Recommendations for the classification of diseases as CFTR-related disorders (Q37887199)

24 August 2017

title

Recommendations for the classification of diseases as CFTR-related disorders (English)

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24 August 2017

18

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M Tzetis

9

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author name string

C Bombieri

1

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24 August 2017

M Claustres

2

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K De Boeck

3

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N Derichs

4

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J Dodge

5

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E Girodon

6

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I Sermet

7

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M Schwarz

8

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M Wilschanski

10

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C Bareil

11

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D Bilton

12

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C Castellani

13

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H Cuppens

14

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G R Cutting

15

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P Drevínek

16

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P Farrell

17

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K Jarvi

19

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B Kerem

20

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E Kerem

21

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M Knowles

22

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M Macek

23

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A Munck

24

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D Radojkovic

25

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M Seia

26

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D N Sheppard

27

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K W Southern

28

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M Stuhrmann

29

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E Tullis

30

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J Zielenski

31

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P F Pignatti

32

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C Ferec

33

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24 August 2017

publication date

1 June 2011

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Journal of Cystic Fibrosis

24 August 2017

published in

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24 August 2017

volume

10 Suppl 2

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24 August 2017

page(s)

S86-102

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

24 August 2017

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Gene modifiers in cystic fibrosis

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Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice

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The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening

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Phenotypic characterisation of patients with intermediate sweat chloride values: towards validation of the European diagnostic algorithm for cystic fibrosis

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Genetic and non-genetic determinants of outcomes in cystic fibrosis

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

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New clinical diagnostic procedures for cystic fibrosis in Europe

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7 January 2021

CFTR gene mutations in Japanese individuals with congenital bilateral absence of the vas deferens

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7 January 2021

Cystic fibrosis transmembrane conductance regulator gene screening and clinical correlation in Taiwanese males with congenital bilateral absence of the vas deferens

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Analysis of the whole CFTR coding regions and splice junctions in azoospermic men with congenital bilateral aplasia of epididymis or vas deferens.

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens

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https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

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

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https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

CFTR mutations and polymorphisms in male infertility

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https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Molecular pathology of the CFTR locus in male infertility

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7 January 2021

Pulmonary Function and Clinical Observations in Men With Congenital Bilateral Absence of the Vas Deferens

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Congenital bilateral absence of the vas deferens: clinical characteristics, biological parameters, cystic fibrosis transmembrane conductance regulator gene mutations, and implications for genetic counseling

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Seminal plasma characteristics as indicators of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in men with obstructive azoospermia

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Fertility in Men With Cystic Fibrosis

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https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Molecular mechanisms of CFTR chloride channel dysfunction in cystic fibrosis

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https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Cystic fibrosis: genotypic and phenotypic variations

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Heterogeneity of reproductive tract abnormalities in men with absence of the vas deferens: role of cystic fibrosis transmembrane conductance regulator gene mutations

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

CFTR gene mutations and male infertility.

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Cystic fibrosis mutation screening in CBAVD patients and men with obstructive azoospermia or severe oligozoospermia

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferens

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Heterogenous spectrum of CFTR gene mutations in Indian patients with congenital absence of vas deferens

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Molecular analysis of the cystic fibrosis gene reveals a high frequency of the intron 8 splice variant 5T in Egyptian males with congenital bilateral absence of the vas deferens

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https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Cystic fibrosis transmembrane conductance regulator and obstructive azoospermia

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Congenital bilateral absence of the vas deferens (CBAVD) and cystic fibrosis transmembrane regulator (CFTR): correlation between genotype and phenotype

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9.

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Cellular and viral splicing factors can modify the splicing pattern of CFTR transcripts carrying splicing mutations

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Splicing Factors Induce Cystic Fibrosis Transmembrane Regulator Exon 9 Skipping through a Nonevolutionary Conserved Intronic Element

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7 January 2021

Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping

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7 January 2021

Atypical 5' splice sites cause CFTR exon 9 to be vulnerable to skipping

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

A T3 allele in the CFTR gene exacerbates exon 9 skipping in vas deferens and epididymal cell lines and is associated with Congenital Bilateral Absence of Vas Deferens (CBAVD).

