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Page 1
Pseudo-Bartter syndrome: A CFTR-related disorder?
Rodriguez Mier N, Antoons V, Cuyx S, Santo Ramalho A, Boon M, Proesmans M, Mekahli D, Vermeulen F. Rodriguez Mier N, et al. Among authors: mekahli d. J Cyst Fibros. 2024 Oct 31:S1569-1993(24)01799-5. doi: 10.1016/j.jcf.2024.10.007. Online ahead of print. J Cyst Fibros. 2024. PMID: 39482189
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: mekahli d. 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: mekahli d. 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.
Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal Dominant Structural Kidney Disorders and the ERA Genes & Kidney Working Group.
Mekahli D, Müller RU, Marlais M, Wlodkowski T, Haeberle S, de Argumedo ML, Bergmann C, Breysem L, Fladrowski C, Henske EP, Janssens P, Jouret F, Kingswood JC, Lattouf JB, Lilien M, Maleux G, Rozenberg M, Siemer S, Devuyst O, Schaefer F, Kwiatkowski DJ, Rouvière O, Bissler J. Mekahli D, et al. Nat Rev Nephrol. 2024 Jun;20(6):402-420. doi: 10.1038/s41581-024-00818-0. Epub 2024 Mar 5. Nat Rev Nephrol. 2024. PMID: 38443710 Review.
Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome.
Delafontaine S, Iannuzzo A, Bigley TM, Mylemans B, Rana R, Baatsen P, Poli MC, Rymen D, Jansen K, Mekahli D, Casteels I, Cassiman C, Demaerel P, Lepelley A, Frémond ML, Schrijvers R, Bossuyt X, Vints K, Huybrechts W, Tacine R, Willekens K, Corveleyn A, Boeckx B, Baggio M, Ehlers L, Munck S, Lambrechts D, Voet A, Moens L, Bucciol G, Cooper MA, Davis CM, Delon J, Meyts I. Delafontaine S, et al. Among authors: mekahli d. J Clin Invest. 2024 Jan 4;134(4):e163604. doi: 10.1172/JCI163604. J Clin Invest. 2024. PMID: 38175705 Free PMC article.
A Population Model of Time-Dependent Changes in Serum Creatinine in (Near)term Neonates with Hypoxic-Ischemic Encephalopathy During and After Therapeutic Hypothermia.
Krzyzanski W, Wintermark P, Annaert P, Groenendaal F, Şahin S, Öncel MY, Armangil D, Koc E, Battin MR, Gunn AJ, Frymoyer A, Chock VY, Keles E, Mekahli D, van den Anker J, Smits A, Allegaert K. Krzyzanski W, et al. Among authors: mekahli d. AAPS J. 2023 Dec 5;26(1):4. doi: 10.1208/s12248-023-00851-0. AAPS J. 2023. PMID: 38051395 Free PMC article.
Standardized 4-point scoring scale of [18F]-FDG PET/CT imaging helps in the diagnosis of renal and hepatic cyst infections in patients with autosomal dominant polycystic kidney disease: a validation cohort.
Demuynck S, Lovinfosse P, Seidel L, Jentjens S, Mekahli D, Jouret F, Bammens B, Goffin K. Demuynck S, et al. Among authors: mekahli d. Clin Kidney J. 2023 Jul 5;16(12):2542-2548. doi: 10.1093/ckj/sfad159. eCollection 2023 Dec. Clin Kidney J. 2023. PMID: 38046039 Free PMC article.
128 results