Ruth Gershoni-Baruch

Ruth Gershoni-Baruch

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Ruth Gershoni-Baruch

Ruth Gershoni-Baruch

Publications by authors named "Ruth Gershoni-Baruch"

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77Publications

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LRRK2, GBA and SMPD1 Founder Mutations and Parkinson's Disease in Ashkenazi Jews.

Dement Geriatr Cogn Disord 2016 23;42(1-2):1-6. Epub 2016 Jul 23.

Department of Nursing, Faculty of Social Welfare and Health Sciences, University of Haifa, Haifa, Israel.

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http://dx.doi.org/10.1159/000447450DOI Listing
January 2018

Latitudinal Clines of the Human Vitamin D Receptor and Skin Color Genes.

G3 (Bethesda) 2016 05 3;6(5):1251-66. Epub 2016 May 3.

Rappaport Family Faculty of Medicine, The Technion - Israel Institute of Technology, Haifa 30196, Israel, Haifa, Israel.

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http://dx.doi.org/10.1534/g3.115.026773DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4856077PMC
May 2016

Colchicine as a therapeutic option in periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) syndrome.

Semin Arthritis Rheum 2016 Feb 21;45(4):471-4. Epub 2015 Jul 21.

Department of Pediatrics B, Meyer Children's Hospital, Rambam Medical Center, Haifa, Israel; Pediatric Rheumatology Service, Meyer Children's Hospital, Rambam Medical Center, Haifa, Israel; Rappaport Faculty of Medicine, Technion-lsrael Institute of Technology, Haifa, Israel.

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http://dx.doi.org/10.1016/j.semarthrit.2015.07.005DOI Listing
February 2016

Israeli Society of Medical Genetics NIPT Committee Opinion 072013: Non-invasive prenatal testing of cell-free DNA in maternal plasma for detection of fetal aneuploidy.

Fetal Diagn Ther 2014 13;36(3):242-4. Epub 2014 Aug 13.

Medical Genetics Institute, Shaare Zedek Medical Center, Hebrew University of Jerusalem, Jerusalem, Israel.

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http://dx.doi.org/10.1159/000360420DOI Listing
June 2015

A Novel Missense Mutation in FLT4 Causes Autosomal Recessive Hereditary Lymphedema.

Lymphat Res Biol 2015 Jun 2;13(2):107-11. Epub 2015 Jun 2.

1 Institute of Human Genetics , Rambam Health Care Campus, Haifa, Israel .

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http://dx.doi.org/10.1089/lrb.2014.0044DOI Listing
June 2015

Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome.

Neurology 2015 May 1;84(21):2177-82. Epub 2015 May 1.

From the Department of Neurology (M.R., D.J.L., M.A.W.), Translational Metabolic Laboratory, Department of Laboratory Medicine (M.R., D.J.L., R.A.W.), Department of Human Genetics, Radboud Institute for Molecular Life Sciences (M.R., E.v.B., T.R., L.E.V., H.v.B.), and Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour (H.v.B.), Radboud University Medical Center, Nijmegen, the Netherlands; Metabolic Unit, Department of Pediatrics (H.M.), and Institute of Human Genetics (R.G.-B.), Rambam Health Care Campus, and the Rappaport Faculty of Medicine, Techion-Israel Institute of Technology, Haifa; Department of Human Genetics (I.G.), Leiden University Medical Center, the Netherlands; Department of Medical Genetics (T.R.), Sydney Children's Hospital, University of New South Wales, Sydney, Australia; Department of Diagnostic Imaging (A.E.), Rambam Health Care Campus, Haifa; and Department of Molecular Genetics (M.G., S.P.), Weizmann Institute of Science, Rehovot, Israel.

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http://dx.doi.org/10.1212/WNL.0000000000001615DOI Listing
May 2015

"I do not want my baby to suffer as I did"; prenatal and preimplantation genetic diagnosis for BRCA1/2 mutations: a case report and genetic counseling considerations.

Genet Test Mol Biomarkers 2014 Jul 10;18(7):461-6. Epub 2014 Jun 10.

