B. Knebelmann

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Therapeutic mTOR Inhibition in Autosomal Dominant Polycystic Kidney Disease: What Is the Appropriate Serum Level?

E. Letavernier, G. Canaud, P. Harris, 2010, American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons.

Autosomal dominant polycystic kidney disease: the changing face of clinical management

G. Walz, B. Knebelmann, O. Devuyst, 2015, The Lancet.

Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome.

C. Antignac, B. Knebelmann, J. Saus, 1995, Human molecular genetics.

P. Burgel, B. Knebelmann, D. Joly, 2012, Investigational New Drugs.

Mesangial IgG glomerulonephritis: a distinct type of primary glomerulonephritis.

D. Droz, B. Knebelmann, D. Chauveau, 2002, Journal of the American Society of Nephrology : JASN.

Observations of a large Dent disease cohort.

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

Impaired formation of desmosomal junctions in ADPKD epithelia

O. Ibraghimov-Beskrovnaya, H. Husson, N. Bukanov, 2005, Histochemistry and Cell Biology.

Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large‐scale rearrangements and splicing variants

T. Frebourg, B. Knebelmann, Abdellah Tebani, 2017, Molecular genetics & genomic medicine.

Screening for intracranial aneurysms in autosomal dominant polycystic kidney disease is cost-effective.

B. Knebelmann, J. Grünfeld, D. Joly, 2017, Kidney international.

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.

Steven J. M. Jones, I. Krantz, M. Brown, 2013, American journal of human genetics.

Study Design and Baseline Characteristics of the CARDINAL Trial: A Phase 3 Study of Bardoxolone Methyl in Patients with Alport Syndrome

S. Bangalore, A. Chapman, L. Inker, 2021, American Journal of Nephrology.

[Weakening osteopathies, chronic kidney disease, malabsorption, biological anomalies of calium/phosphorus metabolism: appropriate indications for a reasoned reimbursment of serum vitamin D measurement].

P. Chanson, C. Annweiler, O. Beauchet, 2014, Annales de biologie clinique.

Membranous Nephropathy Associated With Immunological Disorder-Related Liver Disease

N. Rioux-Leclercq, K. Dahan, E. Daugas, 2015, Medicine.

Rituximab in severe lupus nephritis: early B-cell depletion affects long-term renal outcome.

C. Elie, E. Daugas, B. Knebelmann, 2009, Clinical journal of the American Society of Nephrology : CJASN.

Glomerular endothelial cell senescence drives age‐related kidney disease through PAI‐1

F. Milliat, B. Knebelmann, F. Terzi, 2021, EMBO molecular medicine.

Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations.

K. Dahan, C. Antignac, D. Lacombe, 2011, Clinical journal of the American Society of Nephrology : CJASN.

Erythrocytosis associated with IgA nephropathy

A. Neuraz, N. Casadevall, B. Knebelmann, 2021, EBioMedicine.

Endoplasmic reticulum stress drives proteinuria-induced kidney lesions via Lipocalin 2

G. Mollet, C. Antignac, B. Knebelmann, 2016, Nature Communications.

Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome

R. Salomon, B. Knebelmann, J. Grünfeld, 2006, Journal of Medical Genetics.

APOL1 risk genotype in European steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis patients of different African ancestries.

O. Gribouval, C. Antignac, B. Knebelmann, 2018, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

An International Cohort Study of Autosomal Dominant Tubulointerstitial Kidney Disease due to REN Mutations Identifies Distinct Clinical Subtypes.

K. Tory, C. Shaw-Smith, A. Jakubowska, 2020, Kidney international.

Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.

R. Salomon, C. Antignac, B. Knebelmann, 2010, Clinical journal of the American Society of Nephrology : CJASN.

Hepatic Production of Fibroblast Growth Factor 23 in Autosomal Dominant Polycystic Kidney Disease

V. Paradis, B. Knebelmann, J. Correas, 2018, The Journal of clinical endocrinology and metabolism.

Improving mutation screening in familial hematuric nephropathies through next generation sequencing.

K. Dahan, C. Antignac, C. Bole-Feysot, 2014, Journal of the American Society of Nephrology : JASN.

Clinical practice recommendations for the treatment of Alport syndrome: a statement of the Alport Syndrome Research Collaborative

Jie Ding, M. Gregory, B. Knebelmann, 2012, Pediatric Nephrology.

