Majid Fardaei

Majid Fardaei

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Majid Fardaei

Majid Fardaei

Publications by authors named "Majid Fardaei"

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35Publications

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J Ophthalmic Vis Res 2018 Apr-Jun;13(2):213

Department of Medical Genetics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.

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May 2018

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

Taiwan J Obstet Gynecol 2018 Feb;57(1):1-6

Infertility Research Center, Shiraz University of Medical Sciences, Shiraz, Iran; Department of Obstetrics and Gynecology, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran. Electronic address:

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February 2018

Identification of a novel deletion within with Sjögren-Larsson Syndrome.

Clin Case Rep 2018 Jan 22;6(1):32-36. Epub 2017 Nov 22.

Genomics Research CenterShahid Beheshti University of Medical SciencesTehranIran.

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January 2018

TSC1 Mutations in Keratoconus Patients With or Without Tuberous Sclerosis.

Invest Ophthalmol Vis Sci 2017 12;58(14):6462-6469

Department of Surgery and Board of the Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, California, United States.

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December 2017

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

Blood Res 2017 Dec 26;52(4):332-334. Epub 2017 Dec 26.

Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz, Iran.

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December 2017

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

Hum Genome Var 2017 5;4:17038. Epub 2017 Oct 5.

Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.

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October 2017

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

BMC Med Genet 2017 08 18;18(1):87. Epub 2017 Aug 18.

Center for Therapeutic Innovation and Department of Psychiatry and Behavioral Sciences, University of Miami Miller School of Medicine, Miami, USA.

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August 2017

A Novel Mutation in Gene Causing Cockayne Syndrome.

Front Pediatr 2017 9;5:169. Epub 2017 Aug 9.

Center for Therapeutic Innovation, Department of Psychiatry and Behavioral Sciences, Miller School of Medicine, University of Miami, Miami, FL, United States.

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August 2017

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

J Ophthalmic Vis Res 2017 Apr-Jun;12(2):135-140

Department of Medical Genetics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.

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May 2017

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

Iran J Parasitol 2016 Apr-Jun;11(2):168-176

Dept. of Genetics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.

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January 2017

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

Iran J Child Neurol 2017 ;11(3):57-60

Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

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January 2017

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

Iran J Med Sci 2016 Sep;41(5):456-8

Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.

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September 2016

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

Hum Genome Var 2016 1;3:16027. Epub 2016 Sep 1.

Department of Medical Genetics, Shiraz University of Medical Sciences , Shiraz, Iran.

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September 2016

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

Int J Mol Cell Med 2015 ;4(4):245-7

Genomic Research Center, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

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March 2016

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

Gene 2016 Jan 21;576(1 Pt 2):379-80. Epub 2015 Aug 21.

Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Electronic address:

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January 2016

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

Gene 2015 Oct 3;570(2):304-5. Epub 2015 Jul 3.

Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Electronic address:

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October 2015

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

Gene 2015 Oct 18;571(1):149-50. Epub 2015 Jul 18.

Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Electronic address:

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October 2015

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

Arch Iran Med 2015 Oct;18(10):683-7

3)Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran. 5)Department of Molecular Medicine, School of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran.

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October 2015

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

Arch Iran Med 2014 Nov;17(11):755-8

Department of Medical Genetics, Medical School, Shiraz University of Medical Sciences, Shiraz, Iran Departments of Molecular Medicine, School of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran.

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November 2014

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

Hepat Mon 2013 16;13(5):e8375. Epub 2013 May 16.

Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, IR Iran ; Department of Molecular Medicine, Shiraz University of Medical Sciences, Shiraz, IR Iran.

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September 2013

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

Iran J Basic Med Sci 2013 Aug;16(8):946-9

Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.

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August 2013

MSX1 mutation in witkop syndrome; a case report.

Iran J Med Sci 2013 Jun;38(2 Suppl):191-4

Department of Pediatric Dentistry, School of Dentistry, Shiraz University of Medical Sciences, Shiraz, Iran;

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June 2013

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

Gene 2013 Feb 13;514(1):48-53. Epub 2012 Nov 13.

Department of Medical Genetics and Molecular Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.

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February 2013

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

Am J Pathol 2009 Jan 18;174(1):216-27. Epub 2008 Dec 18.

Wolfson Centre for Inherited Neuromuscular Disease, RJAH Orthopaedic Hospital, Oswestry, Shropshire, United Kingdom.

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January 2009

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

Hum Mol Genet 2002 Apr;11(7):805-14

Institute of Genetics, University of Nottingham, Queen's Medical Centre, Nottingham NG7 2UH, UK.

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April 2002