Lista de obras -

A Novel Deletion Mutation in ASPM Gene in an Iranian Family with Autosomal Recessive Primary Microcephaly

artículo científico publicado en 2013

A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.

artículo científico publicado en 2010

A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran

scientific article published on 17 August 2012

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 large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family.

artículo científico publicado en 2009

A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.

artículo científico publicado en 2013

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 DFNA5 mutation does not cause hearing loss in an Iranian family.

artículo científico publicado en 2007

A novel mutation adjacent to the Bth mouse mutation in the TMC1 gene makes this mouse an excellent model of human deafness at the DFNA36 locus.

artículo científico publicado en 2010

A novel mutation in MCPH1 gene in an Iranian family with primary microcephaly

artículo científico publicado el 1 de noviembre de 2012

A novel mutation of the USH2C (GPR98) gene in an Iranian family with Usher syndrome type II.

artículo científico publicado en 2014

A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family.

artículo científico publicado en 2009

ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.

artículo científico publicado en 2017

Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options

artículo científico publicado en 2015

Alopecia-mental retardation syndrome: clinical and molecular characterization of four patients.

artículo científico publicado en 2008

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

Association of polymorphisms at LDLR locus with coronary artery disease independently from lipid profile

artículo científico publicado en 2014

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

BOD1 Is Required for Cognitive Function in Humans and Drosophila.

artículo científico publicado en 2016

Biallelic missense variants in ZBTB11 can cause intellectual disability in humans

artículo científico publicado en 2018

CDC14A Phosphatase is Essential for Hearing and Male Fertility in Mouse and Human.

artículo científico publicado en 2017

CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival

artículo científico publicado en 2017

CTG expansion & haplotype analysis in DM1 gene in healthy Iranian population.

artículo científico publicado en 2008

Carrier Testing in Known Autosomal Recessive Intellectual Disability Genes in an Iranian Healthy Individual Using Exome Sequencing.

artículo científico publicado en 2015

Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Iranian population.

artículo científico publicado en 2009

Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran

artículo científico publicado en 2015

Chromosome abnormality rate among Iranian patients with idiopathic mental retardation from consanguineous marriages.

artículo científico publicado en 2011

Comprehensive Genotype-Phenotype Correlation in AP-4 Deficiency Syndrome; Adding Data from a Large Cohort of Iranian Patients

artículo científico publicado en 2020

Correction: A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

scientific article published in PLoS ONE

Correlation between distribution of muscle weakness, electrophysiological findings and CTG expansion in myotonic dystrophy

artículo científico publicado en 2013

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.

artículo científico publicado en 2016

Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia

artículo científico

Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran

artículo científico publicado en 2021

Exonic mutations and exon skipping: Lessons learned from DFNA5.

artículo científico publicado en 2017

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

artículo científico publicado en 2009

Finding mutation within non-coding region of GJB2 reveals its importance in genetic testing of hearing loss in Iranian population.

artículo científico publicado en 2014

Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the Iranian population.

artículo científico publicado en 2009

G130V de novo mutation in an Iranian pedigree with nonsyndromic hearing loss without palmoplantar keratoderma

artículo científico publicado en 2019

GJB2 mutations: passage through Iran

artículo científico publicado en 2005

GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability

artículo científico publicado en 2018

Genetic Investigation of an Iranian Supercentenarian by Whole Exome Sequencing.

artículo científico publicado en 2015

Genetic male infertility and mutation of CATSPER ion channels.

artículo científico publicado en 2010

Genetics of intellectual disability in consanguineous families

artículo científico publicado en 2018

Genetics of non-syndromic hearing loss in the Middle East.

artículo científico

Genotype and phenotype analysis of 43 Iranian facioscapulohumeral muscular dystrophy patients; Evidence for anticipation

artículo científico publicado en 2018

Hb Dhonburi (Neapolis) [beta126(H4)Val-->Gly] identified in a family from northern Iran

artículo científico publicado en 2004

High prevalence of the -alpha3.7 deletion among thalassemia patients in Iran

scientific article published on 01 February 2003

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 Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

artículo científico publicado en 2017

Homozygous variants in the gene SCAPER cause syndromic intellectual disability

artículo científico publicado en 2019

Human male infertility caused by mutations in the CATSPER1 channel protein

artículo científico publicado en 2009

Identification of Chromosome Abnormalities in Subtelomeric Regions Using Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 Iranian Patients With Idiopathic Mental Retardation

artículo científico publicado en 2013

Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.

