Joel Zlotogora

Summary

Affiliation: The Hebrew University
Country: Israel

Publications

  1. ncbi request reprint Genetic disorders among Palestinian Arabs. 4: Genetic clinics in the community
    Joel Zlotogora
    Department of Genetic Community, Public Health Services, Health Ministry Israel and Hebrew University, Jerusalem, Israel
    Am J Med Genet A 140:1644-6. 2006
  2. ncbi request reprint Origin and expansion of four different beta globin mutations in a single Arab village
    Joel Zlotogora
    Department of Community Genetics, Public Health Services, Health Ministry and Hebrew University, Jerusalem, Israel
    Am J Hum Biol 17:659-61. 2005
  3. ncbi request reprint Multiple mutations responsible for frequent genetic diseases in isolated populations
    Joel Zlotogora
    Department of Genetic Community, Public Health Services, Health Ministry and Hebrew University, Jerusalem, Israel
    Eur J Hum Genet 15:272-8. 2007
  4. ncbi request reprint Screening for genetic disorders among Jews: how should the Tay-Sachs screening program be continued?
    J Zlotogora
    Public Health Services, Ministry of Health, Jerusalem, Israel
    Isr Med Assoc J 2:665-7. 2000
  5. ncbi request reprint High incidence of deafness from three frequent connexin 26 mutations in an isolated community
    Joel Zlotogora
    Department of Genetic Community, Public Health Services, Health Ministry Israel and Hebrew University, Jerusalem, Israel
    Genet Test 10:40-3. 2006
  6. doi request reprint The consequences of consanguinity on the rates of malformations and major medical conditions at birth and in early childhood in inbred populations
    Joel Zlotogora
    Department of Community Genetic, Public Health Services, and Hebrew University, Jerusalem, Israel
    Am J Med Genet A 152:2023-8. 2010
  7. ncbi request reprint The fate of 12 recessive mutations in a single village
    J Zlotogora
    Department of Genetic Community Public Health Services, Health Ministry and Hebrew University Jerusalem, Israel
    Ann Hum Genet 71:202-8. 2007
  8. ncbi request reprint The Israeli National Genetic Database
    Joel Zlotogora
    Department of Community Genetics, Public Health Services, Ministry of Health, Jerusalem, Israel
    Isr Med Assoc J 11:373-5. 2009
  9. ncbi request reprint Utilization of prenatal diagnosis and termination of pregnancies for the prevention of Down syndrome in Israel
    Joel Zlotogora
    Public Health Services and Department of Health Information, Ministry of Health, Tel Hashomer, Israel
    Isr Med Assoc J 9:600-2. 2007
  10. doi request reprint Population programs for the detection of couples at risk for severe monogenic genetic diseases
    Joel Zlotogora
    Department of Community Genetics, Public Health Services, Ministry of Health, Building 67, Sheba Medical Center, Ramat Gan, Israel
    Hum Genet 126:247-53. 2009

