Human Genome Epidemiology Literature Finder
Records 1 - 21 (of 21 Records) |
Query Trace: Disorders of Sex Development and AR[original query] |
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Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development. The Journal of clinical endocrinology and metabolism 2010 Apr 95 (4): 1876-88. Audi L, Fernández-Cancio M, Carrascosa A, Andaluz P, Torán N, Piró C, Vilaró E, Vicens-Calvet E, Gussinyé M, Albisu M A, Yeste D, Clemente M, Hernández de la Calle I, Del Campo M, Vendrell T, Blanco A, Martínez-Mora J, Granada M L, Salinas I, Forn J, Calaf J, Angerri O, Martínez-Sopena M J, Del Valle J, García E, Gracia-Bouthelier R, Lapunzina P, Mayayo E, Labarta J I, Lledó G, Sánchez Del Pozo J, Arroyo J, Pérez-Aytes A, Beneyto M, Segura A, Borrás V, Gabau E, Caimarí M, Rodríguez A, Martínez-Aedo M J, Carrera M, Castaño L, Andrade M, Bermúdez de la Vega J A, |
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 |
Low frequency of androgen receptor gene mutations in 46 XY DSD, and fetal growth restriction. Archives of disease in childhood 2014 Apr 99 (4): 358-61. Lek Ngee, Miles Harriet, Bunch Trevor, Pilfold-Wilkie Vickie, Tadokoro-Cuccaro Rieko, Davies John, Ong Ken K, Hughes Ieuan |
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 |
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 |
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 |
Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor. Journal of pediatric endocrinology & metabolism : JPEM 2017 12 31 (2): 223-228. Batista Rafael Loch, Rodrigues Andresa De Santi, Machado Aline Zamboni, Nishi Mirian Yumie, Cunha Flávia Siqueira, Silva Rosana Barbosa, Costa Elaine M F, Mendonca Berenice B, Domenice Sorah |
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 |
Mutational analysis of the androgen receptor (NR3C4) gene in patients with 46,XY DSD. Gene 2017 10 641 86-93. Ramos L, Chávez B, Mares L, Valdés E, Vilchis |
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 |
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 |
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 |
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 |
[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 |
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 |
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 |
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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