1 reference

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7 January 2021

Higher Proportion of Intact Exon 9 CFTR mRNA in Nasal Epithelium Compared with Vas Deferens

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7 January 2021

Increased proportion of exon 9 alternatively spliced CFTR transcripts in vas deferens compared with nasal epithelial cells

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https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

A mutation in CFTR produces different phenotypes depending on chromosomal background

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7 January 2021

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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7 January 2021

Cystic fibrosis transmembrane conductance regulator splice variants are not conserved and fail to produce chloride channels

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Expression of an abundant alternatively spliced form of the cystic fibrosis transmembrane conductance regulator (CFTR) gene is not associated with a cAMP-activated chloride conductance.

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Correlation between CFTR gene mutations in Iranian men with congenital absence of the vas deferens and anatomical genital phenotype

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Mutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens.

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Novel length variant of the polypyrimidine tract within the splice acceptor site in intron 8 of the CFTR gene: consequences for genetic testing using standard assays

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

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

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Large genomic rearrangements in the CFTR gene contribute to CBAVD.

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Missense, nonsense, and neutral mutations define juxtaposed regulatory elements of splicing in cystic fibrosis transmembrane regulator exon 9.

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

The role of common single-nucleotide polymorphisms on exon 9 and exon 12 skipping in nonmutated CFTR alleles

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

A 96-well formatted method for exon and exon/intron boundary full sequencing of the CFTR gene

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

The vas deferens in cystic fibrosis

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Disruption of the CFTR gene produces a model of cystic fibrosis in newborn pigs

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Expression of the cystic fibrosis gene in human foetal tissues

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Unilateral renal agenesis associated with congenital bilateral absence of the vas deferens: phenotypic findings and genetic considerations

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Congenital bilateral absence of vas deferens in the absence of cystic fibrosis

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Clinical findings in congenital absence of the vasa deferentia

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation associated with a congenital bilateral absence of vas deferens

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Impaired spermatogenesis in men with congenital absence of the vas deferens

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Cystic fibrosis mutation screening in healthy men with reduced sperm quality

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Genetic risk factors in infertile men with severe oligozoospermia and azoospermia

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Cystic fibrosis transmembrane conductance regulator mutations in azoospermic and oligospermic men and their partners

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Complete mutational screening of the cystic fibrosis transmembrane conductance regulator gene: cystic fibrosis mutations are not involved in healthy men with reduced sperm quality

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Involvement of CFTR gene alterations in obstructive and nonobstructive infertility in men

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Molecular evaluation of CFTR sequence variants in male infertility of testicular origin

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Molecular analysis of mutations and polymorphisms in the CFTR gene in male infertility

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Bicarbonate conductance and pH regulatory capability of cystic fibrosis transmembrane conductance regulator

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Gating of CFTR by the STAS domain of SLC26 transporters

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Dynamic regulation of CFTR bicarbonate permeability by [Cl-]i and its role in pancreatic bicarbonate secretion

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Cystic fibrosis transmembrane conductance regulator is vital to sperm fertilizing capacity and male fertility.

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

The cystic fibrosis transmembrane conductance regulator in reproductive health and disease.

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Cystic fibrosis phenotype evaluation and paternity outcome in 50 males with congenital bilateral absence of vas deferens

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Airway inflammation and infection in congenital bilateral absence of the vas deferens

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Uncertainty of sweat chloride testing: does the right hand know what the left hand is doing?

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Does the Macroduct collection system reliably define sweat chloride concentration in subjects with intermediate results?

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Results of percutaneous epididymal sperm aspiration and intracytoplasmic sperm injection in two major groups of patients with obstructive azoospermia

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Chronic pancreatitis: genetics and pathogenesis

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Relation between Mutations of the Cystic Fibrosis Gene and Idiopathic Pancreatitis

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Mutations of the Cystic Fibrosis Gene in Patients with Chronic Pancreatitis

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Cystic fibrosis gene mutations and pancreatitis risk: relation to epithelial ion transport and trypsin inhibitor gene mutations

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Determination of the relative contribution of three genes-the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene-to the etiology of idiopathic chronic pancreat

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Reduced CFTR function and the pathobiology of idiopathic pancreatitis

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Increased risk of idiopathic chronic pancreatitis in cystic fibrosis carriers

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Complete cystic fibrosis transmembrane conductance regulator gene sequencing in patients with idiopathic chronic pancreatitis and controls

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Independent Contribution of Common CFTR Variants to Chronic Pancreatitis

