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Identification and characterization of three large deletions and a deletion/polymorphism in the CFTR gene

Human mutation, 2005-05, Vol.25 (5), p.504-504

2005

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False‐positive results in neonatal screening for cystic fibrosis based on a three‐stage protocol (IRT/DNA/IRT): Should we adjust IRT cut‐off to ethnic origin?

Journal of inherited metabolic disease, 2005-12, Vol.28 (6), p.813-818

2005

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Large deletions in the CFTR gene: clinics and genetics in Swiss patients with CF

Clinical genetics, 2007-07, Vol.72 (1), p.30-38

2007

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Enzymatic characterization of four new mutations in the glucose-6 phosphatase (G6PC) gene which cause glycogen storage disease type 1a

Annals of human genetics, 1999-03, Vol.63 (2), p.141-146

1999

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CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders

Journal of medical genetics, 2013-04, Vol.50 (4), p.220-227

2013

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Les paramètres biologiques du dépistage systématique néonatal de la mucoviscidose : état des lieux après deux ans de fonctionnement en France

Immuno-analyse & biologie spécialisée, 2004-12, Vol.19 (6), p.351-356

2004

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Maternal isodisomy of the telomeric end of chromosome 2 is responsible for a case of primary hyperoxaluria type 1

American journal of medical genetics, 2005-01, Vol.132A (1), p.80-83

2005

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

Journal of medical genetics, 2009-11, Vol.46 (11), p.752-758

2009

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Mutation analysis in 600 French cystic fibrosis patients

Journal of medical genetics, 1994-07, Vol.31 (7), p.541-544

1994

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Identification of three rare frameshift mutations in exon 13 of the cystic fibrosis gene: 1918delGC, 2118del4 and 2372del8

Human molecular genetics, 1993-07, Vol.2 (7), p.1071-1072

1993

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A nonsense mutation in exon 4 of the cystic fibrosis gene frequent among the population of the Reunion Island

Human molecular genetics, 1992-11, Vol.1 (8), p.647-648

1992

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Mutation analysis in 11 French patients with Fabry disease

Human mutation, 1998, Vol.11 (S1), p.S288-S290

1998

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Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations

Human mutation, 1997, Vol.10 (2), p.135-154

1997

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40 kilobase deletion (CF 40 kb del 4-10) removes exons 4 to 10 of the cystic fibrosis transmembrane conductance regulator gene

Human mutation, 1998, Vol.11 (S1), p.S291-S294

1998

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A new mutation, 3905insT, accounts for 4.8% of 1173 CF chromosomes in Switzerland and causes a severe phenotype

Human genetics, 1997-08, Vol.100 (2), p.220-223

1997

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Short Report: Large deletions in the CFTR gene: clinics and genetics in Swiss patients with CF

Clinical genetics, 2007-07, Vol.72 (1), p.30

2007

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False-positive results in neonatal screening for cystic fibrosis based on a three-stage protocol (IRT/DNA/IRT) : Should we adjust IRT cut-off to ethnic oriein?

Journal of inherited metabolic disease, 2005, Vol.28 (6), p.813-818

2005

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Mutation analysis in 24 French patients with glycogen storage disease type 1a

Journal of medical genetics, 1996-05, Vol.33 (5), p.358-360

1996

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Mutation analysis in 11 French patients with Fabry disease

Human mutation, 1998, Vol.Suppl 1, p.S288

1998

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40 kilobase deletion (CF 40 kb del 4-10) removes exons 4 to 10 of the Cystic Fibrosis Transmembrane Conductance Regulator gene

Human mutation, 1998, Vol.Suppl 1, p.S291-S294

1998

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Identification and characterization of three large deletions and a deletion/polymorphism in the CFTR gene

False‐positive results in neonatal screening for cystic fibrosis based on a three‐stage protocol (IRT/DNA/IRT): Should we adjust IRT cut‐off to ethnic origin?

Large deletions in the CFTR gene: clinics and genetics in Swiss patients with CF

Enzymatic characterization of four new mutations in the glucose-6 phosphatase (G6PC) gene which cause glycogen storage disease type 1a

CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders

Les paramètres biologiques du dépistage systématique néonatal de la mucoviscidose : état des lieux après deux ans de fonctionnement en France

Maternal isodisomy of the telomeric end of chromosome 2 is responsible for a case of primary hyperoxaluria type 1

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

Mutation analysis in 600 French cystic fibrosis patients

Identification of three rare frameshift mutations in exon 13 of the cystic fibrosis gene: 1918delGC, 2118del4 and 2372del8

A nonsense mutation in exon 4 of the cystic fibrosis gene frequent among the population of the Reunion Island

Mutation analysis in 11 French patients with Fabry disease

Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations

40 kilobase deletion (CF 40 kb del 4-10) removes exons 4 to 10 of the cystic fibrosis transmembrane conductance regulator gene

A new mutation, 3905insT, accounts for 4.8% of 1173 CF chromosomes in Switzerland and causes a severe phenotype

Short Report: Large deletions in the CFTR gene: clinics and genetics in Swiss patients with CF

False-positive results in neonatal screening for cystic fibrosis based on a three-stage protocol (IRT/DNA/IRT) : Should we adjust IRT cut-off to ethnic oriein?

Mutation analysis in 24 French patients with glycogen storage disease type 1a

Mutation analysis in 11 French patients with Fabry disease

40 kilobase deletion (CF 40 kb del 4-10) removes exons 4 to 10 of the Cystic Fibrosis Transmembrane Conductance Regulator gene

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