Xavier Jeunemaitre

Xavier Jeunemaitre

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Xavier Jeunemaitre

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FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype-phenotype correlations.

Clin Genet 2019 Oct 18;96(4):317-329. Epub 2019 Jul 18.

APHP, UF Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Service de Biochimie Métabolique, Hôpitaux Universitaires de la Pitié- Salpêtrière- Charles Foix, Paris, France.

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http://dx.doi.org/10.1111/cge.13594DOI Listing
October 2019

Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome.

Genet Med 2019 07 26;21(7):1568-1575. Epub 2018 Nov 26.

Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Centre de Référence des Maladies Vasculaires Rares, Paris, France.

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http://www.nature.com/articles/s41436-018-0356-2
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http://dx.doi.org/10.1038/s41436-018-0356-2DOI Listing
July 2019

Natural History and Surgical Management of Colonic Perforations in Vascular Ehlers-Danlos Syndrome: A Retrospective Review.

Dis Colon Rectum 2019 Jul;62(7):859-866

AP-HP, Hôpital Européen Georges Pompidou, Service de génétique, Centre de Référence des Maladies Vasculaires Rares, Paris, France.

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http://dx.doi.org/10.1097/DCR.0000000000001383DOI Listing
July 2019

Pseudoxanthoma elasticum with prominent arterial calcifications evoking CD73 deficiency.

Vasc Med 2019 Jun 4:1358863X19853360. Epub 2019 Jun 4.

1 Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Centre de Référence des Maladies Vasculaires Rares, Paris, France.

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http://dx.doi.org/10.1177/1358863X19853360DOI Listing
June 2019

Natural history of gastrointestinal manifestations in vascular Ehlers-Danlos syndrome: A 17-year retrospective review.

J Gastroenterol Hepatol 2019 May 20;34(5):857-863. Epub 2018 Nov 20.

Service de génétique, Centre de Référence des Maladies Vasculaires Rares, AP-HP, Hôpital Européen Georges Pompidou, Paris, France.

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http://doi.wiley.com/10.1111/jgh.14522
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http://dx.doi.org/10.1111/jgh.14522DOI Listing
May 2019

Severe Arterial Hypertension from Cullin 3 Mutations Is Caused by Both Renal and Vascular Effects.

J Am Soc Nephrol 2019 May 9;30(5):811-823. Epub 2019 Apr 9.

Institut National de la Santé et de la Recherche Médicale U970, Paris Cardiovascular Research Center, Paris, France;

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http://dx.doi.org/10.1681/ASN.2017121307DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6493989PMC
May 2019

Vascular Ehlers-Danlos Syndrome: Long-Term Observational Study.

J Am Coll Cardiol 2019 Apr;73(15):1948-1957

AP-HP, Hôpital Européen Georges Pompidou, Département de Génétique, Centre de Référence des Maladies Vasculaires Rares, Paris, France; INSERM, U 970, Paris Centre de Recherche Cardiovasculaire-PARCC, Paris, France; Université Paris Sorbonne Cité, Faculté de Médecine Paris Descartes, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S07351097193369
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http://dx.doi.org/10.1016/j.jacc.2019.01.058DOI Listing
April 2019

Accuracy of Clinical Diagnostic Criteria for Patients With Vascular Ehlers-Danlos Syndrome in a Tertiary Referral Centre.

Circ Genom Precis Med 2019 Mar;12(3):e001996

AP-HP, Hôpital Européen Georges Pompidou, Département de Génétique, Centre de Référence des Maladies Vasculaires Rares, Paris (P.H., J.A., S.A., A.L.,J.M.M., X.J., M.F.).

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http://dx.doi.org/10.1161/CIRCGEN.117.001996DOI Listing
March 2019

Fibromuscular Dysplasia and Its Neurologic Manifestations: A Systematic Review.

JAMA Neurol 2019 Feb;76(2):217-226

Paris-Descartes University, Institut National de la Santé et de la Recherche Médicale UMR970, Assistance-Publique Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Hypertension Unit, Paris, France.

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http://archneur.jamanetwork.com/article.aspx?doi=10.1001/jam
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http://dx.doi.org/10.1001/jamaneurol.2018.2848DOI Listing
February 2019

Deep Vascular Phenotyping in Patients With Renal Multifocal Fibromuscular Dysplasia.

Hypertension 2019 Feb;73(2):371-378

APHP, Hôpital Européen Georges Pompidou, Hypertension Unit, Paris, France (H.K., A.L., M.F., X.J., S.L., P.B., M.A.).

