(Q33825439)

29 July 2017

1 reference

title

Screening practices for mutations in the CFTR gene ABCC7. (English)

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29 July 2017

Girodon-Boulandet E

1

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29 July 2017

Cazeneuve C

series ordinal

2

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29 July 2017

Goossens M

series ordinal

3

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29 July 2017

publication date

1 January 2000

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29 July 2017

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29 July 2017

volume

15

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29 July 2017

issue

2

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29 July 2017

page(s)

135-149

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

29 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

Slowly but surely towards better scanning for mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

Simultaneous screening for 11 mutations in the cystic fibrosis transmembrane conductance regulator gene by multiplex amplification and reverse dot-blot

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

Evaluation of parental mitochondrial inheritance in neonates born after intracytoplasmic sperm injection

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

A robotics-assisted procedure for large scale cystic fibrosis mutation analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

DNA sequence determination by hybridization: a strategy for efficient large-scale sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

Structure-function analysis of a double-mutant cystic fibrosis transmembrane conductance regulator protein occurring in disorders related to cystic fibrosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

Detection of the deltaF508 (F508del) mutation of the cystic fibrosis gene by surface plasmon resonance and biosensor technology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

A tetranucleotide repeat polymorphism in the cystic fibrosis gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

Restriction site generating-polymerase chain reaction (RG-PCR) for the probeless detection of hidden genetic variation: application to the study of some common cystic fibrosis mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

Diversity of cystic fibrosis mutation-screening practices

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

The rapid detection of unknown mutations in nucleic acids.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

Resequencing and mutational analysis using oligonucleotide microarrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

Calculating posterior cystic fibrosis risk with echogenic bowel and one characterized cystic fibrosis mutation: avoiding pitfalls in the risk calculations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

Identification of the cystic fibrosis gene: genetic analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

Direct sequencing of single primer PCR products: a rapid method to achieve short chromosomal walks

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

CFTR gene mutations in men with bilateral ejaculatory-duct obstruction and anomalies of the seminal vesicles

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

Congenital bilateral absence of the vas deferens and cystic fibrosis. A genetic commonality.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

Minisequencing: a specific tool for DNA analysis and diagnostics on oligonucleotide arrays.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

Screening for CF mutations in adult cystic fibrosis patients with a directed and optimized SSCP strategy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

Identification of the cystic fibrosis gene: chromosome walking and jumping

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

Mutations of the cystic fibrosis gene in patients with chronic pancreatitis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

Prognostic implications of fetal echogenic bowel

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

Detection of maternal cell contamination in amniotic fluid cell cultures using fluorescent labelled microsatellites

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

A 31-mutation assay for cystic fibrosis testing in the clinical molecular diagnostics laboratory

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

Multiplex PCR amplification of three microsatellites within the CFTR gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

Detecting single base substitutions as heteroduplex polymorphisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

HLA class II polymorphism in cystic fibrosis. A possible modifier of pulmonary phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

Novel approach to quantitative polymerase chain reaction using real-time detection: application to the detection of gene amplification in breast cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

Prenatal diagnosis by fluorescence in situ hybridization on chorionic villus cells: nonsignificance of maternal cell contamination

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

Analysis of the 27 exons and flanking regions of the cystic fibrosis gene: 40 different mutations account for 91.2% of the mutant alleles in southern France

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

A rapid, efficient, and sensitive assay for simultaneous detection of multiple cystic fibrosis mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

Psoralen-modified oligonucleotide primers improve detection of mutations by denaturing gradient gel electrophoresis and provide an alternative to GC-clamping

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

Evaluation of CFTR gene mutation testing methods in 136 diagnostic laboratories: report of a large European external quality assessment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

First-trimester biochemical and molecular diagnoses using chorionic villi: high accuracy in the U.S. collaborative study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

Chorionic villus sampling followed by amniocentesis in the same pregnancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

Abnormal distribution of CF delta F508 allele in azoospermic men with congenital aplasia of epididymis and vas deferens

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

Congenital bilateral absence of vas deferens in absence of cystic fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

Some caveats in PCR-based prenatal diagnosis on direct amniotic fluid versus cultured amniocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

Capillary zone electrophoresis of polymerase chain reaction-amplified DNA fragments in polymer networks: The case of GATT microsatellites in cystic fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

A Novel Mutation in the Cystic Fibrosis Gene in Patients with Pulmonary Disease but Normal Sweat Chloride Concentrations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

Cystic fibrosis transmembrane conductance regulator and obstructive azoospermia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

A mutation in CFTR produces different phenotypes depending on chromosomal background

21 January 2018

1 reference

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Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease

21 January 2018

1 reference

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21 January 2018

1 reference

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Methods for analysis of multiple cystic fibrosis mutations

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1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%28200002%2915%3A2%3C135%3A%3AAID-HUMU2%3E3.0.CO%3B2-H

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1 reference

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Double mutant alleles: are they rare?

21 January 2018

1 reference

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Maternal cell contamination in uncultured amniotic fluid

21 January 2018

1 reference

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Comprehensive and accurate mutation scanning of theCFTR gene by two-dimensional DNA electrophoresis

21 January 2018

1 reference

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10.1002/(SICI)1098-1004(200002)15:2<135::AID-HUMU2>3.0.CO;2-H

21 January 2018

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DOI

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29 July 2017

1 reference