Publications by authors named "Elon Pras"

83Publications

Chromosomal Microarray Evaluation of Fetal Ventriculomegaly.

Isr Med Assoc J 2020 10;22(10):639-644

Department of Obstetrics and Gynecology, Sheba Medical Center, Tel Hashomer, Israel.

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October 2020

Familial Mediterranean fever: Penetrance of the p.[Met694Val];[Glu148Gln] and p.[Met694Val];[=] genotypes.

Hum Mutat 2020 Nov 5;41(11):1866-1870. Epub 2020 Oct 5.

The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Ramat Gan, Israel.

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November 2020

Clues and challenges in the diagnosis of intermittent maple syrup urine disease.

Eur J Med Genet 2020 Jun 6;63(6):103901. Epub 2020 Mar 6.

Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Electronic address:

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June 2020

Prenatal diagnosis for de novo mutations: Experience from a tertiary center over a 10-year period.

Mol Genet Genomic Med 2019 04 28;7(4):e00573. Epub 2019 Jan 28.

The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.

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April 2019

A false-carrier state for the c.579G>A mutation in the NCF1 gene in Ashkenazi Jews.

J Med Genet 2018 03 13;55(3):166-172. Epub 2018 Jan 13.

The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan, Israel and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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March 2018

Novelties in the field of autoimmunity - 1st Saint Petersburg congress of autoimmunity, the bridge between east and west.

Autoimmun Rev 2017 12 14;16(12):1175-1184. Epub 2017 Oct 14.

Zabludowicz Center for Autoimmune Diseases, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Incumbent of the Laura Schwarz-Kipp chair for research of autoimmune diseases, Sackler Faculty of Medicine, Tel Aviv University, Israel; Laboratory of the Mosaic of Autoimmunity, Department of Pathology, Faculty of Medicine, Saint Petersburg State University, Russia. Electronic address:

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December 2017

Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.

J Exp Med 2016 07 18;213(8):1429-40. Epub 2016 Jul 18.

Pediatric Department A and Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel The Wohl Institute for Translational Medicine, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel

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July 2016

Fishing for Genes in Autoimmunity.

Isr Med Assoc J 2016 Mar-Apr;18(3-4):209-11

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June 2016

The risk for developing cancer in Israeli ATM, BLM, and FANCC heterozygous mutation carriers.

Cancer Genet 2016 Mar 22;209(3):70-4. Epub 2015 Dec 22.

Susanne Levy Gertner Oncogenetics Unit, Sheba Medical Center, Tel-Hashomer, Israel; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Electronic address:

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March 2016

TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability.

Eur J Paediatr Neurol 2016 Jan 22;20(1):69-79. Epub 2015 Oct 22.

Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, The Chaim Sheba Med. Ctr., Israel; The Sackler School of Medicine, Tel Aviv University, 69978, Tel Aviv, Israel. Electronic address:

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January 2016

A novel mutation in the C7orf11 gene causes nonphotosensitive trichothiodystrophy in a multiplex highly consanguineous kindred.

Eur J Med Genet 2015 Dec 27;58(12):685-8. Epub 2015 Oct 27.

Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

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December 2015

The limited effect of information on Israeli pregnant women at advanced maternal age who decide to undergo amniocentesis.

Isr J Health Policy Res 2015 17;4:23. Epub 2015 Aug 17.

The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel ; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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August 2015

A Priori Attitudes Predict Amniocentesis Uptake in Women of Advanced Maternal Age: A Pilot Study.

J Health Commun 2015 11;20(9):1107-13. Epub 2015 Jun 11.

a Department of OB/GYN , University of California Davis Medical Center , Sacramento , California , USA.

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November 2015

Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degeneration.

J Med Genet 2015 Jul 18;52(7):484-92. Epub 2015 May 18.

Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel Danek Gartener Institute of Human Genetics, Sheba Medical Center, Tel Aviv University, Tel Aviv, Israel.

