Works by Gershoni-Baruch, Ruth

Results: 44

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

Published in:

Dementia & Geriatric Cognitive Disorders, 2016, v. 42, n. 1/2, p. 1, doi. 10.1159/000447450

By:

Dagan, Efrat;
Schlesinger, Ilana;
Kurolap, alina;
ayoub, Mareemar;
Nassar, Maria;
Peretz-aharon, Judith;
Gershoni-Baruch, Ruth

Publication type:

Article

Androgen receptor CAG repeat length in Jewish Israeli women who are BRCA1/2 mutation carriers: association with breast/ovarian cancer phenotype.

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 11, p. 724, doi. 10.1038/sj.ejhg.5200880

By:

Dagan, Efrat;
Friedman, Eitan;
Paperna, Tamar;
Carmi, Nirit;
Gershoni-Baruch, Ruth

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2002, v. 10, n. 2, p. 145, doi. 10.1038/sj.ejhg.5200776

By:

Gershoni-Baruch, Ruth;
Brik, Riva;
Shinawi, Marwan;
Livneh, Avi

Publication type:

Article

Familial Mediterranean fever: prevalence, penetrance and genetic drift.

Published in:

European Journal of Human Genetics, 2001, v. 9, n. 8, p. 634, doi. 10.1038/sj.ejhg.5200672

By:

Gershoni-Baruch, Ruth;
Shinawi, Marwan;
Leah, Kasinetz;
Badarnah, Khader;
Brik, Riva

Publication type:

Article

BRCA1 and BRCA2 founder mutations in patients with bilateral breast cancer.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 7, p. 833, doi. 10.1038/sj.ejhg.5200371

By:

Gershoni-Baruch, Ruth;
Dagan, Efrat;
Fried, Getta;
Kepten, Ilana;
Robinson, Eliezer

Publication type:

Article

Common origin of the I1307K APC polymorphism in Ashkenazi and non-Ashkenazi Jews.

Published in:

European Journal of Human Genetics, 1999, v. 7, n. 5, p. 555, doi. 10.1038/sj.ejhg.5200325

By:

Patael, Yael;
Figer, Arie;
Gershoni-Baruch, Ruth;
Papa, Moshe Z;
Risel, Shulamit;
Shtoyerman-Chen, Rakefet;
Karasik, Avraham;
Theodor, Livia;
Friedman, Eitan

Publication type:

Article

Corrigendum: Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).

Published in:

2006

By:

Zenker, Martin;
Mayerle, Julia;
Lerch, Markus M;
Tagariello, Andreas;
Zerres, Klaus;
Durie, Peter R;
Beier, Matthias;
Hülskamp, Georg;
Guzman, Celina;
Rehder, Helga;
Beemer, Frits A;
Hamel, Ben;
Vanlieferinghen, Philippe;
Gershoni-Baruch, Ruth;
Vieira, Marta W;
Dumic, Miroslav;
Auslender, Ron;
Gil-da-Silva-Lopes, Vera L;
Steinlicht, Simone;
Rauh, Manfred

Publication type:

Correction Notice

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).

Published in:

Nature Genetics, 2005, v. 37, n. 12, p. 1345, doi. 10.1038/ng1681

By:

Zenker, Martin;
Mayerle, Julia;
Lerch, Markus M.;
Tagariello, Andreas;
Zerres, Klaus;
Durie, Peter R.;
Beier, Matthias;
Hülskamp, Georg;
Guzman, Celina;
Rehder, Helga;
Beemer, Frits A.;
Hamel, Ben;
Vanlieferinghen, Philippe;
Gershoni-Baruch, Ruth;
Vieira, Marta W.;
Dumic, Miroslav;
Auslender, Ron;
Gil-da-Silva-Lopes, Vera L.;
Steinlicht, Simone;
Rauh, Manfred

Publication type:

Article

Mutations in the gene encoding the latency-associated peptide of TGF-β1 cause Camurati-Engelmann disease.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 273, doi. 10.1038/81563

By:

Janssens, Katrien;
Gershoni-Baruch, Ruth;
Guañabens, Nuria;
Migone, Nicola;
Ralston, Stuart;
Bonduelle, Maryse;
Lissens, Willy;
Van Maldergem, Lionel;
Vanhoenacker, Filip;
Verbruggen, Leon;
Van Hul, Wim

Publication type:

Article

Mutations in CYP11B1 and Congenital Adrenal Hyperplasia in Moroccan Jews.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 9, p. 5463, doi. 10.1210/jc.2005-1145

By:

Paperna, Tamar;
Gershoni-Baruch, Ruth;
Badarneh, Kader;
Kasinetz, Leah;
Hochberg, Ze’ev

Publication type:

Article

Charge Syndrome with del(3)(p13p21): Expanding the Genotype.

