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Items: 1 to 50 of 117

1.

Author Correction: Targeted therapy in patients with PIK3CA-related overgrowth syndrome.

Venot Q, Blanc T, Rabia SH, Berteloot L, Ladraa S, Duong JP, Blanc E, Johnson SC, Hoguin C, Boccara O, Sarnacki S, Boddaert N, Pannier S, Martinez F, Magassa S, Yamaguchi J, Knebelmann B, Merville P, Grenier N, Joly D, Cormier-Daire V, Michot C, Bole-Feysot C, Picard A, Soupre V, Lyonnet S, Sadoine J, Slimani L, Chaussain C, Laroche-Raynaud C, Guibaud L, Broissand C, Amiel J, Legendre C, Terzi F, Canaud G.

Nature. 2019 Apr;568(7752):E6. doi: 10.1038/s41586-019-1109-3.

PMID:
30944482
2.

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

Prot-Bertoye C, Lebbah S, Daudon M, Tostivint I, Jais JP, Lillo-Le Louët A, Pontoizeau C, Cochat P, Bataille P, Bridoux F, Brignon P, Choquenet C, Combe C, Conort P, Decramer S, Doré B, Dussol B, Essig M, Frimat M, Gaunez N, Joly D, Le Toquin-Bernard S, Méjean A, Meria P, Morin D, N'Guyen HV, Normand M, Pietak M, Ronco P, Saussine C, Tsimaratos M, Friedlander G, Traxer O, Knebelmann B, Courbebaisse M; French Cystinuria Group.

BJU Int. 2019 Feb 24. doi: 10.1111/bju.14721. [Epub ahead of print]

PMID:
30801923
3.

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

Joly F, Cohen C, Javaugue V, Bender S, Belmouaz M, Arnulf B, Knebelmann B, Nouvier M, Audard V, Provot F, Gnemmi V, Nochy D, Goujon JM, Jaccard A, Touchard G, Fermand JP, Sirac C, Bridoux F.

Blood. 2019 Feb 7;133(6):576-587. doi: 10.1182/blood-2018-09-872028. Epub 2018 Dec 21.

PMID:
30578255
4.

mTOR inhibitors may benefit kidney transplant recipients with mitochondrial diseases.

Johnson SC, Martinez F, Bitto A, Gonzalez B, Tazaerslan C, Cohen C, Delaval L, Timsit J, Knebelmann B, Terzi F, Mahal T, Zhu Y, Morgan PG, Sedensky MM, Kaeberlein M, Legendre C, Suh Y, Canaud G.

Kidney Int. 2019 Feb;95(2):455-466. doi: 10.1016/j.kint.2018.08.038. Epub 2018 Nov 22.

PMID:
30471880
5.

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

Gribouval O, Boyer O, Knebelmann B, Karras A, Dantal J, Fourrage C, Alibeu O, Hogan J, Dossier C, Tête MJ, Antignac C, Servais A.

Nephrol Dial Transplant. 2018 Jul 9. doi: 10.1093/ndt/gfy176. [Epub ahead of print]

PMID:
29992269
6.

Targeted therapy in patients with PIK3CA-related overgrowth syndrome.

Venot Q, Blanc T, Rabia SH, Berteloot L, Ladraa S, Duong JP, Blanc E, Johnson SC, Hoguin C, Boccara O, Sarnacki S, Boddaert N, Pannier S, Martinez F, Magassa S, Yamaguchi J, Knebelmann B, Merville P, Grenier N, Joly D, Cormier-Daire V, Michot C, Bole-Feysot C, Picard A, Soupre V, Lyonnet S, Sadoine J, Slimani L, Chaussain C, Laroche-Raynaud C, Guibaud L, Broissand C, Amiel J, Legendre C, Terzi F, Canaud G.

Nature. 2018 Jun;558(7711):540-546. doi: 10.1038/s41586-018-0217-9. Epub 2018 Jun 13. Erratum in: Nature. 2019 Apr;568(7752):E6.

PMID:
29899452
7.

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

Bienaimé F, Ambolet A, Aussilhou B, Brazier F, Fouchard M, Viau A, Barre P, Tissier AM, Correas JM, Paradis V, Terzi F, Friedlander G, Knebelmann B, Joly D, Prié D.

J Clin Endocrinol Metab. 2018 Jun 1;103(6):2319-2328. doi: 10.1210/jc.2018-00123.

