Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR. (Q34728517)

4 August 2017

title

Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR. (English)

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Xavier Estivill i Pallejà

4 August 2017

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10

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4 August 2017

C Tornador

4

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Stephan Ossowski

object named as

S Ossowski

7

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author name string

D Trujillano

1

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4 August 2017

M D Ramos

2

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4 August 2017

J González

3

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4 August 2017

F Sotillo

5

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4 August 2017

G Escaramis

6

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4 August 2017

L Armengol

8

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4 August 2017

T Casals

9

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4 August 2017

language of work or name

English

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publication date

17 May 2013

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Journal of Medical Genetics

4 August 2017

published in

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4 August 2017

volume

50

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4 August 2017

issue

7

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4 August 2017

page(s)

455-462

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101602

4 August 2017

1 reference

Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101602

Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101602

Identification of the cystic fibrosis gene: genetic analysis

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101602

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101602

Identification of the cystic fibrosis gene: chromosome walking and jumping

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101602

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101602

Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101602

CFTR rearrangements in Spanish cystic fibrosis patients: first new duplication (35kb) characterised in the Mediterranean countries

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101602

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

21 January 2018

1 reference

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101602

A method and server for predicting damaging missense mutations

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101602

Distribution and intensity of constraint in mammalian genomic sequence

21 January 2018

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MutationTaster evaluates disease-causing potential of sequence alterations

21 January 2018

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Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign

21 January 2018

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https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101602

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101602

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101602

Bronchiectasis in adult patients: an expression of heterozygosity for CFTR gene mutations?

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101602

Different CFTR mutational spectrum in alcoholic and idiopathic chronic pancreatitis?

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101602

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes

21 January 2018

1 reference

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Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units

21 January 2018

1 reference

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Copy number variation detection and genotyping from exome sequence data

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101602

Spectrum of Mutations in the CFTR Gene in Cystic Fibrosis Patients of Spanish Ancestry

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101602

Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the underlying mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101602

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101602

Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101602

10.1136/JMEDGENET-2013-101602

21 January 2018

Identifiers

DOI

1 reference

4 August 2017

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