Use of ivacaftor in late diagnosed cystic fibrosis monozygotic twins heterozygous for F508del and R117H-7T - a case report (Q64053802)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30975115 AND SRC:MED&resulttype=core&format=json

3 May 2020

case report

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title

Use of ivacaftor in late diagnosed cystic fibrosis monozygotic twins heterozygous for F508del and R117H-7T - a case report (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30975115 AND SRC:MED&resulttype=core&format=json

3 May 2020

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1

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3 May 2020

author name string

Svenja Straßburg

series ordinal

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30975115 AND SRC:MED&resulttype=core&format=json

3 May 2020

Christian Taube

series ordinal

3

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3 May 2020

Sivagurunathan Sutharsan

series ordinal

4

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3 May 2020

language of work or name

English

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publication date

11 April 2019

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30975115 AND SRC:MED&resulttype=core&format=json

3 May 2020

published in

BMC Pulmonary Medicine

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3 May 2020

volume

19

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3 May 2020

issue

1

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3 May 2020

page(s)

76

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Creative Commons Attribution 4.0 International

3 May 2020

copyright license

start time

11 April 2019

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients

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12 December 2020

A mutation in CFTR produces different phenotypes depending on chromosomal background

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

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

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Categories of deltaF508 homozygous cystic fibrosis twin and sibling pairs with distinct phenotypic characteristics

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Genotype-phenotype correlation in cystic fibrosis: the role of modifier genes.

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Late diagnosis defines a unique population of long-term survivors of cystic fibrosis

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Non-genetic influences on cystic fibrosis lung disease: the role of sociodemographic characteristics, environmental exposures, and healthcare interventions

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Delayed diagnosis of cystic fibrosis associated with R117H on a background of 7T polythymidine tract at intron 8.

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12 December 2020

Early pulmonary manifestation of cystic fibrosis in children with the DeltaF508/R117H-7T genotype

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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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Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation

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A CFTR potentiator in patients with cystic fibrosis and the G551D mutation

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Understanding the natural progression in �V1 decline in patients with cystic fibrosis: a longitudinal study

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12 December 2020

Change in sweat chloride as a clinical end point in cystic fibrosis clinical trials: the ivacaftor experience

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How genetic modifiers influence the phenotype of spinal muscular atrophy and suggest future therapeutic approaches

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Effects of ivacaftor on severely ill patients with cystic fibrosis carrying a G551D mutation.

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12 December 2020

Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function

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12 December 2020

Sweat chloride is not a useful marker of clinical response to Ivacaftor.

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Effects of ivacaftor in patients with cystic fibrosis who carry the G551D mutation and have severe lung disease

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Lung disease modifier genes in cystic fibrosis.

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Ivacaftor for the treatment of patients with cystic fibrosis and the G551D mutation: a systematic review and cost-effectiveness analysis

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Disease-modifying genes and monogenic disorders: experience in cystic fibrosis

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Efficacy and safety of ivacaftor in patients with cystic fibrosis and a non-G551D gating mutation

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Efficacy response in CF patients treated with ivacaftor: post-hoc analysis

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Efficacy and safety of ivacaftor in patients with cystic fibrosis who have an Arg117His-CFTR mutation: a double-blind, randomised controlled trial

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Forecasting US ivacaftor outcomes and cost in cystic fibrosis patients with the G551D mutation

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Phenotypic variability of R117H-CFTR expression within monozygotic twins

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12 December 2020

Classification of CFTR mutation classes

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12 December 2020

Changes of CFTR functional measurements and clinical improvements in cystic fibrosis patients with non p.Gly551Asp gating mutations treated with ivacaftor

1 reference

12 December 2020

Diagnosis of Cystic Fibrosis: Consensus Guidelines from the Cystic Fibrosis Foundation

1 reference

12 December 2020

Lung function and disease severity in cystic fibrosis patients heterozygous for p.Arg117His

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12 December 2020

Lung function decline is delayed but not decreased in patients with cystic fibrosis and the R117H gene mutation

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12 December 2020

Thirty Years of Sweat Chloride Testing at One Referral Center

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12 December 2020

Cystic Fibrosis Foundation Pulmonary Guidelines: Use of CFTR Modulator Therapy in Patients with Cystic Fibrosis

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Disease-modifying genetic factors in cystic fibrosis

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12 December 2020

Intra-individual biological variation in sweat chloride concentrations in CF, CFTR dysfunction, and healthy pediatric subjects

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12 December 2020

Precision Medicine In Action: The Impact Of Ivacaftor On Cystic Fibrosis-Related Hospitalizations.

1 reference

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SLC26A9 Gene Is Associated With Lung Function Response to Ivacaftor in Patients With Cystic Fibrosis

1 reference

12 December 2020

Phenotypic spectrum of patients with cystic fibrosis and cystic fibrosis-related disease carrying p.Arg117His

1 reference

12 December 2020

10.1186/S12890-019-0840-8

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30975115 AND SRC:MED&resulttype=core&format=json

Dimensions Publication ID

3 May 2020

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/s12890-019-0840-8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30975115 AND SRC:MED&resulttype=core&format=json

3 May 2020

PubMed publication ID

30975115

1 reference