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Ruth Gershoni-Baruch

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Physiology

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Israel

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DNA Mutational Analysis

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Yael Laitman; Ayse Latif; William G Newman; Danielle Port; Shani Shimon-Paluch; Soo-Hwang Teo; Eswary Thirthagiri; Jeffrey N Weitzel; Itay M Zamir; Jamal Zidan; Paul Duncan; Gareth Evans; Bing-Jian Feng; Ruth Gershoni-Baruch; David Goldgar; Eitan Friedman
Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations.
Adi Mory; Sveva Romani; Ishai Shahor; Enza M Valente; Serge Amselem; Efrat Dagan; Philippe Duquesnoy; Nivin Hawash-Moustafa; Barbara Illi; Hanna Mandel; Shikma Mordechai; Ruth Gershoni-Baruch
A nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndrome.
Nivin Moustafa-Hawash; Tatiana Smolkin; Avishag Zimberg-Bossira; Ruth Gershoni-Baruch; Anna Gildish; Anat Ilivitzki; Imad R Makhoul
CHARGE syndrome with del(3)(p13p21): expanding the genotype.

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All Publications

2013: Yael Laitman; Ayse Latif; William G Newman; Danielle Port; Shani Shimon-Paluch; Soo-Hwang Teo; Eswary Thirthagiri; Jeffrey N Weitzel; Itay M Zamir; Jamal Zidan; Paul Duncan; Gareth Evans; Bing-Jian Feng; Ruth Gershoni-Baruch; David Goldgar; Eitan Friedman
Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations.
European journal of human genetics : EJHG 2013;21(2):212-6.
2012: Adi Mory; Sveva Romani; Ishai Shahor; Enza M Valente; Serge Amselem; Efrat Dagan; Philippe Duquesnoy; Nivin Hawash-Moustafa; Barbara Illi; Hanna Mandel; Shikma Mordechai; Ruth Gershoni-Baruch
A nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndrome.
American journal of human genetics 2012;90(4):708-14.
2012: Nivin Moustafa-Hawash; Tatiana Smolkin; Avishag Zimberg-Bossira; Ruth Gershoni-Baruch; Anna Gildish; Anat Ilivitzki; Imad R Makhoul
CHARGE syndrome with del(3)(p13p21): expanding the genotype.
The Israel Medical Association journal : IMAJ 2012;14(2):133-4.
2012: Judith Aharon-Peretz; Samih Badarny; Ruth Gershoni-Baruch; Raphiq Ibrahim; Gamal Hassoun
Essential Tremor Prevalence is Low in the Druze Population in Northern Israel.
Tremor and other hyperkinetic movements (New York, N.Y.) 2012;2():.
2012: Efrat Dagan; Massimo Fiorilli; Itzhak Rosner; Michael Rozenbaum; Yoav Baruch; Ruth Gershoni-Baruch
Vascular behcet and mutations in thrombogenic genes: methylene tetrahydrofolate reductase, factor V, and prothrombin.
Genetic testing and molecular biomarkers 2012;16(1):30-5.
2011: Avishag Zimberg-Bossira; Nivin Moustafa-Hawash; Tatiana Smolkin; Shraga Blazer; Ruth Gershoni-Baruch; Anna Gildish; Imad R Makhoul
'Pure' partial trisomy 11q (11q23.1→11qter): expanding the phenotype.
Clinical dysmorphology 2011;20(4):225-8.
2011: Tatiana Smolkin; Shraga Blazer; Ruth Gershoni-Baruch; Imad R Makhoul
Tel Hashomer camptodactyly syndrome in identical twin infants.
Clinical dysmorphology 2011;20(4):214-6.
2011: Yoav Baruch; Efrat Dagan; Massimo Fiorilli; Ruth Gershoni-Baruch; Itzhak Rosner; Michael Rozenbaum
MEFV, TNFRSF1A and CARD15 mutation analysis in Behçet's disease.
Clinical and experimental rheumatology 2011;29(4 Suppl 67):S24-7.
2011: Yael Laitman; Roni Tsipora Borsthein; Dominique Stoppa-Lyonnet; Efrat Dagan; Laurent Castera; Maud Goislard; Ruth Gershoni-Baruch; Hadassah Goldberg; Bella Kaufman; Noa Ben-Baruch; Jamal Zidan; Taiseer Maray; Lior Soussan-Gutman; Eitan Friedman
Germline mutations in BRCA1 and BRCA2 genes in ethnically diverse high risk families in Israel.
Breast cancer research and treatment 2011;127(2):489-95.
2010: Yael Gazit; Adi Mory; Amos Etzioni; Moshe Frydman; Oded Scheuerman; Ruth Gershoni-Baruch; Ben-Zion Garty
Leukocyte adhesion deficiency type II: long-term follow-up and review of the literature.
Journal of clinical immunology 2010;30(2):308-13.
2010: Efrat Dagan; Ruth Gershoni-Baruch; Ihab Khatib; Adi Mori; Riva Brik
MEFV, TNF1rA, CARD15 and NLRP3 mutation analysis in PFAPA.
Rheumatology international 2010;30(5):633-6.