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http://dx.doi.org/10.1161/HYPERTENSIONAHA.118.12189DOI Listing
February 2019

Accuracy of Clinical Diagnostic Criteria for Patients with Vascular Ehlers-Danlos Syndrome in a Tertiary Referral Centre.

Circ Genom Precis Med 2019 Feb 20. Epub 2019 Feb 20.

AP-HP, Hôpital Européen Georges Pompidou, Département de Génétique, Centre de Référence des Maladies Vasculaires Rares & INSERM, U970, Paris centre de Recherche Cardiovasculaire-PARCC, Paris, France.

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http://dx.doi.org/10.1161/CIRCGENETICS.117.001996DOI Listing
February 2019

Genetic association study between T-786C NOS3 polymorphism and essential hypertension in an Algerian population of the Oran city.

Diabetes Metab Syndr 2019 Mar - Apr;13(2):1317-1320. Epub 2019 Feb 13.

INSERM, UMR970 Paris Cardiovascular Research Center (PARCC), Paris, F-75015, France; Paris-Descartes University, Sorbonne Paris Cité, Paris, 75006, France.

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http://dx.doi.org/10.1016/j.dsx.2019.02.024DOI Listing
February 2019

Influence of centre expertise on the diagnosis and management of hypertrophic cardiomyopathy: A study from the French register of hypertrophic cardiomyopathy (REMY).

Int J Cardiol 2019 Jan 28;275:107-113. Epub 2018 Sep 28.

Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Cardiology Department, Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Paris, France; INSERM CMR970, Paris Cardiovascular Research Center - PARCC, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01675273183146
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http://dx.doi.org/10.1016/j.ijcard.2018.09.083DOI Listing
January 2019

A mouse model of pseudohypoaldosteronism type II reveals a novel mechanism of renal tubular acidosis.

Kidney Int 2018 09 7;94(3):514-523. Epub 2018 Jul 7.

Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche 970, Paris, France; Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche 1188, CYROI, Sainte Clotilde, La Réunion, France; Centre National de la Recherche Scientifique, Délégation Paris Michel-Ange, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00852538183035
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http://dx.doi.org/10.1016/j.kint.2018.05.001DOI Listing
September 2018

Clinical utility gene card: for pseudoxanthoma elasticum.

Eur J Hum Genet 2018 06 27;26(6):919-924. Epub 2018 Feb 27.

Département de Génétique, Service de Médecine Vasculaire et Centre de Référence des Maladies Vasculaires Rares, AP-HP, Hôpital Européen Georges Pompidou, Paris, France.

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http://dx.doi.org/10.1038/s41431-017-0090-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5974343PMC
June 2018

Pathophysiology of carotid-cavernous fistulas in vascular Ehlers-Danlos syndrome: a retrospective cohort and comprehensive review.

Orphanet J Rare Dis 2018 06 25;13(1):100. Epub 2018 Jun 25.

Hôpital Européen Georges Pompidou, Département de Génétique, Centre de Référence des Maladies Vasculaires Rares, Hôpital Européen Georges Pompidou, AP-HP, 20-40 rue Leblanc, 75908, Paris Cedex 15, France.

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http://dx.doi.org/10.1186/s13023-018-0842-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6019721PMC
June 2018

Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies.

Kidney Int 2018 04 15;93(4):961-967. Epub 2018 Feb 15.

Centre for Nephrology, University College London, London, UK; Department of Pediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.kint.2017.10.016DOI Listing
April 2018

Liddle Syndrome: Review of the Literature and Description of a New Case.

Int J Mol Sci 2018 Mar 11;19(3). Epub 2018 Mar 11.

Division of Internal Medicine and Hypertension Unit, Department of Medical Sciences, University of Torino, Via Genova 3, 10126 Torino, Italy.

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http://dx.doi.org/10.3390/ijms19030812DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5877673PMC
March 2018

High Prevalence of Multiple Arterial Bed Lesions in Patients With Fibromuscular Dysplasia: The ARCADIA Registry (Assessment of Renal and Cervical Artery Dysplasia).

Hypertension 2017 09 17;70(3):652-658. Epub 2017 Jul 17.

Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Hypertension Unit (P.-F.P., M.A., L.A.); Department of Radiology (A.A., E.M.), Department of Genetics (X.J.), and Department of Clinical Epidemiology (G.C.); INSERM CIC1418, Paris (M.A., G.C.); Department of Neurology (C.O.) and INSERM U894, Hôpital Sainte-Anne (C.O.), Paris; Faculté de Médecine, Université Paris-Descartes (P.-F.P., M.A., L.A., A.A., E.M., X.J., G.C., C.O.); Department of Cardiology, CHU de Grenoble (J.-P.B., O.O.), Department of Radiology (F.T.), and INSERM U1039 (J.-P.B.), France; Hypertension Unit, CHU Timone, Marseille, France (F.S.); Department of Radiology, CHU Gabriel-Montpied, Clermont-Ferrand, France (L.B.); Hypertension Unit, CHU Rangueil, Toulouse, France (B.B.); Hypertension Unit, Hôpital Cardiologique, Lille, France (C.M.-V.); Normandie Université, University of Caen Normandy, INSERM U919, CHU de Caen, Unité Neurovasculaire, France (E.T.); Department of Vascular Medicine (C.L.H.), Caen, France; Hôpital Saint André, Bordeaux, France (P.G.); Pole of Cardiovascular Research, Institut de Recherche Expérimentale et Clinique (A.P.); Division of Cardiology (A.P.) and Division of Radiology (F.H.), Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.

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http://dx.doi.org/10.1161/HYPERTENSIONAHA.117.09539DOI Listing
September 2017

Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum.

Genet Med 2017 08 19;19(8):909-917. Epub 2017 Jan 19.

AP-HP, Hôpital Européen Georges Pompidou, Département de Génétique, Service de Médecine Vasculaire et Centre de Référence des Maladies Vasculaires Rares, Paris, France.

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http://dx.doi.org/10.1038/gim.2016.213DOI Listing
August 2017

Pseudohypoaldosteronism types I and II: little more than a name in common.

J Pediatr Endocrinol Metab 2017 May;30(5):597-601

Nephrology Department, Hospital Sant Joan de Déu (University of Barcelona), Barcelona.

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http://dx.doi.org/10.1515/jpem-2016-0467DOI Listing
May 2017

Building a Semantic Interoperability Framework for Care and Research in Fibromuscular Dysplasia.

Stud Health Technol Inform 2015 ;216:217-21

INSERM, U1142, LIMICS, F-75006, Paris, France; Sorbonne Universités, UPMC Université Paris 06, UMR_S 1142, LIMICS, F-75006, Paris, France; Université Paris 13, Sorbonne Paris Cité, UMR_S 1142, LIMICS, F-93430, Villetaneuse, France.

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December 2016

The relationship between MTHFR C677T gene polymorphism and essential hypertension in a sample of an Algerian population of Oran city.

Int J Cardiol 2016 Dec 11;225:408-411. Epub 2016 Oct 11.

INSERM, UMR970 Paris Cardiovascular Research Center (PARCC), Paris F-75015, France; Paris-Descartes University, Sorbonne Paris Cité, Paris 75006, France.

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http://dx.doi.org/10.1016/j.ijcard.2016.10.027DOI Listing
December 2016

A "pivot" Model to set up Large Scale Rare Diseases Information Systems: Application to the Fibromuscular Dysplasia Registry.

Stud Health Technol Inform 2015 ;210:887-91

INSERM, U1142, LIMICS, F-75006, Paris, France; Sorbonne Universités, UPMC Univ Paris 06, F-75006, Paris, France; Université Paris 13, Sorbonne Paris Cité, F-93430, Villetaneuse, France.

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November 2016

CACNA1H Mutations Are Associated With Different Forms of Primary Aldosteronism.

EBioMedicine 2016 Nov 4;13:225-236. Epub 2016 Oct 4.

INSERM, UMRS_970, Paris Cardiovascular Research Center, Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Paris, France; Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service de Génétique, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ebiom.2016.10.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5264314PMC
November 2016

Revisiting Fibromuscular Dysplasia: Rationale of the European Fibromuscular Dysplasia Initiative.

Hypertension 2016 10 8;68(4):832-9. Epub 2016 Aug 8.

