Reza Maroofian

Reza Maroofian

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Reza Maroofian

Reza Maroofian

Publications by authors named "Reza Maroofian"

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Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia.

Am J Hum Genet 2019 Dec 21;105(6):1294-1301. Epub 2019 Nov 21.

Institute of Medical Biology, Agency for Science, Technology, and Research, 8A Biomedical Grove, Singapore 138648, Republic of Singapore; Institute of Molecular and Cell Biology, Agency for Science, Technology, and Research, 61 Biopolis Drive, Singapore 138673, Republic of Singapore; Department of Medical Genetics, Koç University, School of Medicine, 34010 Topkapı, Istanbul, Turkey. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.10.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6904794PMC
December 2019

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

Further supporting evidence for phenotypic and allelic heterogeneity.

Neurol Genet 2019 Dec 15;5(6):e379. Epub 2019 Nov 15.

Department of Neuromuscular Disorders Institute of Neurology (R.M., R.K., V.S., H.H.), University College London, Queen Square; and Medical Genetics Laboratory of Genome (M.B., M.S.), Isfahan, Iran.

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http://dx.doi.org/10.1212/NXG.0000000000000379DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878944PMC
December 2019

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 2019 07 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/s41467-019-10910-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132PMC
July 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

Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the Child.

Kidney Int Rep 2018 Nov 29;3(6):1454-1463. Epub 2018 Jul 29.

Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University, Faculty of Medicine, Freiburg, Germany.

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https://linkinghub.elsevier.com/retrieve/pii/S24680249183016
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http://dx.doi.org/10.1016/j.ekir.2018.07.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6224678PMC
November 2018

Potential role of gender specific effect of leptin receptor deficiency in an extended consanguineous family with severe early-onset obesity.

Eur J Med Genet 2018 Aug 12;61(8):465-467. Epub 2018 Mar 12.

Molecular and Clinical Sciences Institute, St George's University of London, Cranmer Terrace, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.03.006DOI Listing
August 2018

Biallelic mutations in early-onset, variably progressive neurodegeneration.

Neurology 2018 07 29;91(4):e319-e330. Epub 2018 Jun 29.

From the Genetics and Rare Diseases Research Division (V.M., G.C., T.R., M.D.N., A.C., F.P., R.C., M.T.), Ospedale Pediatrico Bambino Gesù; Department of Oncology and Molecular Medicine (E.F., S.M.) and Confocal Microscopy Unit (S.C.), Core Facilities, Istituto Superiore di Sanità, Rome, Italy; Center for Human Disease Modeling (Z.K., M.M.K., N.K.), Duke University School of Medicine, Durham, NC; Institutes of Neurology (G.P., S.S.) and Nuclear Medicine (D.D.G.), Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli, Rome, Italy; Department of Genetics (H.G., N.M.), Faculty of Science, Shahid Chamran University of Ahvaz; Narges Medical Genetics and Prenatal Diagnosis Laboratory (H.G., N.M., A. Sedaghat, J.Z., G.R.S.), Kianpars, Ahvaz; Research and Clinical Center for Infertility (M.D.), Yazd Reproductive Sciences Institute, Medical Genetics Research Centre (M.D., M.Y.V.M.), and Department of Medical Genetics (M.Y.V.M.), Shahid Sadoughi University of Medical Sciences, Yazd, Iran; Department of Experimental Medicine (A.T., V.C.), Università "Sapienza," Rome, Italy; Genetics and Molecular Cell Sciences Research Centre (Y.J., R.M.), St. George's University of London, UK; Department of Paediatric Neurology (R.A.M.), Golestan Medical, Educational, and Research Center, and Department of Medical Genetics (G.R.S.), Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Iran; University of Exeter Medical School (A.R.J.), RILD, Royal Devon & Exeter Hospital, UK; and Department of Neurology (A. Sherafat), Kerman University of Medical Sciences, Iran.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000005869DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6070386PMC
July 2018

A Genotype-First Approach for Clinical and Genetic Evaluation of Wolcott-Rallison Syndrome in a Large Cohort of Iranian Children With Neonatal Diabetes.

Can J Diabetes 2018 Jun 23;42(3):272-275. Epub 2017 Aug 23.

Metabolic Disorders Research Center, Endocrinology and Metabolism Molecular-Cellular Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S14992671173012
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http://dx.doi.org/10.1016/j.jcjd.2017.06.009DOI Listing
June 2018

Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family.

Mol Syndromol 2017 Dec 22;9(1):5-14. Epub 2017 Sep 22.

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

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http://dx.doi.org/10.1159/000480458DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5803684PMC
December 2017

Digenic inheritance of mutations in the cardiac troponin (TNNT2) and cardiac beta myosin heavy chain (MYH7) as the cause of severe dilated cardiomyopathy.

Eur J Med Genet 2017 Sep 19;60(9):485-488. Epub 2017 Jun 19.

Cardiovascular and Cell Sciences Institute, St George's University of London, Cranmer Terrace, London, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173004
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http://dx.doi.org/10.1016/j.ejmg.2017.06.008DOI Listing
September 2017

Novel EYA1 variants causing Branchio-oto-renal syndrome.

Int J Pediatr Otorhinolaryngol 2017 Jul 26;98:59-63. Epub 2017 Apr 26.

John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA; Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ijporl.2017.04.037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5516569PMC
July 2017

A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report.

Iran J Public Health 2016 Oct;45(10):1359-1366

Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran; Research and Clinical Center for Infertility, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5149501PMC
October 2016