artículo científico publicado en 2008

Identification of a founder mutation for Pendred syndrome in families from northwest Iran

artículo científico publicado en 2014

Identification of disease-causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families

artículo científico publicado en 2019

Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation

artículo científico publicado en 2009

Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus.

artículo científico publicado en 2007

Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa

artículo científico publicado en 2015

Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population

artículo científico publicado en 2016

Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutations.

artículo científico publicado en 2014

Interstitial deletion of the short arm of chromosome 10 del(10)(p11.2p12.32) in a patient with congenital heart disease, minor dysmorphism, and mental retardation

artículo científico publicado en 2008

Investigation of ATP6V1B1 and ATP6V0A4 genes causing hereditary hearing loss associated with distal renal tubular acidosis in Iranian families.

artículo científico publicado en 2014

Investigation of genetic causes of intellectual disability in kerman province, South East of iran ⬇️

artículo científico publicado el 1 de febrero de 2012

LGMD2E is the most common type of sarcoglycanopathies in the Iranian population

artículo científico publicado en 2017

M-banding characterization of a 16p11.2p13.1 tandem duplication in a child with autism, neurodevelopmental delay and dysmorphism.

artículo científico publicado en 2008

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

artículo científico publicado en 2015

Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum

scientific article published on 01 July 2020

Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus

artículo científico publicado en 2005

Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes

artículo científico publicado en 2014

Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans

artículo científico publicado en 2009

Mutations in NSUN2 cause autosomal-recessive intellectual disability.

artículo científico publicado en 2012

Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population.

artículo científico publicado en 2010

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 first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss.

artículo científico publicado en 2009

New evidence for the role of calpain 10 in autosomal recessive intellectual disability: identification of two novel nonsense variants by exome sequencing in Iranian families.

artículo científico publicado en 2015

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

Novel mutations in MYTH4-FERM domains of myosin 15 are associated with autosomal recessive nonsyndromic hearing loss

scientific article published on 23 November 2018

Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment

artículo científico publicado en 2018

PDZD7 and hearing loss: More than just a modifier

artículo científico publicado en 2015

Phenotype and genotype spectrum of variants in guanine nucleotide exchange factor genes in a broad cohort of Iranian patients

artículo científico publicado en 2022

Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations.

artículo científico publicado en 2016

Report of a patient with limb-girdle muscular dystrophy, ptosis and ophthalmoparesis caused by plectinopathy.

artículo científico publicado en 2015

Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene.

artículo científico publicado en 2016

SLC52A2 mutations cause SCABD2 phenotype: A second report

artículo científico publicado en 2017

ST3GAL3 mutations impair the development of higher cognitive functions.

artículo científico publicado en 2011

Sensorineural deafness and male infertility: a contiguous gene deletion syndrome

artículo científico publicado en 2006

Sensorineural deafness and male infertility: a contiguous gene deletion syndrome.

artículo científico publicado en 2009

Serotonin Transporter Polymorphism (5-HTTLPR) and Citalopram Effectiveness in Iranian Patients with Major Depressive Disorder

artículo científico publicado en 2013

Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri patients with nonsyndromic autosomal recessive hearing loss.

artículo científico publicado en 2011

The Iranian Human Mutation Gene Bank: a data and sample resource for worldwide collaborative genetics research.

artículo científico publicado en 2003

The Iranian human mutation database

scientific article published on 01 July 2007

The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families

artículo científico publicado en 2015

The frequency of eight common point mutations in CYP21 gene in Iranian patients with congenital adrenal hyperplasia.

artículo científico publicado en 2008

The power of the Mediator complex-Expanding the genetic architecture and phenotypic spectrum of MED12 -related disorders

artículo científico publicado en 2018

Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.

artículo científico publicado en 2011

Two novel mutations in ILDR1 gene cause autosomal recessive nonsyndromic hearing loss in consanguineous Iranian families.

artículo científico publicado en 2015

Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

artículo científico publicado en 2014

Variants in CIB2 cause DFNB48 and not USH1J.

artículo científico publicado en 2017

Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability

artículo científico publicado en 2020

miRNA mutations are not a common cause of deafness.

artículo científico publicado en 2010

Lista de obras de

A Novel Deletion Mutation in ASPM Gene in an Iranian Family with Autosomal Recessive Primary Microcephaly

A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.

