Lista de obras - Masoud Garshasbi - Dominio Público Uruguay

A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability

artículo científico publicado en 2014

A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability

article

A defect in the TUSC3 gene is associated with autosomal recessive mental retardation

artículo científico publicado en 2008

A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation

artículo científico publicado en 2007

A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family

artículo científico publicado en 2020

A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family.

artículo científico publicado en 2013

A novel ISCA2 variant responsible for an early-onset neurodegenerative mitochondrial disorder: a case report of multiple mitochondrial dysfunctions syndrome 4

scientific article published on 06 July 2019

A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family

artículo científico publicado en 2011

An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4.

artículo científico publicado en 2008

Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.

artículo científico publicado en 2010

CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait

artículo científico publicado en 2009

Cohen syndrome diagnosis using whole genome arrays

artículo científico publicado en 2010

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene

artículo científico publicado en 2010

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

artículo científico publicado en 2011

Determination of IL1 R2, ANTXR2, CARD9, and SNAPC4 single nucleotide polymorphisms in Iranian patients with ankylosing spondylitis

artículo científico publicado en 2015

Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 function

artículo científico publicado en 2010

Evaluation of DNMT1 gene expression profile and methylation of its promoter region in patients with ankylosing spondylitis.

artículo científico publicado en 2016

Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.

artículo científico publicado en 2009

Functional Analysis of RELN S2486G Mutation and its Contribution to Pathogenesis of Ankylosing Spondylitis

artículo científico publicado en 2020

Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.

artículo científico publicado en 2006

Homozygous in-frame variant of SCL6A3 causes dopamine transporter deficiency syndrome in a consanguineous family

artículo científico publicado en 2020

Human papillomavirus (HPV) prevalence and types among women attending regular gynecological visit in Tehran, Iran.

artículo científico publicado en 2014

Identification of GJB2 Variants in 75 Unrelated Iranian Autosomal Recessive Non-syndromic Hearing Loss Patients

artículo científico publicado en 2022

Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome

artículo científico publicado en 2008

Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.

artículo científico publicado en 2011

Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy

artículo científico publicado en 2020

Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia.

artículo científico publicado en 2017

Identification of miR-24 and miR-137 as novel candidate multiple sclerosis miRNA biomarkers using multi-staged data analysis protocol

artículo científico publicado en 2017

Identification of novel variants in Iranian consanguineous pedigrees with nonsyndromic hearing loss by next-generation sequencing

scientific article published on 30 August 2020

Isolated Congenital Anosmia and CNGA2 Mutation

artículo científico publicado en 2017

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration.

artículo científico publicado en 2015

Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans

scientific journal article

Mutations in NSUN2 cause autosomal-recessive intellectual disability.

artículo científico publicado en 2012

Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability

article

Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.

artículo científico publicado en 2011

Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability

scientific journal article

Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability

scientific journal article

New kid on the ID block: neural functions of the Nab2/ZC3H14 class of Cys₃His tandem zinc-finger polyadenosine RNA binding proteins

artículo científico publicado en 2012

Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3

artículo científico publicado en 2010

Non-Coding RNAs in Cartilage Development: An Updated Review

artículo científico publicado en 2019

Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a case report

artículo científico publicado en 2018

Novel compound heterozygous variants in XYLT1 gene caused Desbuquois dysplasia type 2 in an aborted fetus: a case report

scientific article published on 26 January 2022

Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss

scientific article published on 18 November 2020

Novel imaging and clinical phenotypes of CONDSIAS disorder caused by a homozygous frameshift variant of ADPRHL2: a case report

scientific article published on 03 August 2020

Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report

article

PTRHD1 (C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism

artículo científico publicado en 2016

Pharmacogenetics and Personalized Medicine in Pancreatic Cancer

artículo científico publicado en 2017

SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly

artículo científico publicado en 2005

ST3GAL3 mutations impair the development of higher cognitive functions.

artículo científico publicado en 2011

Somatic mutation profiles of MSI and MSS colorectal cancer identified by whole exome next generation sequencing and bioinformatics analysis

artículo científico publicado en 2010

Structural model of the OPA1 GTPase domain may explain the molecular consequences of a novel mutation in a family with autosomal dominant optic atrophy

scientific article published on 12 May 2006

The first case of NSHL by direct impression on EYA1 gene and identification of one novel mutation in MYO7A in the Iranian families.

