R. Vargas-Poussou

发表

Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus.

C. Antignac, P. Niaudet, R. Vargas-Poussou, 1997, Journal of the American Society of Nephrology : JASN.

Effect of hydrochlorothiazide on urinary calcium excretion in dent disease: an uncontrolled trial.

B. Boudailliez, P. Niaudet, R. Vargas-Poussou, 2008, American journal of kidney diseases : the official journal of the National Kidney Foundation.

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

M. Keck, S. Lourdel, J. Teulon, 2015, AJP - Renal Physiology.

Observations of a large Dent disease cohort.

D. Kahila, P. Houillier, X. Jeunemaître, 2016, Kidney international.

The variety of genetic defects explains the phenotypic heterogeneity of Familial Hyperkalemic Hypertension

X. Jeunemaître, R. Vargas-Poussou, M. Hureaux, 2021, Kidney international reports.

A mouse model for distal renal tubular acidosis reveals a previously unrecognized role of the V-ATPase a4 subunit in the proximal tubule

Dennis Brown, T. Jentsch, N. Picard, 2012, EMBO molecular medicine.

How the diagnosis and the management of genetic renal phosphate leak impact the life of kidney stone formers?

P. Conort, H. Izzedine, R. Vargas-Poussou, 2022, Urolithiasis.

Treatment and long-term outcome in primary distal renal tubular acidosis.

F. Trepiccione, G. Gambaro, Z. Gucev, 2019, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Primary Hyperparathyroidism in Homozygous Sickle Cell Patients: A Hemolysis-Mediated Hypocalciuric Hypercalcemia Phenotype?

V. Frochot, E. Letavernier, J. Haymann, 2021, Journal of clinical medicine.

Pro-FHH: A Risk Equation to Facilitate the Diagnosis of Parathyroid-Related Hypercalcemia

L. Rejnmark, P. Houillier, J. Souberbielle, 2018, The Journal of clinical endocrinology and metabolism.

Investigation of Vestibular Function in Adult Patients with Gitelman Syndrome: Results of an Observational Study

R. Vargas-Poussou, J. Nevoux, J. Papon, 2020, Journal of clinical medicine.

When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20

T. Frebourg, K. Cassinari, S. Chantot-Bastaraud, 2021, Molecular Cytogenetics.

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

A. Benachi, R. Salomon, R. Vargas-Poussou, 2018, Pediatric Nephrology.

University of Groningen Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome Vargas-Poussou,

C. Antignac, F. Hildebrandt, L. Guay-Woodford, 2007 .

Mutations in the vasopressin V2 receptor and aquaporin-2 genes in twelve families with congenital nephrogenic diabetes insipidus.

C. Antignac, P. Niaudet, R. Vargas-Poussou, 1998, Advances in experimental medicine and biology.

Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.

P. Houillier, X. Jeunemaître, R. Salomon, 2006, Journal of the American Society of Nephrology : JASN.

Signification of distal urinary acidification defects in hypocitraturic patients

P. Houillier, S. Baron, R. Vargas-Poussou, 2017, PloS one.

Resistance to Insulin in Patients with Gitelman Syndrome and a Subtle Intermediate Phenotype in Heterozygous Carriers: A Cross-Sectional Study.

P. Houillier, X. Jeunemaître, J. Haymann, 2019, Journal of the American Society of Nephrology : JASN.

Persistently high urine glucose levels caused by familial renal glycosuria.

R. Vargas-Poussou, D. Djeddi, M. Hureaux, 2020, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

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

M. Polak, P. Houillier, X. Jeunemaître, 2016, The Journal of clinical endocrinology and metabolism.

Distal Renal Tubular Acidosis: ERKNet/ESPN Clinical Practice Points.

F. Trepiccione, V. Tasic, R. Camilla, 2021, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

É. Mousseaux, A. Redheuil, N. Kachenoura, 2020, JACC. Cardiovascular imaging.

Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome.

P. Houillier, X. Jeunemaître, C. Antignac, 2002, Journal of the American Society of Nephrology : JASN.

Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome.

C. Antignac, F. Hildebrandt, L. Guay-Woodford, 2000, Journal of the American Society of Nephrology : JASN.

Clinical Characteristics of Familial Hypocalciuric Hypercalcaemia Type 1: A Multicentre Study of 77 Adult Patients.

A. Tabarin, J. Haymann, P. Caron, 2020, Clinical Endocrinology.

High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults.

K. Dahan, P. Houillier, X. Jeunemaître, 2019, Kidney international.

Prenatal bone abnormalities in three cases of familial hypocalciuric hypercalcemia

C. Garel, R. Vargas-Poussou, V. Baudouin, 2022, Prenatal diagnosis.

Pathophysiological aspects of the thick ascending limb and novel genetic defects: HELIX syndrome and transient antenatal Bartter syndrome

R. Vargas-Poussou, 2021, Pediatric Nephrology.

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

L. Rostaing, D. Chauveau, P. Cintas, 2011, Clinical journal of the American Society of Nephrology : CJASN.

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

T. Hannedouche, R. Vargas-Poussou, B. Moulin, 2012, Clinical journal of the American Society of Nephrology : CJASN.

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

V. Hervieu, P. Ruszniewski, F. Borson‐Chazot, 2014, Annales d'endocrinologie.

Claudin‐16 Deficiency Impairs Tight Junction Function in Ameloblasts, Leading to Abnormal Enamel Formation

J. Fricain, J. Hou, P. Houillier, 2016, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[Gordon syndrome: The importance of measuring blood pressure in children].

X. Jeunemaître, A. Labbé, R. Vargas-Poussou, 2016, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

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

D. Bolignano, D. Ellison, O. Devuyst, 2017, Kidney international.

A pseudo-dominant form of Gitelman’s syndrome

A. Vénisse, P. Houillier, X. Jeunemaître, 2011, NDT plus.

Spectrum of mutations in Gitelman syndrome.

D. Kahila, A. Vénisse, K. Dahan, 2011, Journal of the American Society of Nephrology : JASN.

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.

A. Bettinelli, G. Colussi, R. Vargas-Poussou, 2011, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

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

A. Vénisse, K. Dahan, X. Jeunemaître, 2018, Kidney international.

Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome

A. Blanchard, M. Konrad, K. Neveling, 2022, Journal of the American Society of Nephrology : JASN.

A Rare Cause of Chronic Hypokalemia with Metabolic Alkalosis: Case Report and Differential Diagnosis

D. Bockenhauer, Claudio La Scola, R. Vargas-Poussou, 2020, Children.

Does hypokalaemia cause nephropathy? An observational study of renal function in patients with Bartter or Gitelman syndrome.

P. Houillier, R. Unwin, S. Walsh, 2011, QJM : monthly journal of the Association of Physicians.

Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study

F. Trepiccione, P. Houillier, L. Weber, 2022, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice

G. Remuzzi, K. Dahan, C. Antignac, 2021, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.

H. Debaix, P. Houillier, B. Knebelmann, 2021, Journal of the American Society of Nephrology : JASN.

Severe bladder dysfunction in a family with ADH receptor gene mutation responsible for X-linked nephrogenic diabetes insipidus.

G. Deschênes, A. Bensman, V. Forin, 2004, Nephrology, Dialysis and Transplantation.

Distal renal tubular acidosis and ovalocytosis: a case report

B. Mazières, J. Corberand, R. Vargas-Poussou, 2007, Osteoporosis International.

Genome-Wide Meta-Analysis Unravels Interactions between Magnesium Homeostasis and Metabolic Phenotypes.

