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MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

Journal of medical genetics, 2010-01, Vol.47 (1), p.22-29

2010

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Progressive Osseous Heteroplasia: A Model for the Imprinting Effects of GNAS Inactivating Mutations in Humans

The journal of clinical endocrinology and metabolism, 2010-06, Vol.95 (6), p.3028-3038

2010

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Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants

Journal of the neurological sciences, 2019-11, Vol.406, p.116376-116376, Article 116376

2019

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Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity

Clinical genetics, 2004-10, Vol.66 (4), p.333-340

2004

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A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

Journal of medical genetics, 2001-01, Vol.38 (1), p.14-19

2001

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Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays

Archives of disease in childhood, 2006-02, Vol.91 (2), p.178-182

2006

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A Global Analysis of Mucormycosis in France: The RetroZygo Study (2005-2007)

Clinical infectious diseases, 2012-02, Vol.54 (suppl_1), p.S35-S43

2012

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P003 The diffusion processes of the CFTR mutations in Brittany (France)

Journal of cystic fibrosis, 2020-06, Vol.19, p.S55-S55

2020

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Centre de référence spina-bifida

Annals of physical and rehabilitation medicine, 2011-10, Vol.54, p.e170-e170

2011

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Reference center spina bifida

Annals of physical and rehabilitation medicine, 2011-10, Vol.54, p.e173-e173

2011

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Reproductive attitudes of parents of CF child: pregnancy termination vs choice to maintain an affected pregnancy

Journal of cystic fibrosis, 2008-06, Vol.7, p.S11-S11

2008

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Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study

Journal of inherited metabolic disease, 2018-12, Vol.41 (6), p.937-946

2018

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WS16-1 Analysis of time trends in incidence of cystic fibrosis in Brittany (western France) 30 years after implementation of newborn screening in that area

Journal of cystic fibrosis, 2019-06, Vol.18, p.S29-S30

2019

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WS23.1 Time trends in the incidence of cystic fibrosis: review of the 40-year experience of Brittany (France) and comparison with other regions worldwide

Journal of cystic fibrosis, 2020-06, Vol.19, p.S34-S35

2020

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Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome

Human mutation, 2010-02, Vol.31 (2), p.113-126

2010

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Syndromic mental retardation

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2008-06, Vol.15 (5), p.705-707

2008

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Le retard mental syndromique

Archives de pédiatrie (Paris), 2008-06, Vol.15 (5), p.705-707

2008

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Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients

Scientific reports, 2016-11, Vol.6 (1), p.36182-36182, Article 36182

2016

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Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease

Molecular genetics and metabolism, 2017-09, Vol.122 (1-2), p.80-85

2017

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The Kabuki (Niikawa-Kuroki) syndrome : further delineation of the phenotype in 29 non-Japanese patients

European journal of pediatrics, 1994-06, Vol.153 (6), p.438-445

1994

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355 Family testing: the 17-year experience of Brittany (western France)

Journal of cystic fibrosis, 2007, Vol.6, p.S87-S87

2007

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372 Outcome of the pregnancies with an echogenic bowel detected by ultrasonography: the 15 year-experience of Brittany (western France)

Journal of cystic fibrosis, 2007, Vol.6, p.S91-S91

2007

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Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation

Journal of medical genetics, 2001-02, Vol.38 (2), p.121-125

2001

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Résultats à long terme du sphincter urinaire artificiel chez les patients spina bifida de sexe masculin

Progrès en urologie (Paris), 2017-11, Vol.27 (13), p.760-761

2017

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The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease

Revue neurologique, 2013-08, Vol.169 (8-9), p.595-602

2013

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MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

Progressive Osseous Heteroplasia: A Model for the Imprinting Effects of GNAS Inactivating Mutations in Humans

Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants

Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays

A Global Analysis of Mucormycosis in France: The RetroZygo Study (2005-2007)

P003 The diffusion processes of the CFTR mutations in Brittany (France)

Centre de référence spina-bifida

Reference center spina bifida

Reproductive attitudes of parents of CF child: pregnancy termination vs choice to maintain an affected pregnancy

Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study

WS16-1 Analysis of time trends in incidence of cystic fibrosis in Brittany (western France) 30 years after implementation of newborn screening in that area

WS23.1 Time trends in the incidence of cystic fibrosis: review of the 40-year experience of Brittany (France) and comparison with other regions worldwide

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome

Syndromic mental retardation

Le retard mental syndromique

Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients

Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease

The Kabuki (Niikawa-Kuroki) syndrome : further delineation of the phenotype in 29 non-Japanese patients

355 Family testing: the 17-year experience of Brittany (western France)

372 Outcome of the pregnancies with an echogenic bowel detected by ultrasonography: the 15 year-experience of Brittany (western France)

Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation

Résultats à long terme du sphincter urinaire artificiel chez les patients spina bifida de sexe masculin

The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease

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