Citation: Ia. Hughes, THE MASCULINIZED FEMALE AND INVESTIGATION OF ABNORMAL SEXUAL DEVELOPMENT, Bailliere's clinical endocrinology and metabolism, 12(1), 1998, pp. 157-171
Authors:
LIM HN
FREESTONE SH
ROMERO D
KWOK C
HUGHES IA
HAWKINS JR
Citation: Hn. Lim et al., CANDIDATE GENES IN COMPLETE AND PARTIAL XY SEX REVERSAL - MUTATION ANALYSIS OF SRY, SRY-RELATED GENES AND FTZ-F1, Molecular and cellular endocrinology, 140(1-2), 1998, pp. 51-58
Authors:
MOGHRABI N
HUGHES IA
DUNAIF A
ANDERSSON S
Citation: N. Moghrabi et al., DELETERIOUS MISSENSE MUTATIONS AND SILENT POLYMORPHISM IN THE HUMAN 17-BETA-HYDROXYSTEROID-DEHYDROGENASE-3 GENE (HSD17B3), The Journal of clinical endocrinology and metabolism, 83(8), 1998, pp. 2855-2860
Citation: Cl. Bevan et al., WIDE VARIATION IN ANDROGEN RECEPTOR DYSFUNCTION IN COMPLETE ANDROGEN INSENSITIVITY SYNDROME, Journal of steroid biochemistry and molecular biology, 61(1-2), 1997, pp. 19-26
Authors:
PREMAWARDHANA LDKE
HUGHES IA
READ GF
SCANLON MF
Citation: Ldke. Premawardhana et al., LONGER TERM OUTCOME IN FEMALES WITH CONGENITAL ADRENAL-HYPERPLASIA (CAH) - THE CARDIFF EXPERIENCE, Clinical endocrinology, 46(3), 1997, pp. 327-332
Authors:
DAVIES HR
HUGHES IA
SAVAGE MO
QUIGLEY CA
TRIFIRO M
PINSKY L
BROWN TR
PATTERSON MN
Citation: Hr. Davies et al., ANDROGEN INSENSITIVITY WITH MENTAL-RETARDATION - A CONTIGUOUS GENE SYNDROME, Journal of Medical Genetics, 34(2), 1997, pp. 158-160
Authors:
VINER RM
TEOH Y
WILLIAMS DM
PATTERSON MN
HUGHES IA
Citation: Rm. Viner et al., ANDROGEN INSENSITIVITY SYNDROME - A SURVEY OF DIAGNOSTIC PROCEDURES AND MANAGEMENT IN THE UK, Archives of Disease in Childhood, 77(4), 1997, pp. 305-309
Citation: Sf. Ahmed et al., INITIAL EVALUATION OF CONGENITAL HYPOTHYROIDISM - A SURVEY OF GENERALPEDIATRICIANS IN EAST-ANGLIA, Archives of Disease in Childhood, 77(4), 1997, pp. 339-341
Citation: Baj. Evans et al., PHENOTYPIC DIVERSITY IN SIBLINGS WITH PARTIAL ANDROGEN INSENSITIVITY SYNDROME, Archives of Disease in Childhood, 76(6), 1997, pp. 529-531
Authors:
BEVAN CL
BROWN BB
DAVIES HR
EVANS BAJ
HUGHES IA
PATTERSON MN
Citation: Cl. Bevan et al., FUNCTIONAL-ANALYSIS OF 6 ANDROGEN RECEPTOR MUTATIONS IDENTIFIED IN PATIENTS WITH PARTIAL ANDROGEN INSENSITIVITY SYNDROME, Human molecular genetics, 5(2), 1996, pp. 265-273
Authors:
VINER RM
SHIMURA N
BROWN BD
GREEN AJ
HUGHES IA
Citation: Rm. Viner et al., DOWN-SYNDROME IN ASSOCIATION WITH FEATURES OF THE ANDROGEN INSENSITIVITY SYNDROME, Journal of Medical Genetics, 33(7), 1996, pp. 574-577
Citation: J. Lebl et al., GROWTH-HORMONE AND GROWTH-FACTORS IN ENDOCRINOLOGY AND METABOLISM - PROCEEDINGS OF THE 19TH INTERNATIONAL-SYMPOSIUM HELD IN PRAGUE, CZECH-REPUBLIC 21-22 APRIL 1995 - FOREWORD, Acta paediatrica, 84, 1995, pp. 1-1
Citation: Hr. Davies et al., GENETIC-COUNSELING IN COMPLETE ANDROGEN INSENSITIVITY SYNDROME - TRINUCLEOTIDE REPEAT POLYMORPHISMS, SINGLE-STRAND CONFORMATION POLYMORPHISM AND DIRECT-DETECTION OF 2 NOVEL MUTATIONS IN THE ANDROGEN RECEPTOR GENE, Clinical endocrinology, 43(1), 1995, pp. 69-77
Authors:
PATTERSON MN
BEVAN CL
DAVIES HR
CLARKSON PA
BROWN BD
HUGHES IA
Citation: Mn. Patterson et al., THE ROLE OF THE ANDROGEN RECEPTOR IN MALE SEXUAL-DIFFERENTIATION, Journal of Medical Genetics, 32(2), 1995, pp. 135-135
Authors:
PEARCE SHS
TRUMP D
WOODING C
BESSER GM
CHEW SL
GRANT DB
HEATH DA
HUGHES IA
PATERSON CR
WHYTE MP
THAKKER RV
Citation: Shs. Pearce et al., CALCIUM-SENSING RECEPTOR MUTATIONS IN FAMILIAL BENIGN HYPERCALCEMIA AND NEONATAL HYPERPARATHYROIDISM, The Journal of clinical investigation, 96(6), 1995, pp. 2683-2692