I. Deary, Z. Kutalik, S. Bergmann, 2017, Journal of the American Society of Nephrology : JASN.

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

M. Zennaro, Z. Landau, R. Vargas-Poussou, 2020, The Journal of Steroid Biochemistry and Molecular Biology.

Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations

J. Fricain, M. de La Dure-Molla, A. Acevedo, 2016, Journal of Medical Genetics.

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

C. Guyot, X. Jeunemaître, G. Deschênes, 2009, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

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

A. Caumont-Prim, S. Baron, M. Essig, 2015, Journal of the American Society of Nephrology : JASN.

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

G. Deschênes, O. Lahuna, S. Lourdel, 2018, Human mutation.

Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome

C. Bodemer, P. Houillier, P. Curmi, 2017, Genetics in Medicine.

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

K. Dahan, X. Jeunemaître, O. Devuyst, 2008, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1

K. Dahan, P. Houillier, X. Jeunemaître, 2015, Human mutation.

Red Blood Cell AE1/Band 3 Transports in Dominant Distal Renal Tubular Acidosis Patients

L. D. Da Costa, B. Knebelmann, S. Walsh, 2020, Kidney international reports.

Clinical and Genetic Spectrum of Bartter Syndrome Type 3.

B. Knebelmann, G. Deschênes, S. Lemoine, 2017, Journal of the American Society of Nephrology : JASN.

Mutations affecting the conserved acidic WNK1 motif cause inherited hyperkalemic hyperchloremic acidosis.

P. Welling, X. Jeunemaître, G. Gamba, 2020, The Journal of clinical investigation.

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations.

Xavier Jeunemaitre, Pierre Cochat, Marion Vallet, 2012, Clinical journal of the American Society of Nephrology : CJASN.

Calcium Pyrophosphate Crystal Deposition in a Cohort of 57 Patients with Gitelman Syndrome.

V. Frochot, R. Vargas-Poussou, P. Richette, 2021, Rheumatology.

mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy

D. Sabatini, E. Schulze-Bahr, B. Schermer, 2021, Journal of the American Society of Nephrology : JASN.

Genetic Origin of Renal Tubular Acidosis

R. Vargas-Poussou, Laura Escobar-Pérez, 2022, Renal Tubular Acidosis in Children.

Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families

C. Simian, M. Medeiros, R. Vargas-Poussou, 2016, Molecular genetics & genomic medicine.

OP-NDTJ210220 1..16

G. Remuzzi, K. Dahan, C. Antignac, 2021 .

CLCNKB mutations causing mild Bartter syndrome profoundly alter the pH and Ca2+ dependence of ClC-Kb channels

M. Keck, S. Lourdel, J. Teulon, 2014, Pflügers Archiv - European Journal of Physiology.

Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss

N. Mohebbi, B. Schuknecht, R. Vargas-Poussou, 2013, Clinical genetics.

Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders.

G. Capasso, F. Trepiccione, M. Konrad, 2021, Kidney international.

Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome.

R. Salomon, G. Deschênes, F. Broux, 2017, Clinical journal of the American Society of Nephrology : CJASN.

CLCNKB mutations causing mild Bartter syndrome profoundly alter the pH and Ca2+ dependence of ClC-Kb channels

A. Blanchard, M. Keck, S. Lourdel, 2013, Pflügers Archiv - European Journal of Physiology.

Novel CLCNKB Mutations Causing Bartter Syndrome Affect Channel Surface Expression

O. Lahuna, M. Keck, S. Lourdel, 2013, Human mutation.

Distal renal tubular acidosis in two children with acquired hypothyroidism

R. Vargas-Poussou, V. Garcia-Nieto, Norma E. Guerra-Hernández, 2018, Nefrología (English Edition).

New insights into the role of endoplasmic reticulum‐associated degradation in Bartter Syndrome Type 1

Yingying Zhu, Sylvie Demaretz, K. Laghmani, 2021, Human mutation.

Magnesium Disorders.

