(Q34325346)

1 August 2017

title

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

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1 August 2017

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Hans Scheffer

12

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Mireille Claustres

6

object named as

Mireille Claustres

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1 August 2017

14

Michal Witt

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1 August 2017

Els Dequeker

1

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1 August 2017

Manfred Stuhrmann

2

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1 August 2017

Michael A Morris

3

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1 August 2017

Teresa Casals

4

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1 August 2017

Carlo Castellani

5

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1 August 2017

Harry Cuppens

7

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1 August 2017

Marie des Georges

8

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1 August 2017

Claude Ferec

9

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1 August 2017

Milan Macek

10

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1 August 2017

Pier-Franco Pignatti

11

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1 August 2017

Marianne Schwartz

13

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1 August 2017

Martin Schwarz

15

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1 August 2017

Emmanuelle Girodon

16

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1 August 2017

language of work or name

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6 August 2008

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European Journal of Human Genetics

1 August 2017

published in

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1 August 2017

volume

17

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1 August 2017

issue

1

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1 August 2017

page(s)

51-65

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https://scigraph.springernature.com/pub.10.1038/ejhg.2008.136

1 August 2017

exact match

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6 July 2018

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

6 July 2018

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Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations?

6 July 2018

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Bayesian risk assessment for autosomal recessive diseases: fetal echogenic bowel with one or no detectable CFTR mutation

6 July 2018

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Bayesian analysis and risk assessment in genetic counseling and testing.

6 July 2018

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6 July 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

6 July 2018

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6 July 2018

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Standards and guidelines for CFTR mutation testing

6 July 2018

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

6 July 2018

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Genotype and phenotype in cystic fibrosis

6 July 2018

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Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis.

6 July 2018

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Mutations of the cystic fibrosis gene in patients with chronic pancreatitis

6 July 2018

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Cystic fibrosis screening: a fetus with hyperechogenic bowel may be the index case

6 July 2018

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Cystic-fibrosis-like disease unrelated to the cystic fibrosis transmembrane conductance regulator

6 July 2018

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The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel

6 July 2018

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6 July 2018

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7 January 2021

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Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985951

Bowel abnormalities in the fetus--correlation of prenatal ultrasonographic findings with outcome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985951

The molecular basis for disease variability in cystic fibrosis.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985951

Cystic fibrosis heterozygote screening in 5,161 pregnant women

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985951

The genetic testing of children. Working Party of the Clinical Genetics Society (UK)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985951

Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985951

Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985951

Homozygous nonsense mutation causing cystic fibrosis with uniparental disomy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985951

A cluster of highly polymorphic dinucleotide repeats in intron 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985951

CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985951

The incidence of different cystic fibrosis mutations in the Scottish population: effects on prenatal diagnosis and genetic counselling

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985951

A tetranucleotide repeat polymorphism in the cystic fibrosis gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985951

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

6 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.136

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/10.1038%2FEJHG.2008.136

Atypical sinusitis in adults must lead to looking for cystic fibrosis and primary ciliary dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.136

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.136

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.136

Frequency of large CFTR gene rearrangements in Italian CF patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.136

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/10.1038%2FEJHG.2008.136

Variant cystic fibrosis phenotypes in the absence of CFTR mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.136

Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.136

Multiplex PCR amplification of three microsatellites within the CFTR gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.136

Prognostic implications of fetal echogenic bowel

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.136

ESHRE PGD Consortium 'Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)'.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.136

Guidelines for the appropriate use of genetic tests in infertile couples.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.136

A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.136

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985951

Recommendations for quality improvement in genetic testing for cystic fibrosis. European Concerted Action on Cystic Fibrosis.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2985951

A de Novo cystic fibrosis mutation: CGA (Arg) to TGA (stop) at codon 851 of the CFTR gene

28 October 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.136

Cystic fibrosis: a 2002 update

21 January 2018

1 reference

12 December 2020

Silver-Russell syndrome and cystic fibrosis associated with maternal uniparental disomy 7

1 reference

12 December 2020

Predicting the risk of cystic fibrosis with abnormal ultrasound signs of fetal bowel: results of a French molecular collaborative study based on 641 prospective cases

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12 December 2020

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

1 reference

12 December 2020

Bayesian analysis for cystic fibrosis risks in prenatal and carrier screening

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12 December 2020

Classification of cystic fibrosis and related disorders

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12 December 2020

[Screening for carriers of cystic fibrosis. Result of a pilot study among pregnant women]

1 reference

12 December 2020

Cystic fibrosis transmembrane conductance regulator and obstructive azoospermia

1 reference

12 December 2020

Increased incidence of cystic fibrosis gene mutations in adults with disseminated bronchiectasis

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12 December 2020

Detection of a de novo R1066H mutation in an Italian patient affected by cystic fibrosis

1 reference

12 December 2020

Hyperechogenic fetal bowel: a large French collaborative study of 682 cases

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12 December 2020

Frequency of the cystic fibrosis 3199del6 mutation in individuals heterozygous for I148T

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12 December 2020

CFTR gene mutations in adults with disseminated bronchiectasis

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12 December 2020

Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens

1 reference

12 December 2020

Immunoreactive trypsin/DNA newborn screening for cystic fibrosis: should the R117H variant be included in CFTR mutation panels?

1 reference

12 December 2020

Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling

1 reference

12 December 2020

TG15 T5 allele in clinically discordant monozygotic twins with cystic fibrosis

1 reference

12 December 2020

Scanning the cystic fibrosis transmembrane conductance regulator gene using high-resolution DNA melting analysis.

1 reference

12 December 2020

Third case of paternal isodisomy for chromosome 7 with cystic fibrosis: a new patient presenting with normal growth

1 reference

12 December 2020

A CA repeat in the first intron of the CFTR gene

1 reference

12 December 2020

Proportion of cystic fibrosis gene mutations not detected by routine testing in men with obstructive azoospermia

1 reference

12 December 2020

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

1 reference

12 December 2020

Mutation in the gene responsible for cystic fibrosis and predisposition to chronic rhinosinusitis in the general population

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12 December 2020

Identifiers

DOI

10.1038/EJHG.2008.136

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Dimensions Publication ID

1 August 2017

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1 August 2017

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