Publications by authors named "Hossein Darvish"

72Publications

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.

Brain 2020 Oct;143(10):2929-2944

Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1093/brain/awz307DOI Listing
October 2020

A novel splice site mutation in the SDCCAG8 gene in an Iranian family with Bardet-Biedl syndrome.

Int Ophthalmol 2020 Sep 14. Epub 2020 Sep 14.

Molecular Medicine Research Center, Tabriz University of Medical Sciences, Tabriz, Iran.

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http://dx.doi.org/10.1007/s10792-020-01588-xDOI Listing
September 2020

Incomplete penetrance of MITF gene c.943C>T mutation in an extended family with Waardenburg syndrome type II.

Int J Pediatr Otorhinolaryngol 2020 Aug 21;135:110014. Epub 2020 Apr 21.

Cancer Research Center, Semnan University of Medical Sciences, Semnan, Iran; Department of Medical Genetics, Semnan University of Medical Sciences, Semnan, Iran. Electronic address:

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http://dx.doi.org/10.1016/j.ijporl.2020.110014DOI Listing
August 2020

Homozygous Mutation in TWNK Cases Ataxia, Sensorineural Hearing Loss and Optic Nerve Atrophy.

Arch Iran Med 2019 12 1;22(12):728-730. Epub 2019 Dec 1.

Noncommunicable Diseases Research Center, Fasa University of Medical Sciences, Fasa, Iran.

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December 2019

Genotype-phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients.

J Neurol 2019 Nov 19. Epub 2019 Nov 19.

Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Velenjak St., Shahid Chamran Highway, Tehran, IR, Iran.

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http://dx.doi.org/10.1007/s00415-019-09633-1DOI Listing
November 2019

Novel ABCD1 gene mutations in Iranian pedigrees with X-linked adrenoleukodystrophy.

J Pediatr Endocrinol Metab 2019 Nov;32(11):1207-1215

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

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http://dx.doi.org/10.1515/jpem-2019-0244DOI Listing
November 2019

A novel mutation causes intellectual disability with autistic and aggressive behaviors.

Neurol Genet 2019 Oct 4;5(5):e356. Epub 2019 Sep 4.

Cancer Research Center (H.D.), Semnan University of Medical Sciences; Department of Medical Genetics (H.D., E.A., F.J.), School of Medicine, Semnan University of Medical Sciences, Iran; Department of Neurosciences (L.J.A.) and Department of Neurology (L.J.A., J.C.J., C.P.-R.), Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York; Iranian Center of Neurological Research (A.T.), Neuroscience Institute, Tehran University of Medical Sciences, Iran; Department of Otolaryngology (J.C.J.), Department of Neurosurgery (J.C.J.), Department of Psychiatry (C.P.-R.), Department of Genetics and Genomic Sciences (C.P.-R.), Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place; Mindich Child Health and Development Institute (C.P.-R.), Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place; and Friedman Brain Institute (C.P.-R.), Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York.

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http://dx.doi.org/10.1212/NXG.0000000000000356DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6745718PMC
October 2019

Incomplete penetrance of gene for autosomal dominant form of cone-rod dystrophy.

Ophthalmic Genet 2019 06 19;40(3):259-266. Epub 2019 Jun 19.

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

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http://dx.doi.org/10.1080/13816810.2019.1622023DOI Listing
June 2019

Expression analysis and genotyping of DGKZ: a GWAS-derived risk gene for schizophrenia.

Mol Biol Rep 2019 Aug 13;46(4):4105-4111. Epub 2019 May 13.

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

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http://dx.doi.org/10.1007/s11033-019-04860-1DOI Listing
August 2019

Features, genetics and their correlation in Jalili syndrome: a systematic review.

J Med Genet 2019 06 31;56(6):358-369. Epub 2019 Jan 31.

Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran (the Islamic Republic of).

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2018-105716
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http://dx.doi.org/10.1136/jmedgenet-2018-105716DOI Listing
June 2019

Identification of a large homozygous VPS13C deletion in a patient with early-onset Parkinsonism.

Mov Disord 2018 12 19;33(12):1968-1970. Epub 2018 Nov 19.

Department of Neurology, Icahn School of Medicine at Mount Sinai, One Gustave L, New York, New York, USA.

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http://dx.doi.org/10.1002/mds.27516DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309582PMC
December 2018

Molecular characterization of PRKN structural variations identified through whole-genome sequencing.

Mol Genet Genomic Med 2018 11 16;6(6):1243-1248. Epub 2018 Oct 16.

Department of Neurology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, New York.

