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Somatic mutational landscape of extracranial arteriovenous malformations and phenotypic correlations

Journal of the European Academy of Dermatology and Venereology, 2022-06, Vol.36 (6), p.905-912

2022

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Discussion à propos de la communication : « Prédispositions héréditaires au cancer de l’endomètre

Bulletin de l'Académie nationale de médecine, 2023-02, Vol.207 (2), p.230-230

Soubrier, F.

2023

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Prédispositions héréditaires au cancer de l’endomètre

Bulletin de l'Académie nationale de médecine, 2023-02, Vol.207 (2), p.204-210

Soubrier, F.

2023

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Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension

Thorax, 2004-05, Vol.59 (5), p.446-448

2004

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Germline RAD51C mutations in ovarian cancer susceptibility

Clinical genetics, 2013-04, Vol.83 (4), p.332-336

2013

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Molecular genetics and clinical features of Chinese idiopathic and heritable pulmonary arterial hypertension patients

The European respiratory journal, 2012-03, Vol.39 (3), p.597-603

2012

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Protective role of interleukin-10 in atherosclerosis

Circulation research, 1999-10, Vol.85 (8), p.e17-e24

1999

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Unexplained polyposis: a challenge for geneticists, pathologists and gastroenterologists

Clinical genetics, 2012-01, Vol.81 (1), p.38-46

2012

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Pulmonary arterial hypertension associated with fenfluramine exposure: report of 109 cases

The European respiratory journal, 2008-02, Vol.31 (2), p.343-348

2008

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Lack of referral for genetic counseling and testing in BRCA1/2 and Lynch syndromes: a nationwide study based on 240,134 consultations and 134,652 genetic tests

Breast cancer research and treatment, 2013-08, Vol.141 (1), p.135-144

2013

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ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension

Clinical genetics, 2012-08, Vol.82 (2), p.173-179

2012

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An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half the variance of serum enzyme levels

The Journal of clinical investigation, 1990-10, Vol.86 (4), p.1343-1346

1990

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Synergistic effects of angiotensin-converting enzyme and angiotensin-II type 1 receptor gene polymorphisms on risk of myocardial infarction

The Lancet (British edition), 1994-10, Vol.344 (8927), p.910-913

1994

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Structure of the angiotensin I-converting enzyme gene. Two alternate promoters correspond to evolutionary steps of a duplicated gene

The Journal of biological chemistry, 1991-08, Vol.266 (23), p.15377-15383

1991

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Angiotensin II Type 1 Receptor Gene Polymorphisms in Human Essential Hypertension

Hypertension (Dallas, Tex. 1979), 1994-07, Vol.24 (1), p.63-69

1994

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Gene Structure, Polymorphism and Mapping of the Human Endothelial Nitric Oxide Synthase Gene

Biochemical and biophysical research communications, 1994-02, Vol.198 (3), p.1027-1033

1994

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Identification of new polymorphisms of the angiotensin I-converting enzyme (ACE) gene, and study of their relationship to plasma ACE levels by two-QTL segregation-linkage analysis

American journal of human genetics, 1996-06, Vol.58 (6), p.1268-1278

1996

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Improvement of pCOR plasmid copy number for pharmaceutical applications

Applied microbiology and biotechnology, 2005-03, Vol.66 (6), p.683-688

2005

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The contribution of germline rearrangements to the spectrum of BRCA2 mutations

Journal of medical genetics, 2006-09, Vol.43 (9), p.e49-e49

2006

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Two Putative Active Centers in Human Angiotensin I-Converting Enzyme Revealed by Molecular Cloning

Proceedings of the National Academy of Sciences - PNAS, 1988-12, Vol.85 (24), p.9386-9390

1988

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Frequent mutation in North African patients with MUTYH-associated polyposis

Clinical genetics, 2011-10, Vol.80 (4), p.389-393

2011

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Clinical Outcomes of Pulmonary Arterial Hypertension in Carriers of BMPR2 Mutation

American journal of respiratory and critical care medicine, 2008-06, Vol.177 (12), p.1377-1383

2008

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Genetic Susceptibility for Human Familial Essential Hypertension in a Region of Homology with Blood Pressure Linkage on Rat Chromosome 10

Human molecular genetics, 1997-11, Vol.6 (12), p.2077-2085

1997

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Medical care of brain malformative vascular diseases discovered during the pre- or neonatal period

Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2013-01, Vol.20 (1), p.74-81

2013

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Polymorphisms of the endothelial nitric oxide synthase gene - no consistent association with myocardial infarction in the ECTIM study

European journal of clinical investigation, 1999-04, Vol.29 (4), p.284-290

1999

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Somatic mutational landscape of extracranial arteriovenous malformations and phenotypic correlations

Discussion à propos de la communication : « Prédispositions héréditaires au cancer de l’endomètre

Prédispositions héréditaires au cancer de l’endomètre

Endoglin germline mutation in a patient with hereditary haemorrhagic telangiectasia and dexfenfluramine associated pulmonary arterial hypertension

Germline RAD51C mutations in ovarian cancer susceptibility

Molecular genetics and clinical features of Chinese idiopathic and heritable pulmonary arterial hypertension patients

Protective role of interleukin-10 in atherosclerosis

Unexplained polyposis: a challenge for geneticists, pathologists and gastroenterologists

Pulmonary arterial hypertension associated with fenfluramine exposure: report of 109 cases

Lack of referral for genetic counseling and testing in BRCA1/2 and Lynch syndromes: a nationwide study based on 240,134 consultations and 134,652 genetic tests

ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension

An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half the variance of serum enzyme levels

Synergistic effects of angiotensin-converting enzyme and angiotensin-II type 1 receptor gene polymorphisms on risk of myocardial infarction

Structure of the angiotensin I-converting enzyme gene. Two alternate promoters correspond to evolutionary steps of a duplicated gene

Angiotensin II Type 1 Receptor Gene Polymorphisms in Human Essential Hypertension

Gene Structure, Polymorphism and Mapping of the Human Endothelial Nitric Oxide Synthase Gene

Identification of new polymorphisms of the angiotensin I-converting enzyme (ACE) gene, and study of their relationship to plasma ACE levels by two-QTL segregation-linkage analysis

Improvement of pCOR plasmid copy number for pharmaceutical applications

The contribution of germline rearrangements to the spectrum of BRCA2 mutations

Two Putative Active Centers in Human Angiotensin I-Converting Enzyme Revealed by Molecular Cloning

Frequent mutation in North African patients with MUTYH-associated polyposis

Clinical Outcomes of Pulmonary Arterial Hypertension in Carriers of BMPR2 Mutation

Genetic Susceptibility for Human Familial Essential Hypertension in a Region of Homology with Blood Pressure Linkage on Rat Chromosome 10

Medical care of brain malformative vascular diseases discovered during the pre- or neonatal period

Polymorphisms of the endothelial nitric oxide synthase gene - no consistent association with myocardial infarction in the ECTIM study

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