1 Department of Nursing, University of Haifa , Haifa, Israel .

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http://dx.doi.org/10.1089/gtmb.2013.0513DOI Listing
July 2014

Kohlschutter-Tonz syndrome: clinical and genetic insights gained from 16 cases deriving from a close-knit village in Northern Israel.

Pediatr Neurol 2014 Apr 7;50(4):421-6. Epub 2014 Jan 7.

Institute of Human Genetics, Rambam Health Care Campus, Haifa, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.01.006DOI Listing
April 2014

A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred.

Eur J Hum Genet 2014 Mar 24;22(3):419-22. Epub 2013 Jul 24.

1] Institute of Human Genetics, Rambam Health Care Campus, Haifa, Israel [2] The Ruth and Bruce Rappaport Faculty of Medicine, Technion Institute of Technology, Haifa, Israel.

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http://dx.doi.org/10.1038/ejhg.2013.157DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925280PMC
March 2014

BRCA1/2 mutations and FMR1 alleles are randomly distributed: a case control study.

Eur J Hum Genet 2014 Feb 27;22(2):277-9. Epub 2013 Nov 27.

1] Institute of Human Genetics, Rambam Health Care Campus, Haifa, Israel [2] The Ruth and Bruce Rappaport Faculty of Medicine, Technion Institute of Technology, Haifa, Israel.

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http://dx.doi.org/10.1038/ejhg.2013.281DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3895656PMC
February 2014

Evidence-based recommendations for the practical management of Familial Mediterranean Fever.

Semin Arthritis Rheum 2013 Dec 3;43(3):387-91. Epub 2013 Jun 3.

Centre national de Référence des maladies Auto-Inflammatoires, CeRéMAI, Centre Hospitalier de Versailles, 177, rue de Versailles, 78150 Le Chesnay Cedex, France. Electronic address:

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http://dx.doi.org/10.1016/j.semarthrit.2013.04.011DOI Listing
December 2013

Essential Tremor Prevalence is Low in the Druze Population in Northern Israel.

Tremor Other Hyperkinet Mov (N Y) 2012 22;2. Epub 2012 Mar 22.

Department of Neurology and the Cognitive Neurology Unit, Rambam Medical Center, Haifa, Israel ; Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3570042PMC
http://dx.doi.org/10.7916/D8GF0S7HDOI Listing
July 2013

Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations.

Eur J Hum Genet 2013 Feb 4;21(2):212-6. Epub 2012 Jul 4.

The Susanne Levy Gertner Oncogenetics Unit, The Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel-Hashomer, Israel.

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http://dx.doi.org/10.1038/ejhg.2012.124DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548269PMC
February 2013

CHARGE syndrome with del(3)(p13p21): expanding the genotype.

Isr Med Assoc J 2012 Feb;14(2):133-4

Department of Medical Genetics, Meyer Children's Hospital, Rambam Health Care Campus, Haifa, Israel.

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February 2012

Vascular behcet and mutations in thrombogenic genes: methylene tetrahydrofolate reductase, factor V, and prothrombin.

Genet Test Mol Biomarkers 2012 Jan 23;16(1):30-5. Epub 2011 Aug 23.

Department of Nursing, University of Haifa, Haifa, Israel.

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http://dx.doi.org/10.1089/gtmb.2011.0096DOI Listing
January 2012

MEFV, TNFRSF1A and CARD15 mutation analysis in Behçet's disease.

Clin Exp Rheumatol 2011 Jul-Aug;29(4 Suppl 67):S24-7. Epub 2011 Sep 27.

Department of Clinical Medicine, University of La Sapienza, Rome, Italy.

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December 2011

Tel Hashomer camptodactyly syndrome in identical twin infants.

Clin Dysmorphol 2011 Oct;20(4):214-6

Rambam Medical Center, Department of Neonatology, Meyer Children's Hospital, Rambam Health Care Campus, Haifa, Israel.

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http://dx.doi.org/10.1097/MCD.0b013e32834a044fDOI Listing
October 2011

'Pure' partial trisomy 11q (11q23.1→11qter): expanding the phenotype.

Clin Dysmorphol 2011 Oct;20(4):225-8

Department of Medical Genetics, Meyer Children's Hospital, Rambam Health Care Campus, and the Rappaport Faculty of Medicine, Technion, Israel Institute of Technology, Haifa, Israel.