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

B. Knebelmann, V. Gnemmi, J. Goujon, 2019, Blood.

Complete remission of lupus nephritis with rituximab and steroids for induction and rituximab alone for maintenance therapy.

B. Knebelmann, F. Fakhouri, L. Noël, 2008, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression.

C. Antignac, F. Gros, B. Knebelmann, 1994, The Journal of clinical investigation.

Deletion of the donor splice site of intron 4 in the glucokinase gene causes maturity-onset diabetes of the young.

M. Vaxillaire, H. Zouali, S. Lesage, 1993, The Journal of clinical investigation.

Kringle 5 causes cell cycle arrest and apoptosis of endothelial cells.

V. Sukhatme, M. Waterman, B. Knebelmann, 1999, Biochemical and biophysical research communications.

Autosomal recessive Alport syndrome: immunohistochemical study of type IV collagen chain distribution.

C. Antignac, C. Antignac, M. Gubler, 1995, Kidney international.

Autosomal dominant polycystic kidney disease: from molecular genetics to the patients

B. Knebelmann, D. Chauveau, J. Grünfeld, 1992, The clinical investigator.

Rapamycin inhibits human renal epithelial cell proliferation: effect on cyclin D3 mRNA expression and stability.

P. Beaune, P. Meria, B. Knebelmann, 2005, Kidney international.

Anti-CTLA4 antibody-induced lupus nephritis.

B. Knebelmann, F. Fadel, K. El Karoui, 2009, The New England journal of medicine.

Treatment of bevacizumab-induced hypertension by amlodipine

O. Mir, F. Goldwasser, B. Knebelmann, 2012, Investigational New Drugs.

Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.

P. Trouvé, P. Harris, B. Knebelmann, 2022, American journal of human genetics.

Transforming Growth Factor b 1 Is a Target for the von Hippel-Lindau Tumor Suppressor and a Critical Growth Factor for Clear Cell Renal Carcinoma 1

V. Sukhatme, G. Walz, B. Knebelmann, 2000 .

Anti-Müllerian hormone and intersex states

B. Knebelmann, J. Picard, C. Nihoul-Fékété, 1991, Trends in Endocrinology & Metabolism.

Establishing a core outcome measure for pain in patients with autosomal dominant polycystic kidney disease: a consensus workshop report

J. Craig, M. Howell, N. Evangelidis, 2021, Clinical kidney journal.

A molecular approach to inherited kidney disorders.

C. Antignac, B. Knebelmann, J. Grünfeld, 1993, Kidney international.

Transforming growth factor alpha is a target for the von Hippel-Lindau tumor suppressor.

V. Sukhatme, B. Knebelmann, H. T. Cohen, 1998, Cancer research.

Efficacy and safety of an innovative prolonged-release combination drug in patients with distal renal tubular acidosis: an open-label comparative trial versus standard of care treatments

B. Knebelmann, M. Di Maio, G. Roussey-Kesler, 2020, Pediatric Nephrology.

[Inherited monogenic kidney stone diseases: recent diagnostic and therapeutic advances].

M. Daudon, P. Jungers, B. Knebelmann, 2008, Nephrologie & therapeutique.

Enzyme therapy for Fabry's disease: registered for success?

B. Knebelmann, C. Kurschat, R. Thadhani, 2009, The Lancet.

Beta4 integrin and laminin 5 are aberrantly expressed in polycystic kidney disease: role in increased cell adhesion and migration.

A. Ruello, B. Knebelmann, D. Joly, 2003, The American journal of pathology.

Substitution of arginine for glycine 325 in the collagen alpha 5 (IV) chain associated with X-linked Alport syndrome: characterization of the mutation by direct sequencing of PCR-amplified lymphoblast cDNA fragments.

C. Antignac, M. Gubler, B. Knebelmann, 1992, American journal of human genetics.

AA amyloidosis associated with Fabry disease

B. Knebelmann, S. Georgin-lavialle, S. Deshayes, 2020, International journal of clinical practice.

Factor H, membrane cofactor protein, and factor I mutations in patients with hemolysis, elevated liver enzymes, and low platelet count syndrome.

