Detalhe da pesquisa
1.
Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder.
Cell
; 167(6): 1481-1494.e18, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27912058
2.
CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.
Cell
; 157(3): 651-63, 2014 Apr 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-24766810
3.
An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant.
Am J Med Genet A
; 191(6): 1530-1545, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36919607
4.
Investigation of different genomic variants in familial Mediterranean fever cases with monoallelic MEFV mutation.
Clin Exp Rheumatol
; 41(10): 2017-2026, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37140617
5.
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.
J Med Genet
; 59(9): 878-887, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34656997
6.
Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.
Funct Integr Genomics
; 22(3): 291-315, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35098403
7.
Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome.
J Hum Genet
; 67(9): 553-556, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35338243
8.
Further delineation of familial polycystic ovary syndrome (PCOS) via whole-exome sequencing: PCOS-related rare FBN3 and FN1 gene variants are identified.
J Obstet Gynaecol Res
; 48(5): 1202-1211, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35141985
9.
Striatal dopaminergic neurons as a potential target for GDNF based ischemic stroke therapy.
Turk J Med Sci
; 52(1): 248-257, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34773698
10.
METAP1 mutation is a novel candidate for autosomal recessive intellectual disability.
J Hum Genet
; 66(2): 215-218, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32764695
11.
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
12.
Inflammatory Cytokines are in Action: Brain Plasticity and Recovery after Brain Ischemia Due to Delayed Melatonin Administration.
J Stroke Cerebrovasc Dis
; 30(12): 106105, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34547676
13.
Carnosine Protects against Cerebral Ischemic Injury by Inhibiting Matrix-Metalloproteinases.
Int J Mol Sci
; 22(14)2021 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34299128
14.
Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.
Am Heart J
; 225: 108-119, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32480058
15.
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).
J Med Genet
; 56(5): 332-339, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30487245
16.
Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.
Am J Hum Genet
; 99(4): 912-916, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27616480
17.
Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly.
Am J Hum Genet
; 99(2): 501-10, 2016 Aug 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27453578
18.
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.
Am J Hum Genet
; 99(5): 1181-1189, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27773428
19.
Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.
Ann Neurol
; 84(5): 638-647, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30178464
20.
Evidence that melatonin downregulates Nedd4-1 E3 ligase and its role in cellular survival.
Toxicol Appl Pharmacol
; 379: 114686, 2019 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31325559