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1.
First report of a patient with homozygous hemoglobin Ernz: Evidence to support a non-pathogenic variant.
Blood Cells Mol Dis
; 104: 102797, 2024 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37826942
2.
A decade of molecular preimplantation genetic diagnosis of 350 blastomeres for beta-thalassemia combined with HLA typing, aneuploidy screening and sex selection in Iran.
BMC Pregnancy Childbirth
; 22(1): 330, 2022 Apr 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-35428248
3.
Mutational screening through comprehensive bioinformatics analysis to detect novel germline mutations in the APC gene in patients with familial adenomatous polyposis (FAP).
J Clin Lab Anal
; 35(5): e23768, 2021 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-33769591
4.
Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population.
J Inherit Metab Dis
; 41(6): 1159-1167, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30159852
5.
Autozygosity mapping of methylmalonic acidemia associated genes by short tandem repeat markers facilitates the identification of five novel mutations in an Iranian patient cohort.
Metab Brain Dis
; 33(5): 1689-1697, 2018 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-30022420
6.
A rare form of limb girdle muscular dystrophy (type 2E) seen in an Iranian family detected by autozygosity mapping.
J Neurogenet
; 30(1): 1-4, 2016 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-27276190
7.
GJB2 c.-23+1G>A mutation is second most common mutation among Iranian individuals with autosomal recessive hearing loss.
Eur Arch Otorhinolaryngol
; 272(9): 2255-9, 2015 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-25012701
8.
Reporting the presence of three different diseases causing GJB2 mutations in a consanguineous deaf family.
Int J Audiol
; 53(2): 128-31, 2014 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-24224790
9.
Mutational Analysis and Genotype Investigation of Less Known Gaucher Mutations through Haplotype Analysis in Iranian Gaucher Patients.
Int J Mol Cell Med
; 12(1): 40-50, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37942259
10.
Identification of Novel Mutations in the MMAA and MUT Genes among Methylmalonic Aciduria Families.
Iran Biomed J
; 27(6): 397-403, 2023 Feb 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-38158783
11.
Genetic attributes of Iranian cystic fibrosis patients: the diagnostic efficiency of CFTR mutations in over a decade.
Front Genet
; 14: 1140034, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37274793
12.
Comprehensive Mutation Analysis and Report of 12 Novel Mutations in a Cohort of Patients with Spinal Muscular Atrophy in Iran.
J Mol Neurosci
; 71(11): 2281-2298, 2021 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-33481221
13.
The Spectrum of Pathogenic Variants in Iranian Families with Hemophilia A.
Arch Iran Med
; 24(12): 887-896, 2021 Dec 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-35014236
14.
Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta.
HGG Adv
; 2(4): 100051, 2021 Oct 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-35047842
15.
Investigation of GJB6 large deletions in Iranian patients using quantitative real-time PCR.
Clin Lab
; 56(9-10): 467-71, 2010.
Artículo
en Inglés
| MEDLINE | ID: mdl-21086793
16.
Heterogeneity of hemoglobin h disease in childhood.
N Engl J Med
; 364(21): 2070-1; author reply 2071, 2011 05 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-21612484
17.
Molecular genetic study of Calpainopathy in Iran.
Gene
; 677: 259-265, 2018 Nov 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-30056071
18.
Identification of six novel mutations in Iranian patients with maple syrup urine disease and their in silico analysis.
Mutat Res
; 786: 34-40, 2016 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-26901124
19.
Allelic heterogeneity among Iranian DFNB7/11 families: report of a new Iranian deaf family with TMC1 mutation identified by next-generation sequencing.
Acta Otolaryngol
; 135(2): 125-9, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25423259
20.
Molecular Characterization of QDPR Gene in Iranian Families with BH4 Deficiency: Reporting Novel and Recurrent Mutations.
JIMD Rep
; 21: 123-8, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26006720