2010: Tzipora C Falik-Zaccai; Morad Khayat; Anthony Luder; Pnina Frenkel; Daniella Magen; Riva Brik; Ruth Gershoni-Baruch; Hanna Mandel
A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010;153B(1):46-56.
2009: Orit Reish; Zvi U Borochowitz; Vardit Adir; Mordechai Shohat; Mazal Karpati; Atalia Shtorch; Avi Orr-Urtreger; Yuval Yaron; Stavit Shalev; Fuad Fares; Ruth Gershoni-Baruch; Tzipora C Falik-Zaccai; Daphne Chapman-Shimshoni
Dynamic modification strategy of the Israeli carrier screening protocol: inclusion of the Oriental Jewish Group to the cystic fibrosis panel.
Genetics in medicine : official journal of the American College of Medical Genetics 2009;11(2):101-3.
2008: Adi Mory; Sara W Feigelson; Nese Yarali; Sara S Kilic; Gulsum I Bayhan; Ruth Gershoni-Baruch; Amos Etzioni; Ronen Alon
Kindlin-3: a new gene involved in the pathogenesis of LAD-III.
Blood 2008;112(6):2591.
2008: Daniella Magen; Costa Georgopoulos; Peter Bross; Debbie Ang; Yardena Segev; Dorit Goldsher; Alexandra Nemirovski; Eli Shahar; Sarit Ravid; Anthony Luder; Bayan Heno; Ruth Gershoni-Baruch; Karl Skorecki; Hanna Mandel
Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.
American journal of human genetics 2008;83(1):30-42.
2008: Efrat Dagan; Sharon Gil; Ruth Gershoni-Baruch
Socio-demographic and clinical profile of BRCA1/2 mutation carriers opting for prophylactic oophorectomy.
Preventive medicine 2008;46(5):470-2.
2008: Hanna Mandel; Revital Shemer; Zvi U Borochowitz; Marina Okopnik; Carlos Knopf; Margarita Indelman; Arie Drugan; Dov Tiosano; Ruth Gershoni-Baruch; Mordechai Choder; Eli Sprecher
SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4.
American journal of human genetics 2008;82(1):39-47.
2007: Isabelle Touitou; Tamara Sarkisian; Myrna Medlej-Hashim; Mehmet Tunca; Avi Livneh; Daniel Cattan; Fatos Yalçinkaya; Seza Ozen; Hassan Majeed; Huri Ozdogan; Daniel Kastner; David Booth; Eldad Ben-Chetrit; Denis Pugnère; Cécile Michelon; Fabienne Séguret; Ruth Gershoni-Baruch
Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever.
Arthritis and rheumatism 2007;56(5):1706-12.
2007: Motti Haimi; Ronit Elhasid; Nivin Moustafa; Ruth Gershoni-Baruch
Aberration of 3q and monosomy 7 in a child with acute myelogenous leukemia.
Cancer genetics and cytogenetics 2007;174(1):78-81.
2007: Imad R Makhoul; Michalle Soudack; Orna Kochavi; Joseph N Guilburd; Shimon Maimon; Ruth Gershoni-Baruch
Anophthalmia-plus syndrome: a clinical report and review of the literature.
American journal of medical genetics. Part A 2007;143(1):64-8.
2006: Imad R Makhoul; Gideon Shoshany; Ruth Gershoni-Baruch; Benjamin Hardak; Diana Gaitini
Accessory male pseudogenitalia?
The Journal of pediatrics 2006;149(2):278.
2006: Efrat Dagan; Riva Brik; Yiphtah Broza; Ruth Gershoni-Baruch
Henoch-Schonlein purpura: polymorphisms in thrombophilia genes.
Pediatric nephrology (Berlin, Germany) 2006;21(8):1117-21.
2006: Amy Finch; Mario E Beiner; Jan Lubinski; Henry T Lynch; Pal Moller; Barry Rosen; Joan Murphy; Parviz Ghadirian; Eitan Friedman; William D Foulkes; Charmaine Kim-Sing; Teresa Wagner; Nadine Tung; Fergus J. Couch; Dominique Stoppa-Lyonnet; Peter Ainsworth; Mary Daly; Barbara Pasini; Ruth Gershoni-Baruch; Charis Eng; Olufunmilayo I Olopade; Jane McLennan; Beth Y Karlan; Jeffrey N Weitzel; Ping Sun; Steven A Narod
Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 Mutation.
JAMA : the journal of the American Medical Association 2006;296(2):185-92.
2006: Motti Haimi; Haimi Motti; Irit Avivi; Avivi Irit; Nivin Moustafa; Moustafa Nivin; Olfat Aboleil; Aboleil Olfat; Ruth Gershoni-Baruch; Gershoni-Baruch Ruth
Treatment-related acute myeloid leukemia characterized by t(11;20)(p15;q11) and del(9)(q22).
Cancer genetics and cytogenetics 2006;167(2):186-8.
2006: Inbar Gal; Gad Kimmel; Ruth Gershoni-Baruch; Moshe Z Papa; Efrat Dagan; Ron Shamir; Eitan Friedman
A specific RAD51 haplotype increases breast cancer risk in Jewish non-Ashkenazi high-risk women.
European journal of cancer (Oxford, England : 1990) 2006;42(8):1129-34.
