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1.
Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE-diagnosis study (IMPRESsion).
Hum Mutat
; 43(4): e1-e23, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35005816
2.
Identification of eleven different mutations including six novel, in the arylsulfatase B gene in Iranian patients with mucopolysaccharidosis type VI.
Mol Biol Rep
; 46(3): 3417-3426, 2019 Jun.
Article
in English
| MEDLINE | ID: mdl-30982216
3.
Molecular investigation of mutations in androgen receptor and 5-alpha-reductase-2 genes in 46,XY Disorders of Sex Development with normal testicular development.
Andrologia
; 51(5): e13250, 2019 Jun.
Article
in English
| MEDLINE | ID: mdl-30815925
4.
Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome.
Diabetologia
; 61(5): 1027-1036, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29450569
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.
Article
in English
| MEDLINE | ID: mdl-30159852
6.
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.
Article
in English
| MEDLINE | ID: mdl-30022420
7.
Genetic study of the PAH locus in the Iranian population: familial gene mutations and minihaplotypes.
Metab Brain Dis
; 32(5): 1685-1691, 2017 10.
Article
in English
| MEDLINE | ID: mdl-28676969
8.
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.
Int J Mol Sci
; 18(3)2017 Mar 15.
Article
in English
| MEDLINE | ID: mdl-28294978
9.
Assessment of Vitamin D Status and Response to Vitamin D3 in Obese and Non-Obese Iranian Children.
J Trop Pediatr
; 62(4): 269-75, 2016 08.
Article
in English
| MEDLINE | ID: mdl-26995012
10.
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.
Article
in English
| MEDLINE | ID: mdl-37942259
11.
Identification of Novel Mutations in the MMAA and MUT Genes among Methylmalonic Aciduria Families.
Iran Biomed J
; 27(6): 397-403, 2023 Feb 12.
Article
in English
| MEDLINE | ID: mdl-38158783
12.
Early and delayed puberty among Iranian children with obesity.
Minerva Endocrinol (Torino)
; 47(2): 167-171, 2022 06.
Article
in English
| MEDLINE | ID: mdl-32744439
13.
Molecular and clinical characterization of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) in Iranian non-Jewish patients: report of two novel AIRE gene pathogenic variants.
Orphanet J Rare Dis
; 17(1): 10, 2022 01 06.
Article
in English
| MEDLINE | ID: mdl-34991662
14.
Mesenchymal stem cell transplantation in newly diagnosed type-1 diabetes patients: a phase I/II randomized placebo-controlled clinical trial.
Stem Cell Res Ther
; 13(1): 264, 2022 06 20.
Article
in English
| MEDLINE | ID: mdl-35725652
15.
The treatment and clinical follow-up outcome in Iranian patients with tetrahydrobiopterin deficiency.
J Pediatr Endocrinol Metab
; 34(9): 1157-1167, 2021 Sep 27.
Article
in English
| MEDLINE | ID: mdl-34214291
16.
p.Gln318X and p.Val281Leu as the Major Variants of CYP21A2 Gene in Children with Idiopathic Premature Pubarche.
Int J Endocrinol
; 2020: 4329791, 2020.
Article
in English
| MEDLINE | ID: mdl-32714392
17.
Health-related quality of life of parents of children with phenylketonuria in Tehran Province, Islamic Republic of Iran.
East Mediterr Health J
; 26(3): 331-339, 2020 Mar 24.
Article
in English
| MEDLINE | ID: mdl-32281643
18.
Role of vitamin D and vitamin D receptor gene polymorphisms on residual beta cell function in children with type 1 diabetes mellitus.
Pharmacol Rep
; 71(2): 282-288, 2019 Apr.
Article
in English
| MEDLINE | ID: mdl-30826568
19.
Can untreated PKU patients escape from intellectual disability? A systematic review.
Orphanet J Rare Dis
; 13(1): 149, 2018 08 29.
Article
in English
| MEDLINE | ID: mdl-30157945
20.
Diagnosing Mucopolysaccharidosis type IV a by the fluorometric assay of N-Acetylgalactosamine-6-sulfate sulfatase activity.
J Diabetes Metab Disord
; 16: 37, 2017.
Article
in English
| MEDLINE | ID: mdl-28904929