Detalhe da pesquisa
1.
Clonal and "Intrinsic" Heterogeneity of Somatic Variants in Microsatellite-Stable Colorectal Carcinomas and Their Metastases.
Lab Invest
; 103(7): 100132, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36966951
2.
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene.
J Med Genet
; 59(10): 993-1001, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34952832
3.
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
Brain
; 144(3): 769-780, 2021 04 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33764426
4.
The Inhibitory Response to PI3K/AKT Pathway Inhibitors MK-2206 and Buparlisib Is Related to Genetic Differences in Pancreatic Ductal Adenocarcinoma Cell Lines.
Int J Mol Sci
; 23(8)2022 Apr 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35457111
5.
Inhibitory Response to CK II Inhibitor Silmitasertib and CDKs Inhibitor Dinaciclib Is Related to Genetic Differences in Pancreatic Ductal Adenocarcinoma Cell Lines.
Int J Mol Sci
; 23(8)2022 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35457227
6.
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.
Genet Med
; 23(6): 1158-1162, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33531666
7.
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Genet Med
; 23(8): 1551-1568, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33875846
8.
Biallelic ZNF335 mutations cause basal ganglia abnormality with progressive cerebral/cerebellar atrophy.
J Neurogenet
; 35(1): 23-28, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33216650
9.
The Rostock International Parkinson's Disease (ROPAD) Study: Protocol and Initial Findings.
Mov Disord
; 36(4): 1005-1010, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33314351
10.
VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features.
Clin Genet
; 97(4): 644-648, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31845315
11.
LRRK2 Loss-of-Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact.
Mov Disord
; 36(4): 1029-1031, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33433017
12.
Novel FANCI mutations in Fanconi anemia with VACTERL association.
Am J Med Genet A
; 170A(2): 386-391, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26590883
13.
Fanconi anemia is associated with a defect in the BRCA2 partner PALB2.
Nat Genet
; 39(2): 159-61, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17200672
14.
Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association.
Hum Mutat
; 36(5): 562-8, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25754594
15.
Microbial contamination and composition of oral samples subjected to clinical whole genome sequencing.
Front Genet
; 14: 1081424, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36824435
16.
Secondary findings in a large Pakistani cohort tested with whole genome sequencing.
Life Sci Alliance
; 6(3)2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36635046
17.
BIRC2-BIRC3 amplification: a potentially druggable feature of a subset of head and neck cancers in patients with Fanconi anemia.
Sci Rep
; 12(1): 45, 2022 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34997070
18.
Immune dysregulation caused by homozygous mutations in CBLB.
J Clin Invest
; 132(20)2022 10 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36006710
19.
Disruption of the Fanconi anemia-BRCA pathway in cisplatin-sensitive ovarian tumors.
Nat Med
; 9(5): 568-74, 2003 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-12692539
20.
Patient-Derived Organotypic Epithelial Rafts Model Phenotypes in Juvenile-Onset Recurrent Respiratory Papillomatosis.
Viruses
; 13(1)2021 Jan 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33418959