(Q34333094)

1 August 2017

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title

Prenatal genetic screening in the Ashkenazi Jewish population (English)

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1 August 2017

Zinberg RE

1

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1 August 2017

Kornreich R

series ordinal

2

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1 August 2017

Edelmann L

series ordinal

3

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1 August 2017

Desnick RJ

series ordinal

4

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1 August 2017

publication date

1 June 2001

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1 August 2017

published in

Clinics in Perinatology

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1 August 2017

volume

28

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1 August 2017

issue

2

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1 August 2017

page(s)

367-382

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Familial dysautonomia is caused by mutations of the IKAP gene

1 August 2017

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

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7 January 2021

Fanconi anemia: genetic testing in Ashkenazi Jews

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7 January 2021

Identification of the gene causing mucolipidosis type IV.

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Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV

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7 January 2021

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

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Population-specific screening by mutation analysis for diseases frequent in Ashkenazi Jews

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First-trimester biochemical and molecular diagnoses using chorionic villi: high accuracy in the U.S. collaborative study

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7 January 2021

Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations

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Preimplantation genetic diagnosis principles and ethics.

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Enzyme therapy for Gaucher disease: the first 5 years

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Perspectives in genetic screening. Principles and implications

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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

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Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population

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

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

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Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain

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cDNA clone for the alpha-chain of human beta-hexosaminidase: deficiency of alpha-chain mRNA in Ashkenazi Tay-Sachs fibroblasts

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Adult GM2 gangliosidosis in association with Tay-Sachs disease: a new phenotype

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7 January 2021

Mucolipidosis type IV: the origin of the disease in the Ashkenazi Jewish population

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7 January 2021

Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population

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7 January 2021

Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia

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7 January 2021

Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel

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7 January 2021

Detection of Tay-Sachs disease heterozygotes by assay of hexosaminidase A in serum and leukocytes

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Chorionic villi sampling for early prenatal diagnosis: an option for the Jewish orthodox community.

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7 January 2021

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Identifiers

DOI

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1 August 2017

1 reference