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Items: 1 to 50 of 123

1.

High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.

González-Acosta M, Marín F, Puliafito B, Bonifaci N, Fernández A, Navarro M, Salvador H, Balaguer F, Iglesias S, Velasco A, Grau Garces E, Moreno V, Gonzalez-Granado LI, Guerra-García P, Ayala R, Florkin B, Kratz C, Ripperger T, Rosenbaum T, Januszkiewicz-Lewandowska D, Azizi AA, Ragab I, Nathrath M, Pander HJ, Lobitz S, Suerink M, Dahan K, Imschweiler T, Demirsoy U, Brunet J, Lázaro C, Rueda D, Wimmer K, Capellá G, Pineda M.

J Med Genet. 2019 Sep 7. pii: jmedgenet-2019-106272. doi: 10.1136/jmedgenet-2019-106272. [Epub ahead of print]

2.

Membranous glomerulonephritis: a step forward in B-cell targeting therapy?

Dahan K, Boffa JJ.

Nephrol Dial Transplant. 2019 Aug 4. pii: gfz139. doi: 10.1093/ndt/gfz139. [Epub ahead of print] No abstract available.

PMID:
31377779
3.

Survival and specific outcome of sickle cell disease patients after renal transplantation.

Gérardin C, Moktefi A, Couchoud C, Duquesne A, Ouali N, Gataut P, Karras A, Anglicheau D, Lefaucheur C, Figueres L, Albano L, Lionet A, Novion M, Ziliotis MJ, Louis M, Del Bello A, Matignon M, Dahan K, Habibi A, Galacteros F, Bartolucci P, Grimbert P, Audard V.

Br J Haematol. 2019 Jul 26. doi: 10.1111/bjh.16113. [Epub ahead of print]

PMID:
31348518
4.

High-Dose Rituximab and Early Remission in PLA2R1-Related Membranous Nephropathy.

Seitz-Polski B, Dahan K, Debiec H, Rousseau A, Andreani M, Zaghrini C, Ticchioni M, Rosenthal A, Benzaken S, Bernard G, Lambeau G, Ronco P, Esnault VLM.

Clin J Am Soc Nephrol. 2019 Aug 7;14(8):1173-1182. doi: 10.2215/CJN.11791018. Epub 2019 Jul 24.

PMID:
31340979
5.

Efficacy of Rituximab in a Patient With Partial Clinical Remission and Persistent Circulating PLA2R-Ab.

Georges E, Johanet C, Plaisier E, Debiec H, Ronco P, Dahan K.

Kidney Int Rep. 2019 Mar 13;4(7):1027-1030. doi: 10.1016/j.ekir.2019.03.002. eCollection 2019 Jul. No abstract available.

6.

Functional classification of ATM variants in ataxia-telangiectasia patients.

Fiévet A, Bellanger D, Rieunier G, Dubois d'Enghien C, Sophie J, Calvas P, Carriere JP, Anheim M, Castrioto A, Flabeau O, Degos B, Ewenczyk C, Mahlaoui N, Touzot F, Suarez F, Hully M, Roubertie A, Aladjidi N, Tison F, Antoine-Poirel H, Dahan K, Doummar D, Nougues MC, Ioos C, Rougeot C, Masurel A, Bourjault C, Ginglinger E, Prieur F, Siri A, Bordigoni P, Nguyen K, Philippe N, Bellesme C, Demeocq F, Altuzarra C, Mathieu-Dramard M, Couderc F, Dörk T, Auger N, Parfait B, Abidallah K, Moncoutier V, Collet A, Stoppa-Lyonnet D, Stern MH.

Hum Mutat. 2019 May 3. doi: 10.1002/humu.23778. [Epub ahead of print]

PMID:
31050087
7.

A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.

Gallon R, Mühlegger B, Wenzel SS, Sheth H, Hayes C, Aretz S, Dahan K, Foulkes W, Kratz CP, Ripperger T, Azizi AA, Baris Feldman H, Chong AL, Demirsoy U, Florkin B, Imschweiler T, Januszkiewicz-Lewandowska D, Lobitz S, Nathrath M, Pander HJ, Perez-Alonso V, Perne C, Ragab I, Rosenbaum T, Rueda D, Seidel MG, Suerink M, Taeubner J, Zimmermann SY, Zschocke J, Borthwick GM, Burn J, Jackson MS, Santibanez-Koref M, Wimmer K.

Hum Mutat. 2019 May;40(5):649-655. doi: 10.1002/humu.23721. Epub 2019 Mar 6.

8.

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Calvo AS, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE.