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

The true culprit within the SPINK1 p.N34S-containing haplotype is still at large

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitis

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Homozygosity for L997F in a child with normal clinical and chloride secretory phenotype provides evidence that this cystic fibrosis transmembrane conductance regulator mutation does not cause cystic fibrosis

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the cationic trypsinogen (PRSS1) gene, and the serine protease inhibitor, Kazal type 1 (SPINK1) gene in patients with alcoholic chronic pancreatitis

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

CFTR polymorphisms in patients with alcoholic chronic pancreatitis

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Mutations in the cystic fibrosis transmembrane regulator gene in patients with tropical calcific pancreatitis

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Genotype-phenotype correlation in 9 patients with tropical pancreatitis and identified gene mutations

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Cystic fibrosis transmembrane conductance regulator ion channel function testing in recurrent acute pancreatitis

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

An investigation into causative factors in patients with bronchiectasis

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

1 reference

7 January 2021

Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

CFTR gene mutations--including three novel nucleotide substitutions--and haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Paradigm shift in surgical approaches to spontaneous pneumothorax: VATS.

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Prospective analysis of cystic fibrosis transmembrane regulator mutations in adults with bronchiectasis or pulmonary nontuberculous mycobacterial infection.

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Patients with bronchiectasis: look for specific causes

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Newly diagnosed cystic fibrosis in adults: pattern and distribution of bronchiectasis in 12 cases

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Bronchiectasis in an asymptomatic infant with cystic fibrosis diagnosed following newborn screening.

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Chloride transport in nasal ciliated cells of cystic fibrosis heterozygotes

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Nasal potential difference measurements in patients with atypical cystic fibrosis

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

A modified technique for measurement of nasal transepithelial potential difference in infants

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Nasal potential difference in cystic fibrosis diagnosis of very young children

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Nasal potential difference in cystic fibrosis patients presenting borderline sweat test

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Towards complete and accurate reporting of studies of diagnostic accuracy: the STARD initiative. Standards for Reporting of Diagnostic Accuracy

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Ion transport abnormalities in rectal suction biopsies from children with cystic fibrosis

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Determinants of mild clinical symptoms in cystic fibrosis patients. Residual chloride secretion measured in rectal biopsies in relation to the genotype

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Ex vivo CF diagnosis by intestinal current measurements (ICM) in small aperture, circulating Ussing chambers

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Assessment of CFTR function in rectal biopsies for the diagnosis of cystic fibrosis.

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Residual chloride secretion in intestinal tissue of deltaF508 homozygous twins and siblings with cystic fibrosis. The European CF Twin and Sibling Study Consortium

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)-Mediated Residual Chloride Secretion Does Not Protect against Early Chronic Pseudomonas aeruginosa Infection in F508del Homozygous Cystic Fibrosis Patients

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Chloride conductance and genetic background modulate the cystic fibrosis phenotype of Delta F508 homozygous twins and siblings

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Diversity of the basic defect of homozygous CFTR mutation genotypes in humans

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for cystic fibrosis.

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Intestinal current measurement for diagnostic classification of patients with questionable cystic fibrosis: validation and reference data

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Nasal potential difference in non-classic cystic fibrosis-long term follow up

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Variant cystic fibrosis phenotypes in the absence of CFTR mutations

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

The complex relationships between cystic fibrosis and congenital bilateral absence of the vas deferens: clinical, electrophysiological and genetic data

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent or chronic idiopathic pancreatitis

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Chloride Conductance Expressed by ΔF508 and Other Mutant CFTRs In Xenopus Oocytes

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Mutations in CFTR associated with mild-disease-form Cl- channels with altered pore properties.

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Mechanism of dysfunction of two nucleotide binding domain mutations in cystic fibrosis transmembrane conductance regulator that are associated with pancreatic sufficiency.

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Understanding how cystic fibrosis mutations cause a loss of Cl- channel function.

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.

1 reference

https://api.crossref.org/works/10.1016/S1569-1993(11)60014-3

7 January 2021

10.1016/S1569-1993(11)60014-3

Identifiers

DOI

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/zol63fmgbfdpho6efbxdf64kga

30 July 2022

mapped directly with Wikidata item

Fatcat ID

release_zol63fmgbfdpho6efbxdf64kga

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/zol63fmgbfdpho6efbxdf64kga

30 July 2022

mapped directly with Wikidata item

https://api.fatcat.wiki/v0/release/zol63fmgbfdpho6efbxdf64kga

1 reference

30 July 2022