(Q44621076)

English

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

scientific article published on January 1, 1992

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1387862

21 September 2022

nucleic acid sequence analysis

1 reference

based on heuristic

inferred from title

Tay-Sachs disease

1 reference

based on heuristic

inferred from title

DNA mutational analysis

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1387862

21 September 2022

genetic carrier screening

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1387862

21 September 2022

Charles R. Scriver

5

object named as

Scriver CR

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

author name string

M. J. Fernandes

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1387862

21 September 2022

F. Kaplan

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1387862

21 September 2022

C. L. Clow

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1387862

21 September 2022

P. Hechtman

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1387862

21 September 2022

C. R. Scriver

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1387862

21 September 2022

language of work or name

1 reference

National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1387862

21 September 2022

publication date

1 January 1992

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

Genetic Epidemiology

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

9

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

169-175

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

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

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.1370090303

21 January 2018

Synthesis of 4-methylumbelliferyl-beta-D-N-acetylglucosamine-6-sulfate and its use in classification of GM2 gangliosidosis genotypes.

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.1370090303

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.1370090303

21 January 2018

Advocacy and compliance in genetic screening. Behavior of physicians and clients in a voluntary program of testing for the Tay-Sachs gene.

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.1370090303

7 January 2021

based on heuristic

inferred from DOI database lookup

The application of an automated hexosaminidase assay to genetic screening

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.1370090303

7 January 2021

based on heuristic

inferred from DOI database lookup

The use of biochemical data in screening for mutant alleles and in genetic counselling

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.1370090303

7 January 2021

based on heuristic

inferred from DOI database lookup

Influence of ethanol on the human serum level of beta-hexosaminidase

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.1370090303

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.1370090303

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.1370090303

7 January 2021

based on heuristic

inferred from DOI database lookup

Different mutations in Ashkenazi Jewish and non-Jewish French Canadians with Tay-Sachs disease

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.1370090303

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.1370090303

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.1370090303

7 January 2021

based on heuristic

inferred from DOI database lookup

Fine assignment of beta-hexosaminidase A alpha-subunit on 15q23-q24 by high resolution in situ hybridization

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.1370090303

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FGEPI.1370090303

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/GEPI.1370090303

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 December 2017

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