Genet Med. 2019 Sep;21(9):2160-2161. doi: 10.1038/s41436-018-0368-y.

PMID:
30696996
9.

Retreatment with rituximab for membranous nephropathy with persistently elevated titers of anti-phospholipase A2 receptor antibody.

Dahan K, Johannet C, Esteve E, Plaisier E, Debiec H, Ronco P.

Kidney Int. 2019 Jan;95(1):233-234. doi: 10.1016/j.kint.2018.08.045. No abstract available.

PMID:
30606419
10.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-Wödl S, Berry K, Bijlsma EK, Bok LA, Brouwer AFJ, van der Burgt I, Campeau PM, Canham N, Chrzanowska K, Chu YWY, Chung BHY, Dahan K, De Rademaeker M, Destree A, Dudding-Byth T, Earl R, Elcioglu N, Elias ER, Fagerberg C, Gardham A, Gener B, Gerkes EH, Grasshoff U, van Haeringen A, Heitink KR, Herkert JC, den Hollander NS, Horn D, Hunt D, Kant SG, Kato M, Kayserili H, Kersseboom R, Kilic E, Krajewska-Walasek M, Lammers K, Laulund LW, Lederer D, Lees M, López-González V, Maas S, Mancini GMS, Marcelis C, Martinez F, Maystadt I, McGuire M, McKee S, Mehta S, Metcalfe K, Milunsky J, Mizuno S, Moeschler JB, Netzer C, Ockeloen CW, Oehl-Jaschkowitz B, Okamoto N, Olminkhof SNM, Orellana C, Pasquier L, Pottinger C, Riehmer V, Robertson SP, Roifman M, Rooryck C, Ropers FG, Rosello M, Ruivenkamp CAL, Sagiroglu MS, Sallevelt SCEH, Sanchis Calvo A, Simsek-Kiper PO, Soares G, Solaeche L, Sonmez FM, Splitt M, Steenbeek D, Stegmann APA, Stumpel CTRM, Tanabe S, Uctepe E, Utine GE, Veenstra-Knol HE, Venkateswaran S, Vilain C, Vincent-Delorme C, Vulto-van Silfhout AT, Wheeler P, Wilson GN, Wilson LC, Wollnik B, Kosho T, Wieczorek D, Eichler E, Pfundt R, de Vries BBA, Clayton-Smith J, Santen GWE.

Genet Med. 2019 Jun;21(6):1295-1307. doi: 10.1038/s41436-018-0330-z. Epub 2018 Nov 8. Erratum in: Genet Med. 2019 Jan 29;:.

PMID:
30349098
11.

The authors reply.

van de Logt AE, Dahan K, Ronco P, Wetzels J.

Kidney Int. 2018 Oct;94(4):830. doi: 10.1016/j.kint.2018.06.018. No abstract available.

PMID:
30243321
12.

Genotype and Outcome After Kidney Transplantation in Alport Syndrome.

Gillion V, Dahan K, Cosyns JP, Hilbert P, Jadoul M, Goffin E, Godefroid N, De Meyer M, Mourad M, Pirson Y, Kanaan N.

Kidney Int Rep. 2018 Feb 2;3(3):652-660. doi: 10.1016/j.ekir.2018.01.008. eCollection 2018 May.

13.

De Novo Atypical Haemolytic Uremic Syndrome after Kidney Transplantation.

Devresse A, de Meyer M, Aydin S, Dahan K, Kanaan N.

Case Rep Nephrol. 2018 Mar 14;2018:1727986. doi: 10.1155/2018/1727986. eCollection 2018.

14.

The Role of PLA2R Antibody in Treatment of Membranous Nephropathy.

Dahan K, Gillion V, Johanet C, Debiec H, Ronco P.

Kidney Int Rep. 2017 Nov 3;3(2):498-501. doi: 10.1016/j.ekir.2017.10.013. eCollection 2018 Mar. No abstract available.

15.

Efficacy and Safety of Rituximab in Hepatitis B Virus-Associated PLA2R-Positive Membranous Nephropathy.

Berchtold L, Zanetta G, Dahan K, Mihout F, Peltier J, Guerrot D, Brochériou I, Ronco P, Debiec H.

Kidney Int Rep. 2017 Sep 21;3(2):486-491. doi: 10.1016/j.ekir.2017.09.009. eCollection 2018 Mar. No abstract available.

16.

Urinary transcriptomics reveals patterns associated with subclinical injury of the renal allograft.

Galichon P, Xu-Dubois YC, Buob D, Tinel C, Anglicheau D, Benbouzid S, Dahan K, Ouali N, Hertig A, Brocheriou I, Rondeau E.