2006: Judeh Abu Sa'd; Margarita Indelman; Ellen Pfendner; Tzipora C Falik-Zaccai; Mordechai Mizrachi-Koren; Stavit A Shalev; Dan Ben-Amitai; Annick Raas-Rothshild; Ayelet Adir-Shani; Zvi-Uri Borochowitz; Ruth Gershoni-Baruch; Morad Khayat; Daniela Landau; Gabriele Richard; Reuven Bergman; Jouni Uitto; Moien Kanaan; Eli Sprecher
Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population.
The Journal of investigative dermatology 2006;126(4):777-81.
2006: Sharon Simchoni; Eitan Friedman; Bella Kaufman; Ruth Gershoni-Baruch; Avi Orr-Urtreger; Inbal Kedar-Barnes; Ronit Shiri-Sverdlov; Efrat Dagan; Sigal Tsabari; Mordechai Shohat; Raphael Catane; Mary-Claire King; Amnon Lahad; Ephrat Levy-Lahad
Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population.
Proceedings of the National Academy of Sciences of the United States of America 2006;103(10):3770-4.
2006: Motti Haimi; Ronit Elhasid; Ruth Gershoni-Baruch; Shai Izraeli; Ronald J A Wanders; Hanna Mandel
Myeloid dysplasia in familial 3-methylglutaconic aciduria.
Journal of pediatric hematology/oncology 2006;28(2):69-72.
2006: Bettina Lorenz-Depiereux; Anna Benet-Pages; Gertrud Eckstein; Yardena Tenenbaum-Rakover; Janine Wagenstaller; Dov Tiosano; Ruth Gershoni-Baruch; Norbert Albers; Peter Lichtner; Dirk Schnabel; Ze'ev Hochberg; Tim M Strom
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.
American journal of human genetics 2006;78(2):193-201.
2006: Efrat Dagan; Yael Laitman; Nurit Levanon; Avner Feuer; A Ami Sidi; Jack Baniel; Yaacov Korach; Gilad Ben-Baruch; Eitan Friedman; Ruth Gershoni-Baruch
The 471delAAAG mutation and C353T polymorphism in the RNASEL gene in sporadic and inherited cancer in Israel.
Familial cancer 2006;5(4):389-95.
2006: Eitan Friedman; Joanne Kotsopoulos; Jan Lubinski; Henry T Lynch; Parviz Ghadirian; Susan L Neuhausen; Claudine Isaacs; Barbara Weber; William D Foulkes; Pal Moller; Barry Rosen; Charmaine Kim-Sing; Ruth Gershoni-Baruch; Peter Ainsworth; Mary Daly; Nadine Tung; Andrea Eisen; Olufunmilayo I Olopade; Beth Y Karlan; Howard M Saal; Judy E Garber; Gad Rennert; Dawna Gilchrist; Charis Eng; Kenneth Offit; Michael Osborne; Ping Sun; Steven A Narod
Spontaneous and therapeutic abortions and the risk of breast cancer among BRCA mutation carriers.
Breast cancer research : BCR 2006;8(2):R15.
2005: Carey A Cullinane; Jan Lubinski; Susan L Neuhausen; Parviz Ghadirian; Henry T Lynch; Claudine Isaacs; Barbara Weber; Pal Moller; Kenneth Offit; Charmaine Kim-Sing; Eitan Friedman; Susan Randall; Barbara Pasini; Peter Ainsworth; Ruth Gershoni-Baruch; William D Foulkes; Jan Klijn; Nadine Tung; Gad Rennert; Olufunmilayo I Olopade; Fergus J. Couch; Teresa Wagner; Håkan Olsson; Ping Sun; Jeffrey N Weitzel; Steven A Narod
Effect of pregnancy as a risk factor for breast cancer in BRCA1/BRCA2 mutation carriers.
International journal of cancer. Journal international du cancer 2005;117(6):988-91.
2005: Martin Zenker; Julia Mayerle; Markus M Lerch; Andreas Tagariello; Klaus Zerres; Peter Roy Durie; Matthias Beier; Georg Hülskamp; Celina Guzman; Helga Rehder; Frits A Beemer; Ben Hamel; Philippe Vanlieferinghen; Ruth Gershoni-Baruch; Marta W Vieira; Miroslav Dumic; Ron Auslender; Vera Lúcia Gil da Silva Lopes; Simone Steinlicht; Manfred Rauh; Stavit A Shalev; Christian T Thiel; Arif B Ekici; Andreas Winterpacht; Yong Tae Kwon; Alexander Varshavsky; André Reis
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome).
Nature genetics 2005;37(12):1345-50.
2005: Judith Aharon-Peretz; Samih Badarny; Hanna Rosenbaum; Ruth Gershoni-Baruch
Mutations in the glucocerebrosidase gene and Parkinson disease: phenotype-genotype correlation.
Neurology 2005;65(9):1460-1.
2005: Ram Kerner; Edmond Sabo; Ruth Gershoni-Baruch; Dan Beck; Ofer Ben-Izhak
Expression of cell cycle regulatory proteins in ovaries prophylactically removed from Jewish Ashkenazi BRCA1 and BRCA2 mutation carriers: correlation with histopathology.
Gynecologic oncology 2005;99(2):367-75.
