Publications by authors named "Alireza Haghighi"

28Publications

Genetic study of pediatric hypertrophic cardiomyopathy in Egypt.

Cardiol Young 2020 Oct 5:1-7. Epub 2020 Oct 5.

Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1017/S1047951120003157DOI Listing
October 2020

Consanguinity and the Risk of Hashimoto's Thyroiditis.

Thyroid 2017 03 8;27(3):390-395. Epub 2017 Feb 8.

1 Division of Endocrinology, Diabetes and Metabolism, Department of Internal Medicine, School of Medicine, The University of Jordan, Jordan University Hospital , Amman, Jordan .

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/thy.2016.0495DOI Listing
March 2017

HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy.

Science 2015 Aug;349(6251):982-6

Division of Cardiovascular Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA. Department of Genetics, Harvard Medical School, Boston, MA 02115, USA. Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1126/science.aaa5458DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4618316PMC
August 2015

Genetics of GNE myopathy in the non-Jewish Persian population.

Eur J Hum Genet 2016 Feb 13;24(2):243-51. Epub 2015 May 13.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2015.78DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4717203PMC
February 2016

Characterization of CSF2RA mutation related juvenile pulmonary alveolar proteinosis.

Orphanet J Rare Dis 2014 Nov 26;9:171. Epub 2014 Nov 26.

Department of Pediatric Pneumology, Hauner Children's Hospital, Ludwig-Maximilians-University, Member of the German Center for Lung Research (DZL), Munich, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-014-0171-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4254258PMC
November 2014

Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.

PLoS One 2014 13;9(11):e112747. Epub 2014 Nov 13.

Institute of Medical Molecular Genetics, University of Zurich Wagistrasse 12, CH-8952 Schlieren, Switzerland; Zurich Center for Integrative Human Physiology (ZIHP), University of Zurich, Zurich, Switzerland; Neuroscience Center Zurich (ZNZ), University and ETH Zurich, Zurich, Switzerland.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0112747PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4231049PMC
July 2015

A novel missense mutation in oncostatin M receptor beta causing primary localized cutaneous amyloidosis.

Biomed Res Int 2014 26;2014:653724. Epub 2014 Jun 26.

Skin Research Center, Shohada-e-Tajrish Hospital, Shahid Beheshti University of Medical Sciences, Tehran 1989934148, Iran.

View Article

Download full-text PDF

Source
http://www.hindawi.com/journals/bmri/2014/653724/
Publisher Site
http://dx.doi.org/10.1155/2014/653724DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4099049PMC
September 2015

Homozygous p.R284* mutation in HEXB gene causing Sandhoff disease with nystagmus.

Eur J Paediatr Neurol 2014 May 21;18(3):399-403. Epub 2014 Feb 21.

Department of Genetics, Harvard Medical School, Boston, MA, USA; Department of Medicine and the Howard Hughes Medical Institute, Brigham and Women's Hospital, Boston, MA, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2014.02.002DOI Listing
May 2014

Aripiprazole versus risperidone for treating children and adolescents with tic disorder: a randomized double blind clinical trial.

Child Psychiatry Hum Dev 2014 Oct;45(5):596-603

Department of Psychiatry, Research Center for Psychiatry and Behavioral Sciences, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10578-013-0427-1DOI Listing
October 2014

Identification of a c.601C>G mutation in the CCM1 gene in a kindred with multiple skin, spinal and cerebral cavernous malformations.

J Neurol Sci 2013 Nov 7;334(1-2):97-101. Epub 2013 Aug 7.

Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK; Department of Medicine and the Howard Hughes Medical Institute, Brigham and Women's Hospital, USA; Department of Genetics, Harvard Medical School, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jns.2013.07.2518DOI Listing
November 2013

Missense mutation outside the forkhead domain of FOXL2 causes a severe form of BPES type II.

Mol Vis 2012 26;18:211-8. Epub 2012 Jan 26.

Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3272052PMC
July 2012

Senior-Loken syndrome secondary to NPHP5/IQCB1 mutation in an Iranian family.

NDT Plus 2011 Dec 18;4(6):421-3. Epub 2011 Aug 18.

Institute of Genetic Medicine, International Centre for Life, University of Newcastle, Newcastle upon Tyne, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/ndtplus/sfr096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421651PMC
December 2011

Tay-Sachs disease in an Arab family due to c.78G>A HEXA nonsense mutation encoding a p.W26X early truncation enzyme peptide.

Mol Genet Metab 2011 Dec 16;104(4):700-2. Epub 2011 Sep 16.

Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S109671921100324
Publisher Site
http://dx.doi.org/10.1016/j.ymgme.2011.09.013DOI Listing
December 2011

Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population.

J Hum Genet 2011 Sep 28;56(9):682-4. Epub 2011 Jul 28.

Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2011.78DOI Listing
September 2011