Detalhe da pesquisa
1.
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Nature
; 614(7948): 564-571, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36755093
2.
De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
Hum Mol Genet
; 31(3): 440-454, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34505148
3.
Severe manifestation of Rauch-Azzarello syndrome associated with biallelic deletion of CTNND2.
Clin Genet
; 2024 Apr 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38604781
4.
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
Hum Mutat
; 42(6): 762-776, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33847017
5.
A noninvasive diagnostic approach to retrospective donor HLA typing in kidney transplant patients using urine.
Transpl Int
; 34(7): 1226-1238, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33904183
6.
α-Synuclein oligomers induce early axonal dysfunction in human iPSC-based models of synucleinopathies.
Proc Natl Acad Sci U S A
; 115(30): 7813-7818, 2018 07 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-29991596
7.
7q31.2q31.31 deletion downstream of FOXP2 segregating in a family with speech and language disorder.
Am J Med Genet A
; 182(11): 2737-2741, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32885567
8.
Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes.
Clin Genet
; 96(3): 246-253, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31090057
9.
A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings.
Am J Med Genet A
; 179(1): 50-56, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30548383
10.
Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?
Prenat Diagn
; 39(12): 1136-1147, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31498910
11.
FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum.
J Med Genet
; 54(1): 64-72, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27572252
12.
Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.
Int J Cancer
; 140(1): 95-102, 2017 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27616075
13.
Haploinsufficiency of NR4A2 is associated with a neurodevelopmental phenotype with prominent language impairment.
Am J Med Genet A
; 173(8): 2231-2234, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28544326
14.
Clinical and molecular delineation of spondylocostal dysostosis type 3.
Clin Genet
; 99(6): 851-852, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33728697
15.
Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations.
Int J Cancer
; 136(6): E559-68, 2015 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25142776
16.
Expanding the phenotype of 12q21 deletions: A role of BTG1 in speech development?
Eur J Med Genet
; 66(4): 104717, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36746366
17.
Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay.
Eur J Med Genet
; 66(1): 104669, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36379434
18.
Different MAPT haplotypes influence expression of total MAPT in postmortem brain tissue.
Acta Neuropathol Commun
; 11(1): 40, 2023 03 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36906636
19.
De novo triplication of the MAPT gene from the recurrent 17q21.31 microdeletion region in a patient with moderate intellectual disability and various minor anomalies.
Am J Med Genet A
; 158A(7): 1765-70, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22678764
20.
Generation of a homozygous and a heterozygous SNCA gene knockout human-induced pluripotent stem cell line by CRISPR/Cas9 mediated allele-specific tuning of SNCA expression.
Stem Cell Res
; 65: 102952, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36283273