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Page 1
Pathogenic PHIP Variants are Variably Associated With CAKUT.
de Fallois J, Sieckmann T, Schönauer R, Petzold F, Münch J, Pauly M, Vasileiou G, Findeisen C, Kampmeier A, Kuechler A, Reis A, Decker E, Bergmann C, Platzer K, Tasic V, Kirschner KM, Shril S, Hildebrandt F, Chung WK, Halbritter J. de Fallois J, et al. Among authors: munch j. Kidney Int Rep. 2024 May 27;9(8):2484-2497. doi: 10.1016/j.ekir.2024.05.024. eCollection 2024 Aug. Kidney Int Rep. 2024. PMID: 39156152 Free PMC article.
COL4A5-p.Gly624Asp is the Predominant Variant in Europe Associated With a Mild Alport Syndrome Phenotype.
Krüger BM, Jens A, Neuhaus A, Ćomić J, Berutti R, de Fallois J, Petzold F, Münch J, Kowald J, Lindner TH, Budde K, Brüning KK, Thumfart J, Haas J, Brigl CB, Amann K, Tasic V, Abazi-Emini N, Nushi-Stavileci V, Putnik J, Stajić N, Seelow E, Hammett C, Eckardt KU, Riedhammer KM, Schrezenmeier EV, Hoefele J, Halbritter J. Krüger BM, et al. Among authors: munch j. Kidney Int Rep. 2025 Mar 6;10(5):1372-1383. doi: 10.1016/j.ekir.2025.02.031. eCollection 2025 May. Kidney Int Rep. 2025. PMID: 40485705 Free PMC article.
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.
Schönauer R, Jin W, Findeisen C, Valenzuela I, Devlin LA, Murrell J, Bedoukian EC, Pöschla L, Hantmann E, Riedhammer KM, Hoefele J, Platzer K, Biemann R, Campeau PM, Münch J, Heyne H, Hoffmann A, Ghosh A, Sun W, Dong H, Noé F, Wolfrum C, Woods E, Parker MJ, Neatu R, Le Guyader G, Bruel AL, Perrin L, Spiewak H; Genomics England Research Consortium; Missotte I, Fourgeaud M, Michaud V, Lacombe D, Paolucci SA, Buchan JG, Glissmeyer M, Popp B, Blüher M, Sayer JA, Halbritter J. Schönauer R, et al. Among authors: munch j. Am J Hum Genet. 2023 Jun 1;110(6):998-1007. doi: 10.1016/j.ajhg.2023.04.010. Epub 2023 May 18. Am J Hum Genet. 2023. PMID: 37207645 Free PMC article.
19 results