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July 2015

FMR1 CGG allele length in Israeli BRCA1/BRCA2 mutation carriers and the general population display distinct distribution patterns.

Genet Res (Camb) 2014 Oct 8;96:e11. Epub 2014 Oct 8.

Susanne Levy Gertner Oncogenetics Unit,The Danek Gertner Institute of Human Genetics, and theGyneco-oncology Department,Chaim Sheba Medical Center, Tel-Hashomer and the Sackler School of Medicine, Tel-Aviv University,Ramat AvivIsrael.

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October 2014

Factors that affect the decision to undergo amniocentesis in women with normal Down syndrome screening results: it is all about the age.

Health Expect 2015 Dec 12;18(6):2306-17. Epub 2014 May 12.

The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel.

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December 2015

Collaboration in response to disaster--Typhoon Yolanda and an integrative model.

N Engl J Med 2014 Mar 19;370(13):1183-4. Epub 2014 Feb 19.

From the Israel Defense Forces Medical Corps Field Hospital, Tel Hashomer (O.M., Y.K., G.L., E.P., D.D.); the Department of Cardiac Surgery, Trauma Unit, Shaare Zedek Medical Center (O.M.), and the Department of Military Medicine (Y.K.), Hebrew University, Jerusalem; the Trauma Unit, Meir Medical Center, Tel Aviv University Sackler School of Medicine, Kfar Saba (G.L.); and the Danek Gertner Institute of Human Genetics, Sheba Medical Center, Ramat Gan (E.P.) - all in Israel.

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March 2014

Titin mutation in familial restrictive cardiomyopathy.

Int J Cardiol 2014 Jan 25;171(1):24-30. Epub 2013 Nov 25.

Heart Failure Service and Heart Institute, Tel Aviv University, Tel Aviv, Israel. Electronic address:

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January 2014

Three peaks in the polymerase chain reaction fragile X analysis.

J Med Screen 2012 Sep;19(3):112-5

The Genetic Institute and Ob/Gyn Department, Meir Medical Center, Kfar Saba, Israel.

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September 2012

Incomplete response to colchicine in M694V homozygote FMF patients.

Autoimmun Rev 2012 Nov 2;12(1):72-6. Epub 2012 Aug 2.

Department of Medicine F, Sheba Medical Center, Israel.

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November 2012

A novel titin mutation in adult-onset familial dilated cardiomyopathy.

Am J Cardiol 2012 Jun 3;109(11):1644-50. Epub 2012 Apr 3.

Heart Failure Service and Heart Institute, Sheba Medical Center, Tel Hashomer, Tel Aviv University, Tel Aviv, Israel.

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June 2012

NOD2/CARD15 gene mutations in patients with familial Mediterranean fever.

Semin Arthritis Rheum 2012 Aug 12;42(1):84-8. Epub 2012 Jan 12.

Department of Pediatrics and Pediatric Rheumatology, Hadassah Hebrew University Medical Center, Mount Scopus, Jerusalem, Israel.

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August 2012

The D1152H cystic fibrosis mutation in prenatal carrier screening, patients and prenatal diagnosis.

J Med Screen 2011 7;18(4):169-72. Epub 2011 Dec 7.

The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel.

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April 2012

Mutations in FYCO1 cause autosomal-recessive congenital cataracts.

Am J Hum Genet 2011 Jun;88(6):827-838

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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June 2011

X inactivation testing for identifying a non-syndromic X-linked mental retardation gene.

J Appl Genet 2011 Nov 17;52(4):437-41. Epub 2011 May 17.

The Danek Gartner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel.

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November 2011

A novel mutation in the HCN4 gene causes symptomatic sinus bradycardia in Moroccan Jews.

J Cardiovasc Electrophysiol 2010 Dec;21(12):1365-72

Heart Institute, Sheba Medical Center, Tel Hashomer, Israel Department of Physiology and Pharmacology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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December 2010

Role of the R92Q TNFRSF1A mutation in patients with familial Mediterranean fever.

