Detalhe da pesquisa
1.
Genetic and chemotherapeutic influences on germline hypermutation.
Nature
; 605(7910): 503-508, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35545669
2.
RERE deficiency contributes to the development of orofacial clefts in humans and mice.
Hum Mol Genet
; 30(7): 595-602, 2021 05 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33772547
3.
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum.
Clin Genet
; 104(2): 186-197, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37165752
4.
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.
J Med Genet
; 59(8): 737-747, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34716235
5.
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain
; 144(5): 1422-1434, 2021 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33970200
6.
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Am J Hum Genet
; 100(1): 75-90, 2017 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28041643
7.
Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.
Clin Genet
; 95(6): 693-703, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30859559
8.
Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Prenat Diagn
; 38(1): 33-43, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29096039
9.
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain
; 144(8): e70, 2021 09 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34480796
10.
Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patients.
Eur J Med Genet
; 66(4): 104714, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36724812
11.
Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature.
Eur J Hum Genet
; 30(1): 95-100, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34645992
12.
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
Genome Med
; 14(1): 62, 2022 06 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35698242
13.
A potential role for the clathrin adaptor GGA in Drosophila spermatogenesis.
BMC Cell Biol
; 12: 22, 2011 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-21599933
14.
Site-specific conjugation of monodispersed DOTA-PEGn to a thiolated diabody reveals the effect of increasing peg size on kidney clearance and tumor uptake with improved 64-copper PET imaging.
Bioconjug Chem
; 22(4): 709-16, 2011 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-21395337
15.
Huntington's disease: from pathology and genetics to potential therapies.
Biochem J
; 412(2): 191-209, 2008 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18466116
16.
Huntington's disease: molecular basis of neurodegeneration.
Expert Rev Mol Med
; 5(20): 1-21, 2003 Aug 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-14585171
17.
The bacterial chaperonin GroEL requires GroES to reduce aggregation and cell death in a COS-7 cell model of Huntington's disease.
Neurosci Lett
; 330(3): 270-4, 2002 Sep 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-12270644
18.
Genetic defects of human brain development.
Curr Neurol Neurosci Rep
; 6(5): 437-46, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16928355
19.
Glycogen synthase kinase-3beta inhibitors prevent cellular polyglutamine toxicity caused by the Huntington's disease mutation.
J Biol Chem
; 277(37): 33791-8, 2002 Sep 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-12097329
20.
Heat shock protein 27 prevents cellular polyglutamine toxicity and suppresses the increase of reactive oxygen species caused by huntingtin.
Hum Mol Genet
; 11(9): 1137-51, 2002 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-11978772