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Tranexamic acid for epistaxis in hereditary hemorrhagic telangiectasia patients: a European cross‐over controlled trial in a rare disease

Journal of thrombosis and haemostasis, 2014-09, Vol.12 (9), p.1494-1502

2014

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Hereditary hemorrhagic telangiectasia: from molecular biology to patient care

Journal of thrombosis and haemostasis, 2010-07, Vol.8 (7), p.1447-1456

2010

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Immunological abnormalities associated with hereditary haemorrhagic telangiectasia

Journal of internal medicine, 2013-10, Vol.274 (4), p.351-362

2013

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The new Ghent criteria for Marfan syndrome: what do they change?

Clinical genetics, 2012-05, Vol.81 (5), p.433-442

2012

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Psychosocial quality of life in hereditary haemorrhagic telangiectasia patients

Rhinology, 2011-06, Vol.49 (2), p.164-167

2011

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Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands

Journal of medical genetics, 2008-06, Vol.45 (6), p.384-390

2008

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Hemorrhagic Hereditary Telangiectasia (Rendu-Osler Disease) and Infectious Diseases: An Underestimated Association

Clinical infectious diseases, 2007-03, Vol.44 (6), p.841-845

2007

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Connexin 26 gene linked to a dominant deafness

Nature (London), 1998-05, Vol.393 (6683), p.319-320

1998

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What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?

Prenatal diagnosis, 2012-12, Vol.32 (13), p.1318-1323

2012

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Visceral manifestations in hereditary haemorrhagic telangiectasia type 2

Journal of medical genetics, 2003-07, Vol.40 (7), p.494-502

2003

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Cancer patients who experienced diagnostic genetic testing for cancer susceptibility: Reactions and behavior after the disclosure of a positive test result

Cancer epidemiology, biomarkers & prevention, 2002, Vol.11 (1), p.97-104

2002

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Stroke following pulmonary arteriovenous fistula embolization in a patient with HHT

Neurology, 2008-12, Vol.71 (24), p.2012

2008

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International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia

Journal of medical genetics, 2011-02, Vol.48 (2), p.73-87

2011

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A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q

Human molecular genetics, 1995-05, Vol.4 (5), p.945-949

1995

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Doppler ultrasonographic grading of hepatic vascular malformations in hereditary hemorrhagic telangiectasia -- results of extensive screening

Ultraschall in der Medizin, 2004-09, Vol.25 (5), p.348-355

2004

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Familial thoracic aortic aneurysm dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity

European journal of human genetics : EJHG, 2004-03, Vol.12 (3), p.173-180

2004

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Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families

Neurology, 2003-02, Vol.60 (4), p.674

2003

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Liver transplantation resolves the hyperdynamic circulation in hereditary hemorrhagic telangiectasia with hepatic involvement

Gastroenterology (New York, N.Y. 1943), 1999, Vol.116 (1), p.187-192

1999

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Mutation Analysis and Embryonic Expression of the HLXB9 Currarino Syndrome Gene

American journal of human genetics, 2000-05, Vol.66 (5), p.1504-1515

2000

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A Locus for Autosomal Dominant Colobomatous Microphthalmia Maps to Chromosome 15q12-q15

American journal of human genetics, 2000-12, Vol.67 (6), p.1592-1597

2000

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A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss

Journal of medical genetics, 2000-05, Vol.37 (5), p.368-370

2000

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Toriello-Carey syndrome and unbalanced translocation t(8;18)(p12;q22)

American journal of medical genetics. Part A, 2004-07, Vol.128A (2), p.219-221

2004

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Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia

European journal of human genetics : EJHG, 1998-07, Vol.6 (4), p.308-314

1998

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3.3 Effect of Celiprolol on Prevention of Cardiovascular Events in Vascular Ehlers-Danlos Syndrome

Artery research, 2009-12, Vol.3 (4), p.153-154

2009

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I033 Celiprolol increases the elasticity of the radial artery in vascular Ehlers-Danlos syndrome : a randomized controlled clinical trial

Archives of cardiovascular diseases, 2009, Vol.102, p.S99-S99

2009

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Tranexamic acid for epistaxis in hereditary hemorrhagic telangiectasia patients: a European cross‐over controlled trial in a rare disease

Hereditary hemorrhagic telangiectasia: from molecular biology to patient care

Immunological abnormalities associated with hereditary haemorrhagic telangiectasia

The new Ghent criteria for Marfan syndrome: what do they change?

Psychosocial quality of life in hereditary haemorrhagic telangiectasia patients

Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands

Hemorrhagic Hereditary Telangiectasia (Rendu-Osler Disease) and Infectious Diseases: An Underestimated Association

Connexin 26 gene linked to a dominant deafness

What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?

Visceral manifestations in hereditary haemorrhagic telangiectasia type 2

Cancer patients who experienced diagnostic genetic testing for cancer susceptibility: Reactions and behavior after the disclosure of a positive test result

Stroke following pulmonary arteriovenous fistula embolization in a patient with HHT

International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia

A third locus for hereditary haemorrhagic telangiectasia maps to chromosome 12q

Doppler ultrasonographic grading of hepatic vascular malformations in hereditary hemorrhagic telangiectasia -- results of extensive screening

Familial thoracic aortic aneurysm dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity

Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families

Liver transplantation resolves the hyperdynamic circulation in hereditary hemorrhagic telangiectasia with hepatic involvement

Mutation Analysis and Embryonic Expression of the HLXB9 Currarino Syndrome Gene

A Locus for Autosomal Dominant Colobomatous Microphthalmia Maps to Chromosome 15q12-q15

A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss

Toriello-Carey syndrome and unbalanced translocation t(8;18)(p12;q22)

Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia

3.3 Effect of Celiprolol on Prevention of Cardiovascular Events in Vascular Ehlers-Danlos Syndrome

I033 Celiprolol increases the elasticity of the radial artery in vascular Ehlers-Danlos syndrome : a randomized controlled clinical trial

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