Publications by authors named "Omid Aryani"

34Publications

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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February 2018

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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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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December 2016

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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June 2017

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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December 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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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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May 2015

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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May 2014

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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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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October 2014