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References (15)
-
S. Bressman, D. Leon, P. Kramer, L. Ozelius, M. Brin, P. Greene, S. Fahn, X. Breakefield, N. Risch (1994)
Dystonia in Ashkenazi Jews: Clinical characterization of a founder mutationAnnals of Neurology, 36
-
A. Nemeth (2002)
The genetics of primary dystonias and related disorders.Brain : a journal of neurology, 125 Pt 4
-
J. Charrow, H. Andersson, P. Kaplan, E. Kolodny, P. Mistry, G. Pastores, A. Prakash-Cheng*, B. Rosenbloom, C. Scott, R. Wappner, N. Weinreb (2004)
Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations.The Journal of pediatrics, 144 1
-
RA Gravel, MM Kaback, RL Proia (2001)
The Metabolic and Molecular Basis of Inherited Disease -
J. Ekstein, H. Katzenstein (2001)
The Dor Yeshorim story: community-based carrier screening for Tay-Sachs disease.Advances in genetics, 44
-
A. Stern, H. Markel (2004)
A historical perspective on the changing contours of medical residency programs.The Journal of pediatrics, 144 1
-
S. Bressman, D. Leon, P. Kramer (1995)
Erratum: Dystonia in Ashkenazi Jews: Clinical characterization of a founder mutation (Annals of Neurology (1994) 36 (771-777))Annals of Neurology, 37
-
R. Lachmann (2003)
Miglustat. Oxford GlycoSciences/Actelion.Current opinion in investigational drugs, 4 4
-
AC. Allison (1954)
Protection afforded by sickle cell trait against subtertian malarial infectionBMJ, i
-
M. Jeyakumar, T. Butters, M. Cortina-Borja, V. Hunnam, R. Proia, V. Perry, R. Dwek, F. Platt (1999)
Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin.Proceedings of the National Academy of Sciences of the United States of America, 96 11
-
A. Allison (1954)
Protection Afforded by Sickle-cell Trait Against Subtertian Malarial InfectionBritish Medical Journal, 1
-
(1966)
Enzyme polymorphisms in man -
G. Grabowski (1993)
Gaucher disease. Enzymology, genetics, and treatment.Advances in human genetics, 21
-
GA. Grabowski (1993)
Advances in Human Genetics -
M Jeyakumar, TD Butters, M Cortina-Borja (1999)
Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycinProc Natl Acad Sci USA, 96
- Publisher
- Springer Journals
- Copyright
- Copyright © 2004 by Kluwer Academic Publishers
- Subject
- Biomedicine; Cancer Research; Human Genetics; Epidemiology; Biomedicine, general
- ISSN
- 1389-9600
- eISSN
- 1573-7292
- DOI
- 10.1007/s10689-004-9545-z
- pmid
- 15516842
- Publisher site
- See Article on Publisher Site
Abstract
The frequency of several genes responsible for "single-gene" disorders and disease predispositions is higher among Ashkenazi Jews than among Sephardi Jews and non-Jews. The disparity is most likely the result of founder effect and genetic drift, rather than heterozygote advantage. The more common Mendelian Ashkenazi Jewish genetic disorders are summarized, and examples of variable expressivity and penetrance, inconsistent genotype–phenotype correlation, and potential modifiers are presented. The importance of genetic counseling in both the pre- and post-test phases of population screening is emphasized.
Journal
Familial Cancer – Springer Journals
Published: Dec 30, 2004