2005: Andrea Eisen; Jan Lubinski; Jan Klijn; Pal Moller; Henry T Lynch; Kenneth Offit; Barbara Weber; Tim Rebbeck; Susan L Neuhausen; Parviz Ghadirian; William D Foulkes; Ruth Gershoni-Baruch; Eitan Friedman; Gadi Rennert; Teresa Wagner; Claudine Isaacs; Charmaine Kim-Sing; Peter Ainsworth; Ping Sun; Steven A Narod
Breast cancer risk following bilateral oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control study.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2005;23(30):7491-6.
2005: Motti Haimi; Ruth Gershoni-Baruch
Autosomal recessive Oliver-McFarlane syndrome: retinitis pigmentosa, short stature (GH deficiency), trichomegaly, and hair anomalies or CPD syndrome (chorioretinopathy-pituitary dysfunction).
American journal of medical genetics. Part A 2005;138A(3):268-71.
2005: Tamar Paperna; Ruth Gershoni-Baruch; Kader Badarneh; Lior Kasinetz; Ze'ev Hochberg
Mutations in CYP11B1 and congenital adrenal hyperplasia in Moroccan Jews.
The Journal of clinical endocrinology and metabolism 2005;90(9):5463-5.
2005: Eliahu G Stoupel; Helena Frimer; Zvi Appelman; Ziva Ben-Neriah; Hanna Dar; Moshe D Fejgin; Ruth Gershoni-Baruch; Esther Manor; Gad Barkai; Stavit A Shalev; Zully Gelman-Kohan; Orit Reish; Dorit Lev; Bella Davidov; Boleslaw Goldman; Mordechai Shohat
Chromosome aberration and environmental physical activity: Down syndrome and solar and cosmic ray activity, Israel, 1990-2000.
International journal of biometeorology 2005;50(1):1-5.
2005: 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 Y Karlan; Olufunmilayo I Olopade; Nadine Tung; Howard M Saal; Andrea Eisen; Michael Osborne; Håkan Olsson; Dawna Gilchrist; Ping Sun; Steven A Narod
Age at menarche and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers.
Cancer causes & control : CCC 2005;16(6):667-74.
2005: Naim Shehadeh; D Bakri; Pål R Njølstad; Ruth Gershoni-Baruch
Clinical characteristics of mutation carriers in a large family with glucokinase diabetes (MODY2).
Diabetic medicine : a journal of the British Diabetic Association 2005;22(8):994-8.
2005: T Ohayon; Ruth Gershoni-Baruch; Moshe Z Papa; T Distelman Menachem; Shlomit Eisenberg-Barzilai; Eitan Friedman
The R72P P53 mutation is associated with familial breast cancer in Jewish women.
British journal of cancer 2005;92(6):1144-8.
2005: M Koren-Michowitz; Eitan Friedman; Ruth Gershoni-Baruch; F Brok-Simoni; Y Patael; Gideon Rechavi; Ninette Amariglio
Coinheritance of BRCA1 and BRCA2 mutations with Fanconi anemia and Bloom syndrome mutations in Ashkenazi Jewish population: possible role in risk modification for cancer development.
American journal of hematology 2005;78(3):203-6.
2005: Amir Karban; Efrat Dagan; Rami Eliakim; A Herman; Shula Nesher; Batia Weiss; Drora Berkowitz; Raanan Shamir; Ruth Gershoni-Baruch
Prevalence and significance of mutations in the familial Mediterranean fever gene in patients with Crohn's disease.
Genes and immunity 2005;6(2):134-9.
2004: Judith Aharon-Peretz; Hanna Rosenbaum; Ruth Gershoni-Baruch
Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.
The New England journal of medicine 2004;351(19):1972-7.
2004: Motti Haimi; Ronit Elhasid; Myriam Weyl Ben Arush; Ronit Brill-Zamir; I Laevski; Ruth Gershoni-Baruch
Derivative (7)t(7;8)(q34;q21): an additional chromosome aberration in acute promyelocytic leukemia-prognostic influence debated.
Cancer genetics and cytogenetics 2004;153(1):81-3.
2004: Helena Jernström; Jan Lubinski; Henry T Lynch; Parviz Ghadirian; Susan L Neuhausen; Claudine Isaacs; Barbara L Weber; Douglas E Horsman; Barry Rosen; William D Foulkes; Eitan Friedman; Ruth Gershoni-Baruch; Peter Ainsworth; Mary Daly; Judy E Garber; Håkan Olsson; Ping Sun; Steven A Narod
Breast-feeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers.
Journal of the National Cancer Institute 2004;96(14):1094-8.
2004: Inbar Gal; Siegal Sadetzki; Ruth Gershoni-Baruch; Bernice Oberman; Howard Carp; Moshe Z Papa; Tal Diestelman-Menachem; Shlomit Eisenberg-Barzilai; Eitan Friedman
Offspring gender ratio and the rate of recurrent spontaneous miscarriages in jewish women at high risk for breast/ovarian cancer.
American journal of human genetics 2004;74(6):1270-5.
2004: Doua Bakri; Ruth Gershoni-Baruch; Naim Shehadeh
Permanent neonatal diabetes.
