(Q37396256)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19767587%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

title

Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19767587%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

0 references

21

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8 February 2020

6

Kenneth Friedman

1 reference

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8 February 2020

author name string

Shannon D Barker

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19767587%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Sherri Bale

2

1 reference

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8 February 2020

Jessica Booker

3

1 reference

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8 February 2020

Arlene Buller

4

1 reference

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8 February 2020

Soma Das

5

1 reference

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8 February 2020

Andrew K Godwin

7

1 reference

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8 February 2020

Wayne W Grody

8

1 reference

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8 February 2020

Edward Highsmith

9

1 reference

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8 February 2020

Jeffery A Kant

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19767587%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Elaine Lyon

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19767587%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Rong Mao

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19767587%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Kristin G Monaghan

13

1 reference

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8 February 2020

Deborah A Payne

14

1 reference

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8 February 2020

Victoria M Pratt

15

1 reference

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8 February 2020

Iris Schrijver

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19767587%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Antony E Shrimpton

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19767587%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Elaine Spector

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19767587%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Milhan Telatar

19

1 reference

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8 February 2020

Lorraine Toji

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19767587%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Barbara Zehnbauer

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19767587%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Lisa V Kalman

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19767587%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

publication date

18 September 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19767587%20AND%20SRC:MED&resulttype=core&format=json

The Journal of Molecular Diagnostics

8 February 2020

published in

1 reference

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8 February 2020

volume

11

1 reference

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8 February 2020

page(s)

553-561

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19767587%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

issue

6

1 reference

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describes a project that uses

8 February 2020

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765754

Development of genomic reference materials for cystic fibrosis genetic testing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765754

Hereditary alpha-1-antitrypsin deficiency and its clinical consequences

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765754

Consensus characterization of 16 FMR1 reference materials: a consortium study

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765754

Multiple endocrine neoplasia type 2

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765754

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765754

Hereditary ovarian cancer in Ashkenazi Jews

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765754

Alpha1-antitrypsin deficiency. 2: genetic aspects of alpha(1)-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765754

Establishment of Stably EBV-Transformed Cell Lines from Residual Clinical Blood Samples for Use in Performance Evaluation and Quality Assurance in Molecular Genetic Testing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765754

Quality Assurance in Human Molecular Genetics Testing: Status and Recommendations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765754

Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765754

Genetic determinants of hyperhomocysteinaemia: the roles of cystathionine beta-synthase and 5,10-methylenetetrahydrofolate reductase

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765754

Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765754

The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765754

Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765754

Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765754

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765754

Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765754

Development of genomic reference materials for Huntington disease genetic testing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765754

Comparison of DNA- and RNA-based methods for detection of truncating BRCA1 mutations

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765754

RET in human development and oncogenesis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765754

The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765754

The 677 C/T MTHFR polymorphism is associated with essential hypertension, coronary artery disease, and higher homocysteine levels

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765754

A Single multiplexed allele-specific polymerase chain reaction for simultaneous detection of alpha1-antitrypsin S and Z mutations.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765754

Detection of 677CT/1298AC "double variant" chromosomes: implications for interpretation of MTHFR genotyping results

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765754

Methylenetetrahydrofolate reductase polymorphism (C677T), hyperhomocysteinemia, and risk of ischemic cardiovascular disease and venous thromboembolism: prospective and case-control studies from the Copenhagen City Heart Study

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765754

Novel germline BRCA1 mutation (155del4) in an African American with early-onset breast cancer

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765754

Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765754

Prenatal diagnosis of alpha-1-antitrypsin deficiency using polymerase chain reaction (PCR). Comparison of conventional RFLP methods with PCR used in combination with allele specific oligonucleotides or RFLP analysis.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765754

Quality control in molecular genetic testing

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765754

Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC

3 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2765754

Successful transformation of cryopreserved lymphocytes: a resource for epidemiological studies

3 December 2018

1 reference

12 December 2020

Cancer Risk Estimates for BRCA1 Mutation Carriers Identified in a Risk Evaluation Program

1 reference

12 December 2020

Serum Prealbumin: Polymorphism in Man

1 reference

12 December 2020

Prenatal diagnosis of alpha 1-antitrypsin deficiency by restriction fragment length polymorphisms, and comparison with oligonucleotide probe analysis

1 reference

12 December 2020

Emphysema of early onset associated with a complete deficiency of alpha-1-antitrypsin (null homozygotes)

1 reference

12 December 2020

Detection of alpha 1-antitrypsin Z and S mutations by polymerase chain reaction-mediated site-directed mutagenesis

1 reference

12 December 2020

Two novel nonradioactive polymerase chain reaction-based assays of dried blood spots, genomic DNA, or whole cells for fast, reliable detection of Z and S mutations in the alpha 1-antitrypsin gene

1 reference

12 December 2020

A novel point mutation in the tyrosine kinase domain of the RET proto-oncogene in sporadic medullary thyroid carcinoma and in a family with FMTC

1 reference

12 December 2020

Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2

1 reference

12 December 2020

Clinical features of individuals with PI*SZ phenotype of alpha 1-antitrypsin deficiency. alpha 1-Antitrypsin Deficiency Registry Study Group

1 reference

12 December 2020

The I1307K APC mutation does not predispose to colorectal cancer in Jewish Ashkenazi breast and breast-ovarian cancer kindreds

1 reference

12 December 2020

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

1 reference

12 December 2020

Standards and controls for genetic testing

1 reference

12 December 2020

Homocysteine, 5,10-methylenetetrahydrofolate reductase 677C>T polymorphism, nutrient intake, and incident cardiovascular disease in 24,968 initially healthy women

1 reference

12 December 2020

10.2353/JMOLDX.2009.090078

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19767587%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19767587%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

1 reference