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
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
Inglês
| MEDLINE | ID: mdl-34906446
3.
Prolonged QT predicts prognosis in COVID-19.
Pacing Clin Electrophysiol
; 44(5): 875-882, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33792080
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
Inglês
| MEDLINE | ID: mdl-26764381
5.
Maternal Obesity during Pregnancy Alters Daily Activity and Feeding Cycles, and Hypothalamic Clock Gene Expression in Adult Male Mouse Offspring.
Int J Mol Sci
; 20(21)2019 Oct 30.
Artigo
Inglês
| MEDLINE | ID: mdl-31671625
6.
HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype.
Clin Endocrinol (Oxf)
; 85(3): 408-14, 2016 09.
Artigo
Inglês
| MEDLINE | ID: mdl-27000987
7.
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.
J Med Genet
; 52(2): 85-94, 2015 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-25480986
8.
A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia.
J Clin Invest
; 131(24)2021 12 15.
Artigo
Inglês
| MEDLINE | ID: mdl-34730112
9.
The phenotypic spectrum associated with OTX2 mutations in humans.
Eur J Endocrinol
; 185(1): 121-135, 2021 05 25.
Artigo
Inglês
| MEDLINE | ID: mdl-33950863
10.
Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans.
Nat Commun
; 12(1): 2028, 2021 04 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33795686
11.
The Molecular Basis of Congenital Hypopituitarism and Related Disorders.
J Clin Endocrinol Metab
; 105(6)2020 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31702014
12.
Development of the Pituitary Gland.
Compr Physiol
; 10(2): 389-413, 2020 03 12.
Artigo
Inglês
| MEDLINE | ID: mdl-32163208
13.
Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism.
J Clin Endocrinol Metab
; 105(6)2020 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32060556
14.
Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis.
J Clin Endocrinol Metab
; 104(12): 5737-5750, 2019 12 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31504653
15.
Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation.
EBioMedicine
; 42: 470-480, 2019 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-30878599
16.
Partial Loss of Function of the GHRH Receptor Leads to Mild Growth Hormone Deficiency.
J Clin Endocrinol Metab
; 101(10): 3608-3615, 2016 10.
Artigo
Inglês
| MEDLINE | ID: mdl-27501283
17.
Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD).
Mol Cell Endocrinol
; 417: 63-72, 2015 Dec 05.
Artigo
Inglês
| MEDLINE | ID: mdl-26375424
18.
Structural pituitary abnormalities associated with CHARGE syndrome.
J Clin Endocrinol Metab
; 98(4): E737-43, 2013 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23526466
19.
Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia.
J Clin Endocrinol Metab
; 98(3): E547-57, 2013 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-23386640
20.
Pituitary gland development: an update.
Endocr Dev
; 23: 1-15, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-23182816