Collaborators

Detail Information

Publications28

  1. ncbi request reprint Genetic disorders among Palestinian Arabs. 4: Genetic clinics in the community
    Joel Zlotogora
    Department of Genetic Community, Public Health Services, Health Ministry Israel and Hebrew University, Jerusalem, Israel
    Am J Med Genet A 140:1644-6. 2006
    ..The presence of a genetic counselor in the village clinic allows for better and closer contacts with the family physician...
  2. ncbi request reprint Origin and expansion of four different beta globin mutations in a single Arab village
    Joel Zlotogora
    Department of Community Genetics, Public Health Services, Health Ministry and Hebrew University, Jerusalem, Israel
    Am J Hum Biol 17:659-61. 2005
    ..The sickle-cell mutation became particularly prevalent in the village as the result of a founder effect due to a preference for consanguineous marriages...
  3. ncbi request reprint Multiple mutations responsible for frequent genetic diseases in isolated populations
    Joel Zlotogora
    Department of Genetic Community, Public Health Services, Health Ministry and Hebrew University, Jerusalem, Israel
    Eur J Hum Genet 15:272-8. 2007
    ..Although each of these possibilities may be responsible for a few of the cases, in most they are very improbable explanations. A selective advantage may explain most of the observations even if it is difficult to prove...
  4. ncbi request reprint Screening for genetic disorders among Jews: how should the Tay-Sachs screening program be continued?
    J Zlotogora
    Public Health Services, Ministry of Health, Jerusalem, Israel
    Isr Med Assoc J 2:665-7. 2000
    ..We also propose that general screening include only mutations that are relatively frequent, taking into account the carrier frequencies in the Israeli Jewish population...
  5. ncbi request reprint High incidence of deafness from three frequent connexin 26 mutations in an isolated community
    Joel Zlotogora
    Department of Genetic Community, Public Health Services, Health Ministry Israel and Hebrew University, Jerusalem, Israel
    Genet Test 10:40-3. 2006
    ..4%), or V37I (4.8%). The three mutations appeared in the village approximately 100-150 years ago. The question of why three distinct mutations of similar age are observed at high frequency within a genetic isolate is discussed...
  6. doi request reprint The consequences of consanguinity on the rates of malformations and major medical conditions at birth and in early childhood in inbred populations
    Joel Zlotogora
    Department of Community Genetic, Public Health Services, and Hebrew University, Jerusalem, Israel
    Am J Med Genet A 152:2023-8. 2010
    ..The high prevalence of profound deafness in the village is due to mutations in the Connexin 26 gene, while the relatively high frequency of Down syndrome is not explained by maternal age only...
  7. ncbi request reprint The fate of 12 recessive mutations in a single village
    J Zlotogora
    Department of Genetic Community Public Health Services, Health Ministry and Hebrew University Jerusalem, Israel
    Ann Hum Genet 71:202-8. 2007
    ..In the case of those frequent ancient mutations, the risk for a relative of an affected individual will be similar whether he marries a close relative or any random individual in the village...
  8. ncbi request reprint The Israeli National Genetic Database
    Joel Zlotogora
    Department of Community Genetics, Public Health Services, Ministry of Health, Jerusalem, Israel
    Isr Med Assoc J 11:373-5. 2009
    ..org/israeli is a continuously updated depository on monogenic genetic disorders that are present in the various Israeli populations. It provides the means of obtaining information for clinical purposes, genetic counseling and research...
  9. ncbi request reprint Utilization of prenatal diagnosis and termination of pregnancies for the prevention of Down syndrome in Israel
    Joel Zlotogora
    Public Health Services and Department of Health Information, Ministry of Health, Tel Hashomer, Israel
    Isr Med Assoc J 9:600-2. 2007
    ..However, despite the program, the majority of Down syndrome infants are born alive (approximately 1/1000 live births)...
  10. doi request reprint Population programs for the detection of couples at risk for severe monogenic genetic diseases
    Joel Zlotogora
    Department of Community Genetics, Public Health Services, Ministry of Health, Building 67, Sheba Medical Center, Ramat Gan, Israel
    Hum Genet 126:247-53. 2009
    ..Some programs, for instance in Canada or Australia, therefore provide education about genetic tests and screening at school in order to allow the individuals to be able to make an informed decision about their reproductive choices...
  11. doi request reprint The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel
    Joel Zlotogora
    Department of Community Genetics, Public Health Services, Ministry of Health Israel, Building 67, Sheba Medical Center, Tel Hashomer, 52621 Ramat Gan, Israel
    Hum Genet 128:473-9. 2010
    ..While it is probable that most of these cases represent random events in some cases such as Bardet Biedl among the Bedouins, the reason may be a selective advantage to the heterozygotes...
  12. ncbi request reprint Parents of children with autosomal recessive diseases are not always carriers of the respective mutant alleles
    Joel Zlotogora
    Department of Community Genetics, Public Health Services, Ministry of Health, Tel Aviv, Israel
    Hum Genet 114:521-6. 2004
    ..In order to give accurate genetic counselling, in particular when prenatal diagnosis is envisaged, molecular analysis of each of the parents of a child affected with an autosomal recessive disease must be routinely performed...
  13. ncbi request reprint Molecular basis of autosomal recessive diseases among the Palestinian Arabs
    Joel Zlotogora
    Department of Community Genetics, Public Health Services, Ministry of Health Israel, Ramat Gan, Israel
    Am J Med Genet 109:176-82. 2002
    ..This phenomenon remains unexplained but may be secondary to a selective advantage to the carriers, either specific to the region or to the population...
  14. ncbi request reprint Changing family structure in a modernizing society: a study of marriage patterns in a single Muslim village in Israel