PMID:
29618028
8.

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

Bridoux F, Carron PL, Pegourie B, Alamartine E, Augeul-Meunier K, Karras A, Joly B, Peraldi MN, Arnulf B, Vigneau C, Lamy T, Wynckel A, Kolb B, Royer B, Rabot N, Benboubker L, Combe C, Jaccard A, Moulin B, Knebelmann B, Chevret S, Fermand JP; MYRE Study Group.

JAMA. 2017 Dec 5;318(21):2099-2110. doi: 10.1001/jama.2017.17924.

9.

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

Flahault A, Trystram D, Nataf F, Fouchard M, Knebelmann B, Grünfeld JP, Joly D.

Kidney Int. 2018 Mar;93(3):716-726. doi: 10.1016/j.kint.2017.08.016. Epub 2017 Oct 20.

PMID:
29061331
10.

Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome.

Hadj-Rabia S, Brideau G, Al-Sarraj Y, Maroun RC, Figueres ML, Leclerc-Mercier S, Olinger E, Baron S, Chaussain C, Nochy D, Taha RZ, Knebelmann B, Joshi V, Curmi PA, Kambouris M, Vargas-Poussou R, Bodemer C, Devuyst O, Houillier P, El-Shanti H.

Genet Med. 2018 Feb;20(2):190-201. doi: 10.1038/gim.2017.71. Epub 2017 Aug 3.

PMID:
28771254
11.

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

Gaildrat P, Lebbah S, Tebani A, Sudrié-Arnaud B, Tostivint I, Bollee G, Tubeuf H, Charles T, Bertholet-Thomas A, Goldenberg A, Barbey F, Martins A, Saugier-Veber P, Frébourg T, Knebelmann B, Bekri S.

Mol Genet Genomic Med. 2017 May 16;5(4):373-389. doi: 10.1002/mgg3.294. eCollection 2017 Jul.

12.

[Screening and management of intracranial aneurisms in patients with autosomal dominant polycystic kidney disease].

Flahault A, Knebelmann B, Nataf F, Trystram D, Grünfeld JP, Joly D.

Nephrol Ther. 2017 Apr;13 Suppl 1:S147-S153. doi: 10.1016/j.nephro.2017.01.018. Review. French.

PMID:
28577737
13.

Clinical and Genetic Spectrum of Bartter Syndrome Type 3.

Seys E, Andrini O, Keck M, Mansour-Hendili L, Courand PY, Simian C, Deschenes G, Kwon T, Bertholet-Thomas A, Bobrie G, Borde JS, Bourdat-Michel G, Decramer S, Cailliez M, Krug P, Cozette P, Delbet JD, Dubourg L, Chaveau D, Fila M, Jourde-Chiche N, Knebelmann B, Lavocat MP, Lemoine S, Djeddi D, Llanas B, Louillet F, Merieau E, Mileva M, Mota-Vieira L, Mousson C, Nobili F, Novo R, Roussey-Kesler G, Vrillon I, Walsh SB, Teulon J, Blanchard A, Vargas-Poussou R.

J Am Soc Nephrol. 2017 Aug;28(8):2540-2552. doi: 10.1681/ASN.2016101057. Epub 2017 Apr 5.

14.

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

Vignon M, Cohen C, Faguer S, Noel LH, Guilbeau C, Rabant M, Higgins S, Hummel A, Hertig A, Francois H, Lequintrec M, Vilaine E, Knebelmann B, Pourrat J, Chauveau D, Goujon JM, Javaugue V, Touchard G, El Karoui K, Bridoux F.

Kidney Int. 2017 Mar;91(3):720-728. doi: 10.1016/j.kint.2016.10.026. Epub 2017 Jan 6.

PMID:
28069266
15.

French law: what about a reasoned reimbursement of serum vitamin D assays?

