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Page 1
Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN.
Torra R, Lipska-Ziętkiewicz B, Acke F, Antignac C, Becker JU, Cornec-Le Gall EC, van Eerde AM, Feltgen N, Ferrari R, Gale DP, Gross O, Haeberle S, Wlodkowski T, Heidet L, Lennon R, Massella L, Topaloglu R, Pfau K, Del Prado Venegas Pizarro M, Zealey H; ERKNet, ERA Genes&Kidney and ESPN WG Hereditary Kidney Disorders groups. Torra R, et al. Among authors: van eerde am. Nephrol Dial Transplant. 2024 Dec 2:gfae265. doi: 10.1093/ndt/gfae265. Online ahead of print. Nephrol Dial Transplant. 2024. PMID: 39673454
Genetic testing in a national cohort of adults with chronic kidney disease of unknown origin.
de Haan A, Eijgelsheim M, Vogt L, Hoorn EJ, Rotmans JI, Fortrie G, Marsman RFJ, Rothuizen TC, Spijker HS, Claus LR, Konings CJAM, Waanders F, Doornebal J, Kramer AB, Adema AY, van der Zwaag B, van Eerde AM, Knoers NVAM, de Borst MH. de Haan A, et al. Among authors: van eerde am. Nephrol Dial Transplant. 2024 Nov 19:gfae270. doi: 10.1093/ndt/gfae270. Online ahead of print. Nephrol Dial Transplant. 2024. PMID: 39562282
Perspectives of Patients and Clinicians on Reproductive Health Care and ADPKD.
Gosselink ME, Mooren R, Snoek R, Crombag NMTH, Vos P, Keijzer-Veen MG, van Eerde AM, Lely AT. Gosselink ME, et al. Among authors: van eerde am. Kidney Int Rep. 2024 Sep 2;9(11):3190-3203. doi: 10.1016/j.ekir.2024.08.028. eCollection 2024 Nov. Kidney Int Rep. 2024. PMID: 39534201 Free PMC article.
The Role of Genetic Testing in Adult CKD.
Knoers NVAM, van Eerde AM. Knoers NVAM, et al. Among authors: van eerde am. J Am Soc Nephrol. 2024 Aug 1;35(8):1107-1118. doi: 10.1681/ASN.0000000000000401. Epub 2024 May 6. J Am Soc Nephrol. 2024. PMID: 39288914
Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions.
Buffin-Meyer B, Richard J, Guigonis V, Weber S, König J, Heidet L, Moussaoui N, Vu JP, Faguer S, Casemayou A, Prakash R, Baudouin V, Hogan J, Alexandrou D, Bockenhauer D, Bacchetta J, Ranchin B, Pruhova S, Zieg J, Lahoche A, Okorn C, Antal-Kónya V, Morin D, Becherucci F, Habbig S, Liebau MC, Mauras M, Nijenhuis T, Llanas B, Mekahli D, Thumfart J, Tönshoff B, Massella L, Eckart P, Cloarec S, Cruz A, Patzer L, Roussey G, Vrillon I, Dunand O, Bessenay L, Taroni F, Zaniew M, Louillet F, Bergmann C, Schaefer F, van Eerde AM, Schanstra JP, Decramer S; HNF1B variant study group. Buffin-Meyer B, et al. Among authors: van eerde am. Kidney Int Rep. 2024 May 16;9(8):2514-2526. doi: 10.1016/j.ekir.2024.05.007. eCollection 2024 Aug. Kidney Int Rep. 2024. PMID: 39156164 Free PMC article.
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.
Dollfus H, Lilien MR, Maffei P, Verloes A, Muller J, Bacci GM, Cetiner M, van den Akker ELT, Grudzinska Pechhacker M, Testa F, Lacombe D, Stokman MF, Simonelli F, Gouronc A, Gavard A, van Haelst MM, Koenig J, Rossignol S, Bergmann C, Zacchia M, Leroy BP, Mosbah H, Van Eerde AM, Mekahli D, Servais A, Poitou C, Valverde D. Dollfus H, et al. Among authors: van eerde am. Eur J Hum Genet. 2024 Nov;32(11):1347-1360. doi: 10.1038/s41431-024-01634-7. Epub 2024 Jul 31. Eur J Hum Genet. 2024. PMID: 39085583 Free PMC article. Review.
Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants.
Bosman W, Franken GAC, de Las Heras J, Madariaga L, Barakat TS, Oostenbrink R, van Slegtenhorst M, Perdomo-Ramírez A, Claverie-Martín F, van Eerde AM, Vargas-Poussou R, Dubourg LD, González-Recio I, Martínez-Cruz LA, de Baaij JHF, Hoenderop JGJ. Bosman W, et al. Among authors: van eerde am. Sci Rep. 2024 Mar 22;14(1):6917. doi: 10.1038/s41598-024-57061-7. Sci Rep. 2024. PMID: 38519529 Free PMC article.
Medullary Sponge Kidney and Its Relationship with Primary Distal Renal Tubular Acidosis: Case Reports and a Comprehensive Genetics-First Approach.
van den Berg G, Claus LR, van der Zwaag B, Lakeman P; Genomics England Research Consortium; Kaasenbrood L, Sayer JA, Lilien MR, van Eerde AM. van den Berg G, et al. Among authors: van eerde am. Nephron. 2024;148(8):569-577. doi: 10.1159/000538037. Epub 2024 Mar 8. Nephron. 2024. PMID: 38447554 Free PMC article.
50 results