Detalles de la búsqueda
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.
Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa.
Exp Dermatol
; 28(10): 1118-1121, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-29364557
3.
Genetic testing of Mucopolysaccharidoses disease using multiplex PCR- based panels of STR markers: in silico analysis of novel mutations.
Metab Brain Dis
; 34(5): 1447-1455, 2019 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-31236806
4.
Maple syrup urine disease mutation spectrum in a cohort of 40 consanguineous patients and insilico analysis of novel mutations.
Metab Brain Dis
; 34(4): 1145-1156, 2019 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-31119508
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.
Artículo
en Inglés
| 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.
Artículo
en Inglés
| MEDLINE | ID: mdl-30022420
7.
In silico analysis of novel mutations in maple syrup urine disease patients from Iran.
Metab Brain Dis
; 32(1): 105-113, 2017 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-27507644
8.
Hyaline Fibromatosis Syndrome: A Novel Mutation and Recurrent Founder Mutation in the CMG2/ANTXR2 Gene.
Acta Derm Venereol
; 97(1): 108-109, 2017 01 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-27174544
9.
Prenatal diagnosis of citrullinemia type 1; seven families with c.1168G > A mutation of Argininosuccinate synthetase 1 gene in Southwest Iran: A case series.
Int J Reprod Biomed
; 20(12): 1047-1050, 2022 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-36819208
10.
Hints From the Cellular Functions to the Practical Outlook of Circular RNAs.
Front Genet
; 12: 679446, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34220952
11.
Comprehensive transcriptome mining identified the gene expression signature and differentially regulated pathways of the late-onset preeclampsia.
Pregnancy Hypertens
; 25: 91-102, 2021 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-34098523
12.
An Infertile Azoospermic Male With 45, X T(Yp;15) Karyotype.
J Family Reprod Health
; 15(4): 271-274, 2021 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-35340802
13.
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
14.
Whole-Exome Sequencing Uncovers Novel Causative Variants and Additional Findings in Three Patients Affected by Glycogen Storage Disease Type VI and Fanconi-Bickel Syndrome.
Front Genet
; 11: 601566, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-33505429
15.
Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b).
Orphanet J Rare Dis
; 15(1): 35, 2020 01 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-32005221
16.
Development and validation of a novel panel of 16 STR markers for simultaneous diagnosis of ß-thalassemia, aneuploidy screening, maternal cell contamination detection and fetal sample authenticity in PND and PGD/PGS cases.
Sci Rep
; 9(1): 7452, 2019 05 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-31092881
17.
Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.
Matrix Biol
; 66: 22-33, 2018 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-29138120
18.
Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages.
J Invest Dermatol
; 137(3): 660-669, 2017 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-27899325
19.
Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity.
J Invest Dermatol
; 137(3): 678-685, 2017 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-27884779
20.
Co-existence of phenylketonuria either with maple syrup urine disease or Sandhoff disease in two patients from Iran: emphasizing the role of consanguinity.
J Pediatr Endocrinol Metab
; 29(10): 1215-1219, 2016 Oct 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27682710