Tzipora C Falik-Zaccai

Summary

Country: Israel

Publications

  1. 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
  2. ncbi request reprint The versatile DNA nucleotide excision repair (NER) and its medical significance
    Tzipora C Falik-Zaccai
    Institute of Human Genetics, Western Galilee Hospital, Naharia, Israel
    Pediatr Endocrinol Rev 7:37-42. 2009
  3. ncbi request reprint [Clinical, biochemical and molecular characterization of rare genetic disorders, related to nucleotide excision repair (NER) system]
    Tzipora Falik-Zaccai
    Institute of Human Genetics, Western Galilee Hospital, Naharia, Israel
    Harefuah 145:889-94, 942. 2006
  4. ncbi request reprint [Prenatal diagnosis for chromosomal abnormality: time to change the Israeli policy]
    Tzipora Falik-Zaccai
    Institute of Human Genetics, Western Galilee Hospital Naharia, Israel
    Harefuah 145:916-22, 940. 2006
  5. doi request reprint Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6
    Tzipora C Falik-Zaccai
    Institute of Medical Genetics, Western Galilee Hospital, Nahariya, Israel
    Am J Med Genet A 146:1423-9. 2008
  6. doi request reprint Population screening in a Druze community: the challenge and the reward
    Tzipora C Falik-Zaccai
    Institute of Human Genetics, Western Galilee Hospital Nahariya, Israel
    Genet Med 10:903-9. 2008
  7. doi request reprint A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity
    Tzipora C Falik-Zaccai
    Institute of Human Genetics, Western Galilee Hospital, Naharia, Israel
    Environ Mol Mutagen 53:505-14. 2012
  8. doi request reprint A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis
    Yifat Zivony-Elboum
    Institute of Human Genetics, Western Galilee Hospital Naharia, Israel
    J Med Genet 49:462-72. 2012
  9. doi request reprint PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism
    Morad Khayat
    Institute of Medical Genetics, Western Galilee Hospital, Nahariya, P O Box 21, 22100 Nahariya, Israel
    Mol Genet Metab 94:431-4. 2008
  10. ncbi request reprint Unusual presentation of familial glucocorticoid deficiency with a novel MRAP mutation
    Dalit Modan-Moses
    Pediatric Endocrinology Unit, Division of Pediatrics, Chaim Sheba Medical Center, Tel Hashomer 52621, Israel
    J Clin Endocrinol Metab 91:3713-7. 2006

Collaborators

Detail Information

Publications13

  1. 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
    ....
  2. ncbi request reprint The versatile DNA nucleotide excision repair (NER) and its medical significance
    Tzipora C Falik-Zaccai
    Institute of Human Genetics, Western Galilee Hospital, Naharia, Israel
    Pediatr Endocrinol Rev 7:37-42. 2009
    ..Identification of the causative genes and proteins in affected families in Israel allowed us to establish accurate molecular diagnosis of couples at risk, and provide them with better genetic counseling...
  3. ncbi request reprint [Clinical, biochemical and molecular characterization of rare genetic disorders, related to nucleotide excision repair (NER) system]
    Tzipora Falik-Zaccai
    Institute of Human Genetics, Western Galilee Hospital, Naharia, Israel
    Harefuah 145:889-94, 942. 2006
    ..Identification of the causative genes and proteins in suspected families will facilitate accurate diagnosis, genetic counseling, identification of couples at risk and prenatal diagnosis...
  4. ncbi request reprint [Prenatal diagnosis for chromosomal abnormality: time to change the Israeli policy]
    Tzipora Falik-Zaccai
    Institute of Human Genetics, Western Galilee Hospital Naharia, Israel
    Harefuah 145:916-22, 940. 2006
    ..This would achieve better and safer prevention acceptable to a wide spectrum of ethnicities, religions and cultures in Israeli society, at a reasonable cost to the public health system in Israel...
  5. doi request reprint Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6
    Tzipora C Falik-Zaccai
    Institute of Medical Genetics, Western Galilee Hospital, Nahariya, Israel
    Am J Med Genet A 146:1423-9. 2008
    ..Identification of the causative mutation enables comprehensive genetic counseling among the population at risk from this village...
  6. doi request reprint Population screening in a Druze community: the challenge and the reward
    Tzipora C Falik-Zaccai
    Institute of Human Genetics, Western Galilee Hospital Nahariya, Israel
    Genet Med 10:903-9. 2008
    ..The aims of this study were to identify couples at risk for four inherited diseases, and to prevent birth defects in a community presenting religious and cultural obstacles to genetic testing...
  7. doi request reprint A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity
    Tzipora C Falik-Zaccai
    Institute of Human Genetics, Western Galilee Hospital, Naharia, Israel
    Environ Mol Mutagen 53:505-14. 2012
    ..R683Q allele. This study illustrates the importance of detailed follow up with sun sensitive individuals, to ensure appropriate prophylaxis and to understand the mechanistic basis of the implicated hereditary disease...
  8. doi request reprint A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis
    Yifat Zivony-Elboum
    Institute of Human Genetics, Western Galilee Hospital Naharia, Israel
    J Med Genet 49:462-72. 2012
    ..Members of two seemingly unrelated kindreds of Arab Moslem origin presented with pronounced early onset spastic paraparesis of upper and lower limbs, mild intellectual disability, kyphosis, pectus carinatum and hypertrichosis...
  9. doi request reprint PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism
    Morad Khayat
    Institute of Medical Genetics, Western Galilee Hospital, Nahariya, P O Box 21, 22100 Nahariya, Israel
    Mol Genet Metab 94:431-4. 2008
    ..This finding enabled molecular prenatal diagnosis in a subsequent pregnancy, accurate genetic counseling in the large inbred family, and population screening...
  10. ncbi request reprint Unusual presentation of familial glucocorticoid deficiency with a novel MRAP mutation
    Dalit Modan-Moses
    Pediatric Endocrinology Unit, Division of Pediatrics, Chaim Sheba Medical Center, Tel Hashomer 52621, Israel
    J Clin Endocrinol Metab 91:3713-7. 2006
    ..Mutations in MRAP, an interacting partner of the ACTH receptor, have been shown recently to cause familial glucocorticoid deficiency (FGD) in kindreds with confirmed FGD and no ACTH receptor mutations...
  11. ncbi request reprint Cerebrotendinous xanthomatosis (CTX): a treatable lipid storage disease
    Zohar Keren
    Institute of Human Genetics, Western Galilee Hospital, Naharia, Israel
    Pediatr Endocrinol Rev 7:6-11. 2009
    ..In this review we would like to familiarize the reader with this fatal inborn error of metabolism that is possibly under-diagnosed and is preventable once recognized and treated...
  12. ncbi request reprint Use of a cDNA microarray to determine molecular mechanisms involved in grey platelet syndrome
    Tehila Hyman
    Laboratory of Cellular Carcinogenesis and Tumor Promotion, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Br J Haematol 122:142-9. 2003
    ....
  13. ncbi request reprint Coronary heart disease among Circassians in Israel is not associated with mutations in thrombophilia genes
    Tzipora C Falik-Zaccai
    Simon Winter Institute for Human Genetics, Bnai Zion Medical Center, and Bruce Rappaport Faculty of Medicine, Technion Israel Institute of Technology, Haifa, Israel
    Hum Biol 75:57-68. 2003
    ..The high prevalence of CVD among Circassians was found to be etiologically unrelated to the three mutations studied in the genes for factor V, MTHFR, and prothrombin...