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213 results

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Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.
Schmidts M, Arts HH, Bongers EM, Yap Z, Oud MM, Antony D, Duijkers L, Emes RD, Stalker J, Yntema JB, Plagnol V, Hoischen A, Gilissen C, Forsythe E, Lausch E, Veltman JA, Roeleveld N, Superti-Furga A, Kutkowska-Kazmierczak A, Kamsteeg EJ, Elçioğlu N, van Maarle MC, Graul-Neumann LM, Devriendt K, Smithson SF, Wellesley D, Verbeek NE, Hennekam RC, Kayserili H, Scambler PJ, Beales PL; UK10K; Knoers NV, Roepman R, Mitchison HM. Schmidts M, et al. Among authors: roeleveld n. J Med Genet. 2013 May;50(5):309-23. doi: 10.1136/jmedgenet-2012-101284. Epub 2013 Mar 1. J Med Genet. 2013. PMID: 23456818 Free PMC article.
Common variants in DGKK are strongly associated with risk of hypospadias.
van der Zanden LF, van Rooij IA, Feitz WF, Knight J, Donders AR, Renkema KY, Bongers EM, Vermeulen SH, Kiemeney LA, Veltman JA, Arias-Vásquez A, Zhang X, Markljung E, Qiao L, Baskin LS, Nordenskjöld A, Roeleveld N, Franke B, Knoers NV. van der Zanden LF, et al. Among authors: roeleveld n. Nat Genet. 2011 Jan;43(1):48-50. doi: 10.1038/ng.721. Epub 2010 Nov 28. Nat Genet. 2011. PMID: 21113153
Maternal risk factors involved in specific congenital anomalies of the kidney and urinary tract: A case-control study.
Groen In 't Woud S, Renkema KY, Schreuder MF, Wijers CH, van der Zanden LF, Knoers NV, Feitz WF, Bongers EM, Roeleveld N, van Rooij IA. Groen In 't Woud S, et al. Among authors: roeleveld n. Birth Defects Res A Clin Mol Teratol. 2016 Jul;106(7):596-603. doi: 10.1002/bdra.23500. Epub 2016 Apr 4. Birth Defects Res A Clin Mol Teratol. 2016. PMID: 27040999 Clinical Trial.
Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT.
Nicolaou N, Pulit SL, Nijman IJ, Monroe GR, Feitz WF, Schreuder MF, van Eerde AM, de Jong TP, Giltay JC, van der Zwaag B, Havenith MR, Zwakenberg S, van der Zanden LF, Poelmans G, Cornelissen EA, Lilien MR, Franke B, Roeleveld N, van Rooij IA, Cuppen E, Bongers EM, Giles RH, Knoers NV, Renkema KY. Nicolaou N, et al. Among authors: roeleveld n. Kidney Int. 2016 Feb;89(2):476-86. doi: 10.1038/ki.2015.319. Kidney Int. 2016. PMID: 26489027 Free article.
Deletions and loss-of-function variants in TP63 associated with orofacial clefting.
Khandelwal KD, van den Boogaard MH, Mehrem SL, Gebel J, Fagerberg C, van Beusekom E, van Binsbergen E, Topaloglu O, Steehouwer M, Gilissen C, Ishorst N, van Rooij IALM, Roeleveld N, Christensen K, Schoenaers J, Bergé S, Murray JC, Hens G, Devriendt K, Ludwig KU, Mangold E, Hoischen A, Zhou H, Dötsch V, Carels CEL, van Bokhoven H. Khandelwal KD, et al. Among authors: roeleveld n. Eur J Hum Genet. 2019 Jul;27(7):1101-1112. doi: 10.1038/s41431-019-0370-0. Epub 2019 Mar 8. Eur J Hum Genet. 2019. PMID: 30850703 Free PMC article. Clinical Trial.
Aetiology of hypospadias: a systematic review of genes and environment.
van der Zanden LF, van Rooij IA, Feitz WF, Franke B, Knoers NV, Roeleveld N. van der Zanden LF, et al. Among authors: roeleveld n. Hum Reprod Update. 2012 May-Jun;18(3):260-83. doi: 10.1093/humupd/dms002. Epub 2012 Feb 26. Hum Reprod Update. 2012. PMID: 22371315 Review.
213 results