Souberbielle JC, Benhamou CL, Cortet B, Rousière M, Roux C, Abitbol V, Annweiler C, Audran M, Bacchetta J, Bataille P, Beauchet O, Bardet R, Benachi A, Berenbaum F, Blain H, Borson-Chazot F, Breuil V, Briot K, Brunet P, Carel JC, Caron P, Chabre O, Chanson P, Chapurlat R, Cochat P, Coutant R, Christin-Maitre S, Cohen-Solal M, Combe C, Cormier C, Courbebaisse M, Debrus G, Delemer B, Deschenes G, Duquenne M, Duval G, Fardellone P, Fouque D, Friedlander G, Gauvain JB, Groussin L, Guggenbuhl P, Houillier P, Hannedouche T, Jacot W, Javier RM, Jean G, Jeandel C, Joly D, Kamenicky P, Knebelmann B, Lafage-Proust MH, LeBouc Y, Legrand E, Levy-Weil F, Linglart A, Machet L, Maheu E, Mallet E, Marcelli C, Marès P, Mariat C, Maruani G, Maugars Y, Montagnon F, Moulin B, Orcel P, Partouche H, Personne V, Pierrot-Deseilligny C, Polak M, Pouteil-Noble C, Prié D, Raynaud-Simon A, Rolland Y, Sadoul JL, Salle B, Sault C, Schott AM, Sermet-Gaudelus I, Soubrier M, Tack I, Thervet E, Tostivint I, Touraine P, Tremollières F, Urena-Torres P, Viard JP, Wemeau JL, Weryha G, Winer N, Young J, Thomas T.

Geriatr Psychol Neuropsychiatr Vieil. 2016 Dec 1;14(4):377-382. Review.

PMID:
27818369
16.

Case report and literature review: Glomerular and neurologic thrombotic microangiopathy as a primary manifestation of multicentric castleman disease.

Flahault A, Vignon M, Rabant M, Hummel A, Noël LH, Canioni D, Knebelmann B, Suarez F, El Karoui K.

Medicine (Baltimore). 2016 Oct;95(41):e5047. Review.

17.

Individualiser les néphropathies tubulo-Interstitielles chroniques.

Zaidan M, Rabant M, Knebelmann B.

Rev Prat. 2016 Jun;66(6 Suppl):e246. French. No abstract available.

PMID:
27538333
18.

NÉPHROPATHIE INTERSTITIELLE.

Zaidan M, Rabant M, Knebelmann B.

Rev Prat. 2016 Jun;66(6 Suppl):e239-45. French. No abstract available.

PMID:
27538332
19.

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

Vignon M, Javaugue V, Alexander MP, El-Karoui K, Karras A, Roos-Weil D, Royer B, Asli B, Knebelmann B, Touchard G, Jaccard A, Arnulf B, Bridoux F, Leung N, Fermand JP.

Leukemia. 2017 Jan;31(1):123-129. doi: 10.1038/leu.2016.195. Epub 2016 Jul 20.

PMID:
27435002
20.

Observations of a large Dent disease cohort.

Blanchard A, Curis E, Guyon-Roger T, Kahila D, Treard C, Baudouin V, Bérard E, Champion G, Cochat P, Dubourg J, de la Faille R, Devuyst O, Deschenes G, Fischbach M, Harambat J, Houillier P, Karras A, Knebelmann B, Lavocat MP, Loirat C, Merieau E, Niaudet P, Nobili F, Novo R, Salomon R, Ulinski T, Jeunemaître X, Vargas-Poussou R.

Kidney Int. 2016 Aug;90(2):430-439. doi: 10.1016/j.kint.2016.04.022. Epub 2016 Jun 22.

PMID:
27342959
21.

Karyomegalic Interstitial Nephritis: A Case Report and Review of the Literature.

Isnard P, Rabant M, Labaye J, Antignac C, Knebelmann B, Zaidan M.

Medicine (Baltimore). 2016 May;95(20):e3349. doi: 10.1097/MD.0000000000003349. Review.

22.

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

Cohen C, Javaugue V, Joly F, Arnulf B, Fermand JP, Jaccard A, Sirac C, Knebelmann B, Bridoux F, Touchard G.

Nephrol Ther. 2016 Jun;12(3):131-9. doi: 10.1016/j.nephro.2015.12.005. Epub 2016 Apr 21. Review. French.

PMID:
27117766
23.

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

Flahault A, Trystram D, Fouchard M, Knebelmann B, Nataf F, Joly D.

PLoS One. 2016 Apr 7;11(4):e0153176. doi: 10.1371/journal.pone.0153176. eCollection 2016.

24.

[Renal involvement during type 1 cryoglobulinemia].

Zaidan M, Plasse F, Rabant M, Javaugue V, Knebelmann B, Alyanakian MA, Joly D, Nochy D, Bridoux F.

