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Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families
Approximately 1% of the global population is affected by intellectual disability (ID), and the majority receive no molecular diagnosis. Previous studies have indicated high levels of geneticExpand
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Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3
As part of a large-scale, systematic effort to unravel the molecular causes of autosomal recessive mental retardation, we have previously described a novel syndrome consisting of mental retardation,Expand
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Mapping Autosomal Recessive Intellectual Disability: Combined Microarray and Exome Sequencing Identifies 26 Novel Candidate Genes in 192 Consanguineous Families
Approximately 1% of the global population is affected by intellectual disability (ID), and the majority receive no molecular diagnosis. Previous studies have indicated high levels of geneticExpand
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Frequencies of Six (Five Novel) STR Markers Linked to TUSC3 (MRT7) or NSUN2 (MRT5) Genes Used for Homozygosity Mapping of Recessive Intellectual Disability.
BACKGROUND Non-syndromic autosomal recessive intellectual disability (NS-ARID) is an extremely heterogeneous genetic disorder. Therefore, to investigate these genes, more research is required. OneExpand
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Identification of six novel mutations in Iranian patients with maple syrup urine disease and their in silico analysis.
Maple syrup urine disease (MSUD) is a rare inborn error of branched-chain amino acid metabolism. The disease prevalence is higher in populations with elevated rate of consanguineous marriages such asExpand
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Molecular Characterization of KRAS, BRAF, and EGFR Genes in Cases with Prostatic Adenocarcinoma; Reporting Bioinformatics Description and Recurrent Mutations.
BACKGROUND Prostate cancer is one of the most common cancers which develops by mutations and/or other genetic alterations in specific genes. Regarding the previous studies in literature predominantExpand
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Alterations of KRAS Exon 2 Codon 12/13 Mutation Status in Prostatic Adenocarcinoma; Bioinformatics Aspects
Prostate cancer is one of the most common cancers which develops by mutations or/and other genetic alterations in specific genes. According to the recent studies there are predominant mutations occurExpand
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Epidemiologic study of dental trauma in patients presenting to the dental clinic of School of Dentistry of Tehran University of Medical Sciences during 2011-2018.
Salehi Shahrabi M Mokhtari S Sharabi M Heidari A Ghadimi S Mosharafian Sh Hoeesin Z 1.Postgraduate student Department of Pediatric Dentistry, Tehran University Of Medical Science, Tehran, Iran. 2.Expand
Revisiting a Complex Rearrangement Involving a 619 Base Pairs Deletion, 6 Nucleotide Insertion Followed by a A > G Substitution Causing β°-Thalassemia
One of the prevalent inherited blood disorders is thalassemia syndrome that characterized by reduction (β+) or absence (β0) of β globin chain synthesis. The β globin (HBB) gene map in the short armExpand
Imatinib independent aberrant methylation of NOV/CCN3 in chronic myelogenous leukemia patients: a mechanism upstream of BCR-ABL1 function?
BackgroundThe NOV gene product, CCN3, has been reported in a diverse range of tumors to serve as a negative growth regulator, while acting as a tumor suppressor in Chronic Myelogenous Leukemia (CML).Expand