Ruth Gershoni-Baruch

Summary

Country: Israel

Publications

  1. ncbi request reprint Familial Mediterranean fever: the segregation of four different mutations in 13 individuals from one inbred family: genotype-phenotype correlation and intrafamilial variability
    Ruth Gershoni-Baruch
    Institute of Human Genetics, Rambam Medical Center, Haifa, Israel
    Am J Med Genet 109:198-201. 2002
  2. ncbi request reprint The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever
    Ruth Gershoni-Baruch
    Institute of Human Genetics, Rambam Medical Center, Haifa, Israel
    Eur J Hum Genet 10:145-9. 2002
  3. ncbi request reprint 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
    Ruth Gershoni-Baruch
    Department of Human Genetics, Rambam Medical Center, Haifa, Israel
    J Rheumatol 30:308-12. 2003
  4. ncbi request reprint The contribution of genotypes at the MEFV and SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever
    Ruth Gershoni-Baruch
    Rambam Medical Center, Haifa, Israel
    Arthritis Rheum 48:1149-55. 2003
  5. doi request reprint MEFV, TNF1rA, CARD15 and NLRP3 mutation analysis in PFAPA
    Efrat Dagan
    Institute of Human Genetics, Rambam Health Care Campus, Haifa, Israel
    Rheumatol Int 30:633-6. 2010
  6. doi request reprint Kohlschutter-Tonz syndrome: clinical and genetic insights gained from 16 cases deriving from a close-knit village in Northern Israel
    Adi Mory
    Institute of Human Genetics, Rambam Health Care Campus, Haifa, Israel
    Pediatr Neurol 50:421-6. 2014
  7. ncbi request reprint Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews
    Judith Aharon-Peretz
    Department of Neurology and the Cognitive Neurology Unit, Rambam Medical Center, Haifa, Israel
    N Engl J Med 351:1972-7. 2004
  8. doi request reprint A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability
    Tzipora C Falik-Zaccai
    Institute of Human Genetics, Western Galilee Hospital Nahariya, Nahariya, Israel
    Am J Med Genet B Neuropsychiatr Genet 153:46-56. 2010
  9. ncbi request reprint Prevalence and significance of mutations in the familial Mediterranean fever gene in Henoch-Schönlein purpura
    Ruth Gershoni-Baruch
    Department of Human Genetics, Rambam Medical Center, and The Bruce Rappoport Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel
    J Pediatr 143:658-61. 2003
  10. doi request reprint Vascular behcet and mutations in thrombogenic genes: methylene tetrahydrofolate reductase, factor V, and prothrombin
    Efrat Dagan
    Department of Nursing, University of Haifa, Haifa, Israel
    Genet Test Mol Biomarkers 16:30-5. 2012

Detail Information

Publications48

  1. ncbi request reprint Familial Mediterranean fever: the segregation of four different mutations in 13 individuals from one inbred family: genotype-phenotype correlation and intrafamilial variability
    Ruth Gershoni-Baruch
    Institute of Human Genetics, Rambam Medical Center, Haifa, Israel
    Am J Med Genet 109:198-201. 2002
    ..The occurrence of four different mutations in two sets of consanguineous parents merits consideration per se...
  2. ncbi request reprint The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever
    Ruth Gershoni-Baruch
    Institute of Human Genetics, Rambam Medical Center, Haifa, Israel
    Eur J Hum Genet 10:145-9. 2002
    ..These findings increase our understanding of the role of allelic variability in disease expression...
  3. ncbi request reprint 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
    Ruth Gershoni-Baruch
    Department of Human Genetics, Rambam Medical Center, Haifa, Israel
    J Rheumatol 30:308-12. 2003
    ..We investigated the role of sex as an independent contributor to the phenotypic profile in FMF and further defined the factors affecting disease expression and severity...
  4. ncbi request reprint The contribution of genotypes at the MEFV and SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever
    Ruth Gershoni-Baruch
    Rambam Medical Center, Haifa, Israel
    Arthritis Rheum 48:1149-55. 2003
    ..In this study, we analyzed the contribution of genotypes at the MEFV and SAA1 loci to disease severity and to the development of amyloidosis, and further defined the factors affecting the clinical profile of FMF...
