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

Journal of cystic fibrosis, 2008-05, Vol.7 (3), p.179-196

2008

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Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR

Journal of medical genetics, 2013-07, Vol.50 (7), p.455-462

2013

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Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis-like phenotypes

Clinical genetics, 2014-07, Vol.86 (1), p.91-95

2014

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8 The in cis effect of c.2562T>G and c.2657+5G>A CFTR splice variants

Journal of cystic fibrosis, 2013-06, Vol.12, p.S49-S49

2013

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

Human reproduction (Oxford), 2000-07, Vol.15 (7), p.1476-1483

2000

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2 New insights in CF molecular diagnostics applying the next generation sequencing technologies

Journal of cystic fibrosis, 2013-06, Vol.12, p.S48-S48

2013

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Spectrum of Mutations in the CFTR Gene in Cystic Fibrosis Patients of Spanish Ancestry

Annals of human genetics, 2007-03, Vol.71 (2), p.194-201

2007

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Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13

Nature genetics, 1999-06, Vol.22 (2), p.128-129

1999

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N-terminal CFTR missense variants severely affect the behavior of the CFTR chloride channel

Human mutation, 2008-05, Vol.29 (5), p.738-749

2008

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20 Inconclusive diagnosis following newborn screening for cystic fibrosis (CF): clinical outcomes in 56 infants from three Spanish CF centres

Journal of cystic fibrosis, 2014-06, Vol.13, p.S50-S50

2014

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3 CFTR gene direct sequencing versus scanning techniques. Improving the sensitivity to identify CF mutations

Journal of cystic fibrosis, 2012-06, Vol.11, p.S55-S55

2012

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Molecular basis of cystic fibrosis in Spanish population

Journal of cystic fibrosis, 2010, Vol.9, p.S11-S11

2010

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21 Genotype–phenotype correlation of CFTR p.Leu206Trp mutation in 22 paediatric and adult cystic fibrosis (CF) patients

Journal of cystic fibrosis, 2013-06, Vol.12, p.S53-S53

2013

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10 CFTR p.Leu206Trp mutation: genotype-phenotype correlation in 12 Spanish cystic fibrosis (CF) patients

Journal of cystic fibrosis, 2012-06, Vol.11, p.S57-S57

2012

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2 Detection of aberrant transcripts by CFTR mRNA analysis

Journal of cystic fibrosis, 2011, Vol.10, p.S1-S1

2011

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Patients' Perceptions of Health Related Quality of Life in Rheumatoid Arthritis and Chronic Low Back Pain

Quality of life research, 2006-02, Vol.15 (1), p.93-102

2006

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4 Simple and accurate assays for targeting CFTR mutations of specific geographic/ethnic origins by PCR allelic discrimination

Journal of cystic fibrosis, 2011, Vol.10, p.S1-S1

2011

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The origin of the major cystic fibrosis mutation (ΔF508) in European populations

Nature genetics, 1994-06, Vol.7 (2), p.169-175

1994

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Neonatal screening for cystic fibrosis in Cataluña, Spain: 10 years of experience

Journal of cystic fibrosis, 2010, Vol.9, p.S9-S9

2010

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Cystic fibrosis in a southern Brazilian population: characteristics of 90% of the alleles

Clinical genetics, 2007-09, Vol.72 (3), p.218-223

2007

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CFTR mutations in cystic fibrosis patients from Murcia region (southeastern Spain): implications for genetic testing

Clinical genetics, 2009-12, Vol.76 (6), p.577-579

2009

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Testicular CFTR Splice Variants in Patients with Congenital Absence of the Vas Deferens

Human molecular genetics, 1998-10, Vol.7 (11), p.1739-1744

1998

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Validating assays for relative quantification of cDNA CFTR from nasal epithelial brushing

Journal of cystic fibrosis, 2008-06, Vol.7, p.S5-S5

2008

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The Relationship between Eating Styles and the Severity of Psoriasis: A Cross-Sectional Study in Thailand

Dermatologic therapy, 2024-01, Vol.2024, p.1-6

2024

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Superficial Radiotherapy (SRT-100) as an Effective Noninvasive Treatment for Pyogenic Granuloma: Case Report and Literature Review

Dermatologic therapy, 2023-10, Vol.2023 (1)

2023

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

Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR

Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis-like phenotypes

8 The in cis effect of c.2562T>G and c.2657+5G>A CFTR splice variants

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

2 New insights in CF molecular diagnostics applying the next generation sequencing technologies

Spectrum of Mutations in the CFTR Gene in Cystic Fibrosis Patients of Spanish Ancestry

Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13

N-terminal CFTR missense variants severely affect the behavior of the CFTR chloride channel

20 Inconclusive diagnosis following newborn screening for cystic fibrosis (CF): clinical outcomes in 56 infants from three Spanish CF centres

3 CFTR gene direct sequencing versus scanning techniques. Improving the sensitivity to identify CF mutations

Molecular basis of cystic fibrosis in Spanish population

21 Genotype–phenotype correlation of CFTR p.Leu206Trp mutation in 22 paediatric and adult cystic fibrosis (CF) patients

10 CFTR p.Leu206Trp mutation: genotype-phenotype correlation in 12 Spanish cystic fibrosis (CF) patients

2 Detection of aberrant transcripts by CFTR mRNA analysis

Patients' Perceptions of Health Related Quality of Life in Rheumatoid Arthritis and Chronic Low Back Pain

4 Simple and accurate assays for targeting CFTR mutations of specific geographic/ethnic origins by PCR allelic discrimination

The origin of the major cystic fibrosis mutation (ΔF508) in European populations

Neonatal screening for cystic fibrosis in Cataluña, Spain: 10 years of experience

Cystic fibrosis in a southern Brazilian population: characteristics of 90% of the alleles

CFTR mutations in cystic fibrosis patients from Murcia region (southeastern Spain): implications for genetic testing

Testicular CFTR Splice Variants in Patients with Congenital Absence of the Vas Deferens

Validating assays for relative quantification of cDNA CFTR from nasal epithelial brushing

The Relationship between Eating Styles and the Severity of Psoriasis: A Cross-Sectional Study in Thailand

Superficial Radiotherapy (SRT-100) as an Effective Noninvasive Treatment for Pyogenic Granuloma: Case Report and Literature Review

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