Biomark Med. 2018 May;12(5):427-438. doi: 10.2217/bmm-2017-0330. Epub 2018 Apr 26.

PMID:
29697267
17.

Immunological remission in PLA2R-antibody-associated membranous nephropathy: cyclophosphamide versus rituximab.

van de Logt AE, Dahan K, Rousseau A, van der Molen R, Debiec H, Ronco P, Wetzels J.

Kidney Int. 2018 Apr;93(4):1016-1017. doi: 10.1016/j.kint.2017.12.019. No abstract available.

PMID:
29571438
18.

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

Ashton EJ, Legrand A, Benoit V, Roncelin I, Venisse A, Zennaro MC, Jeunemaitre X, Iancu D, Van't Hoff WG, Walsh SB, Godefroid N, Rotthier A, Del Favero J, Devuyst O, Schaefer F, Jenkins LA, Kleta R, Dahan K, Vargas-Poussou R, Bockenhauer D.

Kidney Int. 2018 Apr;93(4):961-967. doi: 10.1016/j.kint.2017.10.016. Epub 2018 Feb 15.

PMID:
29398133
19.

Urinary mRNA analysis of biomarkers to epithelial mesenchymal transition of renal allograft.

Mezni I, Galichon P, Mongi Bacha M, Xu-Dubois YC, Sfar I, Buob D, Benbouzid S, Goucha R, Gorgi Y, Abderrahim E, Ounissi M, Dahan K, Ouali N, Hertig A, Brocheriou I, Raies A, Ben Abdallah T, Rondeau É.

Nephrol Ther. 2018 May;14(3):153-161. doi: 10.1016/j.nephro.2017.09.002. Epub 2018 Jan 8.

PMID:
29325696
20.

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Koczkowska M, Chen Y, Callens T, Gomes A, Sharp A, Johnson S, Hsiao MC, Chen Z, Balasubramanian M, Barnett CP, Becker TA, Ben-Shachar S, Bertola DR, Blakeley JO, Burkitt-Wright EMM, Callaway A, Crenshaw M, Cunha KS, Cunningham M, D'Agostino MD, Dahan K, De Luca A, Destrée A, Dhamija R, Eoli M, Evans DGR, Galvin-Parton P, George-Abraham JK, Gripp KW, Guevara-Campos J, Hanchard NA, Hernández-Chico C, Immken L, Janssens S, Jones KJ, Keena BA, Kochhar A, Liebelt J, Martir-Negron A, Mahoney MJ, Maystadt I, McDougall C, McEntagart M, Mendelsohn N, Miller DT, Mortier G, Morton J, Pappas J, Plotkin SR, Pond D, Rosenbaum K, Rubin K, Russell L, Rutledge LS, Saletti V, Schonberg R, Schreiber A, Seidel M, Siqveland E, Stockton DW, Trevisson E, Ullrich NJ, Upadhyaya M, van Minkelen R, Verhelst H, Wallace MR, Yap YS, Zackai E, Zonana J, Zurcher V, Claes K, Martin Y, Korf BR, Legius E, Messiaen LM.

Am J Hum Genet. 2018 Jan 4;102(1):69-87. doi: 10.1016/j.ajhg.2017.12.001. Epub 2017 Dec 28.

21.

Phospholipase A2 Receptor 1 Epitope Spreading at Baseline Predicts Reduced Likelihood of Remission of Membranous Nephropathy.

Seitz-Polski B, Debiec H, Rousseau A, Dahan K, Zaghrini C, Payré C, Esnault VLM, Lambeau G, Ronco P.

J Am Soc Nephrol. 2018 Feb;29(2):401-408. doi: 10.1681/ASN.2017070734. Epub 2017 Nov 7.

22.

Belgian consensus statement on the diagnosis and management of patients with atypical hemolytic uremic syndrome.

Claes KJ, Massart A, Collard L, Weekers L, Goffin E, Pochet JM, Dahan K, Morelle J, Adams B, Broeders N, Stordeur P, Abramowicz D, Bosmans JL, Van Hoeck K, Janssens P, Pipeleers L, Peeters P, Van Laecke S, Levtchenko E, Sprangers B, van den Heuvel L, Godefroid N, Van de Walle J.

Acta Clin Belg. 2018 Feb;73(1):80-89. doi: 10.1080/17843286.2017.1345185. Epub 2017 Oct 23. No abstract available.

PMID:
29058539
23.

Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome.

