Publications by authors named "Rosa Vargas-Poussou"

60Publications

Renin-aldosterone system evaluation over four decades in an extended family with autosomal dominant pseudohypoaldosteronism due to a deletion in the NR3C2 gene.

J Steroid Biochem Mol Biol 2020 Oct 2;204:105755. Epub 2020 Oct 2.

Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service de Génétique, Paris, France; Inserm, PARCC, Université de Paris, F-75015 Paris, France.

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http://dx.doi.org/10.1016/j.jsbmb.2020.105755DOI Listing
October 2020

Aldosterone-Related Myocardial Extracellular Matrix Expansion in Hypertension in Humans: A Proof-of-Concept Study by Cardiac Magnetic Resonance.

JACC Cardiovasc Imaging 2020 Oct 16;13(10):2149-2159. Epub 2020 Sep 16.

Department of Radiology, Hôpital Européen Georges-Pompidou, Assistance Publique-Hôpitaux de Paris, Paris, France; Department of Hypertension, Hôpital Européen Georges-Pompidou, Assistance Publique-Hôpitaux de Paris, Paris, France; Department of Biological & Statistic, Hôpital Européen Georges-Pompidou, Assistance Publique-Hôpitaux de Paris, Paris, France; Université de Paris, Paris, France; Paris Cardiovascular Research Center, French Institute of Health and Medical Research, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jcmg.2020.06.026DOI Listing
October 2020

QT Interval in Adult with Chronic Hypokalemia due to Gitelman Syndrome: Not so Frequently Prolonged.

Clin J Am Soc Nephrol 2020 Aug 12. Epub 2020 Aug 12.

Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Centre d'Investigation Clinique, Paris, France.

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http://dx.doi.org/10.2215/CJN.07540520DOI Listing
August 2020

[Bartter-Gitelman syndromes].

Nephrol Ther 2020 Jul 1;16(4):233-243. Epub 2020 Jul 1.

Département de génétique, hôpital européen Georges-Pompidou, 20, rue Leblanc, 75015 Paris, France; Centre de Référence de maladies rénales rares de l'enfant et de l'adulte (MARHEA), Paris, France.

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http://dx.doi.org/10.1016/j.nephro.2020.06.001DOI Listing
July 2020

Prenatal hyperechogenic kidneys in three cases of infantile hypercalcemia associated with SLC34A1 mutations.

Pediatr Nephrol 2018 10 29;33(10):1723-1729. Epub 2018 Jun 29.

Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), Filière ORKiD, Paris, France.

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http://dx.doi.org/10.1007/s00467-018-3998-zDOI Listing
October 2018

A novel CLCN5 pathogenic mutation supports Dent disease with normal endosomal acidification.

Hum Mutat 2018 08 4;39(8):1139-1149. Epub 2018 Jun 4.

Sorbonne Université, Université Paris-Descartes, INSERM, CNRS, Paris, France.

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http://dx.doi.org/10.1002/humu.23556DOI Listing
August 2018

Distal renal tubular acidosis in two children with acquired hypothyroidism.

Nefrologia 2018 Nov - Dec;38(6):655-659. Epub 2018 Apr 30.

Sección de Nefrología Pediátrica, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, España.

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http://dx.doi.org/10.1016/j.nefro.2017.12.005DOI Listing
October 2019

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

Prenatal diagnosis of Bartter syndrome: amniotic fluid aldosterone.

Ann Biol Clin (Paris) 2017 Apr;75(2):204-208

Service de biochimie-hormonologie, Hôpital Robert Debré, AP-HP, Paris, France, Service de biochimie, Université Versailles Saint-Quentin-en-Yvelines, France.

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http://dx.doi.org/10.1684/abc.2017.1229DOI Listing
April 2017

Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.

Kidney Int 2017 01;91(1):24-33

Hôpital Européen Georges Pompidou, Assistance Publique Hôpitaux de Paris, Centre d'Investigation Clinique, Paris, France; Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, Paris, France.