Published in:

Israel Medical Association Journal, 2012, v. 14, n. 2, p. 133

By:

Moustafa-Hawash, Nivin;
Smolkin, Tatiana;
Ilivitzki, Anat;
Zimberg-Bossira, Avishag;
Gildish, Anna;
Gershoni-Baruch, Ruth;
Makhoul, Imad R.

Publication type:

Article

The Hypothyroidism in an Inbred Kindred with Congenital Thyroid Hormone and Glucocorticoid Deficiency is Due to a Mutation Producing a Truncated Thyrotropin Receptor.

Published in:

Thyroid, 1999, v. 9, n. 9, p. 887, doi. 10.1089/thy.1999.9.887

By:

TIOSANO, DOV;
PANNAIN, SILVANA;
VASSART, GILBERT;
PARMA, JASMINE;
GERSHONI-BARUCH, RUTH;
MANDEL, HANNA;
LOTAN, RACHEL;
ZAHARAN, YUNES;
PERY, MENUHA;
WEISS, ROY E.;
REFETOFF, SAMUEL;
HOCHBERG, ZE'EV

Publication type:

Article

Previously Apparently Undescribed Autosomal-Recessive Multiple Congenital Anomalies/ Mental Retardation (MCA/MR) Syndrome Comprising: Fronto-Nasal Dysplasia, Hypertelorism, Short Stature and Brachydactily.

Published in:

Current Pediatric Reviews, 2007, v. 3, n. 4, p. 328, doi. 10.2174/157339607782411484

By:

Haimi, Motti;
Gershoni-Baruch, Ruth

Publication type:

Article

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

Published in:

Rheumatology International, 2010, v. 30, n. 5, p. 633, doi. 10.1007/s00296-009-1037-x

By:

Dagan, Efrat;
Gershoni-Baruch, Ruth;
Khatib, Ihab;
Mori, Adi;
Brik, Riva

Publication type:

Article

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.

Published in:

Fetal Diagnosis & Therapy, 2014, v. 36, n. 3, p. 242, doi. 10.1159/000360420

By:

Michaelson-Cohen, Rachel;
Gershoni-Baruch, Ruth;
Sharoni, Reuven;
Shochat, Mordechai;
Yaron, Yuval;
Singer, amihood

Publication type:

Article

A case of Ververi‐Brady syndrome due to QRICH1 loss of function and the literature review.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 6, p. 1913, doi. 10.1002/ajmg.a.62184

By:

Baruch, Yoav;
Horn‐Saban, Shirley;
Plotsky, Yoram;
Bercovich, Dani;
Gershoni‐Baruch, Ruth

Publication type:

Article

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.

Published in:

2016

By:

Byrne, Susan;
Jansen, Lara;
U-King-Im, Jean-Marie;
Siddiqui, Ata;
Lidov, Hart G. W.;
Bodi, Istvan;
Smith, Luke;
Mein, Rachael;
Cullup, Thomas;
Dionisi-Vici, Carlo;
Al-Gazali, Lihadh;
Al-Owain, Mohammed;
Bruwer, Zandre;
Al Thihli, Khalid;
El-Garhy, Rana;
Flanigan, Kevin M.;
Manickam, Kandamurugu;
Zmuda, Erik;
Banks, Wesley;
Gershoni-Baruch, Ruth

Publication type:

journal article

Ovarian dysplasia in prophylactic oophorectomy specimens.

Published in:

Cancer (0008543X), 1999, v. 86, n. 8, p. 1544, doi. 10.1002/(SICI)1097-0142(19991015)86:8<1544::AID-CNCR22>3.0.CO;2-I

By:

Deligdisch, Liane;
Gil, Joan;
Kerner, Hedviga;
Wu, Hai Shan;
Beck, Dan;
Gershoni-Baruch, Ruth

Publication type:

Article

Anamnestic Response to Hepatitis B Vaccine in Nonalcoholic Liver Cirrhosis Patients with and without HBV-DNA.

Published in:

American Journal of Gastroenterology (Springer Nature), 1992, v. 87, n. 5, p. 613

By:

Baruch, Yaacov;
Enat, Rafael;
Gershoni-Baruch, Ruth;
Rimon, Nurit;
Ben-Porath, Edna

Publication type:

Article

Oral Contraceptives and the Risk of Breast Cancer in BRCA1 and BRCA2 Mutation Carriers.

