Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders (Q33608581)

28 July 2017

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title

Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders (English)

1 reference

28 July 2017

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Samuel M Moskowitz

1

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28 July 2017

James F Chmiel

2

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28 July 2017

Darci L Sternen

3

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28 July 2017

Edith Cheng

4

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28 July 2017

Ronald L Gibson

5

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28 July 2017

Susan G Marshall

6

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28 July 2017

Garry R Cutting

7

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28 July 2017

language of work or name

English

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publication date

1 December 2008

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28 July 2017

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28 July 2017

10

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28 July 2017

12

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28 July 2017

851-868

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https://scigraph.springernature.com/pub.10.1097/gim.0b013e31818e55a2

28 July 2017

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21 June 2018

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TREATMENT OUTCOME OF TUBERCULOSIS UNDER DIRECTLY OBSERVED TREATMENT SHORT COURSE ( DOTS ) IN PATIENTS PRESENTING AT CHEST & TB HOSPITAL, AMRITSAR

21 June 2018

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Insulin and oral agents for managing cystic fibrosis-related diabetes

21 June 2018

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

21 June 2018

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Novel, mechanism-based therapies for cystic fibrosis

21 June 2018

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Pharmacological induction of CFTR function in patients with cystic fibrosis: mutation-specific therapy.

21 June 2018

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Cystic fibrosis lung disease: genetic influences, microbial interactions, and radiological assessment

21 June 2018

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The role of cystic fibrosis gene mutations in determining susceptibility to chronic pancreatitis

21 June 2018

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Update on newborn screening for cystic fibrosis

21 June 2018

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Basic protocol for transepithelial nasal potential difference measurements

21 June 2018

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Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

21 June 2018

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Standardized procedure for measurement of nasal potential difference: an outcome measure in multicenter cystic fibrosis clinical trials

21 June 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 June 2018

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Newborn screening methods for cystic fibrosis

21 June 2018

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Pathophysiology and Management of Pulmonary Infections in Cystic Fibrosis

21 June 2018

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Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study

21 June 2018

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Standards and guidelines for CFTR mutation testing

21 June 2018

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21 June 2018

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Cystic fibrosis carrier testing in pregnancy in Canada

21 June 2018

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Mucus clearance as a primary innate defense mechanism for mammalian airways

21 June 2018

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Presence of cystic fibrosis-related diabetes mellitus is tightly linked to poor lung function in patients with cystic fibrosis: data from the European Epidemiologic Registry of Cystic Fibrosis

21 June 2018

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Pregnancy in Cystic Fibrosis

21 June 2018

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The outcome of 72 pregnancies in 55 women with cystic fibrosis in the United Kingdom 1977-1996.

21 June 2018

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Screening practices for mutations in the CFTR gene ABCC7.

21 June 2018

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Lung symptoms in pseudohypoaldosteronism type 1 are associated with deficiency of the alpha-subunit of the epithelial sodium channel

21 June 2018

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Predicting the risk of cystic fibrosis with echogenic fetal bowel and one cystic fibrosis mutation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810953

Cystic fibrosis: molecular diagnosis, population screening, and public policy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810953

Diagnosis, screening and management of cystic fibrosis related diabetes mellitus: a consensus conference report

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810953

Cystic fibrosis in Jews: frequency and mutation distribution

21 June 2018

1 reference

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Genetics of chronic obstructive pulmonary disease and disseminated bronchiectasis

21 June 2018

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810953

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810953

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810953

Comparison of the clinical manifestations of cystic fibrosis in black and white patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810953

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 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810953

Insulin resistance is associated with decreased clinical status in cystic fibrosis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810953

Gender gap in cystic fibrosis mortality

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810953

Sweat testing for the diagnosis of cystic fibrosis: practical considerations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810953

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810953

Cystic fibrosis: genotypic and phenotypic variations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810953

Cystic fibrosis heterozygote screening in 5,161 pregnant women

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810953

Genital abnormalities in male patients with cystic fibrosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810953

Pancreatic insufficiency, growth, and nutrition in infants identified by newborn screening as having cystic fibrosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810953

Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients.

21 June 2018

1 reference

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Genotype-phenotype correlation in cystic fibrosis patients compound heterozygous for the A455E mutation.

21 January 2018

1 reference

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Effect of ambient air pollution on pulmonary exacerbations and lung function in cystic fibrosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818E55A2

Structural airway abnormalities in infants and young children with cystic fibrosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818E55A2

Progressive damage on high resolution computed tomography despite stable lung function in cystic fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818E55A2

Distal intestinal obstruction syndrome in adults with cystic fibrosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818E55A2

Pancreatitis among patients with cystic fibrosis: correlation with pancreatic status and genotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818E55A2

Diabetes is associated with dramatically decreased survival in female but not male subjects with cystic fibrosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818E55A2

Microvascular complications in patients with cystic fibrosis-related diabetes (CFRD).