The Israel Medical Association journal : IMAJ 2004;6(5):290-1.
2004: Merav Lidar; Jean-Michel Scherrmann; Yael Shinar; Angela Chetrit; Elisabeth Niel; Ruth Gershoni-Baruch; Pnina Langevitz; Avi Livneh
Colchicine nonresponsiveness in familial Mediterranean fever: clinical, genetic, pharmacokinetic, and socioeconomic characterization.
Seminars in arthritis and rheumatism 2004;33(4):273-82.
2004: Inbar Gal; Ruth Gershoni-Baruch; Daniel Haber; Efrat Dagan; Shlomit Eisenberg-Barzilai; Jamal Zidan; Eitan Friedman
The 1100delAT BRCA1 and the 8765delAG BRCA2 mutations: occurrence in high-risk non-Ashkenazi Jews and haplotype comparison of Jewish and non-Jewish carriers.
Familial cancer 2004;3(1):11-4.
2003: Ruth Gershoni-Baruch; Yiftah Broza; Riva Brik
Prevalence and significance of mutations in the familial Mediterranean fever gene in Henoch-Schönlein purpura.
The Journal of pediatrics 2003;143(5):658-61.
2003: Riva Brik; Marwan Shinawi; Ruth Gershoni-Baruch
Infantile familial Mediterranean fever.
The Israel Medical Association journal : IMAJ 2003;5(10):746-7.
2003: Isabelle Touitou; Eldad Ben-Chetrit; Ruth Gershoni-Baruch; Gilles Grateau; Daniel Kastner; Isabelle Kone-Paut; Avi Livneh; Raffaele Manna; Issam Mansour; Huri Ozdogan; Seza Ozen; Tamara Sarkisian; Mehmet Tunca; Fatos Yalcinkaya
Allogenic bone marrow transplantation: not a treatment yet for familial Mediterranean fever.
Blood 2003;102(1):409.
2003: Riva Brik; Ruth Gershoni-Baruch; Marwan Shinawi; Larissa Barak; Lea Bentur
Pulmonary manifestations and function tests in children genetically diagnosed with FMF.
Pediatric pulmonology 2003;35(6):452-5.
2003: Amir Kugelman; Yoel Greif; Ruth Gershoni-Baruch; Drora Berkowitz; Lael Anson Best; Ludmila Guralnik; Lea Bentur
Pulmonary presentation of esophageal leiomyomatosis associated with Alport syndrome in childhood.
The Israel Medical Association journal : IMAJ 2003;5(4):293-4.
2003: Ruth Gershoni-Baruch; Riva Brik; Nurit Zacks; Marwan Shinawi; Merav Lidar; Avi Livneh
The contribution of genotypes at the MEFV and SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever.
Arthritis and rheumatism 2003;48(4):1149-55.
2003: Ruth Gershoni-Baruch; Riva Brik; Merav Lidar; Marwan Shinawi; Avi Livneh
Male sex coupled with articular manifestations cause a 4-fold increase in susceptibility to amyloidosis in patients with familial Mediterranean fever homozygous for the M694V-MEFV mutation.
The Journal of rheumatology 2003;30(2):308-12.
2003: Elias Toubi; Ruth Gershoni-Baruch; Abraham Kuten
Cisplatin treatment triggers familial Mediterranean fever attacks.
Tumori 2003;89(1):80-1.
2002: Efrat Dagan; Eitan Friedman; Tamar Paperna; Nirit Carmi; Ruth Gershoni-Baruch
Androgen receptor CAG repeat length in Jewish Israeli women who are BRCA1/2 mutation carriers: association with breast/ovarian cancer phenotype.
European journal of human genetics : EJHG 2002;10(11):724-8.
2002: Efrat Dagan; Ruth Gershoni-Baruch
Anticipation in hereditary breast cancer.
Clinical genetics 2002;62(2):147-50.
2002: Amos Etzioni; Laura Sturla; Anthony Antonellis; Eric Green; Ruth Gershoni-Baruch; Patricia M Berninsone; Carlos B Hirschberg; Michela Tonetti
Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlation.
American journal of medical genetics 2002;110(2):131-5.
2002: Ruth Gershoni-Baruch; Marwan Shinawi; Hussein Shamaly; Leah Katsinetz; Riva Brik
Familial Mediterranean fever: the segregation of four different mutations in 13 individuals from one inbred family: genotype-phenotype correlation and intrafamilial variability.
American journal of medical genetics 2002;109(3):198-201.
2002: Ruth Gershoni-Baruch; Riva Brik; Marwan Shinawi; Avi Livneh
The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever.
European journal of human genetics : EJHG 2002;10(2):145-9.
2001: Efrat Dagan; Ruth Gershoni-Baruch
Hereditary breast/ovarian cancer--pitfalls in genetic counseling.
Clinical genetics 2001;60(4):310-3.
2001: Ruth Gershoni-Baruch; Marwan Shinawi; K Leah; K Badarnah; Riva Brik
Familial Mediterranean fever: prevalence, penetrance and genetic drift.
European journal of human genetics : EJHG 2001;9(8):634-7.
2001: Riva Brik; Marwan Shinawi; Lior Kasinetz; Ruth Gershoni-Baruch
The musculoskeletal manifestations of familial Mediterranean fever in children genetically diagnosed with the disease.