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http://dx.doi.org/10.1097/MCD.0b013e328349bcf8DOI Listing
October 2011

Germline mutations in BRCA1 and BRCA2 genes in ethnically diverse high risk families in Israel.

Breast Cancer Res Treat 2011 Jun 20;127(2):489-95. Epub 2010 Oct 20.

The Susanne Levy Gertner Oncogenetics Unit, The Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel-Hashomer, 52621, Israel.

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http://link.springer.com/10.1007/s10549-010-1217-0
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http://dx.doi.org/10.1007/s10549-010-1217-0DOI Listing
June 2011

MEFV, TNF1rA, CARD15 and NLRP3 mutation analysis in PFAPA.

Rheumatol Int 2010 Mar 5;30(5):633-6. Epub 2009 Jul 5.

Institute of Human Genetics, Rambam Health Care Campus, Haifa, Israel.

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http://dx.doi.org/10.1007/s00296-009-1037-xDOI Listing
March 2010

Leukocyte adhesion deficiency type II: long-term follow-up and review of the literature.

J Clin Immunol 2010 Mar 23;30(2):308-13. Epub 2010 Jan 23.

Kipper Institute of Allergy and Immunology, Schneider Children's Medical Center of Israel, Petah Tiqva, Israel.

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http://dx.doi.org/10.1007/s10875-009-9354-0DOI Listing
March 2010

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers.

Authors:
Antonis C Antoniou Olga M Sinilnikova Lesley McGuffog Sue Healey Heli Nevanlinna Tuomas Heikkinen Jacques Simard Amanda B Spurdle Jonathan Beesley Xiaoqing Chen Susan L Neuhausen Yuan C Ding Fergus J Couch Xianshu Wang Zachary Fredericksen Paolo Peterlongo Bernard Peissel Bernardo Bonanni Alessandra Viel Loris Bernard Paolo Radice Csilla I Szabo Lenka Foretova Michal Zikan Kathleen Claes Mark H Greene Phuong L Mai Gad Rennert Flavio Lejbkowicz Irene L Andrulis Hilmi Ozcelik Gord Glendon Anne-Marie Gerdes Mads Thomassen Lone Sunde Maria A Caligo Yael Laitman Tair Kontorovich Shimrit Cohen Bella Kaufman Efrat Dagan Ruth Gershoni Baruch Eitan Friedman Katja Harbst Gisela Barbany-Bustinza Johanna Rantala Hans Ehrencrona Per Karlsson Susan M Domchek Katherine L Nathanson Ana Osorio Ignacio Blanco Adriana Lasa Javier Benítez Ute Hamann Frans B L Hogervorst Matti A Rookus J Margriet Collee Peter Devilee Marjolijn J Ligtenberg Rob B van der Luijt Cora M Aalfs Quinten Waisfisz Juul Wijnen Cornelis E P van Roozendaal Susan Peock Margaret Cook Debra Frost Clare Oliver Radka Platte D Gareth Evans Fiona Lalloo Rosalind Eeles Louise Izatt Rosemarie Davidson Carol Chu Diana Eccles Trevor Cole Shirley Hodgson Andrew K Godwin Dominique Stoppa-Lyonnet Bruno Buecher Mélanie Léoné Brigitte Bressac-de Paillerets Audrey Remenieras Olivier Caron Gilbert M Lenoir Nicolas Sevenet Michel Longy Sandra Fert Ferrer Fabienne Prieur David Goldgar Alexander Miron Esther M John Saundra S Buys Mary B Daly John L Hopper Mary Beth Terry Yosuf Yassin Christian Singer Daphne Gschwantler-Kaulich Christine Staudigl Thomas v O Hansen Rosa Bjork Barkardottir Tomas Kirchhoff Prodipto Pal Kristi Kosarin Kenneth Offit Marion Piedmonte Gustavo C Rodriguez Katie Wakeley John F Boggess Jack Basil Peter E Schwartz Stephanie V Blank Amanda E Toland Marco Montagna Cinzia Casella Evgeny N Imyanitov Anna Allavena Rita K Schmutzler Beatrix Versmold Christoph Engel Alfons Meindl Nina Ditsch Norbert Arnold Dieter Niederacher Helmut Deissler Britta Fiebig Christian Suttner Ines Schönbuchner Dorothea Gadzicki Trinidad Caldes Miguel de la Hoya Karen A Pooley Douglas F Easton Georgia Chenevix-Trench

Hum Mol Genet 2009 Nov 5;18(22):4442-56. Epub 2009 Aug 5.

Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit, University of Cambridge, Cambridge, UK.

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http://dx.doi.org/10.1093/hmg/ddp372DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2782243PMC
November 2009

Anophthalmia-plus syndrome: a clinical report and review of the literature.

Am J Med Genet A 2007 Jan;143A(1):64-8

Department of Neonatology, Meyer Children's Hospital, Rambam Health Care Campus, and the Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.

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http://dx.doi.org/10.1002/ajmg.a.31566DOI Listing
January 2007

Henoch-Schonlein purpura: polymorphisms in thrombophilia genes.

Pediatr Nephrol 2006 Aug 22;21(8):1117-21. Epub 2006 Jun 22.

Department of Human Genetics, Rambam Medical Center and Department of Nursing, Faculty of Welfare and Social Studies, University of Haifa, Haifa, Israel.

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http://dx.doi.org/10.1007/s00467-006-0155-xDOI Listing
August 2006

Accessory male pseudogenitalia?

J Pediatr 2006 Aug;149(2):278

Meyer Children's Hospital and Rambam Medical Center, Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.

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http://dx.doi.org/10.1016/j.jpeds.2006.02.040DOI Listing
August 2006

A specific RAD51 haplotype increases breast cancer risk in Jewish non-Ashkenazi high-risk women.

Eur J Cancer 2006 May 18;42(8):1129-34. Epub 2006 Apr 18.

The Susanne Levy Gertner Oncogenetics Unit, The Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel-Hashomer 52621, Israel.

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http://dx.doi.org/10.1016/j.ejca.2005.09.035DOI Listing
May 2006

Myeloid dysplasia in familial 3-methylglutaconic aciduria.

J Pediatr Hematol Oncol 2006 Feb;28(2):69-72

Department of Pediatric Hemato-Oncology, Meyer Children's Hospital, Rambam Medical Center, Haifa, Israel.

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http://dx.doi.org/10.1097/01.mph.0000199585.98926.55DOI Listing
February 2006

Expression of cell cycle regulatory proteins in ovaries prophylactically removed from Jewish Ashkenazi BRCA1 and BRCA2 mutation carriers: correlation with histopathology.

Gynecol Oncol 2005 Nov 26;99(2):367-75. Epub 2005 Jul 26.

Department of Obstetrics and Gynecology, Rabin Medical Center, Beilinson Campus, Petah Tiqva 49100, Israel.

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http://linkinghub.elsevier.com/retrieve/pii/S009082580500454
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http://dx.doi.org/10.1016/j.ygyno.2005.06.041DOI Listing
November 2005

Mutations in the glucocerebrosidase gene and Parkinson disease: phenotype-genotype correlation.

Neurology 2005 Nov 7;65(9):1460-1. Epub 2005 Sep 7.

Department of Neurology, Rambam Medical Center, Haifa, Israel.

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http://www.neurology.org/lookup/doi/10.1212/01.wnl.000017698
Publisher Site
http://dx.doi.org/10.1212/01.wnl.0000176987.47875.28DOI Listing
November 2005

Autosomal recessive Oliver-McFarlane syndrome: retinitis pigmentosa, short stature (GH deficiency), trichomegaly, and hair anomalies or CPD syndrome (chorioretinopathy-pituitary dysfunction).

Am J Med Genet A 2005 Oct;138A(3):268-71

Department of Human Genetics, Rambam Medical Center, Technion-Israel Institute of Technology, Haifa, Israel.

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http://doi.wiley.com/10.1002/ajmg.a.30953
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http://dx.doi.org/10.1002/ajmg.a.30953DOI Listing
October 2005

Mutations in CYP11B1 and congenital adrenal hyperplasia in Moroccan Jews.