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http://doi.wiley.com/10.1002/mgg3.482
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http://dx.doi.org/10.1002/mgg3.482DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305656PMC
November 2018

RIT2: responsible and susceptible gene for neurological and psychiatric disorders.

Mol Genet Genomics 2018 Aug 2;293(4):785-792. Epub 2018 Jun 2.

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

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http://dx.doi.org/10.1007/s00438-018-1451-4DOI Listing
August 2018

Influence of Helicobacter pylori virulence factors CagA and VacA on pathogenesis of gastrointestinal disorders.

Microb Pathog 2018 Apr 9;117:43-48. Epub 2018 Feb 9.

Cellular and Molecular Biology Research Center, Health Research Institute, Babol University of Medical Sciences, Babol, Iran. Electronic address:

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http://dx.doi.org/10.1016/j.micpath.2018.02.016DOI Listing
April 2018

Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation.

Neurobiol Aging 2018 02 23;62:244.e15-244.e17. Epub 2017 Oct 23.

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

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http://dx.doi.org/10.1016/j.neurobiolaging.2017.10.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5743634PMC
February 2018

Whole genome sequencing identifies a novel homozygous exon deletion in the gene in a family with intellectual disability and spastic paraplegia.

NPJ Genom Med 2017 1;2. Epub 2017 Jun 1.

Departments of Neurology, Psychiatry, and Genetics and Genomic sciences, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY 10029, USA.

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http://dx.doi.org/10.1038/s41525-017-0022-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5675118PMC
June 2017

A novel c.240_241insGG mutation in NDP gene in a family with Norrie disease.

Clin Exp Optom 2018 03 18;101(2):255-259. Epub 2017 Sep 18.

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

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http://dx.doi.org/10.1111/cxo.12599DOI Listing
March 2018

A novel mutation in SMOC1 and variable phenotypic expression in two patients with Waardenburg anophthalmia syndrome.

Eur J Med Genet 2017 Nov 12;60(11):578-582. Epub 2017 Aug 12.

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

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173019
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http://dx.doi.org/10.1016/j.ejmg.2017.08.006DOI Listing
November 2017

hOGG1 gene polymorphism and breast cancer risk: A systematic review and meta-analysis study.

Breast J 2018 01 13;24(1):70-73. Epub 2017 Jun 13.

Department of Social Medicine, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

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http://dx.doi.org/10.1111/tbj.12842DOI Listing
January 2018

Association of β-Secretase Functional Polymorphism with Risk of Schizophrenia.

Genet Test Mol Biomarkers 2017 Apr 21;21(4):248-251. Epub 2017 Feb 21.

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

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http://dx.doi.org/10.1089/gtmb.2016.0262DOI Listing
April 2017

RAB7L1 promoter polymorphism and risk of Parkinson's disease; a case-control study.

Neurol Res 2017 May 28;39(5):468-471. Epub 2017 Feb 28.

f Faculty of Medicine, Department of Medical Genetics , Tabriz University of Medical Sciences , Tabriz , Iran.

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http://dx.doi.org/10.1080/01616412.2017.1297558DOI Listing
May 2017

The human RIT2 core promoter short tandem repeat predominant allele is species-specific in length: a selective advantage for human evolution?

Mol Genet Genomics 2017 Jun 18;292(3):611-617. Epub 2017 Feb 18.

Iranian Research Center on Aging, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

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http://dx.doi.org/10.1007/s00438-017-1294-4DOI Listing
June 2017

Emery-Dreifuss Muscular Dystrophy: a Report of a Large Family with 11 Affected Individuals.

Int J Mol Cell Med 2016 4;5(3):196-198. Epub 2016 Sep 4.

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5125372PMC
September 2016

A genetic variant in miRNA binding site of glutamate receptor 4, metabotropic (GRM4) is associated with increased risk of major depressive disorder.

J Affect Disord 2017 01 17;208:218-222. Epub 2016 Oct 17.

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

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http://dx.doi.org/10.1016/j.jad.2016.10.008DOI Listing
January 2017

SNAP-25 gene variations and attention-deficit hyperactivity disorder in Iranian population.

Neurol Res 2016 Nov 15;38(11):959-964. Epub 2016 Sep 15.

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

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http://dx.doi.org/10.1080/01616412.2016.1232548DOI Listing
November 2016

Genetic Analysis of the ZNF512B, SLC41A1, and ALDH2 Polymorphisms in Parkinson's Disease in the Iranian Population.

Genet Test Mol Biomarkers 2016 Oct 9;20(10):629-632. Epub 2016 Sep 9.

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

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http://dx.doi.org/10.1089/gtmb.2016.0133DOI Listing
October 2016

Screening for intermediate CGG alleles of FMR1 gene in male Iranian patients with Parkinsonism.