Arthritis and rheumatism 2001;44(6):1416-9.
2001: Riva Brik; D Litmanovitz; Drora Berkowitz; R Shamir; E Rosenthal; Marwan Shinawi; D Litmanovich; Ruth Gershoni-Baruch
Incidence of familial Mediterranean fever (FMF) mutations among children of Mediterranean extraction with functional abdominal pain.
The Journal of pediatrics 2001;138(5):759-62.
2001: Ephrat Levy-Lahad; Amnon Lahad; Shlomit Eisenberg; Efrat Dagan; Tamar Paperna; Lior Kasinetz; Raphael Catane; Bella Kaufman; Uziel Beller; Paul Renbaum; Ruth Gershoni-Baruch
A single nucleotide polymorphism in the RAD51 gene modifies cancer risk in BRCA2 but not BRCA1 carriers.
Proceedings of the National Academy of Sciences of the United States of America 2001;98(6):3232-6.
2001: Imad R Makhoul; Ayala Aviram-Goldring; Tamar Paperna; Polo Sujov; Shlomit Rienstein; Tatiana Smolkin; Monica Epelman; Ruth Gershoni-Baruch
Caudal dysplasia sequence with penile enlargement: case report and a potential pathogenic hypothesis.
American journal of medical genetics 2001;99(1):54-8.
2000: Ruth Gershoni-Baruch; Efrat Dagan; D Israeli; Lior Kasinetz; E Kadouri; Eitan Friedman
Association of the C677T polymorphism in the MTHFR gene with breast and/or ovarian cancer risk in Jewish women.
European journal of cancer (Oxford, England : 1990) 2000;36(18):2313-6.
2000: R Jayoussi-Assalia; Amos Etzioni; L D Notarangelo; Ronit Brill-Zamir; Lior Kasinetz; E Kadouri; Ruth Gershoni-Baruch
Prenatal diagnosis of X-linked hyper-IGM syndrome by direct detection of mutation Q220X in the CD40L gene using PCR-mediated site directed mutagenesis.
Prenatal diagnosis 2000;20(10):822-3.
2000: Ruth Gershoni-Baruch; Y Patael; Arie Figer; Lior Kasinetz; E Kadouri; R Bruchim Bar Sade; Eitan Friedman
Association of the I1307K APC mutation with hereditary and sporadic breast/ovarian cancer: more questions than answers.
British journal of cancer 2000;83(2):153-5.
2000: Carlos Knopf; R Rod; J Jaeken; Moshe Berant; E Van Schaftingen; J P Fryns; Ronit Brill-Zamir; Ruth Gershoni-Baruch; Sophie Lischinsky; Hanna Mandel
Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism.
Journal of inherited metabolic disease 2000;23(4):399-403.
2000: E Veitzman; Larissa Shenkar; Gideon Shoshany; Lior Kasinetz; Ruth Gershoni-Baruch; Ronit Brill-Zamir; Yaacov Baruch
Detection of transplanted liver cells to the spleen by semiquantitative analysis using PCR for the Sry region on the Y chromosome.
Transplantation proceedings 2000;32(4):721-3.
2000: Marwan Shinawi; Riva Brik; Moshe Berant; Lior Kasinetz; Ruth Gershoni-Baruch
Familial Mediterranean fever: high gene frequency and heterogeneous disease among an Israeli-Arab population.
The Journal of rheumatology 2000;27(6):1492-5.
2000: Ruth Gershoni-Baruch; Efrat Dagan; G Fried; R Bruchim Bar-Sade; R Sverdlov-Shiri; G Zelicksson; Eitan Friedman
Significantly lower rates of BRCA1/BRCA2 founder mutations in Ashkenazi women with sporadic compared with familial early onset breast cancer.
European journal of cancer (Oxford, England : 1990) 2000;36(8):983-6.
1999: Ruth Gershoni-Baruch; Efrat Dagan; G Fried; I Kepten; E Robinson
BRCA1 and BRCA2 founder mutations in patients with bilateral breast cancer.
European journal of human genetics : EJHG 1999;7(7):833-6.
1999: Dov Tiosano; Silvana Pannain; Gilbert Vassart; J Parma; Ruth Gershoni-Baruch; Hanna Mandel; R Lotan; Y Zaharan; Menucha Pery; Roy E Weiss; Samuel Refetoff; Ze'ev Hochberg
The hypothyroidism in an inbred kindred with congenital thyroid hormone and glucocorticoid deficiency is due to a mutation producing a truncated thyrotropin receptor.
Thyroid : official journal of the American Thyroid Association 1999;9(9):887-94.
1999: Y Patael; Arie Figer; Ruth Gershoni-Baruch; Moshe Z Papa; S Risel; R Shtoyerman-Chen; A Karasik; Livia Theodor; Eitan Friedman
Common origin of the I1307K APC polymorphism in Ashkenazi and non-Ashkenazi Jews.
European journal of human genetics : EJHG 1999;7(5):555-9.
1999: Riva Brik; Marwan Shinawi; I Kepten; Moshe Berant; Ruth Gershoni-Baruch
Familial Mediterranean fever: clinical and genetic characterization in a mixed pediatric population of Jewish and Arab patients.
