(Q30227504)

20 August 2017

Development of genomic DNA reference materials for genetic testing of disorders common in people of Ashkenazi jewish descent (English)

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20 August 2017

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Lisa Kalman

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20 August 2017

Jean Amos Wilson

2

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20 August 2017

Arlene Buller

3

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20 August 2017

John Dixon

4

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20 August 2017

Lisa Edelmann

5

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20 August 2017

Louis Geller

6

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20 August 2017

William Edward Highsmith

7

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20 August 2017

Leonard Holtegaard

8

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20 August 2017

Ruth Kornreich

9

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20 August 2017

Elizabeth M Rohlfs

10

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20 August 2017

Toby L Payeur

11

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20 August 2017

Tina Sellers

12

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20 August 2017

Lorraine Toji

13

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20 August 2017

Kasinathan Muralidharan

14

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20 August 2017

8 October 2009

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The Journal of Molecular Diagnostics

20 August 2017

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20 August 2017

11

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20 August 2017

6

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20 August 2017

530-536

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describes a project that uses

20 August 2017

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Development of genomic reference materials for cystic fibrosis genetic testing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765751

Carrier screening in individuals of Ashkenazi Jewish descent

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765751

Developing a sustainable process to provide quality control materials for genetic testing

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765751

Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765751

DNA-based carrier screening in the Ashkenazi Jewish population

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765751

Quality Assurance in Human Molecular Genetics Testing: Status and Recommendations

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765751

Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765751

Experiences in molecular-based prenatal screening for Ashkenazi Jewish genetic diseases

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765751

Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765751

Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765751

Alpha1-antitrypsin deficiency: epidemiology and prevalence

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765751

Molecular basis of mendelian disorders among Jews

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765751

Canavan disease: diagnosis and molecular analysis

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765751

Niemann-Pick disease: mutation update, genotype/phenotype correlations, and prospects for genetic testing

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765751

Comparison of the clinical manifestations of cystic fibrosis in black and white patients

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765751

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765751

Canavan disease: mutations among Jewish and non-Jewish patients

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765751

Carrier frequency of the IVS4 + 4 A-->T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765751

A simple salting out procedure for extracting DNA from human nucleated cells

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765751

Sequence of two alleles responsible for Gaucher disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765751

Bloom syndrome and Fanconi's anemia: rate and ethnic origin of mutation carriers in Israel

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765751

Laboratory standards and guidelines for population-based cystic fibrosis carrier screening

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765751

Successful transformation of cryopreserved lymphocytes: a resource for epidemiological studies

26 November 2018

1 reference

12 December 2020

ACOG committee opinion. Number 298, August 2004. Prenatal and preconceptional carrier screening for genetic diseases in individuals of Eastern European Jewish descent

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12 December 2020

Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population

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12 December 2020

Molecular screening for diseases frequent in Ashkenazi Jews: lessons learned from more than 100,000 tests performed in a commercial laboratory

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12 December 2020

A simplified procedure for developing multiplex PCRs

1 reference

12 December 2020

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

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12 December 2020

Association for Molecular Pathology statement. Recommendations for in-house development and operation of molecular diagnostic tests

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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

Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated?

1 reference

12 December 2020

10.2353/JMOLDX.2009.090050

Identifiers

DOI

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20 August 2017

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20 August 2017

PubMed publication ID

19815695

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