Detalhe da pesquisa
1.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Am J Hum Genet
; 108(3): 502-516, 2021 03 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33596411
2.
Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant.
Am J Med Genet A
; : e63627, 2024 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38613168
3.
Reversing vemurafenib-resistance in primary melanoma cells by combined romidepsin and type I IFN treatment through blocking of tumorigenic signals and induction of immunogenic effects.
Int J Cancer
; 153(5): 1080-1095, 2023 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37293858
4.
Biallelic Inactivating TUB Variants Cause Retinal Ciliopathy Impairing Biogenesis and the Structure of the Primary Cilium.
Int J Mol Sci
; 23(23)2022 Nov 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36498982
5.
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes.
Am J Med Genet A
; 185(10): 3153-3160, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34159694
6.
Skeletal abnormalities are common features in Aymé-Gripp syndrome.
Clin Genet
; 97(2): 362-369, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31600839
7.
The activating p.Ser466Arg change in STAT1 causes a peculiar phenotype with features of interferonopathies.
Clin Genet
; 96(6): 585-589, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31448411
8.
Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome.
Hum Mutat
; 39(7): 959-964, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29737001
9.
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.
Am J Hum Genet
; 96(5): 816-25, 2015 May 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25865493
10.
Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum.
Hum Mutat
; 38(7): 798-804, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28390077
11.
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.
Hum Mol Genet
; 23(13): 3607-17, 2014 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24556213
12.
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis.
Hum Mol Genet
; 23(16): 4315-27, 2014 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24705357
13.
Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A.
Am J Med Genet A
; 170(9): 2389-93, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27320412
14.
Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.
Hum Mutat
; 36(8): 787-96, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25952305
15.
Mutations in PAX2 associate with adult-onset FSGS.
J Am Soc Nephrol
; 25(9): 1942-53, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24676634
16.
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.
Am J Hum Genet
; 87(2): 250-7, 2010 Aug 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-20619386
17.
Critical role of IRF-8 in negative regulation of TLR3 expression by Src homology 2 domain-containing protein tyrosine phosphatase-2 activity in human myeloid dendritic cells.
J Immunol
; 186(4): 1951-62, 2011 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21220691
18.
Human papillomavirus type 16 E5 protein induces expression of beta interferon through interferon regulatory factor 1 in human keratinocytes.
J Virol
; 85(10): 5070-80, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21389130
19.
Myelin like electrogenic filamentation and Liquid Microbial Fuel Cells Dataset.
Data Brief
; 43: 108447, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35864873
20.
An integrated approach identifies IFN-regulated microRNAs and targeted mRNAs modulated by different HCV replicon clones.
BMC Genomics
; 12: 485, 2011 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-21970718