Pesquisa | Secretaria de Estado da Saúde

1.

GDF15 linked to maternal risk of nausea and vomiting during pregnancy.

Fejzo, M; Rocha, N; Cimino, I; Lockhart, S M; Petry, C J; Kay, R G; Burling, K; Barker, P; George, A L; Yasara, N; Premawardhena, A; Gong, S; Cook, E; Rimmington, D; Rainbow, K; Withers, D J; Cortessis, V; Mullin, P M; MacGibbon, K W; Jin, E; Kam, A; Campbell, A; Polasek, O; Tzoneva, G; Gribble, F M; Yeo, G S H; Lam, B Y H; Saudek, V; Hughes, I A; Ong, K K; Perry, J R B; Sutton Cole, A; Baumgarten, M; Welsh, P; Sattar, N; Smith, G C S; Charnock-Jones, D S; Coll, A P; Meek, C L; Mettananda, S; Hayward, C; Mancuso, N; O'Rahilly, S.

Nature ; 625(7996): 760-767, 2024 Jan.

Artigo Inglês | MEDLINE | ID: mdl-38092039

2.

Maternal serum concentrations of bisphenol A and propyl paraben in early pregnancy are associated with male infant genital development.

Fisher, B G; Thankamony, A; Mendiola, J; Petry, C J; Frederiksen, H; Andersson, A M; Juul, A; Ong, K K; Dunger, D B; Hughes, I A; Acerini, C L.

Hum Reprod ; 35(4): 913-928, 2020 04 28.

Artigo Inglês | MEDLINE | ID: mdl-32325494

3.

Which infancy growth parameters are associated with later adiposity? The Cambridge Baby Growth Study.

Ong, Ken K; Cheng, Tuck Seng; Olga, L; Prentice, P M; Petry, C J; Hughes, I A; Dunger, D B.

Ann Hum Biol ; 47(2): 142-149, 2020 Mar.

Artigo Inglês | MEDLINE | ID: mdl-32429763

4.

Prenatal paracetamol exposure is associated with shorter anogenital distance in male infants.

Fisher, B G; Thankamony, A; Hughes, I A; Ong, K K; Dunger, D B; Acerini, C L.

Hum Reprod ; 31(11): 2642-2650, 2016 11.

Artigo Inglês | MEDLINE | ID: mdl-27609981

5.

Consequences of the Chicago DSD Consensus: A Personal Perspective.

Hughes, I A.

Horm Metab Res ; 47(5): 394-400, 2015 May.

Artigo Inglês | MEDLINE | ID: mdl-25750076

6.

Fetally-encoded GDF15 and maternal GDF15 sensitivity are major determinants of nausea and vomiting in human pregnancy.

Fejzo, M; Rocha, N; Cimino, I; Lockhart, S M; Petry, C; Kay, R G; Burling, K; Barker, P; George, A L; Yasara, N; Premawardhena, A; Gong, S; Cook, E; Rainbow, K; Withers, D J; Cortessis, V; Mullin, P M; MacGibbon, K W; Jin, E; Kam, A; Campbell, A; Polasek, O; Tzoneva, G; Gribble, F M; Yeo, Gsh; Lam, Byh; Saudek, V; Hughes, I A; Ong, K K; Perry, Jrb; Sutton Cole, A; Baumgarten, M; Welsh, P; Sattar, N; Smith, Gcs; Charnock Jones, D S; Coll, A P; Meek, C L; Mettananda, S; Hayward, C; Mancuso, N; O'Rahilly, S.

bioRxiv ; 2023 Jun 04.

Artigo Inglês | MEDLINE | ID: mdl-37398065

7.

Lipid ratios representing SCD1, FADS1, and FADS2 activities as candidate biomarkers of early growth and adiposity.

Olga, L; van Diepen, J A; Bobeldijk-Pastorova, I; Gross, G; Prentice, P M; Snowden, S G; Furse, S; Kooistra, T; Hughes, I A; Schoemaker, M H; van Tol, E A F; van Duyvenvoorde, W; Wielinga, P Y; Ong, K K; Dunger, D B; Kleemann, R; Koulman, A.

EBioMedicine ; 63: 103198, 2021 Jan.

Artigo Inglês | MEDLINE | ID: mdl-33421943

8.

Insulin sensitivity and body composition in children with classical and nonclassical congenital adrenal hyperplasia.

Williams, R M; Deeb, A; Ong, K K; Bich, W; Murgatroyd, P R; Hughes, I A; Acerini, C L.

Clin Endocrinol (Oxf) ; 72(2): 155-60, 2010 Feb.

Artigo Inglês | MEDLINE | ID: mdl-19508608

9.

A novel mutation in the human androgen receptor suggests a regulatory role for the hinge region in amino-terminal and carboxy-terminal interactions.

Deeb, A; Jääskeläinen, J; Dattani, M; Whitaker, H C; Costigan, C; Hughes, I A.

J Clin Endocrinol Metab ; 93(10): 3691-6, 2008 Oct.

Artigo Inglês | MEDLINE | ID: mdl-18697867

10.

Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.

Pearce, S H; Trump, D; Wooding, C; Besser, G M; Chew, S L; Grant, D B; Heath, D A; Hughes, I A; Paterson, C R; Whyte, M P.

J Clin Invest ; 96(6): 2683-92, 1995 Dec.

Artigo Inglês | MEDLINE | ID: mdl-8675635

11.

Early management and gender assignment in disorders of sexual differentiation.

Hughes, I A.

Endocr Dev ; 11: 47-57, 2007.

Artigo Inglês | MEDLINE | ID: mdl-17986826

12.

