Omid Aryani

Omid Aryani

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Omid Aryani

Omid Aryani

Publications by authors named "Omid Aryani"

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33Publications

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Genetic Analysis of Gene in Iranian Patients with Rett Syndrome.

Iran J Child Neurol 2019 ;13(3):25-34

Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6586453PMC
January 2019

mutation associated with pseudorheumatoid dysplasia.

Cold Spring Harb Mol Case Stud 2018 02 1;4(1). Epub 2018 Feb 1.

Department of Genetics, Stanford University, Stanford, California 94304, USA.

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http://dx.doi.org/10.1101/mcs.a001990DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5793776PMC
February 2018

Late-onset pompe disease in Iran: A clinical and genetic report.

Muscle Nerve 2017 06 3;55(6):835-840. Epub 2017 Feb 3.

Iranian Center of Neurological Research, Shariati Hospital, Tehran University of Medical Sciences, North Karegar Street, Tehran, 14114, Iran.

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http://dx.doi.org/10.1002/mus.25413DOI Listing
June 2017

Oculopharyngeal muscular dystrophy misdiagnosed as myasthenia gravis: Case report and review of literature.

Iran J Neurol 2017 Apr;16(2):98-99

Department of Neuro-Ophthalmology, Eye and Strabismus Research Center, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5526785PMC
April 2017

Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas.

Ther Clin Risk Manag 2017 20;13:15-19. Epub 2016 Dec 20.

Medical Genetics Department, National Institute for Genetic Engineering and Biotechnology.

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http://dx.doi.org/10.2147/TCRM.S111717DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5189706PMC
December 2016

A Novel Mutation in Aspartoacylase Gene; Canavan Disease.

Iran J Child Neurol 2015 ;9(4):54-7

Pediatric Neurology Division, Growth and Development Research Center, Children's Medical Center, Pediatric Center of Excellence, Tehran University of Medical Science, Tehran, Iran.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4670978PMC
December 2015

Measuring Serum Level of Ionized Magnesium in Patients with Migraine.

Iran J Child Neurol 2015 ;9(3):13-6

Medical student, Azad University, Faculty of Medicine, Yazd, Iran.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4577693PMC
September 2015

Oral Therapy in a Diabetic Patient With History of Infantile Hyperinsulinism.

Iran J Pediatr 2015 Aug 24;25(4):e268. Epub 2015 Aug 24.

Medical Genetics Department, Special Medical Center, Tehran, IR Iran.

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http://dx.doi.org/10.5812/ijp.268DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4575801PMC
August 2015

Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).

PLoS One 2014 12;9(9):e106656. Epub 2014 Sep 12.

Department of Medical Genetics, Special Medical Center, Tehran, Iran; Department of Medical Genetics, National Institute for Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0106656PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4162572PMC
May 2015

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

J Child Neurol 2015 Apr 20;30(5):558-62. Epub 2014 Feb 20.

Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran

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http://dx.doi.org/10.1177/0883073814521297DOI Listing
April 2015

Three novel mutations in Iranian patients with Tay-Sachs disease.

Iran Biomed J 2014 ;18(2):114-9

National Institute for Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3933921PMC
October 2014

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

Pediatr Dermatol 2013 Nov-Dec;30(6):e265-7. Epub 2013 Feb 14.

Molecular Genetic Laboratory, Alzahra Hospital, Isfahan University of Medical Sciences, Isfahan, Iran; Pediatric Inherited Disease Research Center, Isfahan, Iran.

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http://dx.doi.org/10.1111/pde.12065DOI Listing
August 2014

Molecular and clinical investigation of Iranian patients with Friedreich ataxia.

Iran Biomed J 2014 ;18(1):28-33

Dept. of Pharmacy, Faculty of Medicine, University of Malaya, Malaysia.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3892137PMC
August 2014

Secondary headaches attributed to arterial hypertension.

Iran J Neurol 2013 ;12(3):106-10

Assistant Professor, Department of Neurology, Imam Hossein Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3829292PMC
June 2014

New mutation of pelizaeus--merzbacher-like disease; a report from iran.

Iran J Radiol 2014 May 15;11(2):e6913. Epub 2014 May 15.

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

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http://dx.doi.org/10.5812/iranjradiol.6913DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4090646PMC
May 2014

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

Gene 2014 Feb 22;535(2):250-4. Epub 2013 Nov 22.

Pediatric Inherited Disease Research Center (PIDRC), Isfahan University of Medical Sciences, Isfahan, Iran; Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2013.11.022DOI Listing
February 2014

Association of human mtDNA mutations with autism in Iranian patients.

J Res Med Sci 2013 Oct;18(10):926

Department of Medical Genetic, Special Medical Center, Tehran, Iran ; Department of Medical Genetics, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897084PMC
October 2013

Alexander Disease: Report of Two Unrelated Infantile Form Cases, Identified by GFAP Mutation Analysis and Review of Literature; The First Report from Iran.

Iran J Pediatr 2013 Aug;23(4):481-4

Department of Medical Genetics, Special Medical Center, Tehran, Iran ; Genetic Department, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3883381PMC
August 2013

A novel PANK2 gene mutation in a Persian boy: the first report from Iran.

Clin Neurol Neurosurg 2013 Jul 30;115(7):1170-2. Epub 2012 Oct 30.

Special Medical Center, Department of Medical Genetics, Tehran, Iran.

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http://dx.doi.org/10.1016/j.clineuro.2012.10.004DOI Listing
July 2013

Investigation of the Mitochondrial ATPase 6/8 and tRNA(Lys) Genes Mutations in Autism.

Cell J 2012 31;14(2):98-101. Epub 2012 Aug 31.

1. Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3584428PMC
March 2013

Recurrence of primary hyperoxaluria after kidney transplantation.

Iran J Kidney Dis 2011 Nov;5(6):429-33

Division of Nephrology, Department of Internal Medicine, Hasheminejad Kidney Center, Iran University of Medical Sciences, Tehran, Iran.

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November 2011