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Lista de obras de Hossein Najmabadi

A 21 Nucleotide Duplication on the α1- and α2-Globin Genes Involves a Variety of Hypochromic Microcytic Anemias, From Mild to Hb H Disease

artículo científico publicado en 2015

A catechol-O-methyltransferase that is essential for auditory function in mice and humans

artículo científico publicado en 2008

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

artículo científico publicado en 2010

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 forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function

scientific journal 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 mutation in the calreticulin gene promoter in a family case of schizoaffective disorder leads to its aberrant transcriptional activation

artículo científico publicado en 2008

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 homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation

artículo científico publicado en 2003

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

artículo científico publicado en 2011

A novel polymorphic purine complex at the 1.5 kb upstream region of the human caveolin-1 gene and risk of Alzheimer's disease; extra-short alleles and accumulated allele homozygosity

artículo científico publicado en 2009

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

artículo científico publicado en 2009

A point mutation at the calreticulin gene core promoter conserved sequence in a case of schizophrenia.

artículo científico publicado en 2006

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

artículo científico publicado en 2008

Alpha-thalassemia mutations in Gilan Province, North Iran.

artículo científico publicado en 2009

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

Analyzing 5'HS3 and 5'HS4 LCR core regions and NF-E2 in Iranian thalassemia intermedia patients with normal or carrier status for beta-globin mutations

artículo científico publicado en 2011

Association Study of the TREM2 Gene and Identification of a Novel Variant in Exon 2 in Iranian Patients with Late-Onset Alzheimer's Disease

artículo científico publicado en 2015

Association analysis of the dopamine transporter (DAT1)-67A/T polymorphism in bipolar disorder

artículo científico publicado en 2005

Association between the DRD2 A1 allele and opium addiction in the Iranian population

artículo científico publicado en 2005

Association of AKT1 haplotype with the risk of schizophrenia in Iranian population

artículo científico publicado en 2006

Attention-deficit/hyperactivity disorder (ADHD) association with the DAT1 core promoter -67 T allele

artículo científico publicado en 2006

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

Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature

scientific article published on 27 July 2010

C677T methylentetrahydrofulate reductase and angiotensin converting enzyme gene polymorphisms in patients with Alzheimer's disease in Iranian population.

artículo científico publicado en 2006

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

Characterization of Homozygous Hb Setif (HBA2: c.283G>T) in the Iranian Population

artículo científico publicado en 2015

Characterizing a cohort of α-thalassemia couples collected during screening for hemoglobinopathies: 14 years of an Iranian experience

scientific article published on 01 January 2014

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

artículo científico publicado en 2011

Common MEFV mutation analysis in 36 Iranian patients with familial Mediterranean fever: clinical and demographic significance.

artículo científico publicado en 2010

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

artículo científico publicado en 2020

Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations

Copy number variations of six and seven α-globin genes in a family with intermedia and major thalassemia phenotypes

artículo científico

Core promoter STRs: novel mechanism for inter-individual variation in gene expression in humans.

artículo científico publicado en 2011

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

artículo científico publicado en 2011

Diagnostic pitfalls of less well recognized HbH disease

artículo científico

Diagnostic values of GHSR DNA methylation pattern in breast cancer

artículo científico publicado en 2012

Did the GJB2 35delG mutation originate in Iran?

artículo científico publicado en 2011

Elucidating the spectrum of alpha-thalassemia mutations in Iran

artículo científico publicado en 2007

Epigenetically deregulated microRNA-375 is involved in a positive feedback loop with estrogen receptor alpha in breast cancer cells

artículo científico publicado en 2010

Erratum to “Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency” [Mol. Genet. Metabol. 90/4 (2007) 414–421]

scholarly article published in Molecular Genetics and Metabolism

Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

artículo científico publicado en 2007

Exceptional human core promoter nucleotide compositions.

artículo científico publicado en 2011

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

First Report of a Dominantly Inherited β-Thalassemia Caused by a Novel Elongated β-Globin Chain

artículo científico publicado en 2016

Fourteen-year experience of prenatal diagnosis of thalassemia in Iran

artículo científico publicado en 2006

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

artículo científico publicado en 2009

Frequency of positive XmnIGgamma polymorphism and coinheritance of common alpha thalassemia mutations do not show statistically significant difference between thalassemia major and intermedia cases with homozygous IVSII-1 mutation

artículo científico publicado en 2009

GJB2 mutations in Baluchi population

artículo científico publicado en 2008

GJB2 mutations: passage through Iran

artículo científico publicado en 2005

Gender dimorphism in the DAT1 -67 T-allele homozygosity and predisposition to bipolar disorder

artículo científico publicado en 2007

Genetic male infertility and mutation of CATSPER ion channels.