Nephrol Ther. 2016 Apr;12 Suppl 1:S71-81. doi: 10.1016/j.nephro.2016.01.010. Epub 2016 Mar 10. French.

PMID:
26972092
25.

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.

Gansevoort RT, Arici M, Benzing T, Birn H, Capasso G, Covic A, Devuyst O, Drechsler C, Eckardt KU, Emma F, Knebelmann B, Le Meur Y, Massy ZA, Ong AC, Ortiz A, Schaefer F, Torra R, Vanholder R, Więcek A, Zoccali C, Van Biesen W.

Nephrol Dial Transplant. 2016 Mar;31(3):337-48. doi: 10.1093/ndt/gfv456. Epub 2016 Jan 29. Review.

26.

Unexplicated hyperammonemic encephalopathy: remember the old urinary diversions!

Champigneulle B, Jamme M, Knebelmann B, Mochel F, Mira JP.

Acta Neurol Belg. 2016 Dec;116(4):677-678. Epub 2016 Feb 1. No abstract available.

PMID:
26830648
27.

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

El Karoui K, Viau A, Dellis O, Bagattin A, Nguyen C, Baron W, Burtin M, Broueilh M, Heidet L, Mollet G, Druilhe A, Antignac C, Knebelmann B, Friedlander G, Bienaimé F, Gallazzini M, Terzi F.

Nat Commun. 2016 Jan 20;7:10330. doi: 10.1038/ncomms10330.

28.

Membranous Nephropathy Associated With Immunological Disorder-Related Liver Disease: A Retrospective Study of 10 Cases.

Dauvergne M, Moktefi A, Rabant M, Vigneau C, Kofman T, Burtey S, Corpechot C, Stehlé T, Desvaux D, Rioux-Leclercq N, Rouvier P, Knebelmann B, Boffa JJ, Frouget T, Daugas E, Jablonski M, Dahan K, Brocheriou I, Remy P, Grimbert P, Lang P, Chazouilleres O, Sahali D, Audard V.

Medicine (Baltimore). 2015 Jul;94(30):e1243. doi: 10.1097/MD.0000000000001243.

29.

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

Cohen C, Royer B, Javaugue V, Szalat R, El Karoui K, Caulier A, Knebelmann B, Jaccard A, Chevret S, Touchard G, Fermand JP, Arnulf B, Bridoux F.

Kidney Int. 2015 Nov;88(5):1135-43. doi: 10.1038/ki.2015.201. Epub 2015 Jul 15.

PMID:
26176826
30.

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

Ong AC, Devuyst O, Knebelmann B, Walz G; ERA-EDTA Working Group for Inherited Kidney Diseases.

Lancet. 2015 May 16;385(9981):1993-2002. doi: 10.1016/S0140-6736(15)60907-2. Review. Erratum in: Lancet. 2015 Jun 27;385(9987):2576.

PMID:
26090645
31.

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

Mansour-Hendili L, Blanchard A, Le Pottier N, Roncelin I, Lourdel S, Treard C, González W, Vergara-Jaque A, Morin G, Colin E, Holder-Espinasse M, Bacchetta J, Baudouin V, Benoit S, Bérard E, Bourdat-Michel G, Bouchireb K, Burtey S, Cailliez M, Cardon G, Cartery C, Champion G, Chauveau D, Cochat P, Dahan K, De la Faille R, Debray FG, Dehoux L, Deschenes G, Desport E, Devuyst O, Dieguez S, Emma F, Fischbach M, Fouque D, Fourcade J, François H, Gilbert-Dussardier B, Hannedouche T, Houillier P, Izzedine H, Janner M, Karras A, Knebelmann B, Lavocat MP, Lemoine S, Leroy V, Loirat C, Macher MA, Martin-Coignard D, Morin D, Niaudet P, Nivet H, Nobili F, Novo R, Faivre L, Rigothier C, Roussey-Kesler G, Salomon R, Schleich A, Sellier-Leclerc AL, Soulami K, Tiple A, Ulinski T, Vanhille P, Van Regemorter N, Jeunemaître X, Vargas-Poussou R.

Hum Mutat. 2015 Aug;36(8):743-52. doi: 10.1002/humu.22804. Epub 2015 Jun 11. Review.

PMID:
25907713
32.

Light and heavy chain deposition disease associated with CH1 deletion.