  5. doi request reprint MEFV, TNF1rA, CARD15 and NLRP3 mutation analysis in PFAPA
    Efrat Dagan
    Institute of Human Genetics, Rambam Health Care Campus, Haifa, Israel
    Rheumatol Int 30:633-6. 2010
    ..It is debated whether MEFV mutations, when mediated by the presence of additional modifiers, may expose a transient fever condition, namely PFAPA...
  6. doi request reprint Kohlschutter-Tonz syndrome: clinical and genetic insights gained from 16 cases deriving from a close-knit village in Northern Israel
    Adi Mory
    Institute of Human Genetics, Rambam Health Care Campus, Haifa, Israel
    Pediatr Neurol 50:421-6. 2014
    ..R157X, corresponding to ROGDI c.571C>T, which creates a premature stop codon in ROGDI homolog (Drosophila), a gene of unknown function, in KTS patients of Druze origin...
  7. ncbi request reprint Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews
    Judith Aharon-Peretz
    Department of Neurology and the Cognitive Neurology Unit, Rambam Medical Center, Haifa, Israel
    N Engl J Med 351:1972-7. 2004
    ..We examined whether mutations in the GBA gene are relevant to idiopathic Parkinson's disease...
  8. doi request reprint A broad spectrum of developmental delay in a large cohort of prolidase deficiency patients demonstrates marked interfamilial and intrafamilial phenotypic variability
    Tzipora C Falik-Zaccai
    Institute of Human Genetics, Western Galilee Hospital Nahariya, Nahariya, Israel
    Am J Med Genet B Neuropsychiatr Genet 153:46-56. 2010
    ....
  9. ncbi request reprint Prevalence and significance of mutations in the familial Mediterranean fever gene in Henoch-Schönlein purpura
    Ruth Gershoni-Baruch
    Department of Human Genetics, Rambam Medical Center, and The Bruce Rappoport Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel
    J Pediatr 143:658-61. 2003
    ....
  10. doi request reprint Vascular behcet and mutations in thrombogenic genes: methylene tetrahydrofolate reductase, factor V, and prothrombin
    Efrat Dagan
    Department of Nursing, University of Haifa, Haifa, Israel
    Genet Test Mol Biomarkers 16:30-5. 2012
    ..3% and 3 of 43, 7%, p=0.09). Thrombotic events in our patients with BD were not associated with variations in thrombophilic genes...
  11. pmc A nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndrome
    Adi Mory
    Ruth and Bruce Rappaport Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel
    Am J Hum Genet 90:708-14. 2012
    ..However, age of onset and the severity of mental and motor handicaps and that of convulsions varied among affected individuals homozygous for the same nonsense allele...
  12. ncbi request reprint Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlation
    Amos Etzioni
    Department of Pediatrics and Immunology, Rambam Med Ctr, B Rapapport School of Medicine, Technion, Haifa, Israel
    Am J Med Genet 110:131-5. 2002
    ..Genotype/phenotype correlation studies show that the two different mutations are distinguished by differences in response to fucose supplementation and in the clinical phenotypes...
  13. ncbi request reprint Pulmonary manifestations and function tests in children genetically diagnosed with FMF
    Riva Brik
    Department of Pediatrics, Rambam Medical Center, and Faculty of Medicine, Institute of Technology, Technion Israel, Haifa, Israel
    Pediatr Pulmonol 35:452-5. 2003
    ..Restrictive lung impairment was found in a small number of these patients with a severe course of the disease; however, the series is too small to draw conclusions about long-term sequelae of the respiratory system in FMF patients...
  14. doi request reprint A Novel Missense Mutation in FLT4 Causes Autosomal Recessive Hereditary Lymphedema
    Svetlana Melikhan-Revzin
    1 Institute of Human Genetics, Rambam Health Care Campus, Haifa, Israel
    Lymphat Res Biol 13:107-11. 2015
    ..Our research aimed to map and ultimately to hunt the mutation that causes hereditary lymphedema in an extended consanguineous Muslim family consisting of several affected individuals...
  15. pmc BRCA1/2 mutations and FMR1 alleles are randomly distributed: a case control study
    Efrat Dagan
    1 Institute of Human Genetics, Rambam Health Care Campus, Haifa, Israel 2 Department of Nursing, University of Haifa, Haifa, Israel
    Eur J Hum Genet 22:277-9. 2014
    ..The notion that BRCA1/2 mutations are embryo-lethal unless rescued by the low FMR1 subgenotypes is hereby refuted. ..
