Detalhe da pesquisa
1.
Identification of genetic variants and phenotypic characterization of a large cohort of patients with congenital hypopituitarism and related disorders.
Genet Med
; 25(9): 100881, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37165954
2.
Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency.
Genet Med
; 24(2): 384-397, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906446
3.
Congenital growth hormone deficiency associated with hip dysplasia and Legg-Calve-Perthes disease.
Clin Endocrinol (Oxf)
; 94(4): 590-597, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33147364
4.
Transcription factor 7-like 1 is involved in hypothalamo-pituitary axis development in mice and humans.
Proc Natl Acad Sci U S A
; 113(5): E548-57, 2016 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26764381
5.
Pathogenesis of Growth Failure in Rasopathies.
Pediatr Endocrinol Rev
; 16(Suppl 2): 447-458, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-31115196
6.
A novel IGSF1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF1 deficiency syndrome.
Clin Endocrinol (Oxf)
; 89(6): 813-823, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30086211
7.
Evaluation of growth hormone stimulation testing in children.
Clin Endocrinol (Oxf)
; 84(5): 708-14, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26840536
8.
Management of Cushing syndrome in children and adolescents: experience of a single tertiary centre.
Eur J Pediatr
; 175(7): 967-76, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27169546
9.
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.
J Med Genet
; 52(2): 85-94, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25480986
10.
Autosomal Dominant Growth Hormone Deficiency (Type II).
Pediatr Endocrinol Rev
; 12(4): 347-55, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26182479
11.
ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous.
Hum Mol Genet
; 21(16): 3681-94, 2012 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22645276
12.
Cardiovascular risk factors in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Clin Endocrinol (Oxf)
; 80(4): 471-7, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23751160
13.
ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies.
Brain
; 136(Pt 10): 3096-105, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24022475
14.
Increased Wingless (Wnt) signaling in pituitary progenitor/stem cells gives rise to pituitary tumors in mice and humans.
Proc Natl Acad Sci U S A
; 108(28): 11482-7, 2011 Jul 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-21636786
15.
Diagnosis and evaluation of hypogonadism.
Pediatr Endocrinol Rev
; 11 Suppl 2: 214-29, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24683946
16.
Deconvolution analysis of 24-h serum cortisol profiles informs the amount and distribution of hydrocortisone replacement therapy.
Clin Endocrinol (Oxf)
; 78(3): 347-51, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22803584
17.
Effect of growth hormone deficiency on brain structure, motor function and cognition.
Brain
; 135(Pt 1): 216-27, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22120144
18.
Challenges in the care of individuals with severe primary insulin-like growth factor-I deficiency (SPIGFD): an international, multi-stakeholder perspective.
Orphanet J Rare Dis
; 18(1): 312, 2023 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37805563
19.
Key features of puberty onset and progression can help distinguish self-limited delayed puberty from congenital hypogonadotrophic hypogonadism.
Front Endocrinol (Lausanne)
; 14: 1226839, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37701896
20.
Identification of novel pathways involved in the pathogenesis of human adamantinomatous craniopharyngioma.
Acta Neuropathol
; 124(2): 259-71, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22349813