artículo científico publicado en 2018

Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome

scientific article published on 19 May 2020

Whole-exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis

scientific article published on 15 January 2020

Whole-exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3

artículo científico publicado en 2021

Whole-exome sequencing identifies R1279X of MYH6 gene to be associated with congenital heart disease.

artículo científico publicado en 2018

alpha-globin gene deletion and point mutation analysis among in Iranian patients with microcytic hypochromic anemia

artículo científico publicado en 2003

miR-31 and miR-145 as Potential Non-Invasive Regulatory Biomarkers in Patients with Endometriosis

artículo científico publicado en 2017

Lista de obras de Masoud Garshasbi

A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability

A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability

A defect in the TUSC3 gene is associated with autosomal recessive mental retardation

A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation

A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family

A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family.

A novel ISCA2 variant responsible for an early-onset neurodegenerative mitochondrial disorder: a case report of multiple mitochondrial dysfunctions syndrome 4

A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family

An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4.

Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.

CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait

Cohen syndrome diagnosis using whole genome arrays

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Determination of IL1 R2, ANTXR2, CARD9, and SNAPC4 single nucleotide polymorphisms in Iranian patients with ankylosing spondylitis

Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 function

Evaluation of DNMT1 gene expression profile and methylation of its promoter region in patients with ankylosing spondylitis.

Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.

Functional Analysis of RELN S2486G Mutation and its Contribution to Pathogenesis of Ankylosing Spondylitis

Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.

Homozygous in-frame variant of SCL6A3 causes dopamine transporter deficiency syndrome in a consanguineous family

Human papillomavirus (HPV) prevalence and types among women attending regular gynecological visit in Tehran, Iran.

Identification of GJB2 Variants in 75 Unrelated Iranian Autosomal Recessive Non-syndromic Hearing Loss Patients

Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome

Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.

Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy

Identification of a novel mutation in the APTX gene associated with ataxia-oculomotor apraxia.

Identification of miR-24 and miR-137 as novel candidate multiple sclerosis miRNA biomarkers using multi-staged data analysis protocol

Identification of novel variants in Iranian consanguineous pedigrees with nonsyndromic hearing loss by next-generation sequencing

Isolated Congenital Anosmia and CNGA2 Mutation

Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration.

Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans

Mutations in NSUN2 cause autosomal-recessive intellectual disability.

Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability

Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.

Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability

Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability

New kid on the ID block: neural functions of the Nab2/ZC3H14 class of Cys₃His tandem zinc-finger polyadenosine RNA binding proteins

Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3

Non-Coding RNAs in Cartilage Development: An Updated Review

Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a case report

Novel compound heterozygous variants in XYLT1 gene caused Desbuquois dysplasia type 2 in an aborted fetus: a case report

Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss

Novel imaging and clinical phenotypes of CONDSIAS disorder caused by a homozygous frameshift variant of ADPRHL2: a case report

Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report

PTRHD1 (C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism

Pharmacogenetics and Personalized Medicine in Pancreatic Cancer

SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly

ST3GAL3 mutations impair the development of higher cognitive functions.

Somatic mutation profiles of MSI and MSS colorectal cancer identified by whole exome next generation sequencing and bioinformatics analysis

Structural model of the OPA1 GTPase domain may explain the molecular consequences of a novel mutation in a family with autosomal dominant optic atrophy

The first case of NSHL by direct impression on EYA1 gene and identification of one novel mutation in MYO7A in the Iranian families.

Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome

Whole-exome sequencing identified a novel variant in an Iranian patient affected by pycnodysostosis

Whole-exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3

Whole-exome sequencing identifies R1279X of MYH6 gene to be associated with congenital heart disease.

alpha-globin gene deletion and point mutation analysis among in Iranian patients with microcytic hypochromic anemia

miR-31 and miR-145 as Potential Non-Invasive Regulatory Biomarkers in Patients with Endometriosis

miR-31 and miR-145 as Potential Non-Invasive Regulatory Biomarkers in Patients with Endometriosis