  16. ncbi request reprint Androgen receptor CAG repeat length in Jewish Israeli women who are BRCA1/2 mutation carriers: association with breast/ovarian cancer phenotype
    Efrat Dagan
    Institute of Human Genetics, Rambam Medical Center, Haifa, Israel
    Eur J Hum Genet 10:724-8. 2002
    ..A small effect of a short AR CAG allele size on breast cancer at early age (<42 years) cannot be excluded...
  17. ncbi request reprint Anophthalmia-plus syndrome: a clinical report and review of the literature
    Imad R Makhoul
    Department of Neonatology, Meyer Children s Hospital, Rambam Health Care Campus, and the Rappaport Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel
    Am J Med Genet A 143:64-8. 2007
    ..The karyotype was normal. Summary of the findings in nine cases (our case and eight published cases) support the notion that anophthalmia-plus syndrome (APS) is a distinct syndrome. Gene locus of APS is yet to be identified...
  18. pmc A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred
    Adi Mory
    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
    Eur J Hum Genet 22:419-22. 2014
    ..Enzymatic activity, studied in vitro, showed no changes between the mutated and the wild-type ALDH1A3 protein. ..
  19. ncbi request reprint Mutations in the glucocerebrosidase gene and Parkinson disease: phenotype-genotype correlation
    Judith Aharon-Peretz
    Department of Neurology, Rambam Medical Center, Haifa, Israel
    Neurology 65:1460-1. 2005
    ..The overall clinical manifestations and age at disease onset did not differ in patients with GBA mutations compared to patients without mutations...
  20. doi request reprint LRRK2, GBA and SMPD1 Founder Mutations and Parkinson's Disease in Ashkenazi Jews
    Efrat Dagan
    Department of Nursing, Faculty of Social Welfare and Health Sciences, University of Haifa, Haifa, Israel
    Dement Geriatr Cogn Disord 42:1-6. 2016
    ..Parkinson's disease (PD) is associated with mutations in LRRK2, GBA, and SMPD1 genes. We describe the clinical characteristics of PD patients related to their carrier status of the Ashkenazi founder mutations in the aforementioned genes...
  21. doi request reprint "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
    Efrat Dagan
    1 Department of Nursing, University of Haifa, Haifa, Israel
    Genet Test Mol Biomarkers 18:461-6. 2014
    ....
  22. ncbi request reprint Infantile familial Mediterranean fever
    Riva Brik
    Department of Pediatrics, Institue of Human Genetics, Meyer Children s Hospital, Rambam Medical Center, Technion Faculty of Medicine, Haifa, Israel
    Isr Med Assoc J 5:746-7. 2003
  23. ncbi request reprint Myeloid dysplasia in familial 3-methylglutaconic aciduria
    Motti Haimi
    Department of Pediatric Hemato Oncology, Meyer Children s Hospital, Rambam Medical Center, Haifa, Israel
    J Pediatr Hematol Oncol 28:69-72. 2006
    ....
  24. ncbi request reprint Henoch-Schonlein purpura: polymorphisms in thrombophilia genes
    Efrat Dagan
    Department of Human Genetics, Rambam Medical Center and Department of Nursing, Faculty of Welfare and Social Studies, University of Haifa, Haifa, Israel
    Pediatr Nephrol 21:1117-21. 2006
    ..Studies in larger cohorts and possibly inclusion of additional factors may be needed to ascertain whether homozygoty for MTHFR 677T polymorphism can influence disease severity...
  25. ncbi request reprint Permanent neonatal diabetes
    Doua Bakri
    Pediatric Diabetes Unit, Meyers Children s Hospital of Haifa, Haifa, Israel
    Isr Med Assoc J 6:290-1. 2004
  26. ncbi request reprint The 471delAAAG mutation and C353T polymorphism in the RNASEL gene in sporadic and inherited cancer in Israel
    Efrat Dagan
    Rambam Medical Center, Institute of Human Genetics, Haifa, Israel
    Fam Cancer 5:389-95. 2006
    ..A silent polymorphism in the RNASEL gene occurs more prevalently in high-risk Ashkenazi breast/ovarian cancer patients without a BRCA1/2 mutation...
