Detalhe da pesquisa
1.
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.
Cell
; 145(4): 513-28, 2011 May 13.
Artigo
Inglês
| MEDLINE | ID: mdl-21565611
2.
KIF1A novel frameshift variant p.(Ser887Profs*64) exhibits clinical heterogeneity in a Pakistani family with hereditary sensory and autonomic neuropathy type IIC.
Int J Neurosci
; : 1-11, 2022 Nov 08.
Artigo
Inglês
| MEDLINE | ID: mdl-36282036
3.
Greig Cephalopolysyndactyly Syndrome: Phenotypic Variability Associated with Variants in Two Different Domains of GLI3.
Klin Padiatr
; 233(2): 53-58, 2021 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-33339065
4.
Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment.
Hum Mol Genet
; 24(11): 3172-80, 2015 Jun 01.
Artigo
Inglês
| MEDLINE | ID: mdl-25701870
5.
Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability.
Am J Hum Genet
; 95(6): 721-8, 2014 Dec 04.
Artigo
Inglês
| MEDLINE | ID: mdl-25480035
6.
Whole exome sequencing identified 1 base pair novel deletion in BCL2-associated athanogene 3 (BAG3) gene associated with severe dilated cardiomyopathy (DCM) requiring heart transplant in multiple family members.
Am J Med Genet A
; 173(3): 699-705, 2017 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-28211974
7.
Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability.
Am J Hum Genet
; 90(5): 856-63, 2012 May 04.
Artigo
Inglês
| MEDLINE | ID: mdl-22541562
8.
Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.
BMC Med Genet
; 16: 41, 2015 Jun 25.
Artigo
Inglês
| MEDLINE | ID: mdl-26104215
9.
Homozygosity mapping of autosomal recessive intellectual disability loci in 11 consanguineous Pakistani families.
Acta Neuropsychiatr
; 27(1): 38-47, 2015 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-25434728
10.
Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family.
Hum Genet
; 133(8): 975-84, 2014 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-24623383
11.
Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder.
Hum Genet
; 133(11): 1419-29, 2014 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-25098561
12.
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.
Am J Hum Genet
; 89(1): 176-82, 2011 Jul 15.
Artigo
Inglês
| MEDLINE | ID: mdl-21763484
13.
Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.
Am J Hum Genet
; 84(4): 519-23, 2009 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-19344874
14.
Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation.
Am J Hum Genet
; 85(6): 909-15, 2009 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-20004765
15.
A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability.
BMC Med Genet
; 12: 56, 2011 Apr 22.
Artigo
Inglês
| MEDLINE | ID: mdl-21513506
16.
Estrogen shields women from COVID-19 complications by reducing ER stress.
Med Hypotheses
; 143: 110148, 2020 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-32759016
17.
Effect of gasotransmitters treatment on expression of hypertension, vascular and cardiac remodeling and hypertensive nephropathy genes in left ventricular hypertrophy.
Gene
; 737: 144479, 2020 May 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32068124
18.
Association analysis between ARG1 gene polymorphisms and idiopathic dilated cardiomyopathy.
Medicine (Baltimore)
; 98(47): e17694, 2019 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-31764771
19.
Ankyrin-B dysfunction predisposes to arrhythmogenic cardiomyopathy and is amenable to therapy.
J Clin Invest
; 129(8): 3171-3184, 2019 07 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31264976
20.
ARG1 Gene Polymorphisms and Their Association in Individuals with Essential Hypertension: A Case-Control Study.
DNA Cell Biol
; 37(7): 609-616, 2018 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-29756997