From the Pole of Cardiovascular Research, Institut de Recherche Expérimentale et Clinique (A.P., E.B.), and Division of Cardiology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium. (A.P.); Department of Internal Medicine, Division of Nephrology and Hypertension, Universitair Ziekenhuis Brussel (Vrije Universiteit Brussel, VUB), Brussel, Belgium, (P.V.D.N.); Normandie Université, UNICAEN, Inserm U919, CHU Côte de Nacre, Caen, 14000 France (E.T.); Department of Cardiology, Ghent University Hospital, Ghent, Belgium (S.G.); Department of Medical Sciences, Internal Medicine and Hypertension Division, AOU Città della Salute e della Scienza, Turin, Italy (E.B.); Fibromuscular Dysplasia Society of America, Rocky River, OH (P.M.); Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Hypertension Unit, F-75015 Paris, France (P.-F.P.); Université Paris-Descartes, Paris Sorbonne Cité, F-75006 Paris, France (P.-F.P.); and Université Paris-Descartes, Paris Sorbonne Cité; AP-HP, Department of Genetics, Hôpital Europeen Georges Pompidou; INSERM, UMR-S 970, PARCC, Paris, France (X.J.).

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http://dx.doi.org/10.1161/HYPERTENSIONAHA.116.07543DOI Listing
October 2016

Caveolin 1 Modulates Aldosterone-Mediated Pathways of Glucose and Lipid Homeostasis.

J Am Heart Assoc 2016 09 28;5(10). Epub 2016 Sep 28.

Division of Endocrinology, Diabetes and Hypertension, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA

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http://dx.doi.org/10.1161/JAHA.116.003845DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121487PMC
September 2016

Observations of a large Dent disease cohort.

Kidney Int 2016 08 22;90(2):430-439. Epub 2016 Jun 22.

INSERM, UMR970, Paris-Cardiovascular Research Center, Paris, France; Reference Centre of Hereditary Renal Disease of the Child and Adult (MARHEA), Paris, France; Assistance Publique-Hôpitaux de Paris, European Georges Pompidou University Hospital, Genetics Department, Paris, France.

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http://dx.doi.org/10.1016/j.kint.2016.04.022DOI Listing
August 2016

SFE/SFHTA/AFCE primary aldosteronism consensus: Introduction and handbook.

Ann Endocrinol (Paris) 2016 Jul 15;77(3):179-86. Epub 2016 Jun 15.

AP-HP, HEGP, Service de Chirurgie Digestive, Générale et Cancérologique, 75015 Paris, France; Endocrinologie, Pavillon des Ecrins, Centre Hospitalier Universitaire de Grenoble, CS 10217, 38043 Grenoble Cedex 9, France. Electronic address:

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http://dx.doi.org/10.1016/j.ando.2016.05.001DOI Listing
July 2016

SFE/SFHTA/AFCE consensus on primary aldosteronism, part 5: Genetic diagnosis of primary aldosteronism.

Ann Endocrinol (Paris) 2016 Jul 15;77(3):214-9. Epub 2016 Jun 15.

INSERM, U970, Paris Cardiovascular Research Center-PARCC, 56, rue Leblanc, 75015 Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Paris, France; Service de génétique, hôpital européen Georges-Pompidou, Assistance publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1016/j.ando.2016.02.006DOI Listing
July 2016

Isolated arterial calcifications of the lower extremities: A clue for NT5E mutation.

Int J Cardiol 2016 Jun 19;212:248-50. Epub 2016 Mar 19.

Dept. of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ijcard.2016.03.068DOI Listing
June 2016

Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences.

J Clin Endocrinol Metab 2016 05 10;101(5):2185-95. Epub 2016 Mar 10.

Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou (R.V.-P., L.M.-H., C.Tra., C.Sim., C.Tre., X.J.), Service de Génétique, Paris, France; INSERM, UMR970 (R.V.-P., L.M.-H., C.Tre., S.R.K., X.J.), Paris-Centre de Recherche Cardiovasculaire, Paris, France; Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (R.V.-P., J.-P.B., V.B., M.-A.M., X.J., P.H.), Paris, France; Faculté de Médecine (L.M.-H., S.Bar., J.-P.B., X.J., P.H.), Université Paris Descartes, Paris, France; Département de Physiologie (S.Bar., J.-P.B., G.M., P.H.), Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France; Service de Néphrologie (V.B., M.-A.M.), Assistance Publique-Hôpitaux de Paris, Hôpital Robert Debré, Paris, France; Service d'Endocrinologie (S.Bel.), Centre Hospitalier de Vienne, Vienne, France; Département de Pédiatrie (F.B.), Centre Hospitalier Universitaire de Rouen, Rouen, France; Service de Pédiatrie (O.C., D.R.), Centre Hospitalier de Niort, Niort, France; Département de Néphrologie (S.C.), Centre Hospitalier Universitaire de Tours, Tours, France; Département de Rhumatologie A (C.C.), Assistance Publique-Hôpitaux de Paris, Hôpital Cochin, Paris, France; Service d'endocrinologie (X.D.), Centre hospitalier Felix Guyon, St Denis de la Réunion, France; Service de Médicine Interne (E.D.), Centre Hospitalier Henri Mondor d'Aurillac, Aurillac, France; Service d'Endocrinologie (C.D.), Centre Hospitalier de Perpignan, Perpignan, France; Département de Physiologie (J.-P.H.), Assistance Publique-Hôpitaux de Paris, Hôpital Tenon, Paris, France; Département d'Endocrinologie (J.-M.K.), Centre Hospitalier Universitaire de Rouen, Rouen, France; Service d'Endocrinologie (G.L.), Centre Hospitalier de Niort, Niort, France; Assistance Publique-Hôpitaux de Paris, Service d'Endocrinologie Pédiatrique (A.L.), Hôpital Kremlin Bicêtre, Le Kremlin-Bicêtre, France; Service d'Endocrinologie