A. Benachi, B. Knebelmann, Y. Pirson, 2008, Blood.

Role of HOXA7 to HOXA13 and PBX1 genes in various forms of MRKH syndrome (congenital absence of uterus and vagina)

B. Knebelmann, S. Odent, A. Burel, 2006, Journal of Negative Results in Biomedicine.

Role of elongin-binding domain of von hippel lindau gene product on HuR-mediated VPF/VEGF mRNA stability in renal cell carcinoma

D. Mukhopadhyay, B. Knebelmann, Jinping Li, 2005, Oncogene.

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

B. Knebelmann, M. Di Maio, G. Roussey-Kesler, 2021, Pediatric Nephrology.

[Cystinuria].

B. Knebelmann, M. Daudon, M. Courbebaisse, 2021, Nephrologie & therapeutique.

Cystine crystal volume determination: a useful tool in the management of cystinuric patients

M. Daudon, P. Jungers, B. Knebelmann, 2003, Urological Research.

Hereditary nephritis with macrothrombocytopenia: no longer an Alport syndrome variant.

B. Knebelmann, F. Fakhouri, J. Grünfeld, 2001, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Effects of Bardoxolone Methyl in Alport Syndrome

S. Bangalore, A. Chapman, L. Inker, 2021, Clinical journal of the American Society of Nephrology : CJASN.

Aberrant splicing of the COL4A5 gene in patients with Alport syndrome.

H. Smeets, H. Brunner, L. Kluijtmans, 1994, Human molecular genetics.

Adenine phosphoribosyltransferase deficiency.

M. Daudon, B. Knebelmann, A. Bensman, 2012, Clinical journal of the American Society of Nephrology : CJASN.

SP120CHANGE IN GLOMERULAR FILTRATION RATE AND RENAL BIOMARKERS IN PATIENTS WITH CHRONIC KIDNEY DISEASE DUE TO ALPORT SYNDROME: INTERIM RESULTS FROM THE ATHENA STUDY, A PROSPECTIVELY DESIGNED NATURAL HISTORY STUDY

J. Simon, G. Appel, B. Knebelmann, 2016 .

[Renal involvement during type 1 cryoglobulinemia].

B. Knebelmann, D. Joly, M. Alyanakian, 2016, Nephrologie & therapeutique.

The STAGED-PKD 2-Stage Adaptive Study With a Patient Enrichment Strategy and Treatment Effect Modeling for Improved Study Design Efficiency in Patients With ADPKD

R. Gansevoort, A. Chapman, M. Mrug, 2022, Kidney medicine.

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.

Inherited kidney diseases: polycystic kidney disease and Alport syndrome.

B. Knebelmann, D. Chauveau, J. Grünfeld, 1995, Advances in internal medicine.

Multicentric Carpotarsal Osteolysis Syndrome Associated Nephropathy: Novel Variants of MAFB Gene and Literature Review

G. Ghiggeri, G. Caridi, F. Lugani, 2022, Journal of clinical medicine.

Genetic Diagnosis and Counseling in Inherited Renal Diseases

G. Choukroun, B. Knebelmann, J. Grünfeld, 1998 .

Collagen α5 and α2(IV) chain coexpression: Analysis of skin biopsies of Alport patients

B. Knebelmann, M. Garfa, L. Noël, 2007 .

Alport syndrome and diffuse leiomyomatosis: deletions in the 5' end of the COL4A5 collagen gene.

M. Sanak, C. Antignac, B. Knebelmann, 1992, Kidney international.

Case report and literature review

B. Knebelmann, F. Suarez, L. Noël, 2016, Medicine.

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

J. Jais, M. Daudon, P. Meria, 2019, BJU international.

Cystinuria: clinical practice recommendation.

M. Bultitude, M. Daudon, S. Doizi, 2020, Kidney international.

Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency.

M. Daudon, B. Knebelmann, A. Bensman, 2010, Journal of the American Society of Nephrology : JASN.

CKD and Its Risk Factors among Patients with Cystinuria.

