Detalhe da pesquisa
1.
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
Am J Hum Genet
; 108(12): 2368-2384, 2021 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34800363
2.
ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants.
Hum Genomics
; 15(1): 45, 2021 07 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34281620
3.
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.
Genet Med
; 23(7): 1246-1254, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33824500
4.
Lack of association between FTO gene variations and metabolic healthy obese (MHO) phenotype: Tehran Cardio-metabolic Genetic Study (TCGS).
Eat Weight Disord
; 25(1): 25-35, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29525920
5.
Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population.
J Inherit Metab Dis
; 41(6): 1159-1167, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30159852
6.
Reporting the presence of three different diseases causing GJB2 mutations in a consanguineous deaf family.
Int J Audiol
; 53(2): 128-31, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24224790
7.
Heritability of the metabolic syndrome and its components in the Tehran Lipid and Glucose Study (TLGS).
Genet Res (Camb)
; 94(6): 331-7, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23374242
8.
Neonatal Onset of Hemophagocytic Lymphohistiocytosis Due to Prenatal Varicella-Zoster Infection in a Neonate with Griscelli Syndrome Type 2.
Iran J Allergy Asthma Immunol
; 21(4): 488-493, 2022 Aug 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36243938
9.
Low HDL concentration in rs2048327-G carriers can predispose men to develop coronary heart disease: Tehran Cardiometabolic genetic study (TCGS).
Gene
; 778: 145485, 2021 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33581269
10.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-33481221
11.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-35047842
12.
Development of a quantitative real-time PCR assay for detection of unknown alpha-globin gene deletions.
Blood Cells Mol Dis
; 45(1): 58-64, 2010 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20363165
13.
Heterogeneity of hemoglobin h disease in childhood.
N Engl J Med
; 364(21): 2070-1; author reply 2071, 2011 05 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-21612484
14.
Antiinflammatory effect of MigriHeal® in an in vitro inflammatory model of primary mixed glial cells.
Mol Med Rep
; 17(1): 1901-1906, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29138831
15.
Increased Risk of CHD in the Presence of rs7865618 (A allele): Tehran Lipid and Glucose Study.
Arch Iran Med
; 20(3): 153-157, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28287809
16.
Rationale and Design of a Genetic Study on Cardiometabolic Risk Factors: Protocol for the Tehran Cardiometabolic Genetic Study (TCGS).
JMIR Res Protoc
; 6(2): e28, 2017 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28232301
17.
The Relation between Metabolic Syndrome Risk Factors and Genetic Variations of Apolipoprotein V in Relation with Serum Triglyceride and HDL-C Level.
Arch Iran Med
; 19(1): 46-50, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26702748
18.
Low gradient ascites: a seven-year course review.
World J Gastroenterol
; 11(15): 2337-9, 2005 Apr 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-15818749
19.
A Large Cohort Study of Genotype and Phenotype Correlations of Beta- Thalassemia in Iranian Population.
Int J Hematol Oncol Stem Cell Res
; 9(4): 198-202, 2015 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26865931
20.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-25423259