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http://dx.doi.org/10.1210/jc.2015-3442DOI Listing
May 2016

[Fibromuscular dysplasia of renal arteries].

Nephrol Ther 2016 Apr 8;12 Suppl 1:S135-8. Epub 2016 Mar 8.

Unité d'hypertension artérielle, centre de référence des maladies vasculaires rares, hôpital européen Georges-Pompidou, 20, rue Leblanc, 75015 Paris, France.

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https://linkinghub.elsevier.com/retrieve/pii/S17697255160004
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http://dx.doi.org/10.1016/j.nephro.2016.02.011DOI Listing
April 2016

The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.

Eur J Hum Genet 2015 Dec 11;23(12):1657-64. Epub 2015 Mar 11.

AP-HP, Hôpital Européen Georges Pompidou, Département de Génétique, Service de Médecine Vasculaire et Centre de Référence des Maladies Vasculaires Rares, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2015.32DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795191PMC
December 2015

Statin Use and Adrenal Aldosterone Production in Hypertensive and Diabetic Subjects.

Circulation 2015 Nov 2;132(19):1825-33. Epub 2015 Oct 2.

From Division of Endocrinology, Diabetes and Hypertension, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA (R.B., L.H.P., A.V., A.E.G., T.M.Y., J.W., G.K.A., G.H.W.); Department of Endocrinology, School Of Medicine, Pontificia Universidad Catolica De Chile, Santiago, Chile (R.B.); Hospital Clinico, Facultad Medicina Universidad de Chile, Santiago, Chile and Tufts Medical Center, Tufts University School of Medicine, Boston, MA (P.A.V.); Centre Investigation Clinique, Hôpital Européen Georges Pompidou, Assistance Publique-Hôpitaux de Paris, Universite Paris Descartes, Paris, France (X.J.); and Cardiovascular Genetics Research, University of Utah School of Medicine Salt Lake City (P.N.H.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.115.016759DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4641753PMC
November 2015

Clinical utility gene card for: Arterial tortuosity syndrome.

Eur J Hum Genet 2015 Oct 21;23(10). Epub 2015 Jan 21.

AP-HP, Département de Génétique, Hôpital Européen Georges Pompidou, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2014.294DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4592088PMC
October 2015

Exome sequencing in seven families and gene-based association studies indicate genetic heterogeneity and suggest possible candidates for fibromuscular dysplasia.

J Hypertens 2015 Sep;33(9):1802-10; discussion 1810

aINSERM, UMR970 Paris Cardiovascular Research Center (PARCC) bUniversité Paris-Descartes, PRES Sorbonne Paris Cité, Paris, France cDepartment of Health Sciences, Genomic and Bioinformatics Unit dGraduate School of Nephrology, University of Milano, Division of Nephrology, San Paolo Hospital eBiomedical Technologies, Italian National Research Council, Milan, Italy fUniversité Paris 13, Equipe de Recherche en Epidémiologie Nutritionnelle (EREN), Centre d'Epidémiologie et Statistiques Sorbonne Paris Cité, Inserm (U1153), Inra (U1125), Cnam, COMUE Sorbonne Paris Cité, Bobigny gCentre National de Génotypage, Evry hAP-HP, Department of Hypertension iAP-HP, Refferal Center for Rare Vascular Diseases, Hôpital Européen Georges Pompidou, Paris, France.

