Maryam Sedghi

Maryam Sedghi

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Maryam Sedghi

Maryam Sedghi

Publications by authors named "Maryam Sedghi"

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31Publications

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Motor neuron diseases caused by a novel VRK1 variant - A genotype/phenotype study.

Ann Clin Transl Neurol 2019 Sep 27. Epub 2019 Sep 27.

Centre for Medical Research, The University of Western Australia and the Harry Perkins Institute for Medical Research, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1002/acn3.50912DOI Listing
September 2019

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

Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a variant.

Neurol Genet 2018 Dec 3;4(6):e295. Epub 2018 Dec 3.

Medical Genetics Laboratory (M. Sedghi), Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran; Department of Neurology (M. Salari), Shahid Beheshti University of Medical Science, Tehran, Iran; Department of Pathology (A.-R.M.), University of Gothenburg, Sahlgrenska University Hospital, Sweden; Kariminejad-Najmabadi Pathology & Genetics Center (A.K.), Tehran, Iran; Department of Diagnostic Genomics (M.D.), Pathwest, QEII Medical Centre; Centre for Medical Research (H.G., N.L., H.T.), The University of Western Australia and the Harry Perkins Institute for Medical Research, Nedlands, Australia; School of Bioscience (B.O.), University of Skovde; and Division Biomedicine (H.T.), School of Health and Education, University of Skovde, Sweden.

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http://dx.doi.org/10.1212/NXG.0000000000000295DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6283458PMC
December 2018

Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction.

Neurol Genet 2018 Oct 5;4(5):e276. Epub 2018 Oct 5.

Centre for Medical Research (R.G.L., A.-M.J.S., M. Stentenbach, H.G., O.R., N.G.L., H.T., A.F.), University of Western Australia and the Harry Perkins Institute for Medical Research, Nedlands, Western Australia, Australia; Department of Genetics (M. Sedghi), University of Isfahan, Isfahan; Functional Neurosurgery Research Center (M. Salari), Shohada Tajrish Neurosurgical Center of Excellence, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Kariminejad-Najmabadi Pathology and Genetics Center (A.K.), Tehran, Iran; School of Molecular Sciences (O.R., A.F.), The University of Western Australia, Crawley; Department of Diagnostic Genomics (N.G.L.), PathWest, QEII Medical Centre, Nedlands, Western Australia, Australia; and Division Biomedicine and Public Health (H.T.), School of Health and Education, University of Skovde, Sweden.

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http://dx.doi.org/10.1212/NXG.0000000000000276DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6186023PMC
October 2018

A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features.

J Hum Genet 2018 Apr 6;63(4):487-491. Epub 2018 Feb 6.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan.

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http://dx.doi.org/10.1038/s10038-017-0404-9DOI Listing
April 2018

Reciprocal 22q11.2 Deletion and Duplication in Siblings with Karyotypically Normal Parents.

Cytogenet Genome Res 2016 8;148(1):1-5. Epub 2016 Apr 8.

Laboratory for Cytogenetics and Genome Research, Center of Human Genetics, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1159/000445089DOI Listing
January 2017

Therapeutic Effects of Adrenocorticotropic Hormone ACTH in Children with Severely Intractable Seizure.

Iran J Child Neurol 2017 ;11(3):19-26

Departement of Pediatric Neurology and Child Growth and Development Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5582355PMC
January 2017

Effects of early versus delayed excision and grafting on the return of the burned hand function.

J Res Med Sci 2016 7;21:109. Epub 2016 Nov 7.

Department of Occupational Therapy, Burn Research Center, Iran University of Medical Sciences, Tehran, Iran.

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http://dx.doi.org/10.4103/1735-1995.193501DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5322686PMC
November 2016

Clinical features of the myasthenic syndrome arising from mutations in GMPPB.

J Neurol Neurosurg Psychiatry 2016 08 4;87(8):802-9. Epub 2016 May 4.

Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1136/jnnp-2016-313163DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6047737PMC
August 2016

Investigation of TBX1 gene deletion in Iranian children with 22q11.2 deletion syndrome: correlation with conotruncal heart defects.

Heart Asia 2013 12;5(1):200-2. Epub 2013 Sep 12.

