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authFullName_s : Bertrand Knebelmann

COVID-19 outbreak in vaccinated patients from a haemodialysis unit: antibody titres as a marker of protection from infection

Idris Boudhabhay , Alexandra Serris , Aude Servais , Delphine Planas , Aurélie Hummel et al.
Nephrology Dialysis Transplantation, 2022, pp.gfac016. ⟨10.1093/ndt/gfac016⟩
Journal articles pasteur-03696758v1

Ostéopathies fragilisantes, maladie rénale chronique, malabsorptions, anomalies biologiques du métabolisme phosphocalcique : les bonnes indications pour un remboursement raisonné du dosage de vitamine D

Jean-Claude Souberbielle , Claude-Laurent Benhamou , Bernard Cortet , Mickael Rousière , Christian Roux et al.
Annales de Biologie Clinique, 2014, 72 (4), pp.385-389. ⟨10.1684/abc.2014.0972⟩
Journal articles hal-01225515v1

Adverse events associated with currently used medical treatments for cystinuria and treatment goals: results from a series of 442 patients in France

Caroline Prot-Bertoye , Saïd Lebbah , Michel Daudon , Isabelle Tostivint , Jean-Philippe Jais et al.
BJU International, 2019, 124 (5), pp.849-861. ⟨10.1111/bju.14721⟩
Journal articles hal-02380892v1

Membranous Nephropathy Associated With Immunological Disorder-Related Liver Disease

Maxime Dauvergne , Anissa Moktefi , Marion Rabant , Cécile Vigneau , Tomek Kofman et al.
Medicine, 2015, 94 (30), pp.e1243. ⟨10.1097/MD.0000000000001243⟩
Journal articles hal-02445576v1

Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome

Smail Hadj-Rabia , Gaelle Brideau , Yasser Al-Sarraj , Rachid C. Maroun , Marie-Lucile Figueres et al.
Genetics in Medicine, 2018, 20 (2), pp.190-201. ⟨10.1038/gim.2017.71⟩
Journal articles hal-02173103v1
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Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1

Lamisse Mansour-Hendili , Anne Blanchard , Nelly Le Pottier , Isabelle Roncelin , Stéphane Lourdel et al.
Human Mutation, 2015, 36 (8), pp.743-752. ⟨10.1002/humu.22804⟩
Journal articles hal-02453168v1
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Clinical and Genetic Spectrum of Bartter Syndrome Type 3

Elsa Seys , Olga Andrini , Mathilde Keck , Lamisse Mansour-Hendili , Pierre-Yves Courand et al.
Journal of the American Society of Nephrology, 2017, 28 (8), pp.2540 - 2552. ⟨10.1681/ASN.2016101057⟩
Journal articles hal-01787263v1
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Red Blood Cell AE1/Band 3 Transports in Dominant Distal Renal Tubular Acidosis Patients

Jean-Philippe Bertocchio , Sandrine Genetet , Lydie da Costa , Stephen B. Walsh , Bertrand Knebelmann et al.
Kidney International Reports, 2020, 5, pp.348 - 357. ⟨10.1016/j.ekir.2019.12.020⟩
Journal articles hal-03490101v1

Targeted therapy in patients with PIK3CA-related overgrowth syndrome

Quitterie Venot , Thomas Blanc , Smail Hadj Rabia , Laureline Berteloot , Sophia Ladraa et al.
Nature, 2018, 558 (7711), pp.540 - 546. ⟨10.1038/s41586-018-0217-9⟩
Journal articles hal-01877949v1

The clinicopathologic characteristics of kidney diseases related to monotypic IgA deposits

Marguerite Vignon , Camille Cohen , Stanislas Faguer , Laure-Hélène Noel , Celine Guilbeau et al.
Kidney International, 2017, 91 (3), pp.720-728. ⟨10.1016/j.kint.2016.10.026⟩
Journal articles hal-01813356v1

Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope

Jaap Groothoff , Ella Metry , Lisa Deesker , Sander Garrelfs , Cecile Acquaviva et al.
Nature Reviews Nephrology, 2023, 19 (3), pp.194-211. ⟨10.1038/s41581-022-00661-1⟩
Journal articles hal-04095825v1
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Safety, efficacy, and acceptability of ADV7103 during 24 months of treatment: an open-label study in pediatric and adult patients with distal renal tubular acidosis

Aurelia Bertholet-Thomas , Catherine Guittet , Maria A. Manso-Silvan , Sophie Joukoff , Victor Navas-Serrano et al.
Pediatric Nephrology, In press, ⟨10.1007/s00467-020-04873-0⟩
Journal articles hal-03188475v1

Erythrocytosis associated with IgA nephropathy

Camille Cohen , Séverine Coulon , Kanit Bhukhai , Antoine Neuraz , Michael Dussiot et al.
EBioMedicine, 2022, 75, pp.103785. ⟨10.1016/j.ebiom.2021.103785⟩
Journal articles hal-03887035v1
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Diagnosis support systems for rare diseases: a scoping review

Carole Faviez , Xiaoyi Chen , Nicolas Garcelon , Antoine Neuraz , Bertrand Knebelmann et al.
Orphanet Journal of Rare Diseases, 2020, 15 (1), pp.94. ⟨10.1186/s13023-020-01374-z⟩
Journal articles hal-02570643v1
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Glomerular endothelial cell senescence drives age‐related kidney disease through PAI‐1

Camille Cohen , Océane Le Goff , Frédéric Soysouvanh , Florence Vasseur , Marine Tanou et al.
EMBO Molecular Medicine, 2021, 13 (11), ⟨10.15252/emmm.202114146⟩
Journal articles irsn-03980928v1
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mTOR inhibitors may benefit kidney transplant recipients with mitochondrial diseases

Simon C. Johnson , Frank Martinez , Alessandro Bitto , Brenda Gonzalez , Cagdas Tazaerslan et al.
Kidney International, 2019, 95, pp.455 - 466. ⟨10.1016/j.kint.2018.08.038⟩
Journal articles hal-03486913v1

Maladie de dépôts d’immunoglobulines monoclonales de type Randall : du diagnostic au traitement

Camille Cohen , Vincent Javaugue , Florent Joly , Bertrand Arnulf , Jean-Paul Fermand et al.
Néphrologie & Thérapeutique, 2016, 12 (3), pp.131-139. ⟨10.1016/j.nephro.2015.12.005⟩
Journal articles hal-02364443v1

CKD and Its Risk Factors among Patients with Cystinuria

Caroline Prot-Bertoye , Saïd Lebbah , Michel Daudon , Isabelle Tostivint , Pierre Bataille et al.
Clinical Journal of the American Society of Nephrology, 2015, 10 (5), pp.842-851. ⟨10.2215/CJN.06680714⟩
Journal articles hal-02081201v1

Randall-type monoclonal immunoglobulin deposition disease: novel insights from a nationwide cohort study

Florent Joly , Camille Cohen , Vincent Javaugue , Sébastien Bender , Mohamed Belmouaz et al.
Blood, 2019, 133 (6), pp.576-587. ⟨10.1182/blood-2018-09-872028⟩
Journal articles hal-02343953v1