  27. ncbi request reprint Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever
    Isabelle Touitou
    Hopital Arnaud de Villeneuve, Montpellier, France
    Arthritis Rheum 56:1706-12. 2007
    ..The aim of this study was to examine the controversial issue of amyloidosis susceptibility in FMF by determining the relative contributions of MEFV and numerous epidemiologic factors to the risk of renal amyloidosis...
  28. pmc Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy
    Daniella Magen
    Pediatric Nephrology Unit, Rambam Health Care Campus, Haifa 31096, Israel
    Am J Hum Genet 83:30-42. 2008
    ..These findings should help to clarify the important role of Hsp60 in myelinogenesis and neurodegeneration...
  29. ncbi request reprint Colchicine nonresponsiveness in familial Mediterranean fever: clinical, genetic, pharmacokinetic, and socioeconomic characterization
    Merav Lidar
    Heller Institute of Medical Research, Sheba Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Hashomer, Israel
    Semin Arthritis Rheum 33:273-82. 2004
    ..To identify the ethnic, clinical, genetic, and pharmacokinetic correlates of colchicine treatment failure in patients with familial Mediterranean fever (FMF)...
  30. pmc SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4
    Hannah Mandel
    Metabolic Disease Unit, Meyer Children s Hospital, Haifa 31096, Israel
    Am J Hum Genet 82:39-47. 2008
    ..Taken together with previous observations in animal models, the present data attribute a pivotal role to WNT4 signaling during organogenesis in humans...
  31. ncbi request reprint A specific RAD51 haplotype increases breast cancer risk in Jewish non-Ashkenazi high-risk women
    Inabr Gal
    The Susanne Levy Gertner Oncogenetics Unit, The Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel Hashomer 52621, Israel
    Eur J Cancer 42:1129-34. 2006
    ..8% (40/238 haplotypes) of high-risk breast cancer patients (n=119, P=0.001). A specific RAD51 haplotype is more prevalent among non-Ashkenazi Jewish high-risk women than in average-risk population...
  32. ncbi request reprint Mutations in CYP11B1 and congenital adrenal hyperplasia in Moroccan Jews
    Tamar Paperna
    Genetics Institute and Division of Endocrinology, Meyer Children s Hospital, P O B 9602, Haifa 31096, Israel
    J Clin Endocrinol Metab 90:5463-5. 2005
    ..A single mutation in the CYP11B1 gene (encoding 11beta-hydroxylase), R448H, was suggested to account for the disease alleles in this population...
  33. ncbi request reprint Chromosome aberration and environmental physical activity: Down syndrome and solar and cosmic ray activity, Israel, 1990-2000
    Eliahu G Stoupel
    Division of Cardiology, Rabin Medical Centre, Beilinson Campus, Petah Tikva, Israel
    Int J Biometeorol 50:1-5. 2005
    ..We have confirmed a strong trend towards an association between the cosmic ray activity level and the incidence of DS...
  34. ncbi request reprint Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers
    Steven A Narod
    The Centre for Research on Women s Health, University of Toronto, 790 Bay Street, Toronto, Ontario M5G 1N8, Canada
    J Natl Cancer Inst 94:1773-9. 2002
    ..We examined whether this association is seen in women at high risk of breast cancer because they carry a mutation in one of two breast cancer susceptibility genes, BRCA1 and BRCA2...
  35. ncbi request reprint Expression of cell cycle regulatory proteins in ovaries prophylactically removed from Jewish Ashkenazi BRCA1 and BRCA2 mutation carriers: correlation with histopathology
    Ram Kerner
    Department of Obstetrics and Gynecology, Rabin Medical Center, Beilinson Campus, Petah Tiqva 49100, Israel
    Gynecol Oncol 99:367-75. 2005
    ..Our aim was to study the expression of cell cycle regulatory proteins--p53, Skp2, p27, Ki67, Bcl2 and p16--in correlation with histopathological changes. p16(INK4A) was not studied before in prophylactically removed ovaries...
  36. ncbi request reprint Cisplatin treatment triggers familial Mediterranean fever attacks
    Elias Toubi
    Clinical Immunology, Bnai Zion Medical Center, Haifa, Israel
    Tumori 89:80-1. 2003
    ..The oncologist should be made aware of the possibility of disease aggravation in FMF patients during cisplatin-based chemotherapy...