artículo científico publicado en 2010

Genetic screening of leber congenital amaurosis in a large consanguineous Iranian family

artículo científico publicado en 2007

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

artículo científico

Genomic characterization of some Iranian children with idiopathic mental retardation using array comparative genomic hybridization.

artículo científico publicado en 2013

Genotype-phenotype correlation in Iranian patients with Hb H disease

artículo científico publicado en 2011

Globin chain synthesis is a useful complementary tool in the differential diagnosis of thalassemias

artículo científico publicado en 2007

Hb Dartmouth (HBA2: c.200T>C): An α2-Globin Gene Associated with Hb H Disease in One Homozygous Patient

artículo científico publicado en 2015

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

artículo científico publicado en 2004

Hemoglobin Q-Iran detected in family members from Northern Iran: a case report

artículo científico publicado en 2012

Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect

artículo científico publicado en 2011

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

scientific article published on 01 February 2003

Homozygosity for the AATAAA > AATA- - Polyadenylation Site Mutation on the α2-Globin Gene Causing Transfusion-Dependent Hb H Disease in an Iranian Patient: A Case Report

artículo científico publicado en 2015

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 SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems

scientific journal article

Homozygous THAP1 mutations as cause of early-onset generalized dystonia

artículo científico publicado en 2011

Human male infertility caused by mutations in the CATSPER1 channel protein

artículo científico publicado en 2009

Hydroxyurea responsiveness in β-thalassemic patients is determined by the stress response adaptation of erythroid progenitors and their differentiation propensity

artículo científico publicado en 2012

Identification of Mutations Causing Aberrant Termination and Deficient Splice Donor Site on the HBA1 Gene

artículo científico publicado en 2015

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 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 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

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

artículo científico publicado en 2014

Interaction of an α-Globin Gene Triplication with β-Globin Gene Mutations in Iranian Patients with β-Thalassemia Intermedia.

artículo científico publicado en 2015

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

Investigating the CFH Gene Polymorphisms as a Risk Factor for Age-related Macular Degeneration in an Iranian Population

artículo científico publicado en 2015

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 primary microcephaly in Bushehr province of Iran: novel STIL and ASPM mutations.

artículo científico publicado en 2012

Iranome: A catalog of genomic variations in the Iranian population

artículo científico publicado en 2019

LRP6 mutation in a family with early coronary disease and metabolic risk factors

artículo científico publicado en 2007

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42

artículo científico publicado en 2011

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

Molecular characterization of alpha-thalassemia in the Dohuk region of Iraq

artículo científico publicado en 2009

Molecular mechanisms underlying thalassemia intermedia in Iran

scientific article published on 01 December 2008

Mutation analysis of the DBC2 gene in sporadic and familial breast cancer

artículo científico publicado en 2007

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

scientific journal article

Mutation screening of the Krüppel-like factor 1 gene using single-strand conformational polymorphism in a cohort of Iranian β-thalassemia patients

artículo científico publicado en 2015

Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse

scientific journal article

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 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

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

scientific journal article

Mutations on the α2-Globin Gene That May Trigger α(+)-Thalassemia

artículo científico publicado en 2015

NDST1 missense mutations in autosomal recessive intellectual disability.

artículo científico publicado en 2014

NPHP4 variants are associated with pleiotropic heart malformations

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

No association between the DAT1 10-repeat allele and ADHD in the Iranian population

artículo científico publicado en 2008

Novel Mutation in <i>LARP7</i> in Two Iranian Consanguineous Families with Syndromic Intellectual Disability and Facial Dysmorphism

artículo científico publicado en 2020

Novel extreme homozygote haplotypes at the human caveolin 1 gene upstream purine complex in sporadic Alzheimer's disease.

artículo científico publicado en 2010

Novel mutations in the calreticulin gene core promoter and coding sequence in schizoaffective disorder.

