(Q40454479)

English

Comprehensive arrayed primer extension array for the detection of 59 sequence variants in 15 conditions prevalent among the (Ashkenazi) Jewish population.

scientific article published on April 2007

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

20 September 2017

Comprehensive arrayed primer extension array for the detection of 59 sequence variants in 15 conditions prevalent among the (Ashkenazi) Jewish population. (English)

1 reference

Europe PubMed Central

PMC publication ID

20 September 2017

author name string

Iris Schrijver

1

1 reference

Europe PubMed Central

PMC publication ID

20 September 2017

Maigi Külm

2

1 reference

Europe PubMed Central

PMC publication ID

20 September 2017

Phyllis I Gardner

3

1 reference

Europe PubMed Central

PMC publication ID

20 September 2017

Eugene P Pergament

4

1 reference

Europe PubMed Central

PMC publication ID

20 September 2017

Morris B Fiddler

5

1 reference

Europe PubMed Central

PMC publication ID

20 September 2017

publication date

1 April 2007

1 reference

Europe PubMed Central

PMC publication ID

20 September 2017

The Journal of Molecular Diagnostics

1 reference

Europe PubMed Central

PMC publication ID

20 September 2017

9

1 reference

Europe PubMed Central

PMC publication ID

20 September 2017

2

1 reference

Europe PubMed Central

PMC publication ID

20 September 2017

228-236

1 reference

Europe PubMed Central

PMC publication ID

20 September 2017

Natural history of Ashkenazi intelligence

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867437

22 September 2017

Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations

1 reference

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22 September 2017

Bloom syndrome, genomic instability and cancer: the SOS-like hypothesis

1 reference

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22 September 2017

Ashkenazi Jewish genetic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867437

22 September 2017

Clinical features of Bloom syndrome and function of the causative gene, BLM helicase

1 reference

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22 September 2017

Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867437

22 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867437

22 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867437

22 September 2017

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

1 reference

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22 September 2017

Unravelling genetic data by arrayed primer extension.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867437

22 September 2017

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

1 reference

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22 September 2017

Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.

1 reference

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22 September 2017

A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients.

1 reference

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22 September 2017

Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies

1 reference

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22 September 2017

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

1 reference

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22 September 2017

Factor XI deficiency

1 reference

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22 September 2017

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

1 reference

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22 September 2017

Mutation analysis of the Fanconi anemia gene FACC

1 reference

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22 September 2017

The Ashkenazi Jewish Fanconi anemia mutation: incidence among patients and carrier frequency in the at-risk population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867437

22 September 2017

Canavan disease: mutations among Jewish and non-Jewish patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867437

22 September 2017

The molecular basis of Tay-Sachs disease: mutation identification and diagnosis

1 reference

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22 September 2017

Factor XI deficiency in Ashkenazi Jews in Israel

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867437

22 September 2017

Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867437

22 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867437

22 September 2017

Molecular genetics of Bloom's syndrome

1 reference

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25 September 2017

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

1 reference

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17 June 2018

Arrayed primer extension: solid-phase four-color DNA resequencing and mutation detection technology.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1867437

17 June 2018

Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness

1 reference

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Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up

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Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease

1 reference

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A genetic profile of contemporary Jewish populations

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

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Contribution of connexin 26 mutations to nonsyndromic deafness in Ashkenazi patients and the variable phenotypic effect of the mutation 167delT.

1 reference

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20 August 2018

Identification of the gene causing mucolipidosis type IV.

1 reference

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20 August 2018

Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews

1 reference

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Reliable detection of beta-thalassemia and G6PD mutations by a DNA microarray

1 reference

https://pubmed.ncbi.nlm.nih.gov/17384215

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17384215

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17384215

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17384215

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Type A Niemann-Pick disease: a frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/17384215

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.2353/JMOLDX.2007.060100

1 reference

Europe PubMed Central

PMC publication ID

20 September 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

20 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

20 September 2017

ResearchGate publication ID

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