J Clin Endocrinol Metab 2005 Sep 19;90(9):5463-5. Epub 2005 Jul 19.

Genetics Institute and Division of Endocrinology, Meyer Children's Hospital, P.O.B. 9602, Haifa 31096, Israel.

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http://dx.doi.org/10.1210/jc.2005-1145DOI Listing
September 2005

Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.

N Engl J Med 2004 Nov;351(19):1972-7

Department of Neurology and the Cognitive Neurology Unit, Rambam Medical Center, Haifa, Israel.

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http://www.neurology.org/content/65/9/1460.full.pdf
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http://www.nejm.org/doi/abs/10.1056/NEJMoa033277
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http://dx.doi.org/10.1056/NEJMoa033277DOI Listing
November 2004

The 1100delAT BRCA1 and the 8765delAG BRCA2 mutations: occurrence in high-risk non-Ashkenazi Jews and haplotype comparison of Jewish and non-Jewish carriers.

Fam Cancer 2004 ;3(1):11-4

Susanne Levy Gertner Oncogenetics Unit, the Danek Gertner Institute of Genetics, Chaim Sheba Medical Center, Tel-Hashomer, Israel.

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http://dx.doi.org/10.1023/B:FAME.0000026837.32470.b4DOI Listing
July 2004

Smoking and the risk of breast cancer among carriers of BRCA mutations.

Int J Cancer 2004 Jun;110(3):413-6

Epidemiology Research Unit, Centre Hospitalier del'Universite de Montreal Hotel-Dieu, Faculty of Medicine, Université de Montreal, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1002/ijc.20106DOI Listing
June 2004

Permanent neonatal diabetes.

Isr Med Assoc J 2004 May;6(5):290-1

Pediatric Diabetes Unit, Meyers Children's Hospital of Haifa, Haifa, Israel.

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May 2004

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

Prevalence and significance of mutations in the familial Mediterranean fever gene in Henoch-Schönlein purpura.

J Pediatr 2003 Nov;143(5):658-61

Department of Human Genetics, Rambam Medical Center, and the Bruce Rappoport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.

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http://dx.doi.org/10.1067/S0022-3476(03)00502-XDOI Listing
November 2003

Infantile familial Mediterranean fever.

Isr Med Assoc J 2003 Oct;5(10):746-7

Department of Pediatrics, Institue of Human Genetics, Meyer Children's Hospital, Rambam Medical Center, Technion Faculty of Medicine, Haifa, Israel.

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October 2003

Pulmonary manifestations and function tests in children genetically diagnosed with FMF.

Pediatr Pulmonol 2003 Jun;35(6):452-5

Department of Pediatrics, Rambam Medical Center, and Faculty of Medicine, Institute of Technology, Technion-Israel, Haifa, Israel.

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http://dx.doi.org/10.1002/ppul.10270DOI Listing
June 2003

Cisplatin treatment triggers familial Mediterranean fever attacks.

Tumori 2003 Jan-Feb;89(1):80-1

Clinical Immunology, Bnai Zion Medical Center, Haifa, Israel.

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May 2003

Pulmonary presentation of esophageal leiomyomatosis associated with Alport syndrome in childhood.

Isr Med Assoc J 2003 Apr;5(4):293-4

Department of Neonatology, Bnai-Zion Medical Center, Haifa, Israel.

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April 2003

Insulin-like growth factor I polymorphism and breast cancer risk in Jewish women.

Isr Med Assoc J 2002 Oct;4(10):759-62

Oncology Institute, Sourasky Tel Aviv Medical Center, Tel Aviv, Israel.

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October 2002

Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlation.

Am J Med Genet 2002 Jun;110(2):131-5

Department of Pediatrics and Immunology, Rambam Med Ctr, B. Rapapport School of Medicine, Technion, Haifa, Israel.

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http://dx.doi.org/10.1002/ajmg.10423DOI Listing
June 2002

The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever.

Eur J Hum Genet 2002 Feb;10(2):145-9

Institute of Human Genetics, Rambam Medical Center, Haifa, Israel.

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http://dx.doi.org/10.1038/sj.ejhg.5200776DOI Listing
February 2002