Published in:

JNCI: Journal of the National Cancer Institute, 2002, v. 94, n. 23, p. 1773, doi. 10.1093/jnci/94.23.1773

By:

Narod, Steven A.;
Dube, Marie-Pierre;
Klijn, Jan;
Lubinski, Jan;
Lynch, Henry T.;
Ghadirian, Parviz;
Provencher, Diane;
Heimdal, Ketil;
Moller, Pal;
Robson, Mark;
Offit, Kenneth;
Isaacs, Claudine;
Weber, Barbara;
Friedman, Eitan;
Gershoni-Baruch, Ruth;
Rennert, Gad;
Pasini, Barbara;
Wagner, Theresa;
Daly, Mary

Publication type:

Article

The 185delAG BRCA1 mutation originated before the dispersion of Jews in the Diaspora and is not limited to Ashkenazim.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 5, p. 801

By:

Bar‐Sade, Revital Bruchim;
Kruglikova, Anna;
Modan, Baruch;
Gak, Eva;
Hirsh‐Yechezkel, Galit;
Theodor, Livia;
Novikov, Ilya;
Gershoni‐Baruch, Ruth;
Risel, Shulamit;
Papa, Moshe Z.;
Ben‐Baruch, Gilad;
Friedman, Eitan

Publication type:

Article

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

Published in:

Pediatric Pulmonology, 2003, v. 35, n. 6, p. 452, doi. 10.1002/ppul.10270

By:

Riva Brik;
Ruth Gershoni-Baruch;
Marwan Shinawi;
Larissa Barak;
Lea Bentur

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 3, p. 419, doi. 10.1038/ejhg.2013.157

By:

Mory, Adi;
Ruiz, Francesc X;
Dagan, Efrat;
Yakovtseva, Evgenia A;
Kurolap, Alina;
Parés, Xavier;
Farrés, Jaume;
Gershoni-Baruch, Ruth

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 2, p. 277, doi. 10.1038/ejhg.2013.281

By:

Dagan, Efrat;
Cohen, Yoram;
Mory, Adi;
Adir, Vardit;
Borochowitz, Zvi;
Raanani, Hila;
Kurolap, Alina;
Melikhan-Revzin, Svetlana;
Meirow, Dror;
Gershoni-Baruch, Ruth

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2014, v. 22, n. 2, p. 295, doi. 10.1038/ejhg.2013.294

By:

Dagan, Efrat;
Cohen, Yoram;
Mory, Adi;
Adir, Vardit;
Borochowitz, Zvi;
Raanani, Hila;
Kurolap, Alina;
Melikhan-Revzin, Svetlana;
Meirow, Dror;
Gershoni-Baruch, Ruth

Publication type:

Article

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

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 2, p. 212, doi. 10.1038/ejhg.2012.124

By:

Laitman, Yael;
Feng, Bing-Jian;
Zamir, Itay M;
Weitzel, Jeffrey N;
Duncan, Paul;
Port, Danielle;
Thirthagiri, Eswary;
Teo, Soo-Hwang;
Evans, Gareth;
Latif, Ayse;
Newman, William G;
Gershoni-Baruch, Ruth;
Zidan, Jamal;
Shimon-Paluch, Shani;
Goldgar, David;
Friedman, Eitan

Publication type:

Article

Bone Marrow Biopsy in Patients with Malignant Neoplasms Other than Lymphomas or Leukemia.

Published in:

Acta Haematologica, 1979, v. 62, n. 4, p. 181, doi. 10.1159/000207569

By:

Cohen, Yoram;
Gershoni-Baruch, Ruth;
Lichtic, Chaim

Publication type:

Article

Congenital Diabetes in an Infant with Trisomy 21.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 1998, v. 11, n. 4, p. 575, doi. 10.1515/jpem.1998.11.4.575

By:

Shehadeh, Nairn;
Gershoni-Baruch, Ruth;
Etzioni, Amos

Publication type:

Article

Molecular Epidemiology of Hereditary Epidermolysis Bullosa in a Middle Eastern Population.