Arthritis Care Res (Hoboken) 2010 Sep;62(9):1294-8

Sheba Medical Center, Ramat Gan, and Tel Aviv University, Ramat Aviv, Israel.

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September 2010

Familial Mediterranean Fever in the first two years of life: a unique phenotype of disease in evolution.

J Pediatr 2010 Jun 15;156(6):985-989. Epub 2010 Mar 15.

Department of Pediatrics A, Edmond & Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel; Sackler School of Medicine, Tel-Aviv University, Israel.

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June 2010

Familial Mediterranean fever in children presenting with attacks of fever alone.

J Rheumatol 2010 Apr 1;37(4):865-9. Epub 2010 Mar 1.

Department of Pediatrics A, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.

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April 2010

Cone-rod dystrophy and a frameshift mutation in the PROM1 gene.

Mol Vis 2009 Aug 28;15:1709-16. Epub 2009 Aug 28.

Department of Ophthalmology, Assaf Harofeh Medical Center, Zerifin, 70300, Israel.

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August 2009

Clinical disease among patients heterozygous for familial Mediterranean fever.

Arthritis Rheum 2009 Jun;60(6):1862-6

Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel, and Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel.

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June 2009

Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome.

Am J Hum Genet 2008 May 1;82(5):1217-22. Epub 2008 May 1.

Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer 52621, Israel.

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May 2008

Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria.

Hum Genet 2007 Sep;122(2):215

Servizio di Genetica Medica, IRCCS Casa Sollievo della Sofferenza, FG, Viale Padre Pio, 1, 71013, San Giovanni Rotondo, Italy.

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September 2007

A combined approach to the molecular analysis of cystinuria: from urinalysis to sequencing via genotyping.

Isr Med Assoc J 2007 Jul;9(7):513-6

Pediatric Nephrology Unit, Sheba Medical Center, Tel Hashomer, Israel Affiliated to Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel.

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July 2007

The genetic basis of malignant hyperthermia.

Isr Med Assoc J 2007 Jan;9(1):39-41

Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel.

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January 2007

Mapping of a gene causing brittle cornea syndrome in Tunisian jews to 16q24.

Invest Ophthalmol Vis Sci 2006 Dec;47(12):5283-7

Danek Gartner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel.

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December 2006

Confirmation of the association between male pattern baldness and the androgen receptor gene.

Eur J Dermatol 2005 Sep-Oct;15(5):339-40

Danek Gartner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel.

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January 2006

A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts.

Invest Ophthalmol Vis Sci 2004 Jun;45(6):1940-5

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892-1860, USA.

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June 2004

Human ACE I/D polymorphism is associated with individual differences in exercise heat tolerance.

J Appl Physiol (1985) 2004 Jul 27;97(1):72-6. Epub 2004 Feb 27.

Heller Institute of Medical Research, Tel Aviv University, Tel Hashomer 52621, Israel.

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July 2004

A novel form of familial bidirectional ventricular tachycardia.

Am J Cardiol 2004 Jan;93(2):231-4

Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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January 2004

Clinical manifestations in Israeli cystinuria patients and molecular assessment of carrier rates in Libyan Jewish controls.

Isr Med Assoc J 2003 Jun;5(6):439-42

Danek Gartner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel.

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June 2003

Autosomal recessive catecholamine-induced polymorphic ventricular tachycardia.

Exp Clin Cardiol 2002 ;7(2-3):128-30

Danek Gartner Institute of Human Genetics, Neufeld Cardiac Research Institute and Heart Institute, Sheba Medical Center Tel Hashomer, and Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

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August 2012

A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family.

Am J Hum Genet 2002 May 26;70(5):1363-7. Epub 2002 Mar 26.

Department of Ophthalmology, Sapir Medical Center, Kfar Saba; and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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May 2002