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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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Étude anatomo-clinique rétrospective d’une série de 17 cas de carcinomes rénaux à stroma leiomyomateux identifiant une association forte avec la Sclérose Tubéreuse de Bourneville

Progrès en urologie (Paris), 2014-11, Vol.24 (13), p.835-836

2014

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

Neurology, 2011-04, Vol.76 (17), p.1524-1526

2011

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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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Crystal structure of a double-stranded DNA containing a cisplatin interstrand cross-link at 1.63 A resolution: hydration at the platinated site

Nucleic acids research, 1999-04, Vol.27 (8), p.1837-1846

1999

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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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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.302-305

2008

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

Human mutation, 2000-08, Vol.16 (2), p.143-156

2000

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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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Not Available

Progrès en urologie (Paris), 2014-11, Vol.24 (13), p.835-836

2014

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Vascularisation artérielle du processus coracoïde : travail anatomique et applications chirurgicales

Revue de chirurgie orthopédique et traumatologique, 2011-12, Vol.97 (8), p.S489-S490

2011

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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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Pharmacologie Expérimentale et Clinique des Psychostimulants

Canadian journal of psychiatry, 1995-09, Vol.40 (7), p.401-410

1995

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Lymphangioléiomyomatose pulmonaire sporadique chez un homme

Revue des maladies respiratoires, 2012-11, Vol.29 (9), p.1179-1179

2012

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

Étude anatomo-clinique rétrospective d’une série de 17 cas de carcinomes rénaux à stroma leiomyomateux identifiant une association forte avec la Sclérose Tubéreuse de Bourneville

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

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

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

Cognitive changes in asymptomatic carriers of the Huntington disease mutation gene

OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract

Crystal structure of a double-stranded DNA containing a cisplatin interstrand cross-link at 1.63 A resolution: hydration at the platinated site

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

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

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

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

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

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

Not Available

Vascularisation artérielle du processus coracoïde : travail anatomique et applications chirurgicales

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

Pharmacologie Expérimentale et Clinique des Psychostimulants

Lymphangioléiomyomatose pulmonaire sporadique chez un homme

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

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

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