artículo científico publicado en 2010

Novel mutations responsible for α-thalassemia in Iranian families

artículo científico publicado en 2013

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

POLRMT mutations impair mitochondrial transcription causing neurological disease

artículo científico publicado en 2021

Pattern of immunoglobulin and T-cell receptor-δ/γ gene rearrangements in Iranian children with B-precursor acute lymphoblastic leukemia

artículo científico publicado en 2014

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

artículo científico publicado en 2022

Point mutations which should not be overlooked in Hb H disease

artículo científico publicado en 2015

Prenatal diagnosis for beta-thalassemia major in the Iranian Province of Hormozgan

scientific article published on 01 January 2008

Prevalence of GJB2-associated deafness and outcomes of cochlear implantation in Iran

artículo científico publicado en 2011

Redefining the MED13L syndrome

artículo científico publicado en 2015

Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes

artículo científico publicado en 2011

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

Retinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations

artículo científico publicado en 2014

Reversion of the human calreticulin gene promoter to the ancestral type as a result of a novel psychosis-associated mutation

article

SARS-CoV-2 outbreak in Iran: The dynamics of the epidemic and evidence on two independent introductions

artículo científico publicado en 2021

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

Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population.

artículo científico publicado en 2012

Screening of Iranian thalassemic families for the most common deletions of the beta-globin gene cluster

article

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

Skew in the human caveolin 1 gene upstream purine complex homozygote haplotype compartment in multiple sclerosis

artículo científico publicado en 2009

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

artículo científico publicado en 2011

Structure and organization of the RBMY genes on the human Y chromosome: transposition and amplification of an ancestral autosomal hnRNPG gene

artículo científico publicado en 1998

Subcellular relocalization and nuclear redistribution of the RNA methyltransferases TRMT1 and TRMT1L upon neuronal activation

artículo científico publicado en 2021

Substantial prevalence of microdeletions of the Y-chromosome in infertile men with idiopathic azoospermia and oligozoospermia detected using a sequence-tagged site-based mapping strategy

artículo científico publicado en 1996

Support for down-tuning of the calreticulin gene in the process of human evolution.

artículo científico publicado en 2011

Thalassemia in Iran: epidemiology, prevention, and management

artículo científico publicado en 2007

The Coxsackievirus and Adenovirus Receptor: a new adhesion protein in cochlear development

scientific journal article

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

artículo científico publicado en 2003

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 XmnI andBCL11ASingle Nucleotide Polymorphisms May Help Predict Hydroxyurea Response in Iranian β-Thalassemia Patients

artículo científico publicado en 2012

The beta-thalassemia mutation spectrum in the Iranian population

scientific article published on 01 August 2001

The frequency of GJB2 mutations and the Delta (GJB6-D13S1830) deletion as a cause of autosomal recessive non-syndromic deafness in the Kurdish population

artículo científico publicado en 2004

The human caveolin 1 gene upstream purine complex and neurodegeneration--a common signature

artículo científico publicado en 2011

The influence of the BCL11A polymorphism on the phenotype of patients with beta thalassemia could be affected by the beta globin locus control region and/or the Xmn1-HBG2 genotypic background

scientific article published on 28 March 2013

The modifying effect of Xmn1-HBG2 on thalassemic phenotype is associated with its linked elements in the beta globin locus control region, including the palindromic site at 5'HS4.

artículo científico publicado en 2011

The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study

artículo científico publicado en 2012

The spectrum of α-thalassemia mutations in the Kurdish population of Northeastern Iraq.

artículo científico publicado en 2012

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

artículo científico publicado en 2011

Two novel SLC26A4 mutations in Iranian families with autosomal recessive hearing loss

artículo científico publicado en 2012

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

artículo científico publicado en 2015

Utility of the multivariate approach in predicting β-thalassemia intermedia or β-thalassemia major types In Iranian patients

artículo científico publicado en 2013

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

artículo científico publicado en 2014

Validation of a reverse-hybridization StripAssay for the simultaneous analysis of common alpha-thalassemia point mutations and deletions

artículo científico publicado en 2007

Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation

artículo científico publicado en 2010

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

YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations

artículo científico publicado en 2020

alpha-Thalassemia mutation analyses in Mazandaran province, North Iran

artículo científico publicado en 2009

alpha-thalassemia mutations in Khuzestan Province, Southwest Iran

artículo científico publicado en 2008

cAMP response element-binding protein 1 is required for hydroxyurea-mediated induction of γ-globin expression in K562 cells

artículo científico publicado en 2012

miRNA mutations are not a common cause of deafness.

artículo científico publicado en 2010

β-Thalassemia mutations in the Kurdish population of northeastern Iraq.

artículo científico publicado en 2010

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