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http://pdfs.journals.lww.com/jhypertension/2015/09000/Exome_
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http://dx.doi.org/10.1097/HJH.0000000000000625DOI Listing
September 2015

Carotid stiffness change over the cardiac cycle by ultrafast ultrasound imaging in healthy volunteers and vascular Ehlers-Danlos syndrome.

J Hypertens 2015 Sep;33(9):1890-6; discussion 1896

aService de Médecine Vasculaire, Hôpital Européen Georges-Pompidou, Pôle Cardiovasculaire bCentre de Référence National Maladies Vasculaires Rares, Hôpital Européen Georges-Pompidou, Assistance Publique Hôpitaux de Paris - APHP, Université Paris Descartes, Sorbonne Paris Cité, PARCC cInstitut Langevin Ondes et Images, ESPCI ParisTech, CNRS UMR 7587, Inserm, Paris dSuperSonic Imagine, Aix en Provence eCentre d'Investigation Clinique, Hôpital Européen Georges-Pompidou, Assistance Publique Hôpitaux de Paris - APHP, Université Paris Descartes, Sorbonne Paris Cité, Paris, France *Tristan Mirault and Mathieu Pernot contributed equally to the writing of this article.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/HJH.0000000000000617DOI Listing
September 2015

Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.

Hum Mutat 2015 Aug 11;36(8):743-52. Epub 2015 Jun 11.

Assistance Publique-Hôpitaux de Paris, Service de Génétique, Hôpital Européen Georges Pompidou, Paris, France.

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http://dx.doi.org/10.1002/humu.22804DOI Listing
August 2015

Angiotensin II activates the RhoA exchange factor Arhgef1 in humans.

Hypertension 2015 Jun 13;65(6):1273-8. Epub 2015 Apr 13.

From Inserm UMR 1087, CNRS UMR 6291 and University of Nantes, Nantes, France (M.L.C., J.B., G.C., P.P., G.L.); CHU Nantes, l'Institut du Thorax, Nantes, France (P.P., G.L.); Inserm, UMR 970, Paris Cardiovascular Research Center, Paris, France (N.D, X.J.); Université Paris Descartes, Sorbonne Paris Cité, Paris, France (A.B., M.A., X.J.); Assistance Publique, Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France (A.B., M.A., X.J.); Inserm CIC 1418, Paris, France (A.B., M.A.); and Laboratorio di Genomica e Proteomica funzionale, Universta di Bari, Bari, Italy (M.L.C.).

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http://dx.doi.org/10.1161/HYPERTENSIONAHA.114.05065DOI Listing
June 2015

Targeted Knock-Out Mice with Cardiac Hypertrophy Exhibit Structural Mitral Valve Abnormalities.

J Cardiovasc Dev Dis 2015;2(2):48-65. Epub 2015 Apr 21.

Faculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité, Paris 75005 France; Paris Cardiovascular Research Center, INSERM U970, Paris 75016 France; Department of Cardiology, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris 75016 France.

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http://dx.doi.org/10.3390/jcdd2020048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4725593PMC
April 2015

Liddle syndrome phenotype in an octogenarian.

J Clin Hypertens (Greenwich) 2015 Jan 27;17(1):59-60. Epub 2014 Nov 27.

Department of Geriatrics, CHU Saint Pierre, Université Libre de Bruxelles, Brussels, Belgium.

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http://dx.doi.org/10.1111/jch.12450DOI Listing
January 2015

WNK-SPAK-NCC cascade revisited: WNK1 stimulates the activity of the Na-Cl cotransporter via SPAK, an effect antagonized by WNK4.

Hypertension 2014 Nov 11;64(5):1047-53. Epub 2014 Aug 11.

From the Molecular Physiology Unit, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México, México City, Mexico (M.C.-C., M.C.-B., N.V., L.R.-V., G.G.); Department of Nephrology and Mineral Metabolism, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico (M.C.-C., E.M., M.C.-B., N.V., L.R.-V., G.G.); Division of Nephrology and Hypertension, Oregon Health and Science University, Portland (C.Z., N.P.M., S.R., X.J., C.-L.Y., D.H.E.); INSERM UMR970-Paris Cardiovascular Research Center, Paris, France (C.S., E.V.-P., X.J., J.H.); Faculty of Medicine, University Paris-Descartes, Sorbonne Paris Cité, Paris, France (C.S., E.V.-P., J.H.); Escuela de Medicina, Universidad Panamericana, Mexico City, Mexico (D.P.-A.); AP-HP, Department of Genetics, Hôpital Européen Georges Pompidou, Paris, France (X.J.); and Veterans Affairs Medical Center, Portland, OR (D.H.E.).