Dorval G, Gribouval O, Martinez-Barquero V, Machuca E, Tête MJ, Baudouin V, Benoit S, Chabchoub I, Champion G, Chauveau D, Chehade H, Chouchane C, Cloarec S, Cochat P, Dahan K, Dantal J, Delmas Y, Deschênes G, Dolhem P, Durand D, Ekinci Z, El Karoui K, Fischbach M, Grunfeld JP, Guigonis V, Hachicha M, Hogan J, Hourmant M, Hummel A, Kamar N, Krummel T, Lacombe D, Llanas B, Mesnard L, Mohsin N, Niaudet P, Nivet H, Parvex P, Pietrement C, de Pontual L, Noble CP, Ribes D, Ronco P, Rondeau E, Sallee M, Tsimaratos M, Ulinski T, Salomon R, Antignac C, Boyer O.

Pediatr Nephrol. 2018 Mar;33(3):473-483. doi: 10.1007/s00467-017-3819-9. Epub 2017 Oct 23.

PMID:
29058154
24.

Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia families.

Renault AL, Mebirouk N, Cavaciuti E, Le Gal D, Lecarpentier J, d'Enghien CD, Laugé A, Dondon MG, Labbé M, Lesca G, Leroux D, Gladieff L, Adenis C, Faivre L, Gilbert-Dussardier B, Lortholary A, Fricker JP, Dahan K, Bay JO, Longy M, Buecher B, Janin N, Zattara H, Berthet P, Combès A, Coupier I; CoF-AT study collaborators, Hall J, Stoppa-Lyonnet D, Andrieu N, Lesueur F.

Carcinogenesis. 2017 Oct 1;38(10):994-1003. doi: 10.1093/carcin/bgx074.

25.

Long-term efficacy and safety of rituximab in IgG4-related disease: Data from a French nationwide study of thirty-three patients.

Ebbo M, Grados A, Samson M, Groh M, Loundou A, Rigolet A, Terrier B, Guillaud C, Carra-Dallière C, Renou F, Pozdzik A, Labauge P, Palat S, Berthelot JM, Pennaforte JL, Wynckel A, Lebas C, Le Gouellec N, Quémeneur T, Dahan K, Carbonnel F, Leroux G, Perlat A, Mathian A, Cacoub P, Hachulla E, Costedoat-Chalumeau N, Harlé JR, Schleinitz N.

PLoS One. 2017 Sep 15;12(9):e0183844. doi: 10.1371/journal.pone.0183844. eCollection 2017.

26.

[Membranous nephropathy: New insights in therapeutic approach].

Dahan K.

Nephrol Ther. 2017 Apr;13 Suppl 1:S83-S87. doi: 10.1016/j.nephro.2017.02.002. French.

PMID:
28577748
27.

B- and T-cell subpopulations in patients with severe idiopathic membranous nephropathy may predict an early response to rituximab.

Rosenzwajg M, Languille E, Debiec H, Hygino J, Dahan K, Simon T, Klatzmann D, Ronco P.

Kidney Int. 2017 Jul;92(1):227-237. doi: 10.1016/j.kint.2017.01.012. Epub 2017 Mar 15.

PMID:
28318628
28.

Early-onset of ADCK4 glomerulopathy with renal failure: a case report.

Lolin K, Chiodini BD, Hennaut E, Adams B, Dahan K, Ismaili K.

BMC Med Genet. 2017 Mar 16;18(1):28. doi: 10.1186/s12881-017-0392-9.

29.

Prognostic value of PLA2R autoimmunity detected by measurement of anti-PLA2R antibodies combined with detection of PLA2R antigen in membranous nephropathy: A single-centre study over 14 years.

Pourcine F, Dahan K, Mihout F, Cachanado M, Brocheriou I, Debiec H, Ronco P.

PLoS One. 2017 Mar 3;12(3):e0173201. doi: 10.1371/journal.pone.0173201. eCollection 2017.

30.

Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome.

Belge H, Dahan K, Cambier JF, Benoit V, Morelle J, Bloch J, Vanhille P, Pirson Y, Demoulin N.

Nephrol Dial Transplant. 2017 May 1;32(5):830-837. doi: 10.1093/ndt/gfw271.

PMID:
27387476
31.

Rituximab for Severe Membranous Nephropathy: A 6-Month Trial with Extended Follow-Up.

Dahan K, Debiec H, Plaisier E, Cachanado M, Rousseau A, Wakselman L, Michel PA, Mihout F, Dussol B, Matignon M, Mousson C, Simon T, Ronco P; GEMRITUX Study Group.

