HuGE Literature Finder
Records 1-7
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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 |
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Screening for mutations for 17 ß-hydroxysteroid dehydrogenase and androgen receptor in an adult female 46, XY DSD clinic.
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 |
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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 |
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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 |
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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 |
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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 |
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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, |
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- Page last updated:Nov 17, 2020
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