(Q51827574)

13 April 2018

title

Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening. (English)

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10

Charles M Strom

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13 April 2018

author name string

Feras M Hantash

1

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Joy B Redman

2

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Kelsey Starn

3

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Ben Anderson

4

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Arlene Buller

5

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Matthew J McGinniss

6

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Franklin Quan

7

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Mei Peng

8

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Weimin Sun

9

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publication date

17 December 2005

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13 April 2018

published in

Human Genetics

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13 April 2018

volume

119

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issue

1-2

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page(s)

126-136

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13 April 2018

https://scigraph.springernature.com/pub.10.1007/s00439-005-0082-0

exact match

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cites work

MSH2 in contrast to MLH1 and MSH6 is frequently inactivated by exonic and promoter rearrangements in hereditary nonpolyposis colorectal cancer

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12 December 2020

Uniparental inheritance of microsatellite alleles of the cystic fibrosis gene (CFTR): identification of a 50 kilobase deletion

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12 December 2020

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

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12 December 2020

Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis

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12 December 2020

Novel CFTR mutations in black cystic fibrosis patients

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12 December 2020

Extensive sequencing of the cystic fibrosis transmembrane regulator gene: assay validation and unexpected benefits of developing a comprehensive test

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12 December 2020

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

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12 December 2020

Prenatal detection by real-time quantitative PCR and characterization of a new CFTR deletion, 3600+15kbdel5.3kb (or CFTRdele19)

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12 December 2020

A mutation in the cystic fibrosis transmembrane conductance regulator gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis

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12 December 2020

Dystrophin and mutations: one gene, several proteins, multiple phenotypes

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12 December 2020

Characterization of the segmental duplication LCR7-20 in the human genome

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12 December 2020

A large deletion mutation in the CFTR gene (3120+1Kbdel8.6Kb): a founder mutation in the Palestinian Arabs. Mutation in brief no. 231. Online

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12 December 2020

Genomic rearrangements in the CFTR gene: extensive allelic heterogeneity and diverse mutational mechanisms

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12 December 2020

Cystic fibrosis mutation frequencies in upstate New York

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12 December 2020

Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe.

1 reference

12 December 2020

10.1007/S00439-005-0082-0

Identifiers

DOI

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13 April 2018

PubMed ID

16362824

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13 April 2018