Ehsan Ghayoor Karimiani

Ehsan Ghayoor Karimiani

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Ehsan Ghayoor Karimiani

Ehsan Ghayoor Karimiani

Publications by authors named "Ehsan Ghayoor Karimiani"

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34Publications

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Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.

Acta Neuropathol 2019 Dec 9. Epub 2019 Dec 9.

Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00401-019-02109-6DOI Listing
December 2019

Hereditary thrombophilia genetic variants in recurrent pregnancy loss.

Arch Gynecol Obstet 2019 Sep 17;300(3):777-782. Epub 2019 Jul 17.

Department of Modern Sciences and Technologies, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

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http://dx.doi.org/10.1007/s00404-019-05224-7DOI Listing
September 2019

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.

J Allergy Clin Immunol 2019 Jun 13;143(6):2296-2299. Epub 2019 Feb 13.

Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Department of Blood Cell Research, Sanquin Research and Landsteiner Laboratory AMC, University of Amsterdam, Amsterdam, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2019.02.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6677392PMC
June 2019

Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia.

Am J Hum Genet 2019 05 11;104(5):936-947. Epub 2019 Apr 11.

Department of Pediatrics, Division of Genetic Medicine, University of Washington School of Medicine, Seattle, WA 98195, USA; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA 98101, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6506793PMC
May 2019

A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the Mutational Spectrum in the Middle East.

Front Pediatr 2019 21;7:89. Epub 2019 Mar 21.

Genome Research Division, Human Genetics Department, Radboud University Medical Center Nijmegen and Radboud Institute for Molecular Life Sciences, Nijmegen, Netherlands.

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https://www.frontiersin.org/article/10.3389/fped.2019.00089/
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http://dx.doi.org/10.3389/fped.2019.00089DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6437787PMC
March 2019

Common KRAS and NRAS gene mutations in sporadic colorectal cancer in Northeastern Iranian patients.

Curr Probl Cancer 2018 11 25;42(6):572-581. Epub 2018 May 25.

Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran; Cancer Genetics Research Unit, Reza Radiotherapy and Oncology Center, Mashhad, Iran; Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran. Electronic address:

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http://dx.doi.org/10.1016/j.currproblcancer.2018.05.001DOI Listing
November 2018

The report of two cases with multiple sulfatase deficiency resulting from a rare similar gene mutation.

Int J Dermatol 2018 10 26;57(10):1242-1245. Epub 2018 Feb 26.

Student Research Committee, Cardiovascular Research Center, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

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http://dx.doi.org/10.1111/ijd.13948DOI Listing
October 2018

Chromogenic in situ Hybridization Compared with Real time Quantitative Polymerase Chain Reaction to Evaluate HER2/neu Status in Breast Cancer.

Iran J Pathol 2017 1;12(2):128-134. Epub 2017 Apr 1.

Cancer Molecular pathology Research center, Faculty of Medicine, Mashhad university of Medical sciences, Mashhad, Iran.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5831068PMC
April 2017

JAK2 V617F Mutation in Adult T Cell Leukemia-Lymphoma.

Indian J Hematol Blood Transfus 2016 Dec 17;32(4):437-441. Epub 2015 Dec 17.

Cancer Molecular Pathology Research Center, Department of Hematology and Blood Bank, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

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http://dx.doi.org/10.1007/s12288-015-0620-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5074958PMC
December 2016

Ophthalmic complications among cases of head trauma in north-eastern Iran.

Int Ophthalmol 2014 Aug 18;34(4):825-9. Epub 2013 Dec 18.

Department of Neurosurgery, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.

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http://dx.doi.org/10.1007/s10792-013-9886-4DOI Listing
August 2014

Single-cell analysis of K562 cells: an imatinib-resistant subpopulation is adherent and has upregulated expression of BCR-ABL mRNA and protein.

Exp Hematol 2014 Mar 20;42(3):183-191.e5. Epub 2013 Nov 20.

Quantitative Molecular Medicine Research Group, Faculty of Medical and Human Sciences, University of Manchester, Manchester, United Kingdom.

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http://dx.doi.org/10.1016/j.exphem.2013.11.006DOI Listing
March 2014

Microfluidic channel-assisted screening of hematopoietic malignancies.

Genes Chromosomes Cancer 2014 Mar 16;53(3):255-63. Epub 2013 Dec 16.

Manchester Interdisciplinary Biocentre, University of Manchester, Manchester, M1, 7ND, UK.

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http://doi.wiley.com/10.1002/gcc.22137
Publisher Site
http://dx.doi.org/10.1002/gcc.22137DOI Listing
March 2014

Personalised treatment of haematological malignancies through systems medicine based on single molecules in single cells.

Integr Biol (Camb) 2013 May;5(5):759-67

Department of New Sciences and Technology, Mashhad University of Medical Sciences, Mashhad, Iran.

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http://dx.doi.org/10.1039/c3ib20258eDOI Listing
May 2013

Mathematical modelling of miRNA mediated BCR.ABL protein regulation in chronic myeloid leukaemia vis-a-vis therapeutic strategies.

Integr Biol (Camb) 2013 Mar;5(3):543-54

Manchester Centre for Integrative Systems Biology, Manchester Institute of Biotechnology, School for Chemical Engineering and Analytical Science, University of Manchester, Manchester, M1 7DN, UK.

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http://dx.doi.org/10.1039/c3ib20230eDOI Listing
March 2013

Expression of IL-17 and COX2 gene in peripheral blood leukocytes of vitiligo patients.

Iran J Allergy Asthma Immunol 2011 Jun;10(2):81-9

Rheumatic Disease Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.

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http://dx.doi.org/010.02/ijaai.8189DOI Listing
June 2011

Association of the expression of IL-4 and IL-13 genes, IL-4 and IgE serum levels with allergic asthma.

Iran J Allergy Asthma Immunol 2007 Jun;6(2):67-72

Department of Immunogenetics, Immunology Research Centre, Bu-Ali Research Institute, Mashhad, Iran.

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http://dx.doi.org/06.02/ijaai.6772DOI Listing
June 2007