Publications by authors named "Yael Shinar"

28Publications

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

Hum Mutat 2020 Aug 2. Epub 2020 Aug 2.

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

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http://dx.doi.org/10.1002/humu.24090DOI Listing
August 2020

[A CLINICAL DISCUSSION: FEVER OF UNKNOWN ORIGIN IN THE MODERN ERA - MORE QUESTIONS THAN ANSWERS].

Harefuah 2019 Dec;158(12):787-788

Laboratory of FMF, Amyloidosis and Rare Autoinflammatory Diseases, Sheba Medical Center, Tel Hashomer, Israel.

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December 2019

Current practices for the genetic diagnosis of autoinflammatory diseases: results of a European Molecular Genetics Quality Network Survey.

Eur J Hum Genet 2019 10 11;27(10):1502-1508. Epub 2019 Jun 11.

INSERM, Department of Medical Genetics, Rare Diseases and Personalized Medicine, University of Montpellier, CEREMAIA, CHU Montpellier, Montpellier, France.

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http://dx.doi.org/10.1038/s41431-019-0439-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777449PMC
October 2019

Reply.

Arthritis Rheumatol 2018 07 14;70(7):1167-1168. Epub 2018 May 14.

Sheba Medical Center, Tel Hashomer, Israel.

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http://dx.doi.org/10.1002/art.40496DOI Listing
July 2018

A high and equal prevalence of the Q703K variant in NLRP3 patients with autoinflammatory symptoms and ethnically matched controls.

Clin Exp Rheumatol 2017 Nov-Dec;35 Suppl 108(6):82-85. Epub 2017 Oct 6.

Sheba Medical Centre, affiliated to the Sackler School of Medicine, Tel Aviv University, Israel.

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February 2018

Carriage of Mediterranean Fever (MEFV) Mutations in Patients with Postpericardiotomy Syndrome (PPS).

Isr Med Assoc J 2017 Sep;19(9):562-565

Department of Internal Medicine F, Sheba Medical Center, Tel Hashomer, Israel.

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September 2017

Distressing Visions at the End of Life: Case Report and Review of the Literature.

J Pastoral Care Counsel 2015 Dec;69(4):251-3

University of Michigan, USA

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http://dx.doi.org/10.1177/1542305015616103DOI Listing
December 2015

Familial Mediterranean fever (FMF) with proteinuria: clinical features, histology, predictors, and prognosis in a cohort of 25 patients.

J Rheumatol 2013 Dec 15;40(12):2083-7. Epub 2013 Oct 15.

From the Institute of Nephrology and Hypertension, Sheba Medical Center, Tel Hashomer; Heller Institute of Medical Research, Sheba Medical Center, Tel Hashomer; Department of Pathology, Sheba Medical Center, Tel Hashomer; Department of Pathology, Hadassah-Hebrew University Medical Center, Jerusalem; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv; The Dr. Pinchas Borenstein Talpiot Medical Leadership Program 2012, Chaim Sheba Medical Center, Tel Hashomer, Israel.

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http://dx.doi.org/10.3899/jrheum.130520DOI Listing
December 2013

E148Q MEFV mutation carriage and longevity in individuals of Ashkenazi origin.

Immunol Res 2013 Jul;56(2-3):371-5

Medicine F and Heller Institute of Medical Research, Sheba Medical Center, Tel-Hashomer, Israel.

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http://dx.doi.org/10.1007/s12026-013-8414-yDOI Listing
July 2013

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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http://dx.doi.org/10.1016/j.semarthrit.2011.12.002DOI Listing
August 2012

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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http://dx.doi.org/10.1002/acr.20213DOI Listing
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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http://dx.doi.org/10.1016/j.jpeds.2009.12.010DOI Listing
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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http://dx.doi.org/10.3899/jrheum.090687DOI Listing
April 2010

MEFV mutation carriage in Israeli Jewish individuals from ethnicities with low risk for familial Mediterranean fever.

J Hum Genet 2009 Jun 17;54(6):369-71. Epub 2009 Apr 17.

Department of Medicine F, Sheba Medical Center, Heller Institute of Medical Research, Ramat Gan, Israel.

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http://dx.doi.org/10.1038/jhg.2009.33DOI Listing
June 2009

Transthyretin amyloidosis in a patient of Iranian-Jewish extraction: a second Israeli-Jewish case.

Clin Chem Lab Med 2007 ;45(5):625-8

Heller Institute of Medical Research, Sheba Medical Center, Tel-Hashomer, Israel.

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http://dx.doi.org/10.1515/CCLM.2007.129DOI Listing
September 2007

Neuropsychiatric and cognitive features in autosomal-recessive early parkinsonism due to PINK1 mutations.

Mov Disord 2007 Mar;22(4):566-9

Department of Neurology, The Sagol Neuroscience Center, Tel-Aviv University, Tel-Aviv, Israel.

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http://dx.doi.org/10.1002/mds.21319DOI Listing
March 2007

Long-term outcomes in difficult-to-treat patients with recurrent pericarditis.

Am J Cardiol 2006 Jul 5;98(2):267-71. Epub 2006 Jun 5.

Department of Internal Medicine, Ospedale Niguarda, Milano, Department of Rheumatology, University of Padua, Italy.

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http://dx.doi.org/10.1016/j.amjcard.2006.01.086DOI Listing
July 2006

Evaluation of disease severity in familial Mediterranean fever.

Semin Arthritis Rheum 2005 Aug;35(1):57-64

Sheba Medical Center, Tel-Hashomer and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

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http://dx.doi.org/10.1016/j.semarthrit.2005.02.002DOI Listing
August 2005

Colchicine nonresponsiveness in familial Mediterranean fever: clinical, genetic, pharmacokinetic, and socioeconomic characterization.

Semin Arthritis Rheum 2004 Feb;33(4):273-82

Heller Institute of Medical Research, Sheba Medical Center, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Hashomer, Israel.

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http://dx.doi.org/10.1053/s0049-0172(03)00137-9DOI Listing
February 2004

Analysis of the three most common MEFV mutations in 412 patients with familial Mediterranean fever.

Isr Med Assoc J 2003 Aug;5(8):585-8

Heller Institute of Medical Research, Sheba Medical Center, Tel Hashomer, Israel.

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August 2003

Clinical and diagnostic value of genetic testing in 216 Israeli children with Familial Mediterranean fever.

J Rheumatol 2003 Jan;30(1):185-90

Department of Pediatrics, Sheba Medical Center, Tel Hashomer, Israel.

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January 2003