Detalhe da pesquisa
1.
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Am J Hum Genet;
111(1): 200-210, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38118446
2.
Characterizing Homozygous Variants in Bardet-Biedl Syndrome-Associated Genes Within Iranian Families: Unveiling a Founder Variant in BBS2, c.471G>A.
Biochem Genet;
2024 Feb 26.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38407766
3.
Production of Duchenne muscular dystrophy cellular model using CRISPR-Cas9 exon deletion strategy.
Mol Cell Biochem;
2023 Jun 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37289342
4.
TMEM263: a novel candidate gene implicated in human autosomal recessive severe lethal skeletal dysplasia.
Hum Genomics;
15(1): 42, 2021 07 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34238371
5.
Investigating the association of Lamotrigine and Phenytoin-induced Stevens-Johnson syndrome/Toxic Epidermal Necrolysis with HLA-B*1502 in Iranian population.
Exp Dermatol;
30(2): 284-287, 2021 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33217035
6.
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants.
Brain;
143(8): 2388-2397, 2020 08 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32705143
7.
Investigation of MYO15A and MYO7A Mutations in Iranian Patients with Nonsyndromic Hearing Loss.
Fetal Pediatr Pathol;
40(2): 121-130, 2021 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31997689
8.
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
Acta Neuropathol;
139(3): 415-442, 2020 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31820119
9.
NR1H4-related Progressive Familial Intrahepatic Cholestasis 5: Further Evidence for Rapidly Progressive Liver Failure.
J Pediatr Gastroenterol Nutr;
70(6): e111-e113, 2020 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32443034
10.
Targeted Mutation Analysis of the SLC26A4, MYO6, PJVK and CDH23 Genes in Iranian Patients with AR Nonsyndromic Hearing Loss.
Fetal Pediatr Pathol;
38(2): 93-102, 2019 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30582396
11.
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.
Brain;
140(4): 940-952, 2017 Apr 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28334956
12.
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.
Neuropediatrics;
48(3): 166-184, 2017 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28561207
13.
Identification of a novel mutation of Platelet-Derived Growth Factor-C (PDGFC) gene in a girl with Non-Syndromic cleft lip and palate.
Gene;
910: 148335, 2024 Jun 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38432532
14.
New advancements in CRISPR based gene therapy of Duchenne muscular dystrophy.
Gene;
867: 147358, 2023 May 30.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36914142
15.
Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals.
Eur J Hum Genet;
31(8): 905-917, 2023 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37188825
16.
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
17.
G-CSF augments the neuroprotective effect of conditioned medium of dental pulp stem cells against hypoxic neural injury in SH-SY5Y cells.
Iran J Basic Med Sci;
24(12): 1743-1752, 2021 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35432810
18.
PLA2G6 gene mutation and infantile neuroaxonal degeneration; report of three cases from Iran.
Iran J Basic Med Sci;
24(9): 1190-1195, 2021 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35083005
19.
TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes.
HGG Adv;
2(1)2021 Jan 14.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33791682
20.
The worldwide frequency of MYO15A gene mutations in patients with non-syndromic hearing loss: A meta-analysis.
Iran J Basic Med Sci;
23(7): 841-848, 2020 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32774803