(Q34268291)

1 August 2017

title

Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases (English)

1 reference

1 August 2017

5

Robert J Desnick

1 reference

1 August 2017

1

Stuart A. Scott

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20672374

13 June 2024

author name string

Lisa Edelmann

2

1 reference

1 August 2017

Liu Liu

3

1 reference

1 August 2017

Minjie Luo

4

1 reference

1 August 2017

Ruth Kornreich

6

1 reference

1 August 2017

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20672374

13 June 2024

publication date

1 November 2010

1 reference

full work available at URL

1 August 2017

https://doi.org/10.1002/humu.21327

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20672374

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20672374/pdf/?tool=EBI

13 June 2024

file format

Portable Document Format

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20672374

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20672374/?tool=EBI

13 June 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20672374

https://europepmc.org/articles/PMC2970726

13 June 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20672374

https://europepmc.org/articles/PMC2970726?pdf=render

13 June 2024

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20672374

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fhumu.21327

13 June 2024

1 reference

https://api.crossref.org/works/10.1002/HUMU.21327

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21327/fullpdf

13 June 2024

1 reference

https://api.crossref.org/works/10.1002/HUMU.21327

13 June 2024

1 reference

1 August 2017

volume

31

1 reference

1 August 2017

issue

11

1 reference

1 August 2017

page(s)

1240-1250

1 reference

Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes

1 August 2017

cites work

1 reference

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ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent

6 July 2018

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

6 July 2018

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Next-generation sequencing: from basic research to diagnostics

6 July 2018

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Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray

6 July 2018

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Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy

6 July 2018

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Carrier screening in individuals of Ashkenazi Jewish descent

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2970726

Carrier screening for Gaucher disease: lessons for low-penetrance, treatable diseases

6 July 2018

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

6 July 2018

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Technical validation of a TM Biosciences Luminex-based multiplex assay for detecting the American College of Medical Genetics recommended cystic fibrosis mutation panel

6 July 2018

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Technical validation of a multiplex platform to detect thirty mutations in eight genetic diseases prevalent in individuals of Ashkenazi Jewish descent

6 July 2018

1 reference

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The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations

6 July 2018

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Molecular diagnosis of inherited disorders: lessons from hemoglobinopathies

6 July 2018

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

6 July 2018

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6 July 2018

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Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III

6 July 2018

1 reference

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A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome

6 July 2018

1 reference

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Screening for thalassemia: a model of success.

6 July 2018

1 reference

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

6 July 2018

1 reference

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6 July 2018

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The Dor Yeshorim story: community-based carrier screening for Tay-Sachs disease

6 July 2018

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2970726

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

6 July 2018

1 reference

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

6 July 2018

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Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model

6 July 2018

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

6 July 2018

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Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews.

6 July 2018

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6 July 2018

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6 July 2018

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

6 July 2018

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6 July 2018

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28 October 2018

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28 October 2018

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28 October 2018

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The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa

28 October 2018

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Identification of a common mutation (Gly194Cys) in both Arab Moslem and Ashkenazi Jewish patients with dihydrolipoamide dehydrogenase (E3) deficiency: possible beneficial effect of vitamin therapy

28 October 2018

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28 October 2018

1 reference

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28 October 2018

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

28 October 2018

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

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2970726

Prenatal genetic carrier testing using triple disease screening

28 October 2018

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12 December 2020

Cystic fibrosis heterozygote screening in the Orthodox Community of Ashkenazi Jews: the Dor Yesharim approach and heterozygote frequency

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12 December 2020

Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population

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12 December 2020

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

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12 December 2020

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12 December 2020

High frequency of a common Bloom syndrome Ashkenazi mutation among Jews of Polish origin

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12 December 2020

Increased risk of idiopathic chronic pancreatitis in cystic fibrosis carriers

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12 December 2020

Biochemical and molecular diagnosis of lipoamide dehydrogenase deficiency in a North American Ashkenazi Jewish family

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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?

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12 December 2020

Knowledge and attitude toward the hemoglobinopathies premarital screening program in Saudi Arabia: population-based survey

1 reference

12 December 2020

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

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12 December 2020

Screening for familial dysautonomia in Israel: evidence for higher carrier rate among Polish Ashkenazi Jews

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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

Cystic fibrosis carrier screening: validation of a novel method using BeadChip technology

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12 December 2020

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

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12 December 2020

Identifiers

DOI

10.1002/HUMU.21327

1 reference

release_3yxo3362mnfdtb2axxv2cl7wmy

1 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/3yxo3362mnfdtb2axxv2cl7wmy

24 November 2022

mapped directly with Wikidata item

PMC publication ID

2970726

1 reference

1 August 2017

1 reference