Detalhe da pesquisa
1.
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Am J Hum Genet
; 109(4): 601-617, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35395208
2.
CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review.
Clin Genet
; 105(3): 294-301, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38044714
3.
De novo KCNA6 variants with attenuated KV 1.6 channel deactivation in patients with epilepsy.
Epilepsia
; 64(2): 443-455, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36318112
4.
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Brain
; 145(9): 2991-3009, 2022 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34431999
5.
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.
Am J Hum Genet
; 101(1): 139-148, 2017 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28686853
6.
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.
Am J Hum Genet
; 97(6): 922-32, 2015 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26637982
7.
GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.
Hum Mutat
; 36(10): 1009-1014, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26173930
8.
Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures.
Am J Med Genet A
; 164A(2): 441-8, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24357076
9.
De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review.
Am J Med Genet A
; 164A(3): 676-84, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24357594
10.
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.
Brain Commun
; 5(5): fcad222, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37794925
11.
Cannabidiol counters the effects of a dominant-negative pathogenic Kv7.2 variant.
iScience
; 25(10): 105092, 2022 Oct 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36157585
12.
Genetic mechanisms of neurodevelopmental disorders.
Handb Clin Neurol
; 173: 307-326, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32958182
13.
Familial neonatal seizures caused by the Kv7.3 selectivity filter mutation T313I.
Epilepsia Open
; 5(4): 562-573, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33336127
14.
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Nat Commun
; 10(1): 883, 2019 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30770872
15.
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Nat Commun
; 10(1): 2079, 2019 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31048695
16.
Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature.
Eur J Hum Genet
; 26(9): 1272-1281, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29904177
17.
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Nat Commun
; 9(1): 4619, 2018 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30397230
18.
Benzethonium chloride: a novel anticancer agent identified by using a cell-based small-molecule screen.
Clin Cancer Res
; 12(18): 5557-69, 2006 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17000693
19.
Potential use of alexidine dihydrochloride as an apoptosis-promoting anticancer agent.
Mol Cancer Ther
; 5(9): 2234-40, 2006 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16985057
20.
The oncogene PDGF-B provides a key switch from cell death to survival induced by TNF.
Oncogene
; 24(19): 3196-205, 2005 Apr 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-15735680