Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 9 (of 9 Records) |
Query Trace: Complete Androgen Insensitivity Syndrome[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, |
Minor hypospadias: the "tip of the iceberg" of the partial androgen insensitivity syndrome. PloS one 2013 8 (4): e61824. Kalfa Nicolas, Philibert Pascal, Werner Ralf, Audran Françoise, Bashamboo Anu, Lehors Hélène, Haddad Myriam, Guys Jean Michel, Reynaud Rachel, Alessandrini Pierre, Wagner Kathy, Kurzenne Jean Yves, Bastiani Florence, Bréaud Jean, Valla Jean Stéphane, Lacombe Gérard Morisson, Orsini Mattea, Daures Jean-Pierre, Hiort Olaf, Paris Françoise, McElreavey Kenneth, Sultan Charl |
Clinical and genetic characterization of six cases with complete androgen insensitivity syndrome in China. Journal of genetics 2017 9 96 (4): 695-700. He Jing, Qi Shuwu, Zhang Huijun, Guo Jingjing, Chen Shu, Zhang Qi, Zhu Baoshe |
Computational analysis of androgen receptor (AR) variants to decipher the relationship between protein stability and related-diseases. Scientific reports 2020 7 10 (1): 12101. Chen Fangfang, Chen Xiaoqing, Jiang Fan, Leng Feng, Liu Wei, Gui Yaoting, Yu Ji |
[Androgen insensitivity syndrome discovered due to discordance in prenatal assessments of fetal gender]. Ugeskrift for laeger 2020 1 181 (51): . Trier Cæcilie, Cleemann Line Hartvig, Hjelvang Brian Rafn, Ambye Louise, Jørgensen Finn Sten |
Clinical characteristics, AR gene variants, and functional domains in 64 patients with androgen insensitivity syndrome. Journal of endocrinological investigation 2022 8 46 (1): 151-158. Liu Q, Yin X, Li |
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 |
In Silico Analysis of Functional SNPs in Genes of Complete Androgen Insensitivity Syndrome (CAIS): A Retrospective, Case-Control Study. Journal of obstetrics and gynaecology of India 2024 5 74 (2): 136-143. Shalaka S Ramgir, Sivakumar Annamalai, V G Abila |
Low androgen signaling rescues genome integrity with innate immune response by reducing fertility in humans. Cell death & disease 2024 1 15 (1): 30. J Zimmer, L Mueller, P Frank-Herrmann, J Rehnitz, J E Dietrich, M Bettendorf, T Strowitzki, M Krive |
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