Detalhe da pesquisa
1.
Posttranscriptional Regulation of the Human LDL Receptor by the U2-Spliceosome.
Circ Res
; 130(1): 80-95, 2022 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34809444
2.
APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia.
Int J Mol Sci
; 23(10)2022 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35628605
3.
Autosomal recessive systemic microangiopathy associated with FANCL Fanconi anaemia.
J Neurol Neurosurg Psychiatry
; 95(1): 98-100, 2023 Dec 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37451692
4.
Loss of α1ß1 soluble guanylate cyclase, the major nitric oxide receptor, leads to moyamoya and achalasia.
Am J Hum Genet
; 94(3): 385-94, 2014 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24581742
5.
Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.
Brain
; 138(Pt 8): 2347-58, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26063658
6.
Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia.
Metabolites
; 12(3)2022 Mar 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35323704
7.
DNAJC3 deficiency induces ß-cell mitochondrial apoptosis and causes syndromic young-onset diabetes.
Eur J Endocrinol
; 184(3): 455-468, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33486469
8.
Mutations and variants of ONECUT1 in diabetes.
Nat Med
; 27(11): 1928-1940, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34663987
9.
Convergent evidence identifying MAP/microtubule affinity-regulating kinase 1 (MARK1) as a susceptibility gene for autism.
Hum Mol Genet
; 17(16): 2541-51, 2008 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18492799
10.
Robust physical methods that enrich genomic regions identical by descent for linkage studies: confirmation of a locus for osteogenesis imperfecta.
BMC Genet
; 10: 16, 2009 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-19331686
11.
Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis.
BMC Med Genet
; 8: 74, 2007 Dec 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-18053270
12.
Juvenile-Onset Diabetes and Congenital Cataract: "Double-Gene" Mutations Mimicking a Syndromic Diabetes Presentation.
Genes (Basel)
; 8(11)2017 Nov 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29112131
13.
dUTPase (DUT) Is Mutated in a Novel Monogenic Syndrome With Diabetes and Bone Marrow Failure.
Diabetes
; 66(4): 1086-1096, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28073829
14.
Structural clusters of evolutionary trace residues are statistically significant and common in proteins.
J Mol Biol
; 316(1): 139-54, 2002 Feb 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-11829509
15.
Lysine 270 in the third intracellular domain of the oxytocin receptor is an important determinant for G alpha(q) coupling specificity.
Mol Endocrinol
; 16(4): 814-23, 2002 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-11923477
16.
A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly.
Diabetes
; 64(11): 3951-62, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26159176
17.
Evolutionary traces of functional surfaces along G protein signaling pathway.
Methods Enzymol
; 344: 536-56, 2002.
Artigo
em Inglês
| MEDLINE | ID: mdl-11771409
18.
On confidence intervals for genotype relative risks and attributable risks from case parent trio designs for candidate-gene studies.
Hum Hered
; 60(2): 81-8, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-16192736
19.
Evolutionary trace of G protein-coupled receptors reveals clusters of residues that determine global and class-specific functions.
J Biol Chem
; 279(9): 8126-32, 2004 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-14660595
20.
Evolution of neural precursor selection: functional divergence of proneural proteins.
Development
; 131(8): 1679-89, 2004 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15084454