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http://dx.doi.org/10.1016/j.kint.2016.09.046DOI Listing
January 2017

Fetal urine biochemistry in antenatal Bartter syndrome: a case report.

Clin Case Rep 2016 09 8;4(9):876-8. Epub 2016 Aug 8.

Biochimie-Hormonologie Hôpital Robert Debré APHP Paris France; Université Versailles Saint Quentin en Yvelines Versailles France.

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http://dx.doi.org/10.1002/ccr3.471DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5018593PMC
September 2016

Functionomics of NCC mutations in Gitelman syndrome using a novel mammalian cell-based activity assay.

Am J Physiol Renal Physiol 2016 12 31;311(6):F1159-F1167. Epub 2016 Aug 31.

Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1152/ajprenal.00124.2016DOI Listing
December 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

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

Prenatal diagnosis of Bartter syndrome: amniotic fluid aldosterone.

Prenat Diagn 2016 Jan 1;36(1):88-91. Epub 2015 Dec 1.

Biochimie-Hormonologie, Hôpital Robert Debré, APHP, Paris, France.

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http://dx.doi.org/10.1002/pd.4717DOI Listing
January 2016

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

ClC-K chloride channels: emerging pathophysiology of Bartter syndrome type 3.

Am J Physiol Renal Physiol 2015 Jun 25;308(12):F1324-34. Epub 2015 Mar 25.

UPMC Université Paris 06, UMR_S 1138, Team 3, Paris, France; INSERM, UMR_S 872, Paris, France;

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http://dx.doi.org/10.1152/ajprenal.00004.2015DOI Listing
June 2015

Fanconi syndrome and severe polyuria: an uncommon clinicobiological presentation of a Gitelman syndrome.

BMC Pediatr 2014 Aug 11;14:201. Epub 2014 Aug 11.

Assistance Publique-Hôpitaux de Paris, Service de Néphrologie Pédiatrique, Centre de Référence des Maladies Rénales Héréditaires (MARHEA), Hôpital Necker-Enfants Malades, 149 rue de Sèvres, Paris 75015, France.

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http://bmcpediatr.biomedcentral.com/articles/10.1186/1471-24
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http://dx.doi.org/10.1186/1471-2431-14-201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4131229PMC
August 2014

Indomethacin, amiloride, or eplerenone for treating hypokalemia in Gitelman syndrome.

J Am Soc Nephrol 2015 Feb 10;26(2):468-75. Epub 2014 Jul 10.

Université Paris Descartes, Faculté de Médecine, Sorbonne Paris Cité, Paris, France; Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Centre d'Investigation Clinique, Paris, France; Institut National de la Santé et de la Recherche Médicale, Centre d'Investigation Clinique 1418, Paris, France;

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http://dx.doi.org/10.1681/ASN.2014030293DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4310664PMC
February 2015

p.Ala541Thr variant of MEN1 gene: a non deleterious polymorphism or a pathogenic mutation?

Ann Endocrinol (Paris) 2014 Jul 2;75(3):133-40. Epub 2014 Jul 2.

UMR 5201 génétique, signalisation et cancer, centre Léon-Bérard, 69008 Lyon, France; Laboratoire de génétique moléculaire, hôpital Édouard-Herriot, bâtiment B7, 69347 Lyon cedex 03, France. Electronic address:

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http://dx.doi.org/10.1016/j.ando.2014.05.003DOI Listing
July 2014

Novel CLCNKB mutations causing Bartter syndrome affect channel surface expression.

Hum Mutat 2013 Sep 12;34(9):1269-78. Epub 2013 Jun 12.

UPMC Université Paris 06, UMR_S 872, Laboratoire de Génomique, Physiologie et Physiopathologie Rénales, Paris, France.

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http://dx.doi.org/10.1002/humu.22361DOI Listing
September 2013

[Magnesium disorders].

