(Q33932685)

30 July 2017

title

Tay-Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure. (English)

1 reference

30 July 2017

Bach G

1

1 reference

30 July 2017

Tomczak J

series ordinal

2

1 reference

30 July 2017

Risch N

series ordinal

3

1 reference

30 July 2017

Ekstein J

series ordinal

4

1 reference

30 July 2017

publication date

1 February 2001

1 reference

American Journal of Medical Genetics Part A

30 July 2017

published in

1 reference

30 July 2017

volume

99

1 reference

30 July 2017

issue

1

1 reference

30 July 2017

page(s)

70-75

1 reference

Identification of an altered splice site in Ashkenazi Tay-Sachs disease

30 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010215%2999%3A1%3C70%3A%3AAID-AJMG1120%3E3.0.CO%3B2-0

Screening for carriers of Tay-Sachs disease in the ultraorthodox Ashkenazi Jewish community in Israel.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010215%2999%3A1%3C70%3A%3AAID-AJMG1120%3E3.0.CO%3B2-0

Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of Tay-Sachs disease gene carriers among Ashkenazic Jews

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010215%2999%3A1%3C70%3A%3AAID-AJMG1120%3E3.0.CO%3B2-0

Comparison of enzyme and DNA analysis in a Tay-Sachs disease carrier screening program

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010215%2999%3A1%3C70%3A%3AAID-AJMG1120%3E3.0.CO%3B2-0

Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010215%2999%3A1%3C70%3A%3AAID-AJMG1120%3E3.0.CO%3B2-0

Frequency of the Tay-Sachs disease splice and insertion mutations in the UK Ashkenazi Jewish population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010215%2999%3A1%3C70%3A%3AAID-AJMG1120%3E3.0.CO%3B2-0

Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010215%2999%3A1%3C70%3A%3AAID-AJMG1120%3E3.0.CO%3B2-0

Tay-sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010215%2999%3A1%3C70%3A%3AAID-AJMG1120%3E3.0.CO%3B2-0

Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010215%2999%3A1%3C70%3A%3AAID-AJMG1120%3E3.0.CO%3B2-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010215%2999%3A1%3C70%3A%3AAID-AJMG1120%3E3.0.CO%3B2-0

Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010215%2999%3A1%3C70%3A%3AAID-AJMG1120%3E3.0.CO%3B2-0

Heterozygote screening for Tay-Sachs disease: past successes and future challenges.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010215%2999%3A1%3C70%3A%3AAID-AJMG1120%3E3.0.CO%3B2-0

The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010215%2999%3A1%3C70%3A%3AAID-AJMG1120%3E3.0.CO%3B2-0

10.1002/1096-8628(20010215)99:1<70::AID-AJMG1120>3.0.CO;2-0

21 January 2018

Identifiers

DOI

1 reference

30 July 2017

1 reference