Detalhe da pesquisa
1.
MC3R links nutritional state to childhood growth and the timing of puberty.
Nature
; 599(7885): 436-441, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34732894
2.
BMPRII deficiency impairs apoptosis via the BMPRII-ALK1-BclX-mediated pathway in pulmonary arterial hypertension.
Hum Mol Genet
; 28(13): 2161-2173, 2019 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30809644
3.
Germline CDH1 mutations in bilateral lobular carcinoma in situ.
Br J Cancer
; 110(4): 1053-7, 2014 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-24366306
4.
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Clin Genet
; 84(6): 539-45, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23320472
5.
Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension.
Nat Genet
; 26(1): 81-4, 2000 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-10973254
6.
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.
Nat Genet
; 24(2): 153-6, 2000 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-10655060
7.
Genetic linkage of childhood atopic dermatitis to psoriasis susceptibility loci.
Nat Genet
; 27(4): 372-3, 2001 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-11279517
8.
[Genetic counselling and testing in pulmonary arterial hypertension - A consensus statement on behalf of the International Consortium for Genetic Studies in PAH - French version]. / Conseil génétique et dépistage de l'hypertension artérielle pulmonaire consensus du Consortium international pour les études génétiques dans l'HTAP version française.
Rev Mal Respir
; 40(9-10): 838-852, 2023.
Artigo
em Francês
| MEDLINE | ID: mdl-37923650
9.
Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease.
Mol Genet Metab
; 104(4): 637-43, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21959080
10.
Hidradenitis suppurativa: haploinsufficiency of gamma-secretase components does not affect gamma-secretase enzyme activity in vitro.
Br J Dermatol
; 175(3): 632-5, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27467207
11.
Differential contribution of CDKAL1 variants to psoriasis, Crohn's disease and type II diabetes.
Genes Immun
; 10(7): 654-8, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19587699
12.
Psoriasis is associated with pleiotropic susceptibility loci identified in type II diabetes and Crohn disease.
J Med Genet
; 45(2): 114-6, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17993580
13.
A dual-light reporter system to determine the efficiency of protein-protein interactions in mammalian cells.
Nucleic Acids Res
; 33(7): e66, 2005 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-15824058
14.
Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder.
J Med Genet
; 42(12): e70, 2005 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-16326827
15.
Altered growth responses of pulmonary artery smooth muscle cells from patients with primary pulmonary hypertension to transforming growth factor-beta(1) and bone morphogenetic proteins.
Circulation
; 104(7): 790-5, 2001 Aug 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-11502704
16.
Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene.
Diabetes
; 43(6): 746-51, 1994 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-7910800
17.
Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy.
Diabetes
; 49(11): 1958-62, 2000 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-11078466
18.
Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2).
J Med Genet
; 39(9): 656-60, 2002 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-12205108
19.
Identification of a novel psoriasis susceptibility locus at 1p and evidence of epistasis between PSORS1 and candidate loci.
J Med Genet
; 38(1): 7-13, 2001 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-11134234
20.
A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13.
J Med Genet
; 40(6): 431-5, 2003 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-12807964