Department of Plastic and Reconstructive Surgery , Alzahra University Hospital, Isfahan University of Medical Sciences , Isfahan , Iran.

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http://dx.doi.org/10.1136/heartasia-2013-010327DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4832817PMC
June 2016

D5S351 and D5S1414 located at the spinal muscular atrophy critical region represent novel informative markers in the Iranian population.

Meta Gene 2016 Feb 10;7:16-9. Epub 2015 Nov 10.

Division of Genetics, Department of Biology, Faculty of Science, University of Isfahan, Isfahan, Islamic Republic of Iran.

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http://dx.doi.org/10.1016/j.mgene.2015.10.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4660382PMC
February 2016

Structural and functional impact of missense mutations in TPMT: An integrated computational approach.

Comput Biol Chem 2015 Dec 9;59 Pt A:48-55. Epub 2015 Sep 9.

Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran; Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-communicable disease, Isfahan University of Medical Sciences, Isfahan, Iran. Electronic address:

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http://dx.doi.org/10.1016/j.compbiolchem.2015.09.004DOI Listing
December 2015

Identification of Proximal and Distal 22q11.2 Microduplications among Patients with Cleft Lip and/or Palate: A Novel Inherited Atypical 0.6 Mb Duplication.

Genet Res Int 2015 12;2015:398063. Epub 2015 Nov 12.

Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran ; Craniofacial and Cleft Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.

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http://dx.doi.org/10.1155/2015/398063DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4660028PMC
December 2015

Homozygous MAPT R406W mutation causing FTDP phenotype: A unique instance of a unique mutation.

Gene 2015 Oct 15;570(1):150-2. Epub 2015 Jun 15.

Neurology Department, Isfahan Neuroscience Research Center, Isfahan University of Medical Sciences, Isfahan, Iran. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2015.06.033DOI Listing
October 2015

Family-based association analysis between nonsyndromic cleft lip with or without cleft palate and IRF6 polymorphism in an Iranian population.

Clin Oral Investig 2015 May 16;19(4):891-4. Epub 2014 Sep 16.

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

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http://dx.doi.org/10.1007/s00784-014-1305-3DOI Listing
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

A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathy.

J Res Med Sci 2014 Aug;19(8):792-4

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/PMC4235102PMC
August 2014

Evaluation of multiplex ligation-dependent probe amplification analysis versus multiplex polymerase chain reaction assays in the detection of dystrophin gene rearrangements in an Iranian population subset.

Adv Biomed Res 2014 27;3:72. Epub 2014 Jan 27.

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

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http://dx.doi.org/10.4103/2277-9175.125862DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3950794PMC
March 2014

Genotype-phenotype correlation of survival motor neuron and neuronal apoptosis inhibitory protein genes in spinal muscular atrophy patients from Iran.

Adv Biomed Res 2014 27;3:74. Epub 2014 Jan 27.

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

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http://dx.doi.org/10.4103/2277-9175.125872DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3950840PMC
March 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

An insight into genetics of non-syndromic cleft palate.

Adv Biomed Res 2013 6;2. Epub 2013 Mar 6.

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

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http://dx.doi.org/10.4103/2277-9175.107969DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3732890PMC
August 2013

Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1.

Neuromuscul Disord 2013 Jun 13;23(6):469-72. Epub 2013 Apr 13.

Neurology Department, Neuroscience Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.

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http://dx.doi.org/10.1016/j.nmd.2013.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3746154PMC
June 2013

Evaluation of neural gene expression in serum treated embryonic stem cells in Alzheimer's patients.

J Res Med Sci 2013 Mar;18(Suppl 1):S20-3

Department of Medical Sciences, Islamic Azad University, Najafabad Branch, Isfahan, Iran.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3743312PMC
March 2013

The impact of educating parents of leukaemic children on the healthy siblings' quality of life.

J Pak Med Assoc 2013 Feb;63(2):249-52

Nursing and Midwifery College, Shiraz University of Medical Sciences, Shiraz, Ian.

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February 2013

A case report of 22q11 deletion syndrome confirmed by array-CGH method.

J Res Med Sci 2012 Mar;17(3):310-2

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3527053PMC
March 2012