Cohen C, El-Karoui K, Alyanakian MA, Noel LH, Bridoux F, Knebelmann B.

Clin Kidney J. 2015 Apr;8(2):237-9. doi: 10.1093/ckj/sfv002. Epub 2015 Jan 28.

33.

CKD and Its Risk Factors among Patients with Cystinuria.

Prot-Bertoye C, Lebbah S, Daudon M, Tostivint I, Bataille P, Bridoux F, Brignon P, Choquenet C, Cochat P, Combe C, Conort P, Decramer S, Doré B, Dussol B, Essig M, Gaunez N, Joly D, Le Toquin-Bernard S, Méjean A, Meria P, Morin D, N'Guyen HV, Noël C, Normand M, Pietak M, Ronco P, Saussine C, Tsimaratos M, Friedlander G, Traxer O, Knebelmann B, Courbebaisse M; French Cystinuria Group.

Clin J Am Soc Nephrol. 2015 May 7;10(5):842-51. doi: 10.2215/CJN.06680714. Epub 2015 Feb 25.

34.

Evidence of digenic inheritance in Alport syndrome.

Mencarelli MA, Heidet L, Storey H, van Geel M, Knebelmann B, Fallerini C, Miglietti N, Antonucci MF, Cetta F, Sayer JA, van den Wijngaard A, Yau S, Mari F, Bruttini M, Ariani F, Dahan K, Smeets B, Antignac C, Flinter F, Renieri A.

J Med Genet. 2015 Mar;52(3):163-74. doi: 10.1136/jmedgenet-2014-102822. Epub 2015 Jan 9.

PMID:
25575550
35.

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

Bourderioux M, Nguyen-Khoa T, Chhuon C, Jeanson L, Tondelier D, Walczak M, Ollero M, Bekri S, Knebelmann B, Escudier E, Escudier B, Edelman A, Guerrera IC.

J Proteome Res. 2015 Jan 2;14(1):567-77. doi: 10.1021/pr501003q. Epub 2014 Nov 12.

PMID:
25365230
36.

Recurrent 2,8-dihydroxyadenine nephropathy: a rare but preventable cause of renal allograft failure.

Zaidan M, Palsson R, Merieau E, Cornec-Le Gall E, Garstka A, Maggiore U, Deteix P, Battista M, Gagné ER, Ceballos-Picot I, Duong Van Huyen JP, Legendre C, Daudon M, Edvardsson VO, Knebelmann B.

Am J Transplant. 2014 Nov;14(11):2623-32. doi: 10.1111/ajt.12926. Epub 2014 Oct 10.

37.

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

Souberbielle JC, Benhamou CL, Cortet B, Rousière M, Roux C, Abitbol V, Annweiler C, Audran M, Bacchetta J, Bataille P, Beauchet O, Bardet R, Benachi A, Berenbaum F, Blain H, Borson-Chazot F, Breuil V, Briot K, Brunet P, Carel JC, Caron P, Chabre O, Chanson P, Chapurlat R, Cochat P, Coutant R, Christin-Maitre S, Cohen-Solal M, Combe C, Cormier C, Courbebaisse M, Debrus G, Delemer B, Deschenes G, Duquenne M, Fardellone P, Fouque D, Friedlander G, Gauvain JB, Groussin L, Guggenbuhl P, Houillier P, Hannedouche T, Jacot W, Javier RM, Jean G, Jeandel C, Joly D, Kamenicky P, Knebelmann B, Lafage-Proust MH, LeBouc Y, Legrand E, Levy-Weil F, Linglart A, Machet L, Maheu E, Mallet E, Marcelli C, Marès P, Mariat C, Maruani G, Maugars Y, Montagnon F, Moulin B, Orcel P, Partouche H, Personne V, Pierrot-Deseilligny C, Polak M, Pouteil-Noble C, Prié D, Raynaud-Simon A, Rolland Y, Sadoul JL, Salle B, Sault C, Schott AM, Sermet-Gaudelus I, Soubrier M, Tack I, Thervet É, Tostivint I, Touraine P, Tremollières F, Urena-Torres P, Viard JP, Wemeau JL, Weryha G, Winer N, Young J, Thomas T.

Ann Biol Clin (Paris). 2014 Jul-Aug;72(4):385-9. doi: 10.1684/abc.2014.0972. French. No abstract available.

38.

2,8-Dihydroxyadenine urolithiasis: a not so rare inborn error of purine metabolism.

