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5. Phenotypic variation in a family with partial androgen insensitivity syndrome explained by differences in 5alpha dihydrotestosterone availability. Boehmer AL; Brinkmann AO; Nijman RM; Verleun-Mooijman MC; de Ruiter P; Niermeijer MF; Drop SL J Clin Endocrinol Metab; 2001 Mar; 86(3):1240-6. PubMed ID: 11238515 [TBL] [Abstract][Full Text] [Related]
6. Partial androgen insensitivity with phenotypic variation caused by androgen receptor mutations that disrupt activation function 2 and the NH(2)- and carboxyl-terminal interaction. Quigley CA; Tan JA; He B; Zhou ZX; Mebarki F; Morel Y; Forest MG; Chatelain P; Ritzén EM; French FS; Wilson EM Mech Ageing Dev; 2004; 125(10-11):683-95. PubMed ID: 15541764 [TBL] [Abstract][Full Text] [Related]
7. Clinical and molecular spectrum of somatic mosaicism in androgen insensitivity syndrome. Holterhus PM; Wiebel J; Sinnecker GH; Brüggenwirth HT; Sippell WG; Brinkmann AO; Kruse K; Hiort O Pediatr Res; 1999 Dec; 46(6):684-90. PubMed ID: 10590024 [TBL] [Abstract][Full Text] [Related]
8. Molecular features and clinical phenotypes in androgen insensitivity syndrome in the absence and presence of androgen receptor gene mutations. Holterhus PM; Werner R; Hoppe U; Bassler J; Korsch E; Ranke MB; Dörr HG; Hiort O J Mol Med (Berl); 2005 Dec; 83(12):1005-13. PubMed ID: 16283146 [TBL] [Abstract][Full Text] [Related]
9. Androgen Insensitivity Syndrome: Clinical Phenotype and Molecular Analysis in a Single Tertiary Center Cohort. Touzon MS; Garrido NP; Marino R; Ramirez P; Costanzo M; Guercio G; Berensztein E; Rivarola MA; Belgorosky A J Clin Res Pediatr Endocrinol; 2019 Feb; 11(1):24-33. PubMed ID: 30251955 [TBL] [Abstract][Full Text] [Related]
10. A novel mutation (c.2735_2736delTC) in the androgen receptor gene in 46,XY females with complete androgen insensitivity syndrome in an Egyptian family. Mazen I; Soliman H; El-Gammal M; Torky A; Mekkawy M; Abdel-Hamid MS; Essawi M Horm Res Paediatr; 2014; 82(6):411-4. PubMed ID: 25034089 [TBL] [Abstract][Full Text] [Related]
14. Comparison of the molecular consequences of different mutations at residue 754 and 690 of the androgen receptor (AR) and androgen insensitivity syndrome (AIS) phenotype. Tadokoro R; Bunch T; Schwabe JW; Hughes IA; Murphy JC Clin Endocrinol (Oxf); 2009 Aug; 71(2):253-60. PubMed ID: 19178528 [TBL] [Abstract][Full Text] [Related]
15. Expression of two functionally different androgen receptors in a patient with androgen insensitivity. Holterhus PM; Sinnecker GH; Wollmann HA; Struve D; Homburg N; Kruse K; Hiort O Eur J Pediatr; 1999 Sep; 158(9):702-6. PubMed ID: 10485299 [TBL] [Abstract][Full Text] [Related]
16. AR mutations in 28 patients with androgen insensitivity syndrome (Prader grade 0-3). Wang Y; Gong C; Wang X; Qin M Sci China Life Sci; 2017 Jul; 60(7):700-706. PubMed ID: 28624954 [TBL] [Abstract][Full Text] [Related]
17. Mosaicism due to a somatic mutation of the androgen receptor gene determines phenotype in androgen insensitivity syndrome. Holterhus PM; Brüggenwirth HT; Hiort O; Kleinkauf-Houcken A; Kruse K; Sinnecker GH; Brinkmann AO J Clin Endocrinol Metab; 1997 Nov; 82(11):3584-9. PubMed ID: 9360511 [TBL] [Abstract][Full Text] [Related]
18. Mutations in the amino-terminal domain of the human androgen receptor may be associated with partial androgen insensitivity and impaired transactivation in vitro. Holterhus PM; Werner R; Struve D; Hauffa BP; Schroeder C; Hiort O Exp Clin Endocrinol Diabetes; 2005 Sep; 113(8):457-63. PubMed ID: 16151980 [TBL] [Abstract][Full Text] [Related]
19. Novel point mutation in the splice donor site of exon-intron junction 6 of the androgen receptor gene in a patient with partial androgen insensitivity syndrome. Sammarco I; Grimaldi P; Rossi P; Cappa M; Moretti C; Frajese G; Geremia R J Clin Endocrinol Metab; 2000 Sep; 85(9):3256-61. PubMed ID: 10999818 [TBL] [Abstract][Full Text] [Related]
20. Impaired nuclear translocation, nuclear matrix targeting, and intranuclear mobility of mutant androgen receptors carrying amino acid substitutions in the deoxyribonucleic acid-binding domain derived from androgen insensitivity syndrome patients. Kawate H; Wu Y; Ohnaka K; Tao RH; Nakamura K; Okabe T; Yanase T; Nawata H; Takayanagi R J Clin Endocrinol Metab; 2005 Nov; 90(11):6162-9. PubMed ID: 16118342 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]