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Isolated and unilateral facial angiofibromas revealing a type 1 segmental postzygotic mosaicism of tuberous sclerosis complex with c.4949_4982del TSC2 mutation

British journal of dermatology (1951), 2018-01, Vol.178 (1), p.e53-e54

2018

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Dermatological and genetic data in tuberous sclerosis: A prospective single-center study of 38 patients

Annales de dermatologie et de vénéréologie, 2022-12, Vol.149 (4), p.241-244

2022

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Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT

Neurology, 2011-04, Vol.76 (17), p.1524

2011

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The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy

Journal of cystic fibrosis, 2023-05, Vol.22 (3), p.515-524

2023

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Cognitive changes in asymptomatic carriers of the Huntington disease mutation gene

European journal of neurology, 2007-12, Vol.14 (12), p.1344-1350

2007

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OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract

Journal of medical genetics, 2004-09, Vol.41 (9), p.e110-e110

2004

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Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis

Diabetes & metabolism, 2008-12, Vol.34 (6), p.620-626

2008

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Hypochloremia and hyponatremia as the initial presentation of cystic fibrosis in three adults

Annales d'endocrinologie, 2010-02, Vol.71 (1), p.46-50

2010

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Severe episodes of extra cellular dehydration: an atypical adult presentation of cystic fibrosis

Clinical nephrology, 2008-04, Vol.69 (4), p.302

2008

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Hyperechogenic fetal bowel: A large French collaborative study of 682 cases

American journal of medical genetics, 2003-09, Vol.121A (3), p.209-213

2003

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Prevalence of the tuberous sclerosis complex at patients taken care for a renal angiomyolipoma

Progrès en urologie (Paris), 2020-09, Vol.30 (10), p.500-506

2020

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Aquagenic palmar keratoderma in a patient heterozygous for the mutation c.3197G>C in the CFTR gene

Annales de dermatologie et de vénéréologie, 2015-03, Vol.142 (3), p.201-205

2015

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A simplified method for determination of specific DNA or RNA copy number using quantitative PCR and an automatic DNA sequencer

BioTechniques, 1992-07, Vol.13 (1), p.106

1992

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WS15.1 CysMA , a new tool for the interpretation of rare CFTR missense variants

Journal of cystic fibrosis, 2017-06, Vol.16, p.S27-S27

2017

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Predicting the risk of cystic fibrosis with abnormal ultrasound signs of fetal bowel: Results of a French molecular collaborative study based on 641 prospective cases

American journal of medical genetics, 2002-06, Vol.110 (2), p.109-115

2002

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4 Valuable collaboration between a molecular CFTR database and a national CF registry: the French experience

Journal of cystic fibrosis, 2016-06, Vol.15, p.S52-S52

2016

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Isolated and unilateral facial angiofibromas revealing a type 1 segmental postzygotic mosaicism of tuberous sclerosis complex with c.4949_4982del TSC 2 mutation

British journal of dermatology (1951), 2018-01, Vol.178 (1)

2018

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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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Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

Human molecular genetics, 2014-05, Vol.23 (9), p.2279-2289

2014

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Quantitative determination of the hybrid Bcr‐Abl RNA in patients with chronic myelogenous leukaemia under interferon therapy

British journal of haematology, 1992-12, Vol.82 (4), p.701-707

1992

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Bilateral hand amyotrophy with PMP-22 gene deletion

European journal of neurology, 2007-01, Vol.14 (1), p.115-116

2007

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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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The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy

Journal of cystic fibrosis, 2023-05, Vol.22 (3), p.515-524

2023

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WS21.3 Overview of shared benefits from the 6-year long collaboration between the French Cystic Fibrosis Registry and the CFTR-France genetics database

Journal of cystic fibrosis, 2020-06, Vol.19, p.S33-S33

2020

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Isolated and unilateral facial angiofibromas revealing a type 1 segmental postzygotic mosaicism of tuberous sclerosis complex with c.4949_4982del TSC2 mutation

Dermatological and genetic data in tuberous sclerosis: A prospective single-center study of 38 patients

Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT

The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy

Cognitive changes in asymptomatic carriers of the Huntington disease mutation gene

OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract

Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis

Hypochloremia and hyponatremia as the initial presentation of cystic fibrosis in three adults

Severe episodes of extra cellular dehydration: an atypical adult presentation of cystic fibrosis

Hyperechogenic fetal bowel: A large French collaborative study of 682 cases

Prevalence of the tuberous sclerosis complex at patients taken care for a renal angiomyolipoma

Aquagenic palmar keratoderma in a patient heterozygous for the mutation c.3197G>C in the CFTR gene

A simplified method for determination of specific DNA or RNA copy number using quantitative PCR and an automatic DNA sequencer

WS15.1 CysMA , a new tool for the interpretation of rare CFTR missense variants

Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France

Predicting the risk of cystic fibrosis with abnormal ultrasound signs of fetal bowel: Results of a French molecular collaborative study based on 641 prospective cases

4 Valuable collaboration between a molecular CFTR database and a national CF registry: the French experience

Isolated and unilateral facial angiofibromas revealing a type 1 segmental postzygotic mosaicism of tuberous sclerosis complex with c.4949_4982del TSC 2 mutation

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

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

Quantitative determination of the hybrid Bcr‐Abl RNA in patients with chronic myelogenous leukaemia under interferon therapy

Bilateral hand amyotrophy with PMP-22 gene deletion

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

The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy

WS21.3 Overview of shared benefits from the 6-year long collaboration between the French Cystic Fibrosis Registry and the CFTR-France genetics database

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