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818E55A2

CFTR Genotype as a Predictor of Prognosis in Cystic Fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818E55A2

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

21 January 2018

1 reference

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Primary ciliary dyskinesia: diagnostic and phenotypic features.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818E55A2

Variant cystic fibrosis phenotypes in the absence of CFTR mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818E55A2

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/10.1097%2FGIM.0B013E31818E55A2

Guidelines for implementation of cystic fibrosis newborn screening programs: Cystic Fibrosis Foundation workshop report.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818E55A2

Newborn screening for cystic fibrosis in Wisconsin: comparison of biochemical and molecular methods.

21 January 2018

1 reference

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Neonatal screening for cystic fibrosis. Cystic fibrosis should be added to diseases sought in all newborn babies

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818E55A2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818E55A2

Identification and treatment of cystic fibrosis-related diabetes. A survey of current medical practice in the U.S.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818E55A2

Endogenous ursodeoxycholic acid and cholic acid in liver disease due to cystic fibrosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818E55A2

Long-term prospective study of the effect of ursodeoxycholic acid on cystic fibrosis-related liver disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818E55A2

Mucus clearance and lung function in cystic fibrosis with hypertonic saline

21 January 2018

1 reference

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A controlled trial of long-term inhaled hypertonic saline in patients with cystic fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818E55A2

Antibiotic treatment of initial colonization with Pseudomonas aeruginosa postpones chronic infection and prevents deterioration of pulmonary function in cystic fibrosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818E55A2

Significant microbiological effect of inhaled tobramycin in young children with cystic fibrosis

21 January 2018

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Antibiotic prophylaxis in infants and young children with cystic fibrosis: a randomized controlled trial

21 January 2018

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Hyperechogenic fetal bowel: a prospective analysis of sixty consecutive cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818E55A2

Prognostic implications of fetal echogenic bowel

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818E55A2

The incidence of cystic fibrosis in Scotland calculated from heterozygote frequencies

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E31818E55A2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818E55A2

Recurrent Pseudomonas bronchopneumonia and other symptoms as in cystic fibrosis in a child with type I pseudohypoaldosteronism

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2810953

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

30 October 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818E55A2

Duration of treatment effect after tobramycin solution for inhalation in young children with cystic fibrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31818E55A2

Cystic fibrosis mutations and genotype-pulmonary phenotype analysis

21 January 2018

1 reference

12 December 2020

The effect of pregnancy on survival in women with cystic fibrosis

1 reference

12 December 2020

Two-tiered immunoreactive trypsinogen-based newborn screening for cystic fibrosis in Colorado: screening efficacy and diagnostic outcomes

1 reference

12 December 2020

Pitfall in the use of genotype analysis as the sole diagnostic criterion for cystic fibrosis

1 reference

12 December 2020

Genetic modifiers of lung disease in cystic fibrosis

1 reference

12 December 2020

A mutation in CFTR produces different phenotypes depending on chromosomal background

1 reference

12 December 2020

Updated assessment of cystic fibrosis mutation frequencies in non-Hispanic Caucasians

1 reference

12 December 2020

Increased risk of idiopathic chronic pancreatitis in cystic fibrosis carriers

1 reference

12 December 2020

Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA

1 reference

12 December 2020

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

1 reference

12 December 2020

Liver involvement in cystic fibrosis

1 reference

12 December 2020

Intermittent administration of inhaled tobramycin in patients with cystic fibrosis. Cystic Fibrosis Inhaled Tobramycin Study Group

1 reference

12 December 2020

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

1 reference

12 December 2020

Development and evaluation of a PCR-based, line probe assay for the detection of 58 alleles in the cystic fibrosis transmembrane conductance regulator (CFTR) gene

1 reference

12 December 2020

Predictors of deterioration of lung function in cystic fibrosis

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

Diabetes mellitus in cystic fibrosis

1 reference

12 December 2020

Nebulised colomycin for early pseudomonas colonisation in cystic fibrosis

1 reference

12 December 2020

Sweat chloride concentrations in infants homozygous or heterozygous for F508 cystic fibrosis

1 reference

12 December 2020

Lung disease associated with the IVS8 5T allele of the CFTR gene

1 reference

12 December 2020

Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C

1 reference

12 December 2020

Clinical implications of cystic fibrosis transmembrane conductance regulator mutations

1 reference

12 December 2020

Cystic fibrosis newborn screening: a pilot study to maximize carrier screening

1 reference

12 December 2020

Neonatal screening for cystic fibrosis. Early diagnosis is important to parents even if it makes little difference to outcome

1 reference

12 December 2020

10.1097/GIM.0B013E31818E55A2

Identifiers

DOI

1 reference

Dimensions Publication ID

28 July 2017

0 references

1 reference

28 July 2017

1 reference