M. Daudon, P. Meria, O. Traxer, 2015, Clinical journal of the American Society of Nephrology : CJASN.

2,8-Dihydroxyadenine Urolithiasis: A Not So Rare Inborn Error of Purine Metabolism

M. Daudon, B. Knebelmann, A. Bensman, 2014, Nucleosides, nucleotides & nucleic acids.

Adenine Phosphoribosyltransferase Deﬁciency

M. Daudon, B. Knebelmann, A. Bensman, 2012 .

Granulomatous renal disease in a patient with common variable immunodeficiency.

D. Droz, B. Knebelmann, F. Fakhouri, 2001, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease

D. Lacombe, B. Knebelmann, E. Hachulla, 2021, Clinical genetics.

Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes.

Corinne Antignac, Bertrand Knebelmann, C. Antignac, 2002, Journal of the American Society of Nephrology : JASN.

Steroid-sensitive nephrotic syndrome: from childhood to adulthood.

Paul Landais, Bertrand Knebelmann, B. Knebelmann, 2003, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Transforming Growth Factor β1 Is a Target for the von Hippel-Lindau Tumor Suppressor and a Critical Growth Factor for Clear Cell Renal Carcinoma

V. Sukhatme, G. Walz, B. Knebelmann, 1999 .

Transforming growth factor beta1 is a target for the von Hippel-Lindau tumor suppressor and a critical growth factor for clear cell renal carcinoma.

V. Sukhatme, G. Walz, B. Knebelmann, 1999, Cancer research.

Targeted therapy in patients with PIK3CA-related overgrowth syndrome

Laureline Berteloot, Nicolas Grenier, Nathalie Boddaert, 2018, Nature.

[Molecular biology of normal and pathologic anti-müllerian hormone].

S. Imbeaud, B. Knebelmann, J. Picard, 1991, Annales d'endocrinologie.

Transforming Growth Factor α Is a Target for the Von Hippel-Lindau Tumor Suppressor

V. Sukhatme, B. Knebelmann, H. T. Cohen, 1998 .

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

B. Knebelmann, D. Joly, O. Schwartz, 2022, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Targeted therapy in patients with PIK3CA-related overgrowth syndrome

N. Boddaert, S. Pannier, G. Canaud, 2018, Nature.

Endostatin Induces Endothelial Cell Apoptosis*

V. Sukhatme, M. Waterman, B. Knebelmann, 1999, The Journal of Biological Chemistry.

VHL tumor suppressor regulates Cl-/HCO3- exchange and Na+/H+ exchange activities in renal carcinoma cells.

V. Sukhatme, Lianwei Jiang, S. Alper, 2001, Physiological genomics.

VHL tumor suppressor regulates Cl 2 / HCO 3 2 exchange and Na 1 / H 1 exchange activities in renal carcinoma cells

V. Sukhatme, Lianwei Jiang, S. Alper, 2001 .

An important von Hippel-Lindau tumor suppressor domain mediates Sp1-binding and self-association.

D. Mukhopadhyay, B. Zbar, H. Scholz, 1999, Biochemical and biophysical research communications.

The von Hippel-Lindau tumor suppressor gene product interacts with Sp1 to repress vascular endothelial growth factor promoter activity

D. Mukhopadhyay, V. Sukhatme, B. Knebelmann, 1997, Molecular and cellular biology.

Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome

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

The man with “milk-shake” urine

B. Knebelmann, J. Correas, F. Fakhouri, 2004, The Lancet.

Lipocalin 2 is essential for chronic kidney disease progression in mice and humans.

T. Mak, B. Knebelmann, F. Terzi, 2010, The Journal of clinical investigation.

The clinicopathologic characteristics of kidney diseases related to monotypic IgA deposits.

B. Knebelmann, D. Chauveau, L. Noel, 2017, Kidney international.

Diagnosis support systems for rare diseases: a scoping review

Nicolas Garcelon, Stanislas Lyonnet, Anita Burgun, 2020, Orphanet Journal of Rare Diseases.

Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1

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

Post-allogeneic haematopoietic stem cell transplantation membranous nephropathy: clinical presentation, outcome and pathogenic aspects.

B. Knebelmann, C. Combe, F. Glowacki, 2007, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Recurrent 2,8‐Dihydroxyadenine Nephropathy: A Rare but Preventable Cause of Renal Allograft Failure

U. Maggiore, M. Daudon, B. Knebelmann, 2014, American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons.

Thrombotic microangiopathy secondary to VEGF pathway inhibition by sunitinib.