Frequency of gonadal tumours in complete androgen insensitivity syndrome (CAIS): A retrospective case-series analysis.

Chaudhry, S; Tadokoro-Cuccaro, R; Hannema, S E; Acerini, C L; Hughes, I A.

J Pediatr Urol ; 13(5): 498.e1-498.e6, 2017 Oct.

Artigo Inglês | MEDLINE | ID: mdl-28351649

13.

Associations between a fetal imprinted gene allele score and late pregnancy maternal glucose concentrations.

Petry, C J; Mooslehner, K; Prentice, P; Hayes, M G; Nodzenski, M; Scholtens, D M; Hughes, I A; Acerini, C L; Ong, K K; Lowe, W L; Dunger, D B.

Diabetes Metab ; 43(4): 323-331, 2017 Sep.

Artigo Inglês | MEDLINE | ID: mdl-28392167

14.

Human androgen receptor gene ligand-binding-domain mutations leading to disrupted interaction between the N- and C-terminal domains.

Jääskeläinen, J; Deeb, A; Schwabe, J W; Mongan, N P; Martin, H; Hughes, I A.

J Mol Endocrinol ; 36(2): 361-8, 2006 Apr.

Artigo Inglês | MEDLINE | ID: mdl-16595706

15.

Anogenital distance as a marker of androgen exposure in humans.

Thankamony, A; Pasterski, V; Ong, K K; Acerini, C L; Hughes, I A.

Andrology ; 4(4): 616-25, 2016 07.

Artigo Inglês | MEDLINE | ID: mdl-26846869

16.

The Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor Gene.

Lucas-Herald, A; Bertelloni, S; Juul, A; Bryce, J; Jiang, J; Rodie, M; Sinnott, R; Boroujerdi, M; Lindhardt Johansen, M; Hiort, O; Holterhus, P M; Cools, M; Guaragna-Filho, G; Guerra-Junior, G; Weintrob, N; Hannema, S; Drop, S; Guran, T; Darendeliler, F; Nordenstrom, A; Hughes, I A; Acerini, C; Tadokoro-Cuccaro, R; Ahmed, S F.

J Clin Endocrinol Metab ; 101(11): 3959-3967, 2016 Nov.

Artigo Inglês | MEDLINE | ID: mdl-27403927

17.

Identification of an AR Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity.

Hornig, N C; Ukat, M; Schweikert, H U; Hiort, O; Werner, R; Drop, S L S; Cools, M; Hughes, I A; Audi, L; Ahmed, S F; Demiri, J; Rodens, P; Worch, L; Wehner, G; Kulle, A E; Dunstheimer, D; Müller-Roßberg, E; Reinehr, T; Hadidi, A T; Eckstein, A K; van der Horst, C; Seif, C; Siebert, R; Ammerpohl, O; Holterhus, P-M.

J Clin Endocrinol Metab ; 101(11): 4468-4477, 2016 11.

Artigo Inglês | MEDLINE | ID: mdl-27583472

18.

Congenital adrenal hyperplasia.

Hughes, I A.

Trends Endocrinol Metab ; 1(3): 123-8, 1990.

Artigo Inglês | MEDLINE | ID: mdl-18411104

19.

Complete androgen insensitivity due to deletion of exon C of the androgen receptor gene highlights the functional importance of the second zinc finger of the androgen receptor in vivo.

Quigley, C A; Evans, B A; Simental, J A; Marschke, K B; Sar, M; Lubahn, D B; Davies, P; Hughes, I A; Wilson, E M; French, F S.

Mol Endocrinol ; 6(7): 1103-12, 1992 Jul.

Artigo Inglês | MEDLINE | ID: mdl-1508223

20.

Minireview: sex differentiation.

Hughes, I A.

Endocrinology ; 142(8): 3281-7, 2001 Aug.

Artigo Inglês | MEDLINE | ID: mdl-11459768

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GDF15 linked to maternal risk of nausea and vomiting during pregnancy.

Maternal serum concentrations of bisphenol A and propyl paraben in early pregnancy are associated with male infant genital development.

Which infancy growth parameters are associated with later adiposity? The Cambridge Baby Growth Study.

Prenatal paracetamol exposure is associated with shorter anogenital distance in male infants.

Consequences of the Chicago DSD Consensus: A Personal Perspective.

Fetally-encoded GDF15 and maternal GDF15 sensitivity are major determinants of nausea and vomiting in human pregnancy.

Lipid ratios representing SCD1, FADS1, and FADS2 activities as candidate biomarkers of early growth and adiposity.

Insulin sensitivity and body composition in children with classical and nonclassical congenital adrenal hyperplasia.

A novel mutation in the human androgen receptor suggests a regulatory role for the hinge region in amino-terminal and carboxy-terminal interactions.

Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.

Early management and gender assignment in disorders of sexual differentiation.

Frequency of gonadal tumours in complete androgen insensitivity syndrome (CAIS): A retrospective case-series analysis.

Associations between a fetal imprinted gene allele score and late pregnancy maternal glucose concentrations.

Human androgen receptor gene ligand-binding-domain mutations leading to disrupted interaction between the N- and C-terminal domains.

Anogenital distance as a marker of androgen exposure in humans.

The Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor Gene.

Identification of an AR Mutation-Negative Class of Androgen Insensitivity by Determining Endogenous AR Activity.

Congenital adrenal hyperplasia.

Complete androgen insensitivity due to deletion of exon C of the androgen receptor gene highlights the functional importance of the second zinc finger of the androgen receptor in vivo.

Minireview: sex differentiation.