Lista de obras -

A case report of 22q11 deletion syndrome confirmed by array-CGH method.

artículo científico publicado en 2012

A novel mutation in the aprataxin (APTX) gene in an Iranian individual suffering early-onset ataxia with oculomotor apraxia type 1(AOA1) disease

artículo científico publicado en 2012

An insight into genetics of non-syndromic cleft palate.

scientific article published on 06 March 2013

Association between mismatch repair gene MSH3 codons 1036 and 222 polymorphisms and sporadic prostate cancer in the Iranian population.

artículo científico publicado en 2012

Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East

artículo científico publicado en 2020

Consanguineous marriages in the genetic counseling centers of Isfahan and the ethical issues of clinical consultations

artículo científico publicado en 2017

Cutis laxa type II with mutation in the pyrroline-5-carboxylate reductase 1 gene.

artículo científico publicado en 2013

Detection of intragenic SMN1 mutations in spinal muscular atrophy patients with a single copy of SMN1.

artículo científico publicado en 2014

Evaluation of multiplex ligation-dependent probe amplification analysis versus multiplex polymerase chain reaction assays in the detection of dystrophin gene rearrangements in an Iranian population subset

artículo científico publicado en 2014

Family-based association analysis between nonsyndromic cleft lip with or without cleft palate and IRF6 polymorphism in an Iranian population

artículo científico publicado en 2014

Genotype-phenotype correlation of survival motor neuron and neuronal apoptosis inhibitory protein genes in spinal muscular atrophy patients from Iran

artículo científico

Identification of Proximal and Distal 22q11.2 Microduplications among Patients with Cleft Lip and/or Palate: A Novel Inherited Atypical 0.6 Mb Duplication

artículo científico publicado en 2015

Investigation of TBX1 gene deletion in Iranian children with 22q11.2 deletion syndrome: correlation with conotruncal heart defects.

artículo científico publicado en 2013

Mutation analysis of CACNA1A gene in Iranian migrainous and review literatures

artículo científico publicado en 2013

Non-syndromic cleft lip with or without cleft palate in Asian populations: Association analysis on three gene polymorphisms of the folate pathway

artículo científico publicado en 2015

Non-syndromic cleft palate: Association analysis on three gene polymorphisms of the folate pathway in Asian and Italian populations

scientific article published on 01 January 2019

Possible effect of SNAIL family transcriptional repressor 1 polymorphisms in non-syndromic cleft lip with or without cleft palate.

artículo científico publicado en 2018

Prevalence of 22q11.2 microdeletion syndrome in Iranian patients with cleft palate

artículo científico publicado en 2016

ROCK1 is associated with non-syndromic cleft palate

artículo científico publicado en 2019

Reciprocal 22q11.2 Deletion and Duplication in Siblings with Karyotypically Normal Parents

artículo científico publicado en 2016

Use of in silico tools for classification of novel missense mutations identified in dystrophin gene in developing countries

artículo científico publicado en 2013

Lista de obras de

A case report of 22q11 deletion syndrome confirmed by array-CGH method.

A novel mutation in the aprataxin (APTX) gene in an Iranian individual suffering early-onset ataxia with oculomotor apraxia type 1(AOA1) disease

An insight into genetics of non-syndromic cleft palate.

Association between mismatch repair gene MSH3 codons 1036 and 222 polymorphisms and sporadic prostate cancer in the Iranian population.

Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East

Consanguineous marriages in the genetic counseling centers of Isfahan and the ethical issues of clinical consultations

Cutis laxa type II with mutation in the pyrroline-5-carboxylate reductase 1 gene.

Detection of intragenic SMN1 mutations in spinal muscular atrophy patients with a single copy of SMN1.

Evaluation of multiplex ligation-dependent probe amplification analysis versus multiplex polymerase chain reaction assays in the detection of dystrophin gene rearrangements in an Iranian population subset

Family-based association analysis between nonsyndromic cleft lip with or without cleft palate and IRF6 polymorphism in an Iranian population

Genotype-phenotype correlation of survival motor neuron and neuronal apoptosis inhibitory protein genes in spinal muscular atrophy patients from Iran

Identification of Proximal and Distal 22q11.2 Microduplications among Patients with Cleft Lip and/or Palate: A Novel Inherited Atypical 0.6 Mb Duplication

Investigation of TBX1 gene deletion in Iranian children with 22q11.2 deletion syndrome: correlation with conotruncal heart defects.

Mutation analysis of CACNA1A gene in Iranian migrainous and review literatures

Non-syndromic cleft lip with or without cleft palate in Asian populations: Association analysis on three gene polymorphisms of the folate pathway

Non-syndromic cleft palate: Association analysis on three gene polymorphisms of the folate pathway in Asian and Italian populations

Possible effect of SNAIL family transcriptional repressor 1 polymorphisms in non-syndromic cleft lip with or without cleft palate.

Prevalence of 22q11.2 microdeletion syndrome in Iranian patients with cleft palate

ROCK1 is associated with non-syndromic cleft palate

Reciprocal 22q11.2 Deletion and Duplication in Siblings with Karyotypically Normal Parents

Use of in silico tools for classification of novel missense mutations identified in dystrophin gene in developing countries