(Q42066141)

15 October 2017

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

1 reference

15 October 2017

0 references

0 references

11

Charles M Strom

1 reference

15 October 2017

3

Robert J Desnick

1 reference

15 October 2017

Michael S Watson

1

1 reference

15 October 2017

Garry R Cutting

2

1 reference

15 October 2017

Deborah A Driscoll

4

1 reference

15 October 2017

Katherine Klinger

5

1 reference

15 October 2017

Michael Mennuti

6

1 reference

15 October 2017

Glenn E Palomaki

7

1 reference

15 October 2017

Bradley W Popovich

8

1 reference

15 October 2017

Victoria M Pratt

9

1 reference

15 October 2017

Elizabeth M Rohlfs

10

1 reference

15 October 2017

C Sue Richards

12

1 reference

15 October 2017

David R Witt

13

1 reference

15 October 2017

Wayne W Grody

14

1 reference

15 October 2017

language of work or name

English

0 references

publication date

1 September 2004

1 reference

15 October 2017

1 reference

15 October 2017

6

1 reference

15 October 2017

5

1 reference

15 October 2017

387-391

1 reference

https://scigraph.springernature.com/pub.10.1097/01.gim.0000139506.11694.7c

15 October 2017

0 references

cites work

Use of MALDI-TOF mass spectrometry in a 51-mutation test for cystic fibrosis: evidence that 3199del6 is a disease-causing mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110945

Standards and guidelines for CFTR mutation testing

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110945

Clinical sensitivity of prenatal screening for cystic fibrosis via CFTR carrier testing in a United States panethnic population

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110945

Cystic fibrosis screening using the College panel: platform comparison and lessons learned from the first 20,000 samples.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110945

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

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110945

The I148T CFTR allele occurs on multiple haplotypes: a complex allele is associated with cystic fibrosis

17 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15371902

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genetic testing for cystic fibrosis. National Institutes of Health Consensus Development Conference Statement on genetic testing for cystic fibrosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15371902

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Cystic fibrosis carrier screening: issues in implementation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15371902

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1097/01.GIM.0000139506.11694.7C

1 reference

Dimensions Publication ID

15 October 2017

0 references

1 reference

15 October 2017

PubMed publication ID

15371902

1 reference