    J Zlotogora
    Department of Community Genetics, Ministry of Health, Ramat Gan, Israel
    Am J Hum Biol 14:680-2. 2002
    ..However, these data demonstrate that the tradition of marrying a relative remains central, although some changes in marriage preference have occurred...
  15. ncbi request reprint Surveillance of neural tube defects in Israel
    Joel Zlotogora
    Department of Community Genetics, Public Health Services, Ministry of Health, Sheba Medical Center, Tel Hashomer, Israel
    Isr Med Assoc J 4:1111-4. 2002
    ..The dramatic effect of folic acid for primary prevention of these defects led to recommendations for folic acid supplementation in women of reproductive age...
  16. ncbi request reprint The impact of congenital malformations and Mendelian diseases on infant mortality in Israel
    Joel Zlotogora
    Public Health Services, Ministry of Health, Tel Hashomer, Israel
    Isr Med Assoc J 5:416-8. 2003
    ..Infant mortality in Israel is twofold higher among non-Jews than Jews...
  17. ncbi request reprint High incidence of profound deafness in an isolated community
    Joel Zlotogora
    Department of Genetic Community, Public Health Services, Ministry of Health, Sheba Medical Services, Ramat Gan, Israel
    Genet Test 7:143-5. 2003
    ..However, all of them are problematic. Therefore, as a first step it was decided to begin a program including individual genetic counseling together with education of the entire population on practical aspects of human genetics...
  18. ncbi request reprint Relative prevalence of malformations at birth among different religious communities in Israel
    Joel Zlotogora
    Ministry of Health, Jerusalem, Israel
    Am J Med Genet A 122:59-62. 2003
    ..Analysis of the differences in the rate of malformations at birth in different communities is important for Public Health planning. It may also help to delineate causes and serve as the basis for research...
  19. ncbi request reprint The impact of prenatal diagnosis and termination of pregnancy on the relative incidence of malformations at birth among Jews and Muslim Arabs in Israel
    Joel Zlotogora
    Ministry of Health, Jerusalem, Israel
    Isr Med Assoc J 12:539-42. 2010
    ..As a result, in many cases the incidence of malformations at birth does not represent their true incidence...
  20. pmc A targeted population carrier screening program for severe and frequent genetic diseases in Israel
    Joel Zlotogora
    Department of Community Genetics, Public Health Services, Ministry of Health and the Hebrew University Jerusalem, Tel Hashomer, Ramat Gan, Israel
    Eur J Hum Genet 17:591-7. 2009
    ..The community program directed toward couples in their reproductive period does not seem to have led to stigmatization at either the individual or the community level...
  21. ncbi request reprint Documentation of inherited disorders and mutation frequencies in the different religious communities in Israel in the Israeli National Genetic Database
    Joel Zlotogora
    Department of Community Genetics, Public Health Services, Ministry of Health, Ramat Gan, Israel
    Hum Mutat 28:944-9. 2007
    ..The Israeli NEMDB is a useful user-friendly and extendable online resource for genetic services in Israel, while the modified version of the ETHNOS software can be particularly useful for similar projects in other populations...
  22. ncbi request reprint Parental decisions to abort or continue a pregnancy with an abnormal finding after an invasive prenatal test
    Joel Zlotogora
    Department of Community Genetics, Public Health Services, Ministry of Health, Jerusalem, Israel
    Prenat Diagn 22:1102-6. 2002
    ..To determine the importance of various factors on the decisions whether to terminate or continue a pregnancy after an abnormal result...
  23. ncbi request reprint Surveillance of neural tube defects in Israel: the effect of the recommendation for periconceptional folic acid
    Joel Zlotogora
    Dept of Community Genetics, Sheba Medical Center, Public Health Services, Ministry of Health, Tel Hashomer, Israel
    Isr Med Assoc J 8:601-4. 2006
    ..4 mg folic acid supplement for all women in their childbearing years with special emphasis on the 3 months preceding conception and the first trimester of pregnancy...
  24. ncbi request reprint Misleading findings of homozygosity mapping resulting from three novel mutations in NPHS1 encoding nephrin in a highly inbred community
    Yaacov Frishberg
    Division of Pediatric Nephrology, Shaare Zedek Medical Center, Jerusalem, Israel
    Genet Med 9:180-4. 2007
    ..The aim of this study was to confirm that the NPHS1 gene is responsible for congenital nephrotic syndrome in our population, applying homozygosity mapping...
  25. ncbi request reprint Genetic screening for reproductive purposes at school: is it a good strategy?
    Ayala Frumkin
    Department of Human Genetics, Hadassah Hebrew University Hospital, Jerusalem, Israel
    Am J Med Genet A 146:264-9. 2008
    ..This may allow the students to decide when and where to have a genetic test...
  26. doi request reprint Genetic screening for Krabbe disease: learning from the past and looking to the future
    Michal Macarov
    Department of Human Genetics and Metabolic Diseases, Hadassah, Hebrew University Hospital, Jerusalem, Israel
    Am J Med Genet A 155:574-6. 2011
    ..The screening program and prenatal diagnosis have led to a decrease in the incidence of Krabbe disease from 1.6 per 1,000 live births to 0.82 per 1,000...
  27. ncbi request reprint Penetrance and expressivity in the molecular age
    Joel Zlotogora
    Department of Community Genetics, Public Health Services, Ministry of Health, Israel
    Genet Med 5:347-52. 2003
    ..quot; In both cases genetic and/or environmental factors are acting in a complex way...
  28. ncbi request reprint Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy
    Israela Lerer
    Department of Human Genetics, Hadassah Hebrew University Hospital and Medical School, Jerusalem, Israel
    Hum Mol Genet 14:3911-20. 2005
    ..This unique family demonstrates a phenomenon of a deletion that creates imprinting-like inheritance. The implication of this family to sporadic CP is discussed...