Ceballos-Picot I, Daudon M, Harambat J, Bensman A, Knebelmann B, Bollée G.

Nucleosides Nucleotides Nucleic Acids. 2014;33(4-6):241-52. doi: 10.1080/15257770.2013.853780. Review.

PMID:
24940675
39.

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

Morinière V, Dahan K, Hilbert P, Lison M, Lebbah S, Topa A, Bole-Feysot C, Pruvost S, Nitschke P, Plaisier E, Knebelmann B, Macher MA, Noel LH, Gubler MC, Antignac C, Heidet L.

J Am Soc Nephrol. 2014 Dec;25(12):2740-51. doi: 10.1681/ASN.2013080912. Epub 2014 May 22.

40.

Quiz page: a familial glomerulopathy.

Cez A, Galmiche L, Hummel A, Knebelmann B, El Karoui K.

Am J Kidney Dis. 2014 Apr;63(4):A17-20. doi: 10.1053/j.ajkd.2013.09.023. No abstract available.

PMID:
24670484
41.

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

Halbritter J, Bizet AA, Schmidts M, Porath JD, Braun DA, Gee HY, McInerney-Leo AM, Krug P, Filhol E, Davis EE, Airik R, Czarnecki PG, Lehman AM, Trnka P, Nitschké P, Bole-Feysot C, Schueler M, Knebelmann B, Burtey S, Szabó AJ, Tory K, Leo PJ, Gardiner B, McKenzie FA, Zankl A, Brown MA, Hartley JL, Maher ER, Li C, Leroux MR, Scambler PJ, Zhan SH, Jones SJ, Kayserili H, Tuysuz B, Moorani KN, Constantinescu A, Krantz ID, Kaplan BS, Shah JV; UK10K Consortium, Hurd TW, Doherty D, Katsanis N, Duncan EL, Otto EA, Beales PL, Mitchison HM, Saunier S, Hildebrandt F.

Am J Hum Genet. 2013 Nov 7;93(5):915-25. doi: 10.1016/j.ajhg.2013.09.012. Epub 2013 Oct 17.

42.

Adenine phosphoribosyltransferase deficiency.

Bollée G, Harambat J, Bensman A, Knebelmann B, Daudon M, Ceballos-Picot I.

Clin J Am Soc Nephrol. 2012 Sep;7(9):1521-7. Epub 2012 Jun 14. Review.

43.

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

Kashtan CE, Ding J, Gregory M, Gross O, Heidet L, Knebelmann B, Rheault M, Licht C; Alport Syndrome Research Collaborative.

Pediatr Nephrol. 2013 Jan;28(1):5-11. doi: 10.1007/s00467-012-2138-4. Epub 2012 Mar 30.

44.

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

Gross O, Licht C, Anders HJ, Hoppe B, Beck B, Tönshoff B, Höcker B, Wygoda S, Ehrich JH, Pape L, Konrad M, Rascher W, Dötsch J, Müller-Wiefel DE, Hoyer P; Study Group Members of the Gesellschaft für Pädiatrische Nephrologie, Knebelmann B, Pirson Y, Grunfeld JP, Niaudet P, Cochat P, Heidet L, Lebbah S, Torra R, Friede T, Lange K, Müller GA, Weber M.

Kidney Int. 2012 Mar;81(5):494-501. doi: 10.1038/ki.2011.407. Epub 2011 Dec 14.

45.

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

Bollée G, Dahan K, Flamant M, Morinière V, Pawtowski A, Heidet L, Lacombe D, Devuyst O, Pirson Y, Antignac C, Knebelmann B.

Clin J Am Soc Nephrol. 2011 Oct;6(10):2429-38. doi: 10.2215/CJN.01220211. Epub 2011 Aug 25.

46.

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

Mir O, Coriat R, Cabanes L, Ropert S, Billemont B, Alexandre J, Durand JP, Treluyer JM, Knebelmann B, Goldwasser F.

Oncologist. 2011;16(9):1325-32. doi: 10.1634/theoncologist.2010-0002. Epub 2011 Aug 1.

47.

[Calcium oxalate urolithiasis].

Daudon M, Knebelmann B.

Rev Prat. 2011 Mar;61(3):385-8. French.

PMID:
21563420
48.

[Epidemiology of urolithiasis].

Daudon M, Knebelmann B.

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