Detalhe da pesquisa
1.
Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.
Hum Genet
; 141(3-4): 785-803, 2022 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-34148116
2.
ANXA1 with Anti-Inflammatory Properties Might Contribute to Parkinsonism.
Ann Neurol
; 90(2): 319-323, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34180078
3.
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain
; 144(5): 1422-1434, 2021 06 22.
Artigo
Inglês
| MEDLINE | ID: mdl-33970200
4.
Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy.
Genet Med
; 23(12): 2455-2460, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34385670
5.
Mutational analysis of CYP1B1 gene in Iranian pedigrees with glaucoma reveals known and novel mutations.
Int Ophthalmol
; 41(10): 3269-3276, 2021 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-34019190
6.
A novel splice site mutation in the SDCCAG8 gene in an Iranian family with Bardet-Biedl syndrome.
Int Ophthalmol
; 41(2): 389-397, 2021 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-32926352
7.
COL18A1 is a candidate eye iridocorneal angle-closure gene in humans.
Hum Mol Genet
; 27(21): 3772-3786, 2018 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30007336
8.
Expression analysis and genotyping of DGKZ: a GWAS-derived risk gene for schizophrenia.
Mol Biol Rep
; 46(4): 4105-4111, 2019 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-31087244
9.
The rs1986112 Variant is Associated with Increased RAB8B Gene Expression in Schizophrenic Patients.
Clin Lab
; 65(4)2019 Apr 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30969072
10.
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain
; 144(8): e70, 2021 09 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34480796
11.
The analysis of association between SNCA, HUSEYO and CSMD1 gene variants and Parkinson's disease in Iranian population.
Neurol Sci
; 37(5): 731-6, 2016 May.
Artigo
Inglês
| MEDLINE | ID: mdl-26732583
12.
A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate Atrophy.
J Ophthalmic Vis Res
; 19(1): 118-132, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38638626
13.
A novel mutation in the ALS2 gene in an iranian kurdish family with juvenile amyotrophic lateral sclerosis.
Amyotroph Lateral Scler Frontotemporal Degener
; 24(1-2): 148-151, 2023 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-35852402
14.
Bioinformatic tools to determine the pathogenicity of a missense mutation in PKHD1 in autosomal recessive polycystic kidney disease.
Nephrology (Carlton)
; 22(4): 330-331, 2017 04.
Artigo
Inglês
| MEDLINE | ID: mdl-27595491
15.
Leu226Trp CACNA1A variant associated with juvenile myoclonic epilepsy with and without intellectual disability.
Clin Neurol Neurosurg
; 213: 107108, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34995834
16.
Clinical and molecular spectrum of P/Q type calcium channel Cav2.1 in epileptic patients.
Orphanet J Rare Dis
; 16(1): 461, 2021 11 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34727962
17.
PRDM12 Is Transcriptionally Active and Required for Nociceptor Function Throughout Life.
Front Mol Neurosci
; 14: 720973, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34646120
18.
Incomplete penetrance of MITF gene c.943C>T mutation in an extended family with Waardenburg syndrome type II.
Int J Pediatr Otorhinolaryngol
; 135: 110014, 2020 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-32422366
19.
Whole-exome sequencing identified a novel mutation of MLH1 in an extended family with lynch syndrome.
Genes Dis
; 7(4): 614-619, 2020 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-33335961
20.
Phenotypic and genotypic characterization of families with complex intellectual disability identified pathogenic genetic variations in known and novel disease genes.
Sci Rep
; 10(1): 968, 2020 01 22.
Artigo
Inglês
| MEDLINE | ID: mdl-31969655