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Page 1
Reassuring pregnancy outcomes in women with mild COL4A3-5-related disease (Alport syndrome) and genetic type of disease can aid personalized counseling.
Gosselink ME, Snoek R, Cerkauskaite-Kerpauskiene A, van Bakel SPJ, Vollenberg R, Groen H, Cerkauskiene R, Miglinas M, Attini R, Tory K, Claes KJ, van Calsteren K, Servais A, de Jong MFC, Gillion V, Vogt L, Mastrangelo A, Furlano M, Torra R, Bramham K, Wiles K, Ralston ER, Hall M, Liu L, Hladunewich MA, Lely AT, van Eerde AM; ALPART working group. Gosselink ME, et al. Among authors: van bakel spj, van calsteren k, van eerde am. Kidney Int. 2024 May;105(5):1088-1099. doi: 10.1016/j.kint.2024.01.034. Epub 2024 Feb 19. Kidney Int. 2024. PMID: 38382843 Free article.
Wnt5a Deficiency Leads to Anomalies in Ureteric Tree Development, Tubular Epithelial Cell Organization and Basement Membrane Integrity Pointing to a Role in Kidney Collecting Duct Patterning.
Pietilä I, Prunskaite-Hyyryläinen R, Kaisto S, Tika E, van Eerde AM, Salo AM, Garma L, Miinalainen I, Feitz WF, Bongers EM, Juffer A, Knoers NV, Renkema KY, Myllyharju J, Vainio SJ. Pietilä I, et al. Among authors: van eerde am. PLoS One. 2016 Jan 21;11(1):e0147171. doi: 10.1371/journal.pone.0147171. eCollection 2016. PLoS One. 2016. PMID: 26794322 Free PMC article.
KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease.
Boulogne F, Claus LR, Wiersma H, Oelen R, Schukking F, de Klein N, Li S, Westra HJ, van der Zwaag B, van Reekum F; Genomics England Research Consortium; Sierks D, Schönauer R, Li Z, Bijlsma EK, Bos WJW, Halbritter J, Knoers NVAM, Besse W, Deelen P, Franke L, van Eerde AM. Boulogne F, et al. Among authors: van reekum f, van der zwaag b, van eerde am. Eur J Hum Genet. 2023 Nov;31(11):1300-1308. doi: 10.1038/s41431-023-01296-x. Epub 2023 Feb 20. Eur J Hum Genet. 2023. PMID: 36807342 Free PMC article.
Differences in presentation and progression between severe FIC1 and BSEP deficiencies.
Pawlikowska L, Strautnieks S, Jankowska I, Czubkowski P, Emerick K, Antoniou A, Wanty C, Fischler B, Jacquemin E, Wali S, Blanchard S, Nielsen IM, Bourke B, McQuaid S, Lacaille F, Byrne JA, van Eerde AM, Kolho KL, Klomp L, Houwen R, Bacchetti P, Lobritto S, Hupertz V, McClean P, Mieli-Vergani G, Shneider B, Nemeth A, Sokal E, Freimer NB, Knisely AS, Rosenthal P, Whitington PF, Pawlowska J, Thompson RJ, Bull LN. Pawlikowska L, et al. Among authors: van eerde am. J Hepatol. 2010 Jul;53(1):170-8. doi: 10.1016/j.jhep.2010.01.034. Epub 2010 Apr 13. J Hepatol. 2010. PMID: 20447715 Free PMC article.
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.
Dubail J, Huber C, Chantepie S, Sonntag S, Tüysüz B, Mihci E, Gordon CT, Steichen-Gersdorf E, Amiel J, Nur B, Stolte-Dijkstra I, van Eerde AM, van Gassen KL, Breugem CC, Stegmann A, Lekszas C, Maroofian R, Karimiani EG, Bruneel A, Seta N, Munnich A, Papy-Garcia D, De La Dure-Molla M, Cormier-Daire V. Dubail J, et al. Among authors: van eerde am, van gassen kl. Nat Commun. 2018 Aug 6;9(1):3087. doi: 10.1038/s41467-018-05191-8. Nat Commun. 2018. PMID: 30082715 Free PMC article.
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.
Lu W, van Eerde AM, Fan X, Quintero-Rivera F, Kulkarni S, Ferguson H, Kim HG, Fan Y, Xi Q, Li QG, Sanlaville D, Andrews W, Sundaresan V, Bi W, Yan J, Giltay JC, Wijmenga C, de Jong TP, Feather SA, Woolf AS, Rao Y, Lupski JR, Eccles MR, Quade BJ, Gusella JF, Morton CC, Maas RL. Lu W, et al. Among authors: van eerde am. Am J Hum Genet. 2007 Apr;80(4):616-32. doi: 10.1086/512735. Epub 2007 Feb 14. Am J Hum Genet. 2007. PMID: 17357069 Free PMC article.
Identification of human D lactate dehydrogenase deficiency.
Monroe GR, van Eerde AM, Tessadori F, Duran KJ, Savelberg SMC, van Alfen JC, Terhal PA, van der Crabben SN, Lichtenbelt KD, Fuchs SA, Gerrits J, van Roosmalen MJ, van Gassen KL, van Aalderen M, Koot BG, Oostendorp M, Duran M, Visser G, de Koning TJ, Calì F, Bosco P, Geleijns K, de Sain-van der Velden MGM, Knoers NV, Bakkers J, Verhoeven-Duif NM, van Haaften G, Jans JJ. Monroe GR, et al. Among authors: van der crabben sn, van aalderen m, van haaften g, van alfen jc, van roosmalen mj, van eerde am, van gassen kl. Nat Commun. 2019 Apr 1;10(1):1477. doi: 10.1038/s41467-019-09458-6. Nat Commun. 2019. PMID: 30931947 Free PMC article.
Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.
Hwang DY, Kohl S, Fan X, Vivante A, Chan S, Dworschak GC, Schulz J, van Eerde AM, Hilger AC, Gee HY, Pennimpede T, Herrmann BG, van de Hoek G, Renkema KY, Schell C, Huber TB, Reutter HM, Soliman NA, Stajic N, Bogdanovic R, Kehinde EO, Lifton RP, Tasic V, Lu W, Hildebrandt F. Hwang DY, et al. Among authors: van de hoek g, van eerde am. Hum Genet. 2015 Aug;134(8):905-16. doi: 10.1007/s00439-015-1570-5. Epub 2015 May 31. Hum Genet. 2015. PMID: 26026792 Free PMC article. Clinical Trial.
55 results