Neurol Sci 2017 Jan 1;38(1):123-128. Epub 2016 Oct 1.

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

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http://dx.doi.org/10.1007/s10072-016-2723-6DOI Listing
January 2017

SIPA1L2, MIR4697, GCH1 and VPS13C loci and risk of Parkinson's diseases in Iranian population: A case-control study.

J Neurol Sci 2016 Oct 2;369:1-4. Epub 2016 Aug 2.

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

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http://dx.doi.org/10.1016/j.jns.2016.08.001DOI Listing
October 2016

Bioinformatic tools to determine the pathogenicity of a missense mutation in PKHD1 in autosomal recessive polycystic kidney disease.

Nephrology (Carlton) 2017 04;22(4):330-331

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

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http://dx.doi.org/10.1111/nep.12919DOI Listing
April 2017

A Novel PKD1 Mutation in a Patient with Autosomal Dominant Polycystic Kidney Disease.

Int J Mol Cell Med 2016 8;5(2):123-4. Epub 2016 Jun 8.

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4947217PMC
August 2016

Identification of a Large DNAJB2 Deletion in a Family with Spinal Muscular Atrophy and Parkinsonism.

Hum Mutat 2016 11 21;37(11):1180-1189. Epub 2016 Aug 21.

Department of Neurology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York City, New York.

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http://dx.doi.org/10.1002/humu.23055DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5375037PMC
November 2016

XRCC1 and OGG1 Gene Polymorphisms and Breast Cancer: A Systematic Review of Literature.

Iran J Cancer Prev 2016 Feb 23;9(1):e3467. Epub 2016 Feb 23.

School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran; Iranian Research Center on Healthy Aging, Sabzevar University of Medical Sciences, Sabzevar, IR Iran; Faculty of Health Sciences, Simon Fraser University, BC., Canada.

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http://dx.doi.org/10.17795/ijcp-3467DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4922200PMC
February 2016

Glutamate receptor, metabotropic 7 (GRM7) gene variations and susceptibility to autism: A case-control study.

Autism Res 2016 11 17;9(11):1161-1168. Epub 2016 Jun 17.

From the Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

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http://dx.doi.org/10.1002/aur.1640DOI Listing
November 2016

XRCC1 Gene Polymorphisms and Breast Cancer Risk: A Systematic Review and Meta- Analysis Study.

Asian Pac J Cancer Prev 2016 ;17(S3):323-30

School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran E-mail:

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http://dx.doi.org/10.7314/apjcp.2016.17.s3.323DOI Listing
February 2017

Analysis of CYP17, CYP19 and CYP1A1 Gene Polymorphisms in Iranian Women with Breast Cancer.

Asian Pac J Cancer Prev 2016 ;17(S3):23-6

Infertility and Reproductive Health Research Centre (IRHRC), School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran E-mail:

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http://dx.doi.org/10.7314/apjcp.2016.17.s3.23DOI Listing
February 2017

Monoamine oxidase a gene polymorphisms and bipolar disorder in Iranian population.

Iran Red Crescent Med J 2015 Feb 21;17(2):e23095. Epub 2015 Feb 21.

Department of Psychiatry, Imam Hossein Hospital, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran.

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http://dx.doi.org/10.5812/ircmj.23095DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4353216PMC
February 2015

RIT2, a susceptibility gene for Parkinson's disease in Iranian population.

Neurobiol Aging 2014 Dec 19;35(12):e27-e28. Epub 2014 Jul 19.

Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.07.013DOI Listing
December 2014

Core promoter short tandem repeats as evolutionary switch codes for primate speciation.

Am J Primatol 2015 Jan 5;77(1):34-43. Epub 2014 Aug 5.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

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http://dx.doi.org/10.1002/ajp.22308DOI Listing
January 2015

Variable phenotypic expression in families with early-onset Parkinsonism due to PRKN mutations.

J Neurol 2014 Jun 30;261(6):1223-6. Epub 2014 Apr 30.

Movement Disorders Clinic, Hazrat Rasool Hospital, Tehran University of Medical Sciences, Tehran, Iran.

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http://dx.doi.org/10.1007/s00415-014-7360-5DOI Listing
June 2014

FABP9 Mutations Are Not Detected in Cases of Infertility due to Sperm Morphological Defects in Iranian Men.

Int J Fertil Steril 2014 Jan 22;7(4):275-80. Epub 2013 Dec 22.

Nanobiotechnology Research Center, Avicenna Research Institute, ACECR, Tehran, Iran.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3901177PMC
January 2014