Pediatrics 1999;103(5):e70.
1999: Ruth Gershoni-Baruch; I Kepten; Marwan Shinawi; Riva Brik
Direct detection of common mutations in the familial Mediterranean fever gene (MEFV) using naturally occurring and primer mediated restriction fragment analysis. Mutation in brief no. 257. Online.
Human mutation 1999;14(1):91.
1998: Eitan Friedman; R Bar-Sade Bruchim; A Kruglikova; S Risel; Ephrat Levy-Lahad; David Halle; E Bar-On; Ruth Gershoni-Baruch; Efrat Dagan; I Kepten; Tamar Peretz; Israela Lerer; N Wienberg; A Shushan; A D Abeliovich
Double heterozygotes for the Ashkenazi founder mutations in BRCA1 and BRCA2 genes.
American journal of human genetics 1998;63(4):1224-7.
1998: Amos Etzioni; Ruth Gershoni-Baruch; S Pollack; Naim Shehadeh
Leukocyte adhesion deficiency type II: long-term follow-up.
The Journal of allergy and clinical immunology 1998;102(2):323-4.
1998: Naim Shehadeh; Ruth Gershoni-Baruch; Amos Etzioni
Congenital diabetes in an infant with trisomy 21.
Journal of pediatric endocrinology & metabolism : JPEM 1998;11(4):575-6.
1998: RB Bar-Sade; A Kruglikova; Baruch Modan; E Gak; Galit Hirsh-Yechezkel; Livia Theodor; I Novikov; Ruth Gershoni-Baruch; S Risel; Moshe Z Papa; Gilad Ben-Baruch; Eitan Friedman
The 185delAG BRCA1 mutation originated before the dispersion of Jews in the diaspora and is not limited to Ashkenazim.
Human molecular genetics 1998;7(5):801-5.
1998: H Kalinsky; A Funes; A Zeldin; Y Pel-Or; Michael Korostishevsky; Ruth Gershoni-Baruch; Lindsay A Farrer; Batsheva Bonne-Tamir
Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups.
Human mutation 1998;11(2):145-51.
1997: Efrat Dagan; Ruth Gershoni-Baruch
[BRCA1 and BRCA2--breast cancer susceptibility genes].
Harefuah 1997;133(10):455-7.
1997: Ruth Gershoni-Baruch; Efrat Dagan; I Kepten; G Freid
Co-segregation of BRCA1 185delAG mutation and BRCA2 6174delT in one single family.
European journal of cancer (Oxford, England : 1990) 1997;33(13):2283-4.
1997: Ruth Gershoni-Baruch; D Goldscher; Z Hochberg
Ectrodactyly-ectodermal dysplasia-clefting syndrome and hypothalamo-pituitary insufficiency.
American journal of medical genetics 1997;68(2):168-72.
1996: Naim Shehadeh; Ruth Gershoni-Baruch; Hanna Mandel; I Nutenko; Amos Etzioni
Congenital permanent diabetes: a different type of diabetes?
Acta paediatrica (Oslo, Norway : 1992) 1996;85(12):1415-7.
1996: Ruth Gershoni-Baruch; Hanna Mandel; H Bar El; N Bar-Nizan; Z Borochowitz; H Dar
Interstitial deletion (6)q13q15.
American journal of medical genetics 1996;62(4):345-7.
1996: Ruth Gershoni-Baruch; R Leibo
Aplasia cutis congenita, high myopia, and cone-rod dysfunction in two sibs: a new autosomal recessive disorder.
American journal of medical genetics 1996;61(1):42-4.
1995: Giora Pillar; Menashe Zaaroor; Ruth Gershoni-Baruch
Autosomal dominant holocalvarial craniosynostosis.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 1995;11(11):617-20.
1995: Arie Drugan; A Vadas; Polo Sujov; Ruth Gershoni-Baruch
Markedly elevated alpha-fetoprotein and positive acetylcholinesterase in amniotic fluid from a pregnancy affected with dystrophic epidermolysis bullosa.
Fetal diagnosis and therapy 1995;10(1):37-40.
1994: Ruth Gershoni-Baruch; Rachel Epstein; Orna Tzischinsky; Peretz Lavie; J M Brandes
Actigraphic home-monitoring of the sleep patterns of in vitro fertilization children and their matched controls.
Developmental medicine and child neurology 1994;36(7):639-45.
1994: Ruth Gershoni-Baruch; A Rosenmann; S Droetto; S Holmes; R K Tripathi; Richard A Spritz
Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel.
American journal of human genetics 1994;54(4):586-94.
1993: C Lichtig; R M Ludatscher; Hanna Mandel; Ruth Gershoni-Baruch
Muscle involvement in Walker-Warburg syndrome. Clinicopathologic features of four cases.
American journal of clinical pathology 1993;100(5):493-6.
1993: Moshe Bronshtein; Ruth Gershoni-Baruch
Prenatal transvaginal diagnosis of the ectrodactyly, ectodermal dysplasia, cleft palate (EEC) syndrome.
Prenatal diagnosis 1993;13(6):519-22.
1992: Ruth Gershoni-Baruch
Choanal atresia: evidence for autosomal recessive inheritance.