R. Touyz, R. Vargas-Poussou, A. Blanchard, 2024, The New England journal of medicine.

Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA

E. Bongers, M. Shenoy, R. Rodenburg, 2021, Journal of the American Society of Nephrology : JASN.

mTOR-activating mutations in RRAGD cause kidney tubulopathy and cardiomyopathy (KICA) syndrome

D. Sabatini, E. Schulze-Bahr, B. Schermer, 2021, bioRxiv.

Clinical utility gene card for: familial hypomagnesemia with hypercalciuria and nephrocalcinosis with/without severe ocular involvement

F. Claverie-Martin, R. Vargas-Poussou, D. Müller, 2014, European Journal of Human Genetics.

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

X. Jeunemaître, R. Vargas-Poussou, A. Blanchard, 2008, Pediatric Nephrology.

Genetic basis of nephrogenic diabetes insipidus

R. Vargas-Poussou, M. Hureaux, 2022, Molecular and Cellular Endocrinology.

Prenatal diagnosis of Bartter syndrome: amniotic fluid aldosterone

J. Oury, G. Deschênes, R. Vargas-Poussou, 2016, Prenatal diagnosis.

Bartter Syndrome Prenatal Diagnosis Based on Amniotic Fluid Biochemical Analysis

J. Oury, A. Benachi, G. Deschênes, 2010, Pediatric Research.

Relationship between clinical phenotype and in vitro analysis of 13 NPT2c/SCL34A3 mutants

E. Letavernier, R. Vargas-Poussou, D. Prié, 2023, Scientific Reports.

Diversity of functional alterations of the ClC‐5 exchanger in the region of the proton glutamate in patients with Dent disease 1

W. González, S. Lourdel, R. Vargas-Poussou, 2021, Human mutation.

Novel CLCN5 mutations in patients with Dent's disease result in altered ion currents or impaired exchanger processing.

S. Lourdel, J. Teulon, R. Vargas-Poussou, 2009, Kidney international.

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

M. Briet, P. Houillier, S. Lourdel, 2006, Nephron Physiology.

Possible role for rare TRPM7 variants in patients with hypomagnesaemia with secondary hypocalcaemia

P. Houillier, F. Claverie-Martin, J. Hoenderop, 2022, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome.

C. Antignac, F. Hildebrandt, L. Guay-Woodford, 1998, American journal of human genetics.

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

Á. Valdez-Ortiz, J. Hoenderop, S. Verkaart, 2016, American journal of physiology. Renal physiology.

The Case | Severe hypertension and hyperkalemia in a kidney transplant recipient.

P. Rieu, R. Vargas-Poussou, V. Vuiblet, 2019, Kidney international.

A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry.

E. Coto, H. Gil-Peña, R. Vargas-Poussou, 2017, Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia.

Gitelman Syndrome: Consensus and Guidance From a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

D. Bolignano, D. Ellison, O. Devuyst, 2017 .

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

R. Vargas-Poussou, A. Blanchard, M. Azizi, 2020, American Society of Nephrology. Clinical Journal.

Clinical Findings and Genetic Analysis of Nine Mexican Families with Bartter Syndrome.

R. Vargas-Poussou, M. Hureaux, María Dolores Camargo-Muñiz, 2023, Archives of medical research.

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

M. Keck, S. Lourdel, J. Teulon, 2015, American journal of physiology. Renal physiology.

Recurrent Nephrolithiasis in a Patient With Hypercalcemia and Normal to Mildly Elevated Parathyroid Hormone.

N. Mohebbi, R. Vargas-Poussou, H. Seeger, 2021, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Prevalence of kidney failure in adults diagnosed with hereditary tubulopathies.

R. Vargas-Poussou, M. Hureaux, Maureen Betton, 2024, Journal of nephrology.

Diversity of functional alterations of the ClC‐5 exchanger in the region of the proton glutamate in patients with Dent disease 1

W. González, S. Lourdel, R. Vargas-Poussou, 2020, Human mutation.