Published in:

Journal of Investigative Dermatology, 2006, v. 126, n. 4, p. 777, doi. 10.1038/sj.jid.5700163

By:

Abu Sa'd, Judeh;
Indelman, Margarita;
Pfendner, Ellen;
Falik-Zaccai, Tzipora C.;
Mizrachi-Koren, Mordechai;
Shalev, Stavit;
Amitai, Dani Ben;
Raas-Rothshild, Annick;
Adir-Shani, Ayelet;
Borochowitz, Zvi-Uri;
Gershoni-Baruch, Ruth;
Khayat, Morad;
Landau, Daniela;
Richard, Gabriele;
Bergman, Reuven;
Uitto, Jouni;
Kanaan, Moien;
Sprecher, Eli

Publication type:

Article

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

Published in:

Breast Cancer Research & Treatment, 2011, v. 127, n. 2, p. 489, doi. 10.1007/s10549-010-1217-0

By:

Laitman, Yael;
Borsthein, Roni;
Stoppa-Lyonnet, Dominique;
Dagan, Efrat;
Castera, Laurent;
Goislard, Maud;
Gershoni-Baruch, Ruth;
Goldberg, Hadassah;
Kaufman, Bella;
Ben-Baruch, Noa;
Zidan, Jamal;
Maray, Taiseer;
Soussan-Gutman, Lior;
Friedman, Eitan

Publication type:

Article

Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers.

Published in:

Breast Cancer Research & Treatment, 2007, v. 105, n. 2, p. 221

By:

Jan Lubinski;
Henry Lynch;
Jan Klijn;
Susan Neuhausen;
Charmaine Kim-Sing;
William Foulkes;
Pal Moller;
Claudine Isaacs;
Susan Domchek;
Susan Randall;
Kenneth Offit;
Nadine Tung;
Peter Ainsworth;
Ruth Gershoni-Baruch;
Andrea Eisen;
Mary Daly;
Beth Karlan;
Howard Saal;
Fergus Couch;
Barbara Pasini

Publication type:

Article

Henoch–Schonlein purpura: polymorphisms in thrombophilia genes.

Published in:

Pediatric Nephrology, 2006, v. 21, n. 8, p. 1117, doi. 10.1007/s00467-006-0155-x

By:

Dagan, Efrat;
Brik, Riva;
Broza, Yiphtah;
Gershoni-Baruch, Ruth

Publication type:

Article

The 471delAAAG Mutation and C353T Polymorphism in the RNASEL Gene in Sporadic and Inherited Cancer in Israel.

Published in:

Familial Cancer, 2006, v. 5, n. 4, p. 389, doi. 10.1007/s10689-006-0010-z

By:

Dagan, Efrat;
Laitman, Yael;
Levanon, Nurit;
Feuer, Avner;
Sidi, Ami;
Baniel, Jack;
Korach, Yaacov;
Baruch, Gilad;
Friedman, Eitan;
Gershoni-Baruch, Ruth

Publication type:

Article

The Tyr978X BRCA1 mutation: occurrence in non-Jewish Iranians and haplotype in French-Canadian and non-Ashkenazi Jews.

Published in:

Familial Cancer, 2005, v. 4, n. 2, p. 85, doi. 10.1007/s10689-004-2101-z

By:

Lluís Quintana-Murci;
Inbar Gal;
Tangiz Bakhan;
Hélène Quach;
S Hamid Sayar;
Ronit Shiri-Sverdlov;
Ruth Gershoni Baruch;
Ken McElreavey;
Efrat Dagan;
Steven Narod;
Eitan Friedman

Publication type:

Article

The 1100delAT BRCA1 and the 8765delAG BRCA2 Mutations: Occurrence in High-Risk Non-Ashkenazi Jews and Haplotype Comparison of Jewish and Non-Jewish Carriers.

Published in:

Familial Cancer, 2004, v. 3, n. 1, p. 11

By:

Inbar Gal;
Ruth Gershoni Baruch;
Daniel Haber;
Efrat Dagan;
Shlomit Eisenberg-Barzilai;
Jamal Zidan

Publication type:

Article

Salpingo-oophorectomy and the Risk of Ovarian, Fallopian Tube, and Peritoneal Cancers in Women With a BRCA1 or BRCA2 Mutation.

Published in:

JAMA: Journal of the American Medical Association, 2006, v. 296, n. 2, p. 185, doi. 10.1001/jama.296.2.185

By:

Finch, Amy;
Beiner, Mario;
Lubinski, Jan;
Lynch, Henry T.;
Moller, Pal;
Rosen, Barry;
Murphy, Joan;
Ghadirian, Parviz;
Friedman, Eitan;
Foulkes, William D.;
Kim-Sing, Charmaine;
Wagner, Teresa;
Tung, Nadine;
Couch, Fergus;
Stoppa-Lyonnet, Dominique;
Ainsworth, Peter;
Daly, Mary;
Pasini, Barbara;
Gershoni-Baruch, Ruth;
Eng, Charis

Publication type:

Article

1647-P: Rare Disruptive Loss of Function Mutations in the Cluster of Differentiation 36 (CD36) Gene Overwhelmingly Cause a Metabolic Syndrome in Multiple Members of an Inbred Pedigree from One Village in Northern Israel.