Nephrol Ther 2012 Nov 28;8(6):482-91. Epub 2012 Sep 28.

Faculté de médecine, université Paris Descartes, 20, rue Leblanc, 75015 Paris, France.

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http://dx.doi.org/10.1016/j.nephro.2012.09.002DOI Listing
November 2012

Localization of tubular adaptation to renal sodium loss in Gitelman syndrome.

Clin J Am Soc Nephrol 2012 Mar 12;7(3):472-8. Epub 2012 Jan 12.

Nephrology Department, Strasbourg University Hospital, France.

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http://dx.doi.org/10.2215/CJN.00940111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3302678PMC
March 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

Renal, ocular, and neuromuscular involvements in patients with CLDN19 mutations.

Clin J Am Soc Nephrol 2011 Feb 28;6(2):355-60. Epub 2010 Oct 28.

Service de Néphrologie et Immunologie Clinique, Centre de Référence des Maladies Rénales Rares, CHU Toulouse, Toulouse Cedex 9, France.

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http://dx.doi.org/10.2215/CJN.02870310DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3052226PMC
February 2011

The mutation c.1196_1202dup7bp (p.Ser402X) in the SLC12A3 gene clusters in Italian Gitelman syndrome patients and reflects the presence of a common ancestor.

Nephrol Dial Transplant 2011 Feb 30;26(2):557-61. Epub 2010 Jul 30.

Dipartimento di Scienze Materno-Infantili, Universita degli Studi di Milano, Laboratorio di Genetica Medica, Fondazione IRCCS Ca’ Granda-Ospedale Maggiore Policlinico, Milan, Italy.

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http://dx.doi.org/10.1093/ndt/gfq458DOI Listing
February 2011

Bartter syndrome prenatal diagnosis based on amniotic fluid biochemical analysis.

Pediatr Res 2010 Mar;67(3):300-3

Nephrologie Pediatrique, Hôpital Robert Debré AP-HP, Paris, France.

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http://dx.doi.org/10.1203/PDR.0b013e3181ca038dDOI Listing
March 2010

Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome.

Nephrol Dial Transplant 2009 May 18;24(5):1455-64. Epub 2008 Dec 18.

Hôpitaux de Toulouse, Université Paul Sabathier, Département de Pédiatrie, Centre de Référence des Maladies Rénales Rares, Toulouse F31000, France.

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http://dx.doi.org/10.1093/ndt/gfn689DOI Listing
May 2009

Evaluating PVALB as a candidate gene for SLC12A3-negative cases of Gitelman's syndrome.

Nephrol Dial Transplant 2008 Oct 9;23(10):3120-5. Epub 2008 May 9.

Division of Nephrology, Université catholique de Louvain, 10 Avenue Hippocrate, Brussels B-1200, Belgium.

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http://dx.doi.org/10.1093/ndt/gfn229DOI Listing
October 2008

Report of a family with two different hereditary diseases leading to early nephrocalcinosis.

Pediatr Nephrol 2008 Jan 26;23(1):149-53. Epub 2007 Sep 26.

Département de Pédiatrie Médicale et Faculté de Médecine et de Pharmacie Rouen, Centre Hospitalier Universitaire de Rouen, Rouen, France.

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http://dx.doi.org/10.1007/s00467-007-0584-1DOI Listing
January 2008

How Bartter's and Gitelman's syndromes, and Dent's disease have provided important insights into the function of three renal chloride channels: ClC-Ka/b and ClC-5.

Nephron Physiol 2006 12;103(1):p7-13. Epub 2005 Dec 12.

Départementde Physiologie, Hôpital Européen Georges Pompidou, Assistance Publique-Hôpitaux de Paris; INSERM U.356, IFR 58, and Rene Descartes University and School of Medicine, Paris, France.

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http://dx.doi.org/10.1159/000090218DOI Listing
August 2006