American journal of medical genetics 1992;44(6):754-6.
1992: Ruth Gershoni-Baruch; T Nachlieli; R Leibo; Shimon Degani; I Weissman
Cystic kidney dysplasia and polydactyly in 3 sibs with Bardet-Biedl syndrome.
American journal of medical genetics 1992;44(3):269-73.
1992: J M Brandes; A Scher; J Itzkovits; Israel Thaler; M Sarid; Ruth Gershoni-Baruch
Growth and development of children conceived by in vitro fertilization.
Pediatrics 1992;90(3):424-9.
1992: Y Porges; Ruth Gershoni-Baruch; R Leibu; D Goldscher; S Zonis; israel shapiro; Benjamin Miller
Hereditary microphthalmia with colobomatous cyst.
American journal of ophthalmology 1992;114(1):30-4.
1992: T Nachlieli; Ruth Gershoni-Baruch
Dextrocardia, microphthalmia, cleft palate, choreoathetosis, and mental retardation in an infant born to consanguineous parents.
American journal of medical genetics 1992;42(4):458-60.
1991: Ruth Gershoni-Baruch; R M Ludatscher; C Lichtig; Polo Sujov; I Machoul
Cerebro-oculo-facio-skeletal syndrome: further delineation.
American journal of medical genetics 1991;41(1):74-7.
1991: Gad Bar-Joseph; Amos Etzioni; J Hemli; Ruth Gershoni-Baruch
Guillain-Barré syndrome in three siblings less than 2 years old.
Archives of disease in childhood 1991;66(9):1078-9.
1991: Ruth Gershoni-Baruch; T Nachlieli; JN Guilburd
Apert's syndrome with occipital encephalocele and absence of corpus callosum.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 1991;7(4):231-2.
1991: Yaacov Baruch; Y Ben-Arie; Hedviga Kerner; M Lorber; Lael Anson Best; Ruth Gershoni-Baruch
Giant lymph node hyperplasia (Castleman's disease): a clinical study of eight patients.
Postgraduate medical journal 1991;67(786):366-70.
1991: Ruth Gershoni-Baruch; A Benderly; J M Brandes; A Gilhar
Dopa reaction test in hair bulbs of fetuses and its application to the prenatal diagnosis of albinism.
Journal of the American Academy of Dermatology 1991;24(2 Pt 1):220-2.
1991: Ruth Gershoni-Baruch; A Scher; J Itskovitz; Israel Thaler; J M Brandes
The physical and psychomotor development of children conceived by IVF and exposed to high-frequency vaginal ultrasonography (6.5 MHz) in the first trimester of pregnancy.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 1991;1(1):21-8.
1991: J Braun; A Lerner; Ruth Gershoni-Baruch
The temporal bone in the Johanson-Blizzard syndrome. A CT study.
Pediatric radiology 1991;21(8):580-3.
1990: Ruth Gershoni-Baruch; Arie Drugan; Moshe Bronshtein; E Z Zimmer
Roberts syndrome or "X-linked amelia"?
American journal of medical genetics 1990;37(4):569-72.
1990: J M Brandes; J Itskovitz; A Scher; Ruth Gershoni-Baruch
The physical and mental development of co-sibs surviving selective reduction of multifetal pregnancies.
Human reproduction (Oxford, England) 1990;5(8):1014-7.
1990: Ruth Gershoni-Baruch; E V Moor; R Enat
Marfan syndrome associated with bicuspid aortic valve, premature aging, and primary hypogonadism.
American journal of medical genetics 1990;37(2):169-72.
1990: Ruth Gershoni-Baruch; Hanna Mandel; B Miller; Polo Sujov; J Braun
Walker-Warburg syndrome with microtia and absent auditory canals.
American journal of medical genetics 1990;37(1):87-91.
1990: Ruth Gershoni-Baruch; I Machoul; Y Weiss; S Blazer
Unknown syndrome: radial ray defects, omphalocele, diaphragmatic hernia, and hepatic cyst.
Journal of medical genetics 1990;27(6):403-4.
1990: Ruth Gershoni-Baruch; A Lerner; J Braun; Y Katzir; THEODORE C IANCU; A Benderly
Johanson-Blizzard syndrome: clinical spectrum and further delineation of the syndrome.
American journal of medical genetics 1990;35(4):546-51.
1990: Amos Etzioni; N Obedeanu; A Benderly; Ruth Gershoni-Baruch
Saethre-Chotzen syndrome associated with defective neutrophil chemotaxis.
Acta paediatrica Scandinavica 1990;79(3):375-9.
1990: Ruth Gershoni-Baruch
Carpenter syndrome: marked variability of expression to include the Summitt and Goodman syndromes.
American journal of medical genetics 1990;35(2):236-40.
1989: Ruth Gershoni-Baruch; E Gottfried; M Pery; A Sahin; Amos Etzioni
Immotile cilia syndrome including polysplenia, situs inversus, and extrahepatic biliary atresia.
American journal of medical genetics 1989;33(3):390-3.
1988: Ruth Gershoni-Baruch; Yaacov Baruch; A Viener; C Lichtig
Fechtner syndrome: clinical and genetic aspects.
American journal of medical genetics 1988;31(2):357-67.