J Am Soc Nephrol. 2017 Jan;28(1):348-358. doi: 10.1681/ASN.2016040449. Epub 2016 Jun 27.

32.

[Membranous nephropathy: Diagnosis, new insights in pathophysiology, and therapeutic approach].

Dahan K.

Rev Med Interne. 2016 Oct;37(10):674-679. doi: 10.1016/j.revmed.2016.02.003. Epub 2016 May 25. Review. French.

PMID:
27236434
33.

Urinary mRNA for the Diagnosis of Renal Allograft Rejection: The Issue of Normalization.

Galichon P, Amrouche L, Hertig A, Brocheriou I, Rabant M, Xu-Dubois YC, Ouali N, Dahan K, Morin L, Terzi F, Rondeau E, Anglicheau D.

Am J Transplant. 2016 Oct;16(10):3033-3040. doi: 10.1111/ajt.13891. Epub 2016 Jul 8.

34.

Factors Associated With Pathogenicity of Anti-Glomerular Basal Membrane Antibodies: A Case Report.

Ossman R, Buob D, Hellmark T, Brocheriou I, Peltier J, Tamouza R, Dahan K, Hertig A, Rondeau E, Galichon P.

Medicine (Baltimore). 2016 May;95(19):e3654. doi: 10.1097/MD.0000000000003654.

35.

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.

36.

Nephrotic syndrome after infliximab treatment in a patient with ulcerative colitis.

Dumitrescu G, Dahan K, Treton X, Corcos O, Bouhnik Y, Stefanescu C.

J Gastrointestin Liver Dis. 2015 Jun;24(2):249-51. doi: 10.15403/jgld.2014.1121.242.infx.

37.

Identification of an NPHP1 deletion causing adult form of nephronophthisis.

Haghighi A, Savaj S, Haghighi-Kakhki H, Benoit V, Grisart B, Dahan K.

Ir J Med Sci. 2016 Aug;185(3):589-95. doi: 10.1007/s11845-015-1312-7. Epub 2015 Jun 4.

PMID:
26037636
38.

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.

Taylor JC, Martin HC, Lise S, Broxholme J, Cazier JB, Rimmer A, Kanapin A, Lunter G, Fiddy S, Allan C, Aricescu AR, Attar M, Babbs C, Becq J, Beeson D, Bento C, Bignell P, Blair E, Buckle VJ, Bull K, Cais O, Cario H, Chapel H, Copley RR, Cornall R, Craft J, Dahan K, Davenport EE, Dendrou C, Devuyst O, Fenwick AL, Flint J, Fugger L, Gilbert RD, Goriely A, Green A, Greger IH, Grocock R, Gruszczyk AV, Hastings R, Hatton E, Higgs D, Hill A, Holmes C, Howard M, Hughes L, Humburg P, Johnson D, Karpe F, Kingsbury Z, Kini U, Knight JC, Krohn J, Lamble S, Langman C, Lonie L, Luck J, McCarthy D, McGowan SJ, McMullin MF, Miller KA, Murray L, Németh AH, Nesbit MA, Nutt D, Ormondroyd E, Oturai AB, Pagnamenta A, Patel SY, Percy M, Petousi N, Piazza P, Piret SE, Polanco-Echeverry G, Popitsch N, Powrie F, Pugh C, Quek L, Robbins PA, Robson K, Russo A, Sahgal N, van Schouwenburg PA, Schuh A, Silverman E, Simmons A, Sørensen PS, Sweeney E, Taylor J, Thakker RV, Tomlinson I, Trebes A, Twigg SR, Uhlig HH, Vyas P, Vyse T, Wall SA, Watkins H, Whyte MP, Witty L, Wright B, Yau C, Buck D, Humphray S, Ratcliffe PJ, Bell JI, Wilkie AO, Bentley D, Donnelly P, McVean G.

Nat Genet. 2015 Jul;47(7):717-726. doi: 10.1038/ng.3304. Epub 2015 May 18.

39.

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
40.

Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia.

de Baaij JH, Dorresteijn EM, Hennekam EA, Kamsteeg EJ, Meijer R, Dahan K, Muller M, van den Dorpel MA, Bindels RJ, Hoenderop JG, Devuyst O, Knoers NV.

Nephrol Dial Transplant. 2015 Jun;30(6):952-7. doi: 10.1093/ndt/gfv014. Epub 2015 Mar 11.

41.

Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report.

Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O; Kidney Disease: Improving Global Outcomes.

Kidney Int. 2015 Oct;88(4):676-83. doi: 10.1038/ki.2015.28. Epub 2015 Mar 4.

PMID:
25738250
42.

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
43.

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