Literature DB >> 601074

Tay-Sachs disease: heterozygote screening and prenatal diagnosis--U.S. experience and world perspective.

M M Kaback, T J Nathan, S Greenwald.   

Abstract

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Year:  1977        PMID： 601074

Source DB:  PubMed          Journal:  Prog Clin Biol Res        ISSN： 0361-7742


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  8 in total

Review 1.  Genetic screening.

Authors:  Wylie Burke; Beth Tarini; Nancy A Press; James P Evans
Journal:  Epidemiol Rev       Date:  2011-06-27       Impact factor: 6.222

2.  Tay-Sachs disease preconception screening in Australia: self-knowledge of being an Ashkenazi Jew predicts carrier state better than does ancestral origin, although there is an increased risk for c.1421 + 1G > C mutation in individuals with South African heritage.

Authors:  Raelia Lew; Leslie Burnett; Anné Proos
Journal:  J Community Genet       Date:  2011-07-15

3.  Prevalence of Canavan disease heterozygotes in the New York metropolitan Ashkenazi Jewish population.

Authors:  D Kronn; C Oddoux; J Phillips; H Ostrer
Journal:  Am J Hum Genet       Date:  1995-11       Impact factor: 11.025

Review 4.  Ganglioside storage diseases: an updated review.

Authors:  J S O'Brien
Journal:  Ital J Neurol Sci       Date:  1981-08

5.  Synthesis of beta-hexosaminidase in cell-free translation and in intact fibroblasts: an insoluble precursor alpha chain in a rare form of Tay-Sachs disease.

Authors:  R L Proia; E F Neufeld
Journal:  Proc Natl Acad Sci U S A       Date:  1982-10       Impact factor: 11.205

6.  An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds.

Authors:  B McInnes; M Potier; N Wakamatsu; S B Melancon; M H Klavins; S Tsuji; D J Mahuran
Journal:  J Clin Invest       Date:  1992-08       Impact factor: 14.808

7.  Antenatal screening for cystic fibrosis: a trial of the couple model.

Authors:  J Livingstone; R A Axton; A Gilfillan; M Mennie; M Compton; W A Liston; A A Calder; A J Gordon; D J Brock
Journal:  BMJ       Date:  1994-06-04

8.  Metachromatic leukodystrophy in the habbanite Jews: high frequency in a genetic isolate and screening for heterozygotes.

Authors:  J Zlotogora; G Bach; Y Barak; E Elian
Journal:  Am J Hum Genet       Date:  1980-09       Impact factor: 11.025
  8 in total

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