Published in:

Diabetes, 2020, v. 69, p. N.PAG, doi. 10.2337/db20-1647-P

By:

LEVIN, NEHAMA ZUCKERMAN;
BERCOVICH, DANI;
PASTERNAK, IDIT;
GERSHONI-BARUCH, RUTH;
SHEHADEH, NAIM

Publication type:

Article

Leukocyte Adhesion Deficiency Type II: Long-Term Follow-Up and Review of the Literature.

Published in:

Journal of Clinical Immunology, 2010, v. 30, n. 2, p. 308, doi. 10.1007/s10875-009-9354-0

By:

Gazit, Yael;
Mory, Adi;
Etzioni, Amos;
Frydman, Moshe;
Scheuerman, Oded;
Gershoni-Baruch, Ruth;
Garty, Ben-Zion

Publication type:

Article

Age at menarche and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers.

Published in:

Cancer Causes & Control, 2005, v. 16, n. 6, p. 667, doi. 10.1007/s10552-005-1724-1

By:

Joanne Kotsopoulos;
Jan Lubinski;
Henry T. Lynch;
Susan L. Neuhausen;
Parviz Ghadirian;
Claudine Isaacs;
Barbara Weber;
Charmaine Kim-Sing;
William D. Foulkes;
Ruth Gershoni-Baruch;
Peter Ainsworth;
Eitan Friedman;
Mary Daly;
Judy E. Garber;
Beth Karlan;
Olufunmilayo I. Olopade;
Nadine Tung;
Howard M. Saal;
Andrea Eisen;
Michael Osborne

Publication type:

Article

Direct detection of common mutations in the familial Mediterranean fever gene (MEFV) using naturally occurring and primer mediated restriction fragment analysis.

Published in:

Human Mutation, 1999, v. 14, n. 1, p. 91, doi. 10.1002/(SICI)1098-1004(1999)14:1<91::AID-HUMU22>3.0.CO;2-8

By:

Gershoni-Baruch, Ruth;
Kepten, Ilana;
Shinawi, Marwan;
Brik, Riva

Publication type:

Article

Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups.

Published in:

Human Mutation, 1998, v. 11, n. 2, p. 145, doi. 10.1002/(SICI)1098-1004(1998)11:2<145::AID-HUMU7>3.0.CO;2-I

By:

Kalinsky, Hagar;
Funes, Adina;
Zeldin, Alina;
Pel-Or, Yehuda;
Korostishevsky, Misha;
Gershoni-Baruch, Ruth;
Farrer, Lindsay A.;
Bonne-Tamir, Batsheva

Publication type:

Article

Effect of pregnancy as a risk factor for breast cancer in BRCA1/ BRCA2 mutation carriers.

Published in:

International Journal of Cancer, 2005, v. 117, n. 6, p. 988, doi. 10.1002/ijc.21273

By:

Cullinane, Carey A.;
Lubinski, Jan;
Neuhausen, Susan L.;
Ghadirian, Parviz;
Lynch, Henry T.;
Isaacs, Claudine;
Weber, Barbara;
Moller, Pal;
Offit, Kenneth;
Kim-Sing, Charmaine;
Friedman, Eitan;
Randall, Susan;
Pasini, Barbara;
Ainsworth, Peter;
Gershoni-Baruch, Ruth;
Foulkes, William D.;
Klijn, Jan;
Tung, Nadine;
Rennert, Gad;
Olopade, Olufunmilayo

Publication type:

Article

CHEK2*1100delC and male breast cancer risk in Israel.

Published in:

International Journal of Cancer, 2004, v. 108, n. 3, p. 479, doi. 10.1002/ijc.11603

By:

Tal Ohayon;
Inbar Gal;
Ruth Gershoni Baruch;
Csilla Szabo

Publication type:

Article

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

Published in:

G3: Genes | Genomes | Genetics, 2016, v. 6, n. 5, p. 1251, doi. 10.1534/g3.115.026773

By:

Tiosano, Dov;
Audi, Laura;
Climer, Sharlee;
Weixiong Zhang;
Templeton, Alan R.;
Fernández-Cancio, Monica;
Gershoni-Baruch, Ruth;
Sánchez-Muro, José Miguel;
El Kholy, Mohamed;
Hochberg, Zèev

Publication type:

Article