Tay-Sachs disease: current perspectives from Australia (Q35024221)

5 August 2017

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title

Tay-Sachs disease: current perspectives from Australia (English)

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5 August 2017

0 references

1 reference

Martin B Delatycki

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5 August 2017

Raelia M Lew

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5 August 2017

Leslie Burnett

series ordinal

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5 August 2017

Anné L Proos

series ordinal

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5 August 2017

publication date

21 January 2015

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The Application of Clinical Genetics

5 August 2017

published in

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5 August 2017

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5 August 2017

page(s)

19-25

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Creative Commons Attribution-NonCommercial 3.0 Unported

5 August 2017

start time

1 January 2015

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April 2022 Public Data File from Crossref

copyrighted

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cites work

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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 Afr

8 July 2018

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Carrier testing for autosomal-recessive disorders

8 July 2018

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Variation of beta-N-acetylhexosaminidase-pattern in Tay-Sachs disease

8 July 2018

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The frequency of founder mutations in the BRCA1, BRCA2, and APC genes in Australian Ashkenazi Jews: implications for the generality of U.S. population data

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8 July 2018

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Tay-Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure

8 July 2018

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Twenty-year outcome analysis of genetic screening programs for Tay-Sachs and beta-thalassemia disease carriers in high schools

8 July 2018

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

8 July 2018

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8 July 2018

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Tay-Sachs Disease: Generalized Absence of a Beta-D- N -Acetylhexosaminidase Component

8 July 2018

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8 July 2018

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Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group

8 July 2018

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

8 July 2018

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The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase

8 July 2018

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A splicing defect due to an exon-intron junctional mutation results in abnormal beta-hexosaminidase alpha chain mRNAs in Ashkenazi Jewish patients with Tay-Sachs disease

8 July 2018

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

8 July 2018

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A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening

8 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309774

A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309774

Current practice and attitudes of Australian obstetricians toward population-based carrier screening for inherited conditions.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309774

Tay Sachs disease in Australia: reduced disease incidence despite stable carrier frequency in Australian Jews

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309774

Population-based Tay-Sachs screening among Ashkenazi Jewish young adults in the 21st century: Hexosaminidase A enzyme assay is essential for accurate testing.

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309774

A genetic screening programme for Tay-Sachs disease and cystic fibrosis for Australian Jewish high school students.

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309774

Tay-Sachs disease carrier screening: a 21-year experience.

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309774

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

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309774

Evidence for two different active sites on human beta-hexosaminidase A. Interaction of GM2 activator protein with beta-hexosaminidase A.

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4309774

Evaluation of a Tay-Sachs disease screening program

25 October 2018

1 reference

12 December 2020

Genetic screening for reproductive purposes at school: is it a good strategy?

1 reference

12 December 2020

Genetic services in Israel

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12 December 2020

Technical standards and guidelines for reproductive screening in the Ashkenazi Jewish population

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12 December 2020

PCR analysis of hair root specimens to detect Tay-Sachs disease carriers in Ashkenazi Jews

1 reference

12 December 2020

Cost-effectiveness of a school-based Tay-Sachs and cystic fibrosis genetic carrier screening program

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12 December 2020

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

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12 December 2020

Identifiers

DOI

10.2147/TACG.S49628

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5 August 2017

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5 August 2017

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