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
Inglês
| MEDLINE | ID: mdl-36966951
2.
A founder DBR1 variant causes a lethal form of congenital ichthyosis.
Hum Genet
; 142(10): 1491-1498, 2023 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-37656279
3.
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene.
J Med Genet
; 59(10): 993-1001, 2022 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-34952832
4.
A homozygous frame-shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features.
Clin Genet
; 101(5-6): 565-570, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35229282
5.
Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities.
Clin Genet
; 101(2): 247-254, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34708404
6.
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
Inglês
| MEDLINE | ID: mdl-35457111
7.
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
Inglês
| MEDLINE | ID: mdl-35457227
8.
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
Inglês
| MEDLINE | ID: mdl-33875846
9.
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
Inglês
| MEDLINE | ID: mdl-33433017
10.
Basic ctDNA Panel Promises Affordable Clinical Validity in Colon Cancer Patients but Not in Pancreas Cancer Patients.
Life (Basel)
; 13(12)2023 Nov 28.
Artigo
Inglês
| MEDLINE | ID: mdl-38137875
11.
TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing.
Neuro Oncol
; 25(6): 1031-1043, 2023 06 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36215168
12.
Immune dysregulation caused by homozygous mutations in CBLB.
J Clin Invest
; 132(20)2022 10 17.
Artigo
Inglês
| MEDLINE | ID: mdl-36006710
13.
PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit Flies.
Biol Psychiatry
; 92(4): 323-334, 2022 08 15.
Artigo
Inglês
| MEDLINE | ID: mdl-35227461
14.
Single-nucleus chromatin accessibility reveals intratumoral epigenetic heterogeneity in IDH1 mutant gliomas.
Acta Neuropathol Commun
; 7(1): 201, 2019 12 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31806013
15.
Suppression of antitumor T cell immunity by the oncometabolite (R)-2-hydroxyglutarate.
Nat Med
; 24(8): 1192-1203, 2018 08.
Artigo
Inglês
| MEDLINE | ID: mdl-29988124
16.
Proximity of AUG sequences to initiation codon in genomic 5' UTR regulates mammalian protein expression.
Gene
; 594(2): 268-271, 2016 Dec 15.
Artigo
Inglês
| MEDLINE | ID: mdl-27613142