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http://dx.doi.org/10.1161/HYPERTENSIONAHA.114.04036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832045PMC
November 2014

Genetic spectrum and clinical correlates of somatic mutations in aldosterone-producing adenoma.

Hypertension 2014 Aug 27;64(2):354-61. Epub 2014 May 27.

From the INSERM, UMRS_970, Paris Cardiovascular Research Center, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); University Paris Descartes, Sorbonne Paris Cité, Paris, France (F.L.F.-R., S.B., L.A., T.M., X.J., M.-C.Z.); Service de Génétique (F.L.F.-R., X.J., M.-C.Z.), Unité Hypertension artérielle (L.A.), and Service d'Anatomie Pathologique (T.M.), Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France; Divisions of Internal Medicine and Hypertension, Department of Medical Sciences (T.A.W., S.M., P.M.) and Endocrinology, Diabetes, and Metabolism, Department of Medical Sciences (M.M.), University of Torino, Torino, Italy; Medizinische Klinik und Poliklinik IV, Ludwig-Maximilians-University, Munich, Germany (A.R., F.B., M.R.); Faculty of Medicine, Sorbonne Universités, Université Pierre et Marie Curie Paris 06, Paris, France (O.S.); Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany (T.M.S.); Institute of Human Genetics, Technische Universität München, Munich, Germany (T.M.S.); Endocrine Unit, Department of Medicine (F.M., M.-V.C.) and Department of Medicine (F.F.), University of Padova, Padova, Italy; Clinical Endocrinology, Campus Mitte, University Hospital Charité, Berlin, Germany (M.Q.); Department of Medicine I, Endocrine and Diabetes Unit, University Hospital Würzburg, Würzburg, Germany (B.A.); Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy (G.B.); and Division of Endocrinology, Azienda Ospedaliero-Universitaria Ospedali Riuniti Umberto I-GM Lancisi-G Salesi, Università Politecnica delle Marche, Ancona, Italy (G.G.).

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http://dx.doi.org/10.1161/HYPERTENSIONAHA.114.03419DOI Listing
August 2014

European consensus on the diagnosis and management of fibromuscular dysplasia.

J Hypertens 2014 Jul;32(7):1367-78

aPole of Cardiovascular Research, Institut de Recherche Expérimentale et Clinique, Université Catholique de Louvain bDivision of Cardiology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium cAssistance Publique - Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Hypertension Unit, Paris, France dDepartment of Internal Medicine and Hypertension Center, San Giuseppe Hospital, University of Milan, Milan, Italy eUniversité Caen Basse Normandie, Inserm U919, CHU Côte de Nacre, Caen, France fDepartment of Hypertension, Institute of Cardiology, Warsaw, Poland gAssistance Publique - Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Interventional Radiology Unit, Paris hUniversité Paris-Descartes, Paris Sorbonne Cité, Paris iDepartment of Vascular Surgery, CHU Hôpital Nord, Saint-Etienne jINSERM, U970, PARCC, Paris, France kDepartment of Medicine, University Hospital Maastricht, Maastricht, The Netherlands.

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http://dx.doi.org/10.1097/HJH.0000000000000213DOI Listing
July 2014

Partial genetic deficiency in tissue kallikrein impairs adaptation to high potassium intake in humans.

Kidney Int 2013 Dec 12;84(6):1271-7. Epub 2013 Jun 12.

Faculty of Medicine, Porto University, Porto, Portugal.

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http://dx.doi.org/10.1038/ki.2013.224DOI Listing
December 2013

Association of smoking with phenotype at diagnosis and vascular interventions in patients with renal artery fibromuscular dysplasia.

Hypertension 2013 Jun 22;61(6):1227-32. Epub 2013 Apr 22.

Hypertension Unit, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France.

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http://dx.doi.org/10.1161/HYPERTENSIONAHA.111.00838DOI Listing
June 2013

Abnormal aldosterone physiology and cardiometabolic risk factors.

Hypertension 2013 Apr 11;61(4):886-93. Epub 2013 Feb 11.

Division of Endocrinology, Diabetes, and Hypertension, Brigham and Women's Hospital, Boston, MA 02115, USA.

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http://dx.doi.org/10.1161/HYPERTENSIONAHA.111.00662DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3615445PMC
April 2013

Association between 2 angiographic subtypes of renal artery fibromuscular dysplasia and clinical characteristics.

