Human Genome Epidemiology Literature Finder
Records 1 - 17 (of 17 Records) |
Query Trace: Androgen-Insensitivity Syndrome and AR[original query] |
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Increased frequency of long androgen receptor CAG repeats in male breast cancers. Breast cancer research and treatment 2004 Dec 88 (3): 239-46. MacLean Helen E, Brown Robert W, Beilin Jonathan, Warne Garry L, Zajac Jeffrey |
Correlation between genotype, phenotype and sex of rearing in 111 patients with partial androgen insensitivity syndrome. Clinical endocrinology 2005 Jul 63 (1): 56-62. Deeb A, Mason C, Lee Y S, Hughes I |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome. Steroids 2019 9 152 108489. Kharrat Maher, Tajouri Asma, Nacef Imen Ben, Hizem Cyrine, Trabelsi Mediha, Maazoul Faouzi, M'rad Ridha, Chaabouni Habiba Bouham |
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 |
Clinical, Hormonal, Genetic, and Molecular Characteristics in Androgen Insensitivity Syndrome in an Asian Indian Cohort from a Single Centre in Western India. Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2021 8 15 (4): 253-261. Arya Sneha, Barnabas Rohit, Lila Anurag Ranjan, Sarathi Vijaya, Memon Saba Samad, Bhandare Vishwambhar Vishnu, Thakkar Kunal, Patil Virendra, Shah Nalini Samir, Kunwar Ambarish, Bandgar Tush |
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 |
Four novel mutations in the androgen receptor gene from Vietnamese patients with androgen insensitivity syndrome. Genes & genomics 2022 4 . Nguyen Thu Hien, Nguyen Duc Quan, Kim Lien Nguyen Thi, Thi Thanh Ngan Nguyen, Nguyen Thi Phuong Mai, Tran Ngoc Dung, Nguyen Huy Hoa |
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 |
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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- Page last updated:Apr 29, 2024
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