C. Robert, B. Knebelmann, P. Bruneval, 2008, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

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.

Evidence of digenic inheritance in Alport syndrome

K. Dahan, C. Antignac, B. Knebelmann, 2015, Journal of Medical Genetics.

Clinical and Genetic Spectrum of Bartter Syndrome Type 3.

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

Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.

C. Antignac, C. Antignac, M. Gubler, 1996, American journal of human genetics.

[Randall-type monoclonal immunoglobulin deposition disease: From diagnosis to treatment].

B. Knebelmann, B. Arnulf, A. Jaccard, 2016, Nephrologie & therapeutique.

Bortezomib produces high hematological response rates with prolonged renal survival in monoclonal immunoglobulin deposition disease.

S. Chevret, B. Knebelmann, B. Arnulf, 2015, Kidney international.

Light and heavy chain deposition disease associated with CH1 deletion

B. Knebelmann, L. Noel, M. Alyanakian, 2015, Clinical kidney journal.

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

B. Knebelmann, J. Bacchetta, J. Groothoff, 2023, Nature Reviews Nephrology.

Anti-Müllerian hormone Bruxelles: a nonsense mutation associated with the persistent Müllerian duct syndrome.

B. Knebelmann, A. Kahn, J. Picard, 1991, Proceedings of the National Academy of Sciences of the United States of America.

Recommendations for the use of tolvaptan in autosomal dominant polycystic kidney disease: a position statement on behalf of the ERA-EDTA Working Groups on Inherited Kidney Disorders and European Renal Best Practice

Wim Van Biesen, Raymond Vanholder, Mustafa Arici, 2016, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Clinicopathologic predictors of renal outcomes in light chain cast nephropathy: A multicenter retrospective study.

A. Pani, B. Knebelmann, S. Nasr, 2020, Blood.

Current anti-myeloma therapies in renal manifestations of monoclonal light chain-associated Fanconi syndrome: a retrospective series of 49 patients

B. Knebelmann, B. Arnulf, A. Karras, 2017, Leukemia.

Primary bilateral diffuse renal lymphoma

B. Knebelmann, R. Delarue, L. Noël, 2006, American journal of hematology.

Nephrotic Syndrome Associated with Inflammatory Bowel Disease Treated by Mesalazine

B. Knebelmann, H. Skhiri, J. Grunfeld, 1998, Nephron.

An observational study of bevacizumab-induced hypertension as a clinical biomarker of antitumor activity.

Bertrand Knebelmann, Jean-Marc Treluyer, O. Mir, 2011, The oncologist.

Laminin 5 Regulates Polycystic Kidney Cell Proliferation and Cyst Formation*

B. Knebelmann, D. Joly, N. Patey, 2006, Journal of Biological Chemistry.

β4 Integrin and Laminin 5 Are Aberrantly Expressed in Polycystic Kidney Disease : Role in Increased Cell Adhesion and Migration

A. Ruello, B. Knebelmann, D. Joly, 2003 .

Toxicity of sorafenib: clinical and molecular aspects

F. Goldwasser, B. Knebelmann, R. Coriat, 2010, Expert opinion on drug safety.

The 2019 and 2021 International Workshops on Alport Syndrome

Jie Ding, D. Gale, H. Kai, 2022, European Journal of Human Genetics.

Karyomegalic Interstitial Nephritis

C. Antignac, B. Knebelmann, M. Zaidan, 2016, Medicine.

Effect of High-Cutoff Hemodialysis vs Conventional Hemodialysis on Hemodialysis Independence Among Patients With Myeloma Cast Nephropathy: A Randomized Clinical Trial

B. Pégourié, S. Chevret, B. Knebelmann, 2017, JAMA.

X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study.

H. Smeets, J. Jais, M. Sanak, 2003, Journal of the American Society of Nephrology : JASN.

X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.

H. Smeets, J. Jais, M. Sanak, 2000, Journal of the American Society of Nephrology : JASN.

Anti-PLA2R1 Antibodies Containing Sera Induce In Vitro Cytotoxicity Mediated by Complement Activation

B. Knebelmann, G. Lambeau, N. Jourde-Chiche, 2019, Journal of immunology research.

Patient-reported outcome measures for pain in autosomal dominant polycystic kidney disease: A systematic review

J. Craig, A. Tong, R. Gansevoort, 2021, PloS one.

Cyst infections in patients with autosomal dominant polycystic kidney disease.

