Publications by authors named "Mohammad Keramatipour"

46Publications

Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report.

BMC Pediatr 2021 Feb 8;21(1):70. Epub 2021 Feb 8.

Department of Genetics, Faculty of Advanced Sciences and Technology, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran.

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February 2021

SPOAN syndrome: a novel mutation and new ocular findings; a case report.

BMC Neurol 2021 Jan 15;21(1):24. Epub 2021 Jan 15.

Farabi eye hospital, Eye research center, Tehran University of Medical Science, Farabi Eye Hospital, Qazvin square, South Kargar Street, Tehran, Iran.

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January 2021

Succinate Dehydrogenase Deficiency: A Treatable Neurometabolic Disorder.

Iran J Child Neurol 2020 ;14(4):111-116

Pediatric Neurology Research Center, Research Institute for Children's Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

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January 2020

Whole Exome Sequencing Reveals a XPNPEP3 Novel Mutation Causing Nephronophthisis in a Pediatric Patient

Iran Biomed J 2020 11 31;24(6):405-8. Epub 2020 May 31.

Department of Medical Genetics and Molecular Biology, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.

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November 2020

Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome.

Mol Genet Genomic Med 2020 08 19;8(8):e1274. Epub 2020 May 19.

Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Teheran, Iran.

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August 2020

Once in a Blue Moon, a Very Rare Coexistence of Glutaric Acidemia Type I and Mucopolysaccharidosis Type IIIB in a Patient

Iran Biomed J 2020 05 27;24(3):201-5. Epub 2019 Nov 27.

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

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May 2020

CRB1-Related Leber Congenital Amaurosis: Reporting Novel Pathogenic Variants and a Brief Review on Mutations Spectrum

Iran Biomed J 2019 09 19;23(5):362-8. Epub 2019 May 19.

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

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September 2019

3-Hydroxyisobutyryl-CoA hydrolase deficiency in an Iranian child with novel HIBCH compound heterozygous mutations.

Clin Case Rep 2019 Feb 15;7(2):375-380. Epub 2019 Jan 15.

Department of Medical Genetics School of Medicine Tehran University of Medical Sciences Tehran Iran.

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February 2019

Multi affected pedigree with congenital microcephaly: WES revealed PNKP gene mutation.

Brain Dev 2019 Feb 5;41(2):182-186. Epub 2018 Sep 5.

Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran; Pishgam Biotech Company, Tehran, Iran. Electronic address:

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February 2019

The association between ST18 gene polymorphism and severe pemphigus disease among Iranian population.

Exp Dermatol 2018 12 22;27(12):1395-1398. Epub 2018 Oct 22.

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

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December 2018

First report of Klein-Waardenburg Syndrome in Iran and a novel pathogenic splice site variant in PAX3 gene.

Int J Pediatr Otorhinolaryngol 2018 Oct 10;113:229-233. Epub 2018 Aug 10.

Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. Electronic address:

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October 2018

Effect of Whole Exome Sequencing in Diagnosis of Inborn Errors of Metabolism and Neurogenetic Disorders.

Iran J Child Neurol 2018 ;12(1):7-15

Department of Medical Genetics Faculty of Medicine, Tehran University of Medical Sciences,Tehran, Iran.

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January 2018

Targeted next generation sequencing identified a novel mutation in MYO7A causing Usher syndrome type 1 in an Iranian consanguineous pedigree.

Int J Pediatr Otorhinolaryngol 2018 Jan 18;104:10-13. Epub 2017 Oct 18.

Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. Electronic address:

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January 2018

A Novel Mutation in Gene Causes Malignant Infantile Osteopetrosis.

Avicenna J Med Biotechnol 2017 Oct-Dec;9(4):205-208

Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran.

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November 2017

A Novel Variant in the Gene Causing Phenylketonuria in an Iranian Pedigree.

Avicenna J Med Biotechnol 2017 Jul-Sep;9(3):146-149

Department of Medical Genetics, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran.

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July 2017