development. American journal of medical genetics. Part A 2021 3 185 (6): 1666-1677. Mazen Inas, Mekkawy Mona, Kamel Alaa, Essawi Mona, Hassan Heba, Abdel-Hamid Mohamed, Amr Khalda, Soliman Hala, El-Ruby Mona, Torky Ahmed, El Gammal Mona, Elaidy Aya, Bashamboo Anu, McElreavey Kenne |
Pubertal development in 46,XY patients with NR5A1 mutations. Endocrine 2021 10 75 (2): 601-613. Mönig Isabel, Schneidewind Julia, Johannsen Trine H, Juul Anders, Werner Ralf, Lünstedt Ralf, Birnbaum Wiebke, Marshall Louise, Wünsch Lutz, Hiort Ol |
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 |
Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort. Frontiers in genetics 2022 9 13 900574. Zidoune Housna, Ladjouze Asmahane, Chellat-Rezgoune Djalila, Boukri Asma, Dib Scheher Aman, Nouri Nassim, Tebibel Meryem, Sifi Karima, Abadi Noureddine, Satta Dalila, Benelmadani Yasmina, Bignon-Topalovic Joelle, El-Zaiat-Munsch Maeva, Bashamboo Anu, McElreavey K |
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 |
WT1, NR0B1, NR5A1, LHX9, ZFP92, ZNF275, INSL3, and NRIP1 Genetic Variants in Patients with Premature Ovarian Insufficiency in a Mexican Cohort. Genes 2022 4 13 (4): . Ramos Lu |
Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings. Frontiers in endocrinology 2022 4 13 810782. Globa Evgenia, Zelinska Natalia, Shcherbak Yulia, Bignon-Topalovic Joelle, Bashamboo Anu, M?Elreavey K |
Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development. The Journal of clinical endocrinology and metabolism 2022 2 107 (5): e1797-e1806. Gomes Nathalia Lisboa, Batista Rafael Loch, Nishi Mirian Y, Lerário Antônio Marcondes, Silva Thatiana E, de Moraes Narcizo Amanda, Benedetti Anna Flávia Figueredo, de Assis Funari Mariana Ferreira, Faria Junior José Antônio, Moraes Daniela Rodrigues, Quintão Lia Mesquita Lousada, Montenegro Luciana Ribeiro, Ferrari Maria Teresa Martins, Jorge Alexander A, Arnhold Ivo J P, Costa Elaine Maria Frade, Domenice Sorahia, Mendonca Berenice Bilharin |
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 |
Transcriptomic Classification of Pituitary Neuroendocrine Tumors Causing Acromegaly. Cells 2022 12 11 (23): . Rymuza Julia, Kober Paulina, Rusetska Natalia, Mossakowska Beata J, Maksymowicz Maria, Nyc Aleksandra, Baluszek Szymon, Zieli?ski Grzegorz, Kunicki Jacek, Bujko Mateu |
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 |
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 |
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 |
Role of chromosomal imbalances in the pathogenesis of DSD: A retrospective analysis of 115 prenatal samples. European journal of medical genetics 2023 3 66 (6): 104748. Mary L, Fradin M, Pasquier L, Quelin C, Loget P, Le Lous M, Le Bouar G, Nivot-Adamiak S, Lokchine A, Dubourg C, Jauffret V, Nouyou B, Henry C, Launay E, Odent S, Jaillard S, Belaud-Rotureau M |
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 adolescent girls, virilization at puberty may reveal a 46,XY disorder of sexual development. Endocrine connections 2023 10 . Anne Bergougnoux, Laura Gaspari, Marion Soleirol, Nadege Servant, Soskin Sylvie, Sylvie Rossignol, Kathy Wagner-Mahler, Jérôme Bertherat, Charles Sultan, Nicolas Kalfa, Françoise Par |
Correlation between LHCGR and NR5A1 genes polymorphism and male infertility risk. Actas urologicas espanolas 2023 10 . M Behvarz, S A Rahmani, E Siasi Torbati, S Danaei Mehrabad, M Bikhof Torba |
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- Page last updated:Mar 25, 2024
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