B. Knebelmann, J. Grünfeld, J. Zahar, 2009, Clinical journal of the American Society of Nephrology : CJASN.

Efficacy of Prolonged Antibiotic Therapy for Renal Cyst Infections in Polycystic Kidney Disease.

B. Knebelmann, F. Bienaimé, D. Joly, 2022, Mayo Clinic proceedings.

Genetic, clinical, and morphologic heterogeneity in Alport's syndrome.

C. Antignac, M. Gubler, B. Knebelmann, 1993, Advances in nephrology from the Necker Hospital.

Tubulointerstitial nephritis and Fanconi syndrome in primary biliary cirrhosis.

P. Rustin, B. Knebelmann, J. Grünfeld, 2005, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Antiangiogenic activity of restin, NC10 domain of human collagen XV: comparison to endostatin.

V. Sukhatme, M. Waterman, B. Knebelmann, 1999, Biochemical and biophysical research communications.

Inaxaplin for Proteinuric Kidney Disease in Persons with Two APOL1 Variants.

D. Altshuler, M. Bunnage, D. Gipson, 2023, The New England journal of medicine.

A new workflow for proteomic analysis of urinary exosomes and assessment in cystinuria patients.

B. Knebelmann, B. Escudier, I. Guerrera, 2015, Journal of proteome research.

Unexplicated hyperammonemic encephalopathy: remember the old urinary diversions!

B. Knebelmann, J. Mira, F. Mochel, 2016, Acta Neurologica Belgica.

Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy.

T. Friede, J. Ehrich, H. Anders, 2012, Kidney international.

Correction to: Efficacy and safety of an innovative prolonged-release combination drug in patients with distal renal tubular acidosis: an open-label comparative trial versus standard of care treatments

B. Knebelmann, G. Roussey-Kesler, V. Baudouin, 2020, Pediatric Nephrology.

A wave of deep intronic mutations in X-linked Alport Syndrome.

O. Gribouval, C. Antignac, C. Bole-Feysot, 2023, Kidney international.

Kidney Transplant Outcomes in Patients With Adenine Phosphoribosyltransferase Deficiency

B. Knebelmann, D. Milliner, R. Palsson, 2019, Transplantation.

The role of ceramide trihexoside (globotriaosylceramide) in the diagnosis and follow-up of the efficacy of treatment of Fabry disease: a review of the literature.

B. Knebelmann, R. Jaussaud, S. Bekri, 2006, Cardiovascular & hematological agents in medicinal chemistry.

mTOR inhibitors may benefit kidney transplant recipients with mitochondrial diseases.

M. Kaeberlein, G. Canaud, Y. Suh, 2019, Kidney international.

Reversible paraparesis in multiple myeloma with renal failure.

B. Knebelmann, D. Joly, B. Terrier, 2006, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Thalidomide in patients with multiple myeloma and renal failure

P. Muret, B. Knebelmann, R. Delarue, 2004, British journal of haematology.

Screening for Unruptured Intracranial Aneurysms in Autosomal Dominant Polycystic Kidney Disease: A Survey of 420 Nephrologists

B. Knebelmann, D. Joly, D. Trystram, 2016, PloS one.

Venglustat, a Novel Glucosylceramide Synthase Inhibitor, in Patients at Risk of Rapidly Progressing ADPKD: Primary Results of a Double-Blind, Placebo-Controlled, Phase 2/3 Randomized Clinical Trial.

R. Gansevoort, A. Chapman, M. Mrug, 2022, American journal of kidney diseases : the official journal of the National Kidney Foundation.

VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease

O. Gribouval, C. Antignac, P. Nitschké, 2023, iScience.

Spectrum ofMutations intheCOL4A5Collagen GeneinX-Linked Alport Syndrome

C. Antignac, B. Knebelmann, G. Deschênes, 1996 .

Ciliary function of polycystins: a new model for cystogenesis.

A. Ruello, B. Knebelmann, D. Joly, 2003, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.