List of works - Majid Fardaei

A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia

scientific article published on September 2016

A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome

scientific article published on 9 August 2017

A case report: Autosomal recessive microcephaly caused by a novel mutation in MCPH1 gene.

scientific article

A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease.

scientific article published on 13 November 2012

A new missense mutation in the BCKDHB gene causes the classic form of maple syrup urine disease (MSUD)

scientific article published on 01 May 2015

A novel 5 nucleotide deletion in XPA gene is associated with severe neurological abnormalities.

scientific article published on 21 August 2015

Auricular or body acupuncture: which one is more effective in reducing abdominal fat mass in Iranian men with obesity: a randomized clinical trial

scientific article

Author's Reply

scientific article published in April 2018

Autosomal Recessive Nonsyndromic Hearing Loss: A Case Report with a Mutation in TRIOBP Gene

scientific article published on January 2015

Clinical and genetic-epignetic aspects of recurrent hydatidiform mole: A review of literature

scientific article published in February 2018

Construction of bacterial ghosts for transfer and expression of a chimeric hepatitis C virus gene in macrophages.

scientific article published on 11 November 2015

DNA Sequence Fragment Containing C to A Mutation as a Convenient Mutation Standard for DHPLC Analysis

scientific article published on August 2013

Does the c.-273T>C variant in the upstream region of the HBB gene cause a thalassemia phenotype?

scientific article published on 26 December 2017

Effects of auricular acupressure combined with low-calorie diet on the leptin hormone in obese and overweight Iranian individuals

scientific article published on 22 June 2012

Expression Analysis of Multiple Genes May Involve in Antimony Resistance among Leishmania major Clinical Isolates from Fars Province, Central Iran.

scientific article published on April 2016

Expression of a2, a5 and a6 subunits of integrin in de-differentiated NIH3T3 cells by cell-free extract of embryonic stem cells

scientific article published on July 2012

Family screening for a novel ATP7B gene mutation, c.2335T>G, in the South of Iran

scientific article published on 20 February 2014

Genetic variations of 21 STR markers on chromosomes 13, 18, 21, X, and Y in the south Iranian population.

scientific article published on 19 December 2016

Identification of a novel deletion within ALDH3A2 gene in an Iranian Family with Sjögren-Larsson Syndrome.

scientific article

Impact of KIF6 Polymorphism rs20455 on Coronary Heart Disease Risk and Effectiveness of Statin Therapy in 100 Patients from Southern Iran.

scientific article

In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts

scientific article

Leigh syndrome associated with a novel mutation in the COX15 gene.

scientific article

Limb Girdle Muscular Dystrophy Type 2E Due to a Novel Large Deletion in SGCB Gene

scientific article published on January 2017

Linkage Analysis based on Four Microsatellite Markers to Screen for Unknown Mutation in Families with Wilson Disease.

scientific article

MSX1 mutation in witkop syndrome; a case report

scientific article published on June 2013

Multiplex ARMS PCR to Detect 8 Common Mutations of ATP7B Gene in Patients With Wilson Disease

scientific article published on 16 May 2013

Muscleblind-like proteins: similarities and differences in normal and myotonic dystrophy muscle

scientific article

Mutation analysis of the CTNS gene in Iranian patients with infantile nephropathic cystinosis: identification of two novel mutations

scientific article published on 5 October 2017

Myotonic dystrophy--a multigene disorder.

scientific article

Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports.

scientific article published on 18 August 2017

Second Allele Finder Software: a Simple Approach Toward HLA Typing

scientific article

Segregation of a novel MLH1 mutation in an Iranian Lynch syndrome family

scientific article published on 03 July 2015

TSC1 Mutations in Keratoconus Patients With or Without Tuberous Sclerosis.

scientific article published in December 2017

The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients.

scientific article published on 20 February 2018

The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions

scientific article published on 9 March 2016

The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions.

scientific article published on October 2016

The same haplotype for two unrelated Wilson disease patients with new ATP7B mutation

scientific article published on 01 November 2014

Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells.

scientific article

Two novel mutations in the KHDC3L gene in Asian patients with recurrent hydatidiform mole.

scientific article published on September 2016

VSX1 and SOD1 Mutation Screening in Patients with Keratoconus in the South of Iran.

scientific article

List of works by Majid Fardaei

A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia

A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome

A case report: Autosomal recessive microcephaly caused by a novel mutation in MCPH1 gene.

A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease.

A new missense mutation in the BCKDHB gene causes the classic form of maple syrup urine disease (MSUD)

A novel 5 nucleotide deletion in XPA gene is associated with severe neurological abnormalities.

Auricular or body acupuncture: which one is more effective in reducing abdominal fat mass in Iranian men with obesity: a randomized clinical trial

Author's Reply

Autosomal Recessive Nonsyndromic Hearing Loss: A Case Report with a Mutation in TRIOBP Gene

Clinical and genetic-epignetic aspects of recurrent hydatidiform mole: A review of literature

Construction of bacterial ghosts for transfer and expression of a chimeric hepatitis C virus gene in macrophages.

DNA Sequence Fragment Containing C to A Mutation as a Convenient Mutation Standard for DHPLC Analysis

Does the c.-273T>C variant in the upstream region of the HBB gene cause a thalassemia phenotype?

Effects of auricular acupressure combined with low-calorie diet on the leptin hormone in obese and overweight Iranian individuals

Expression Analysis of Multiple Genes May Involve in Antimony Resistance among Leishmania major Clinical Isolates from Fars Province, Central Iran.

Expression of a2, a5 and a6 subunits of integrin in de-differentiated NIH3T3 cells by cell-free extract of embryonic stem cells

Family screening for a novel ATP7B gene mutation, c.2335T>G, in the South of Iran

Genetic variations of 21 STR markers on chromosomes 13, 18, 21, X, and Y in the south Iranian population.

Identification of a novel deletion within ALDH3A2 gene in an Iranian Family with Sjögren-Larsson Syndrome.

Impact of KIF6 Polymorphism rs20455 on Coronary Heart Disease Risk and Effectiveness of Statin Therapy in 100 Patients from Southern Iran.

In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts

Leigh syndrome associated with a novel mutation in the COX15 gene.

Limb Girdle Muscular Dystrophy Type 2E Due to a Novel Large Deletion in SGCB Gene

Linkage Analysis based on Four Microsatellite Markers to Screen for Unknown Mutation in Families with Wilson Disease.

MSX1 mutation in witkop syndrome; a case report

Multiplex ARMS PCR to Detect 8 Common Mutations of ATP7B Gene in Patients With Wilson Disease

Muscleblind-like proteins: similarities and differences in normal and myotonic dystrophy muscle

Mutation analysis of the CTNS gene in Iranian patients with infantile nephropathic cystinosis: identification of two novel mutations

Myotonic dystrophy--a multigene disorder.

Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports.

Second Allele Finder Software: a Simple Approach Toward HLA Typing

Segregation of a novel MLH1 mutation in an Iranian Lynch syndrome family

TSC1 Mutations in Keratoconus Patients With or Without Tuberous Sclerosis.

The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients.

The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions

The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions.

The same haplotype for two unrelated Wilson disease patients with new ATP7B mutation

Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells.

Two novel mutations in the KHDC3L gene in Asian patients with recurrent hydatidiform mole.

VSX1 and SOD1 Mutation Screening in Patients with Keratoconus in the South of Iran.