  37. ncbi request reprint Allogenic bone marrow transplantation: not a treatment yet for familial Mediterranean fever
    Isabelle Touitou
    Blood 102:409. 2003
  38. ncbi request reprint Pulmonary presentation of esophageal leiomyomatosis associated with Alport syndrome in childhood
    Amir Kugelman
    Department of Neonatology, Bnai Zion Medical Center, Haifa, Israel
    Isr Med Assoc J 5:293-4. 2003
  39. ncbi request reprint Breast cancer risk following bilateral oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control study
    Andrea Eisen
    Toronto Sunnybrook Regional Cancer Center, Toronto, ON, Canada
    J Clin Oncol 23:7491-6. 2005
    ....
  40. ncbi request reprint Autosomal recessive Oliver-McFarlane syndrome: retinitis pigmentosa, short stature (GH deficiency), trichomegaly, and hair anomalies or CPD syndrome (chorioretinopathy-pituitary dysfunction)
    Motti Haimi
    Department of Human Genetics, Rambam Medical Center, Technion Israel Institute of Technology, Haifa, Israel
    Am J Med Genet A 138:268-71. 2005
    ..Evolving pigmentary retinopathy was diagnosed at the age of 5 years. A similar condition (Oliver-McFarlane) syndrome was reported previously. Our two sibs confirm the existence of this autosomal recessive syndrome...
  41. pmc Offspring gender ratio and the rate of recurrent spontaneous miscarriages in jewish women at high risk for breast/ovarian cancer
    Inbar Gal
    Susanne Levy Gertner Oncogenetics Unit, Chaim Sheba Medical Center, Tel Hashomer, 52621, Israel
    Am J Hum Genet 74:1270-5. 2004
    ..In conclusion, the offspring gender ratio is similar in high-risk Jewish families and in the general population. The issue of the rate of recurrent miscarriages in high-risk Jewish women is unresolved...
  42. doi request reprint Kindlin-3: a new gene involved in the pathogenesis of LAD-III
    Adi Mory
    Blood 112:2591. 2008
  43. ncbi request reprint Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)
    Martin Zenker
    Institute of Human Genetics, University of Erlangen Nuremberg, Schwabachanlage 10, 91054 Erlangen, Germany
    Nat Genet 37:1345-50. 2005
    ..Our findings indicate that deficiency of UBR1 perturbs the pancreas' acinar cells and other organs, presumably owing to metabolic stabilization of specific substrates of the N-end rule pathway...
  44. pmc Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3
    Bettina Lorenz-Depiereux
    Institute of Human Genetics, GSF National Research Center for Environment and Health, Munich Neuherberg, Germany
    Am J Hum Genet 78:193-201. 2006
    ..Identification of the gene mutated in a further form of hypophosphatemia adds to the understanding of phosphate homeostasis and may help to elucidate the interaction of the proteins involved in this pathway...
  45. pmc Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population
    Sharon Simchoni
    Medical Genetics Unit, Shaare Zedek Medical Center, Hebrew University Medical School, Jerusalem 91031, Israel
    Proc Natl Acad Sci U S A 103:3770-4. 2006
    ....
  46. ncbi request reprint Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers
    Joanne Kotsopoulos
    Centre for Research in Women s Health, Women s College Hospital, University of Toronto, Room 750, 790 Bay Street, 7th Floor, Toronto, ON M5G 1N8, Canada
    Breast Cancer Res Treat 105:221-8. 2007
    ..Nonetheless, BRCA mutation carriers opting for a prophylactic oophorectomy as a breast and/or ovarian cancer risk-reducing strategy should complete childbearing prior to age 40 when this prevention modality is most effective...
  47. ncbi request reprint Effect of pregnancy as a risk factor for breast cancer in BRCA1/BRCA2 mutation carriers
    Carey A Cullinane
    City of Hope National Medical Center, Duarte, CA, USA
    Int J Cancer 117:988-91. 2005
    ..Among BRCA2 carriers, increasing parity was associated with a significant increase in the risk of breast cancer before age 50 and this increase was greatest in the 2-year period following a pregnancy...
  48. ncbi request reprint Age at menarche and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers
    Joanne Kotsopoulos
    Centre for Research in Women s Health, University of Toronto, Women s College Hospital, 790 Bay Street, 7th Floor, Totonto, Ontario M5G 1N8, Canada
    Cancer Causes Control 16:667-74. 2005
    ..46; 95% CI 0.30-0.69). This study implicates early age at menarche as a determinant of breast cancer among women with a BRCA1 mutation...