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Preimplantation genetic diagnosis for cystic fibrosis: the Montpellier center's 10-year experience

Clinical genetics, 2015-02, Vol.87 (2), p.124-132

2015

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Negative genetic neonatal screening for cystic fibrosis caused by compound heterozygosity for two large CFTR rearrangements

Clinical genetics, 2007-10, Vol.72 (4), p.374-377

2007

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WS17.2 Identification of CF mutations in deep intronic regions: Design of antisense oligonucleotides for a targeted therapeutic approach

Journal of cystic fibrosis, 2015-06, Vol.14, p.S31-S31

2015

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3 Evaluation of the Multiplicom CFTR MASTR V2 kit on a Roche 454 Junior NGS platform as a diagnostic tool for a comprehensive analysis of the CFTR gene

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

2013

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11 A new multiplex PCR method for the quantification of aberrant transcripts from nasal epithelial cells of patients

Journal of cystic fibrosis, 2013-06, Vol.12, p.S50-S50

2013

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WS10.3 What can next-generation sequencing do for CF?

Journal of cystic fibrosis, 2013-06, Vol.12, p.S20-S20

2013

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WS21.2 Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis by quantitative real time mutant enrichment with 3′-modified oligonucleotides (MEMO) PCR

Journal of cystic fibrosis, 2013-06, Vol.12, p.S43-S43

2013

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Gène CFTR et infertilité masculine en 2001: Conseil génétique, diagnostic prénatal, diagnostic pré-implantatoire

Andrologie (Lille), 2001-12, Vol.11 (4), p.204-208

DES GEORGES, M

2001

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Is isolated idiopathic pancreatitis associated with CFTR mutations?

Gut, 2000-01, Vol.46 (1), p.140-140

2000

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WS8.7 Preimplantation genetic diagnosis for cystic fibrosis using multiplex fluorescent PCR

Journal of cystic fibrosis, 2012-06, Vol.11, p.S17-S17

2012

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WS8.6 Decision algorithm and scoring method for the classification of variants of unknown clinical significance in the CFTR gene

Journal of cystic fibrosis, 2012-06, Vol.11, p.S17-S17

2012

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Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations

European journal of human genetics : EJHG, 2006-01, Vol.14 (1), p.85-93

2006

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WS8.5 Help for the interpretation of unclassified variants: example of the UMD-CFTR-France Locus Specific Database

Journal of cystic fibrosis, 2012-06, Vol.11, p.S17-S17

2012

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5 Assessing the impact of unclassified variants on splicing of CFTR mRNA: in silico predictions versus ex vivo assays

Journal of cystic fibrosis, 2011, Vol.10, p.S2-S2

2011

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P24 Preimplantation genetic diagnosis for cystic fibrosis: The Montpellier center experience

Reproductive biomedicine online, 2010, Vol.20, p.S30-S31

2010

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Powerful strategy permits to rapidly characterise breakpoint junctions: essential for a better understanding of the molecular mechanism involving large rearrangements

Journal of cystic fibrosis, 2009, Vol.8, p.S3-S3

2009

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A two-days full-scanning of the CFTR gene for simultaneous detection of point mutations and large rearrangements using High Resolution Melting analysis (HRM) in combination with quantitative real-time PCR

Journal of cystic fibrosis, 2009, Vol.8, p.S15-S15

2009

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Search for population-specific CFTR mutations: How to avoid the identification of unclassified variants

Journal of cystic fibrosis, 2009, Vol.8, p.S4-S4

2009

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UMD- CFTR -France: a model of national database for collection and analysis of extensive molecular data in CF and CFTR -related diseases ( CFTR -RD)

Journal of cystic fibrosis, 2010, Vol.9, p.S114-S114

2010

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UMD-CFTR: a database dedicated to CF and CFTR-related diseases

Journal of cystic fibrosis, 2009, Vol.8, p.S105-S105

2009

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Preimplantation genetic diagnosis for cystic fibrosis

Journal of cystic fibrosis, 2009, Vol.8, p.S16-S16

2009

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The French CF Laboratory Network: seven years' experience

Journal of cystic fibrosis, 2009, Vol.8, p.S2-S2

2009

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Occurrence of CFTR de novo mutations is not so rare

Journal of cystic fibrosis, 2008-06, Vol.7, p.S6-S6

2008

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Comprehensive analysis of the French NBS cohort: Excellent mutation detection rate despite high allelic heterogeneity

Journal of cystic fibrosis, 2009, Vol.8, p.S4-S4

2009

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Diagnostic moléculaire de la mucoviscidose : évaluation de la trousse Elucigene® CF20 dans le sang et les cellules buccales

Annales de biologie clinique (Paris), 2001, Vol.59 (3), p.277-283

2001

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Preimplantation genetic diagnosis for cystic fibrosis: the Montpellier center's 10-year experience

Negative genetic neonatal screening for cystic fibrosis caused by compound heterozygosity for two large CFTR rearrangements

WS17.2 Identification of CF mutations in deep intronic regions: Design of antisense oligonucleotides for a targeted therapeutic approach

3 Evaluation of the Multiplicom CFTR MASTR V2 kit on a Roche 454 Junior NGS platform as a diagnostic tool for a comprehensive analysis of the CFTR gene

11 A new multiplex PCR method for the quantification of aberrant transcripts from nasal epithelial cells of patients

WS10.3 What can next-generation sequencing do for CF?

WS21.2 Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis by quantitative real time mutant enrichment with 3′-modified oligonucleotides (MEMO) PCR

Gène CFTR et infertilité masculine en 2001: Conseil génétique, diagnostic prénatal, diagnostic pré-implantatoire

Is isolated idiopathic pancreatitis associated with CFTR mutations?

WS8.7 Preimplantation genetic diagnosis for cystic fibrosis using multiplex fluorescent PCR

WS8.6 Decision algorithm and scoring method for the classification of variants of unknown clinical significance in the CFTR gene

Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations

WS8.5 Help for the interpretation of unclassified variants: example of the UMD-CFTR-France Locus Specific Database

5 Assessing the impact of unclassified variants on splicing of CFTR mRNA: in silico predictions versus ex vivo assays

P24 Preimplantation genetic diagnosis for cystic fibrosis: The Montpellier center experience

Powerful strategy permits to rapidly characterise breakpoint junctions: essential for a better understanding of the molecular mechanism involving large rearrangements

A two-days full-scanning of the CFTR gene for simultaneous detection of point mutations and large rearrangements using High Resolution Melting analysis (HRM) in combination with quantitative real-time PCR

Search for population-specific CFTR mutations: How to avoid the identification of unclassified variants

UMD- CFTR -France: a model of national database for collection and analysis of extensive molecular data in CF and CFTR -related diseases ( CFTR -RD)

UMD-CFTR: a database dedicated to CF and CFTR-related diseases

Preimplantation genetic diagnosis for cystic fibrosis

The French CF Laboratory Network: seven years' experience

Occurrence of CFTR de novo mutations is not so rare

Comprehensive analysis of the French NBS cohort: Excellent mutation detection rate despite high allelic heterogeneity

Diagnostic moléculaire de la mucoviscidose : évaluation de la trousse Elucigene® CF20 dans le sang et les cellules buccales

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