Detalhe da pesquisa
1.
High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency.
Am J Hum Genet
; 108(8): 1526-1539, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34270938
2.
Otx2b mutant zebrafish have pituitary, eye and mandible defects that model mammalian disease.
Hum Mol Genet
; 29(10): 1648-1657, 2020 06 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32277752
3.
[Genetic factors in hypopituitarism. The role of transcription factors in pituitary hormone deficiency]. / Genetikai tényezok a hypopituitarismus kialakulásában. A transzkripciós faktorok szerepe az agyalapimirigy-elégtelenség hátterében.
Orv Hetil
; 159(7): 278-284, 2018 Feb.
Artigo
em Húngaro
| MEDLINE | ID: mdl-29429351
4.
The pattern of congenital heart defects arising from reduced Tbx5 expression is altered in a Down syndrome mouse model.
BMC Dev Biol
; 15: 30, 2015 Jul 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-26208718
5.
Homozygous CDH2 variant may be associated with hypopituitarism without neurological disorders.
Endocr Connect
; 12(8)2023 Jul 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37166408
6.
Increased total scavenger capacity and decreased liver fat content in rats fed dehydroepiandrosterone and its sulphate on a high-fat diet.
Gerontology
; 57(4): 343-9, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-20881377
7.
Murine SEC24D can substitute functionally for SEC24C during embryonic development.
Sci Rep
; 11(1): 21100, 2021 10 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34702932
8.
The phenotypic spectrum associated with OTX2 mutations in humans.
Eur J Endocrinol
; 185(1): 121-135, 2021 05 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33950863
9.
Polymorphisms of the ApoE, HSD3B1, IL-1beta and p53 genes are associated with the development of early uremic complications in diabetic patients: results of a DNA resequencing array study.
Int J Mol Med
; 23(2): 217-27, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19148546
10.
Parathyroid hormone-dependent hypercalcemia.
Wien Klin Wochenschr
; 121(7-8): 236-45, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19562279
11.
[Extracellular calcium sensing under normal and pathological conditions]. / Az extracelluláris kalciumkoncentráció érzékelése egészséges és kóros állapotokban.
Orv Hetil
; 150(17): 781-90, 2009 Apr 26.
Artigo
em Húngaro
| MEDLINE | ID: mdl-19362934
12.
[Methods for the analysis of large gene deletions and their application in some hereditary diseases]. / A nagy géndeletiók kimutatásának módszerei és alkalmazásuk egyes örökletes betegségekben.
Orv Hetil
; 150(50): 2258-64, 2009 Dec 13.
Artigo
em Húngaro
| MEDLINE | ID: mdl-19951857
13.
Pituitary Transcription Factor Mutations Leading to Hypopituitarism.
Exp Suppl
; 111: 263-298, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31588536
14.
Ser80Ile mutation and a concurrent Pro25Leu variant of the VHL gene in an extended Hungarian von Hippel-Lindau family.
BMC Med Genet
; 9: 29, 2008 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-18416845
15.
Overrepresentation of the N363S variant of the glucocorticoid receptor gene in patients with bilateral adrenal incidentalomas.
J Clin Endocrinol Metab
; 91(7): 2796-9, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16636127
16.
Detection of the Bcl I polymorphism of the glucocorticoid receptor gene by single-tube allele-specific polymerase chain reaction.
J Steroid Biochem Mol Biol
; 100(4-5): 161-6, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16806906
17.
Genotype-phenotype correlations in Hungarian patients with hereditary medullary thyroid cancer.
Wien Klin Wochenschr
; 118(13-14): 417-21, 2006 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-16865647
18.
[Nucleotide sequence variants of the glucocorticoid receptor gene and their significance in determining glucocorticoid sensitivity]. / A glükokortikoidreceptor gén szekvenciavariánsai és jelentoségük a glükokortikoidok iráinti érzékenység meghatározásában.
Orv Hetil
; 147(44): 2107-15, 2006 Nov 05.
Artigo
em Húngaro
| MEDLINE | ID: mdl-17209299
19.
Gene Expression in Mouse Thyrotrope Adenoma: Transcription Elongation Factor Stimulates Proliferation.
Endocrinology
; 157(9): 3631-46, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27580811
20.
ISL1-based LIM complexes control Slit2 transcription in developing cranial motor neurons.
Sci Rep
; 6: 36491, 2016 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27819291