Literature DB >> 601075

Genetic variants of Tay-Sachs disease: Tay-Sachs disease and Sandhoff's disease in French Canadians, juvenile Tay-Sachs disease in Lebanese Canadians, and a Tay-Sachs screening program in the French-Canadian population.

E Andermann, C R Scriver, L S Wolfe, L Dansky, F Andermann.   

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Year:  1977        PMID: 601075

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


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  19 in total

1.  The French Canadian Tay-Sachs disease deletion mutation: identification of probable founders.

Authors:  M De Braekeleer; P Hechtman; E Andermann; F Kaplan
Journal:  Hum Genet       Date:  1992-04       Impact factor: 4.132

Review 2.  The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.

Authors:  Gustavo H B Maegawa; Tracy Stockley; Michael Tropak; Brenda Banwell; Susan Blaser; Fernando Kok; Roberto Giugliani; Don Mahuran; Joe T R Clarke
Journal:  Pediatrics       Date:  2006-10-02       Impact factor: 7.124

3.  Gene encoding the human beta-hexosaminidase beta chain: extensive homology of intron placement in the alpha- and beta-chain genes.

Authors:  R L Proia
Journal:  Proc Natl Acad Sci U S A       Date:  1988-03       Impact factor: 11.205

4.  More than one mutant allele causes infantile Tay-Sachs disease in French-Canadians.

Authors:  P Hechtman; F Kaplan; J Bayleran; B Boulay; E Andermann; M de Braekeleer; S Melançon; M Lambert; M Potier; R Gagné
Journal:  Am J Hum Genet       Date:  1990-11       Impact factor: 11.025

5.  Selection in favor of lysosomal storage disorders?

Authors:  J Zlotogora; M Zeigler; G Bach
Journal:  Am J Hum Genet       Date:  1988-02       Impact factor: 11.025

6.  Incidence and carrier frequency of Sandhoff disease in Saskatchewan determined using a novel substrate with detection by tandem mass spectrometry and molecular genetic analysis.

Authors:  Braden Fitterer; Patricia Hall; Nick Antonishyn; Rajagopal Desikan; Michael Gelb; Denis Lehotay
Journal:  Mol Genet Metab       Date:  2014-01-13       Impact factor: 4.797

7.  Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England.

Authors:  B Triggs-Raine; M Richard; N Wasel; E M Prence; M R Natowicz
Journal:  Am J Hum Genet       Date:  1995-04       Impact factor: 11.025

8.  Identification and rapid detection of three Tay-Sachs mutations in the Moroccan Jewish population.

Authors:  L Drucker; R L Proia; R Navon
Journal:  Am J Hum Genet       Date:  1992-08       Impact factor: 11.025

9.  The presence of two different infantile Tay-Sachs disease mutations in a Cajun population.

Authors:  G A McDowell; E H Mules; P Fabacher; E Shapira; M G Blitzer
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025

Review 10.  Autosomal recessive disorders among Arabs: an overview from Kuwait.

Authors:  A S Teebi
Journal:  J Med Genet       Date:  1994-03       Impact factor: 6.318

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