Circulation 2012 Dec 15;126(25):3062-9. Epub 2012 Nov 15.

Assistance Publique-Hoˆpitaux de Paris, Hoˆpital Europe´en Georges-Pompidou, Hypertension Unit, Paris, F-75015, France.

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http://dx.doi.org/10.1161/CIRCULATIONAHA.112.117499DOI Listing
December 2012

[KLHL3 and CULLIN-3: new genes involved in familial hypertension].

Med Sci (Paris) 2012 Aug-Sep;28(8-9):703-6. Epub 2012 Aug 22.

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http://dx.doi.org/10.1051/medsci/2012288010DOI Listing
October 2012

Different polymorphisms of the mineralocorticoid receptor gene are associated with either glucocorticoid or mineralocorticoid levels in hypertension.

J Clin Endocrinol Metab 2012 Sep 20;97(9):E1825-9. Epub 2012 Jun 20.

Division of Endocrinology, Diabetes, and Hypertension, Brigham and Women's Hospital and Harvard Medical School, 221 Longwood Avenue, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1210/jc.2012-1486DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3431565PMC
September 2012

Integrating genetics and genomics in primary aldosteronism.

Hypertension 2012 Sep 16;60(3):580-8. Epub 2012 Jul 16.

Institut National de la Santé et de la Recherche Médicale, U970, Paris Cardiovascular Research Center-PARCC, 56 rue Leblanc, 75015 Paris, France.

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https://www.ahajournals.org/doi/10.1161/HYPERTENSIONAHA.111.
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http://dx.doi.org/10.1161/HYPERTENSIONAHA.111.188250DOI Listing
September 2012

Gene polymorphisms and cytokine plasma levels as predictive factors of complications after cardiopulmonary bypass.

J Thorac Cardiovasc Surg 2012 Aug 20;144(2):467-73, 473.e1-2. Epub 2012 Jan 20.

Departement de Chirurgie cardio-vasculaire, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Université Paris-Descartes, Sorbonne Paris Cité, Paris, France.

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http://dx.doi.org/10.1016/j.jtcvs.2011.12.022DOI Listing
August 2012

Epithelial to mesenchymal transition is activated in metastatic pheochromocytomas and paragangliomas caused by SDHB gene mutations.

J Clin Endocrinol Metab 2012 Jun 4;97(6):E954-62. Epub 2012 Apr 4.

Centre de recherche cardiovasculaire de l'Hôpital Européen Georges Pompidou, 56 rue Leblanc 75015 Paris, France.

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http://dx.doi.org/10.1210/jc.2011-3437DOI Listing
June 2012

TMEM127 screening in a large cohort of patients with pheochromocytoma and/or paraganglioma.

J Clin Endocrinol Metab 2012 May 14;97(5):E805-9. Epub 2012 Mar 14.

Département de Génétique, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, 75015 Paris, France.

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http://dx.doi.org/10.1210/jc.2011-3360DOI Listing
May 2012

Severe and diffuse arterial lesions in a patient with pseudoxanthoma elasticum.

J Am Coll Cardiol 2012 May;59(22):1991

Vascular Medicine Division, Regional Competence Centre for Rare Vascular Diseases, Nancy University Hospital, Nancy, France.

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https://linkinghub.elsevier.com/retrieve/pii/S07351097120098
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http://dx.doi.org/10.1016/j.jacc.2011.11.067DOI Listing
May 2012

Genomewide association study using a high-density single nucleotide polymorphism array and case-control design identifies a novel essential hypertension susceptibility locus in the promoter region of endothelial NO synthase.

Hypertension 2012 Feb 19;59(2):248-55. Epub 2011 Dec 19.

Department of Medicine, Surgery, and Dentistry, Graduate School of Nephrology, University of Milano, Division of Nephrology, San Paolo Hospital, Milano, Viale Ortles 22/4, 20139 Milano, Italy.

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http://dx.doi.org/10.1161/HYPERTENSIONAHA.111.181990DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3272453PMC
February 2012

A pseudo-dominant form of Gitelman's syndrome.

NDT Plus 2011 Dec 22;4(6):386-9. Epub 2011 Aug 22.

Assistance Publique-Hôpitaux de Paris, Department of Genetics, Hôpital Européen Georges Pompidou, Paris, France ; INSERM, UMRS-970, Paris Cardiovascular Research Center, Paris, France.

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http://dx.doi.org/10.1093/ndtplus/sfr094DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421668PMC
December 2011