A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran

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 large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family.

A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.

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

A novel DFNA5 mutation does not cause hearing loss in an Iranian family.

A novel mutation adjacent to the Bth mouse mutation in the TMC1 gene makes this mouse an excellent model of human deafness at the DFNA36 locus.

A novel mutation in MCPH1 gene in an Iranian family with primary microcephaly

A novel mutation of the USH2C (GPR98) gene in an Iranian family with Usher syndrome type II.

A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family.

ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.

Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options

Alopecia-mental retardation syndrome: clinical and molecular characterization of four patients.

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

Association of polymorphisms at LDLR locus with coronary artery disease independently from lipid profile

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

BOD1 Is Required for Cognitive Function in Humans and Drosophila.

Biallelic missense variants in ZBTB11 can cause intellectual disability in humans

CDC14A Phosphatase is Essential for Hearing and Male Fertility in Mouse and Human.

CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival

CTG expansion & haplotype analysis in DM1 gene in healthy Iranian population.

Carrier Testing in Known Autosomal Recessive Intellectual Disability Genes in an Iranian Healthy Individual Using Exome Sequencing.

Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Iranian population.

Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran

Chromosome abnormality rate among Iranian patients with idiopathic mental retardation from consanguineous marriages.

Comprehensive Genotype-Phenotype Correlation in AP-4 Deficiency Syndrome; Adding Data from a Large Cohort of Iranian Patients

Correction: A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

Correlation between distribution of muscle weakness, electrophysiological findings and CTG expansion in myotonic dystrophy

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.

Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia

Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran

Exonic mutations and exon skipping: Lessons learned from DFNA5.

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

Finding mutation within non-coding region of GJB2 reveals its importance in genetic testing of hearing loss in Iranian population.

Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the Iranian population.

G130V de novo mutation in an Iranian pedigree with nonsyndromic hearing loss without palmoplantar keratoderma

GJB2 mutations: passage through Iran

GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability

Genetic Investigation of an Iranian Supercentenarian by Whole Exome Sequencing.

Genetic male infertility and mutation of CATSPER ion channels.

Genetics of intellectual disability in consanguineous families

Genetics of non-syndromic hearing loss in the Middle East.

Genotype and phenotype analysis of 43 Iranian facioscapulohumeral muscular dystrophy patients; Evidence for anticipation

Hb Dhonburi (Neapolis) [beta126(H4)Val-->Gly] identified in a family from northern Iran

High prevalence of the -alpha3.7 deletion among thalassemia patients in Iran

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

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

Homozygous variants in the gene SCAPER cause syndromic intellectual disability

Human male infertility caused by mutations in the CATSPER1 channel protein

Identification of Chromosome Abnormalities in Subtelomeric Regions Using Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 Iranian Patients With Idiopathic Mental Retardation

Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.

Identification of a founder mutation for Pendred syndrome in families from northwest Iran

Identification of disease-causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families

Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation

Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus.

Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa

Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population

Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutations.

Interstitial deletion of the short arm of chromosome 10 del(10)(p11.2p12.32) in a patient with congenital heart disease, minor dysmorphism, and mental retardation

Investigation of ATP6V1B1 and ATP6V0A4 genes causing hereditary hearing loss associated with distal renal tubular acidosis in Iranian families.

Investigation of genetic causes of intellectual disability in kerman province, South East of iran ⬇️

LGMD2E is the most common type of sarcoglycanopathies in the Iranian population

M-banding characterization of a 16p11.2p13.1 tandem duplication in a child with autism, neurodevelopmental delay and dysmorphism.

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

Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum

Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus

Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes

Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans

Mutations in NSUN2 cause autosomal-recessive intellectual disability.

Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population.

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 first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss.

New evidence for the role of calpain 10 in autosomal recessive intellectual disability: identification of two novel nonsense variants by exome sequencing in Iranian families.

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

Novel mutations in MYTH4-FERM domains of myosin 15 are associated with autosomal recessive nonsyndromic hearing loss