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Page 1
Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome.
van de Laar IM, van der Linde D, Oei EH, Bos PK, Bessems JH, Bierma-Zeinstra SM, van Meer BL, Pals G, Oldenburg RA, Bekkers JA, Moelker A, de Graaf BM, Matyas G, Frohn-Mulder IM, Timmermans J, Hilhorst-Hofstee Y, Cobben JM, Bruggenwirth HT, van Laer L, Loeys B, De Backer J, Coucke PJ, Dietz HC, Willems PJ, Oostra BA, De Paepe A, Roos-Hesselink JW, Bertoli-Avella AM, Wessels MW. van de Laar IM, et al. Among authors: cobben jm. J Med Genet. 2012 Jan;49(1):47-57. doi: 10.1136/jmedgenet-2011-100382. J Med Genet. 2012. PMID: 22167769
Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants.
van der Linde D, van de Laar IM, Bertoli-Avella AM, Oldenburg RA, Bekkers JA, Mattace-Raso FU, van den Meiracker AH, Moelker A, van Kooten F, Frohn-Mulder IM, Timmermans J, Moltzer E, Cobben JM, van Laer L, Loeys B, De Backer J, Coucke PJ, De Paepe A, Hilhorst-Hofstee Y, Wessels MW, Roos-Hesselink JW. van der Linde D, et al. Among authors: cobben jm. J Am Coll Cardiol. 2012 Jul 31;60(5):397-403. doi: 10.1016/j.jacc.2011.12.052. Epub 2012 May 23. J Am Coll Cardiol. 2012. PMID: 22633655 Free article.
Compound-heterozygous Marfan syndrome.
Van Dijk FS, Hamel BC, Hilhorst-Hofstee Y, Mulder BJ, Timmermans J, Pals G, Cobben JM. Van Dijk FS, et al. Among authors: cobben jm. Eur J Med Genet. 2009 Jan-Feb;52(1):1-5. doi: 10.1016/j.ejmg.2008.11.004. Epub 2008 Nov 27. Eur J Med Genet. 2009. PMID: 19059503
The clinical spectrum of complete FBN1 allele deletions.
Hilhorst-Hofstee Y, Hamel BC, Verheij JB, Rijlaarsdam ME, Mancini GM, Cobben JM, Giroth C, Ruivenkamp CA, Hansson KB, Timmermans J, Moll HA, Breuning MH, Pals G. Hilhorst-Hofstee Y, et al. Among authors: cobben jm. Eur J Hum Genet. 2011 Mar;19(3):247-52. doi: 10.1038/ejhg.2010.174. Epub 2010 Nov 10. Eur J Hum Genet. 2011. PMID: 21063442 Free PMC article.
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
Van Dijk FS, Nesbitt IM, Nikkels PG, Dalton A, Bongers EM, van de Kamp JM, Hilhorst-Hofstee Y, Den Hollander NS, Lachmeijer AM, Marcelis CL, Tan-Sindhunata GM, van Rijn RR, Meijers-Heijboer H, Cobben JM, Pals G. Van Dijk FS, et al. Among authors: cobben jm. Eur J Hum Genet. 2009 Dec;17(12):1560-9. doi: 10.1038/ejhg.2009.75. Epub 2009 Jun 24. Eur J Hum Genet. 2009. PMID: 19550437 Free PMC article.
Classification of Osteogenesis Imperfecta revisited.
Van Dijk FS, Pals G, Van Rijn RR, Nikkels PG, Cobben JM. Van Dijk FS, et al. Among authors: cobben jm. Eur J Med Genet. 2010 Jan-Feb;53(1):1-5. doi: 10.1016/j.ejmg.2009.10.007. Epub 2009 Oct 28. Eur J Med Genet. 2010. PMID: 19878741 Review.
NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield.
Overwater E, Floor K, van Beek D, de Boer K, van Dijk T, Hilhorst-Hofstee Y, Hoogeboom AJM, van Kaam KJ, van de Kamp JM, Kempers M, Krapels IPC, Kroes HY, Loeys B, Salemink S, Stumpel CTRM, Verhoeven VJM, Wijnands-van den Berg E, Cobben JM, van Tintelen JP, Weiss MM, Houweling AC, Maugeri A. Overwater E, et al. Among authors: cobben jm. Eur J Med Genet. 2017 Sep;60(9):465-473. doi: 10.1016/j.ejmg.2017.06.005. Epub 2017 Jun 19. Eur J Med Genet. 2017. PMID: 28642162
Complete COL1A1 allele deletions in osteogenesis imperfecta.
van Dijk FS, Huizer M, Kariminejad A, Marcelis CL, Plomp AS, Terhal PA, Meijers-Heijboer H, Weiss MM, van Rijn RR, Cobben JM, Pals G. van Dijk FS, et al. Among authors: cobben jm. Genet Med. 2010 Nov;12(11):736-41. doi: 10.1097/GIM.0b013e3181f01617. Genet Med. 2010. PMID: 21113976 Free article.
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
Maas SM, Shaw AC, Bikker H, Lüdecke HJ, van der Tuin K, Badura-Stronka M, Belligni E, Biamino E, Bonati MT, Carvalho DR, Cobben J, de Man SA, Den Hollander NS, Di Donato N, Garavelli L, Grønborg S, Herkert JC, Hoogeboom AJ, Jamsheer A, Latos-Bielenska A, Maat-Kievit A, Magnani C, Marcelis C, Mathijssen IB, Nielsen M, Otten E, Ousager LB, Pilch J, Plomp A, Poke G, Poluha A, Posmyk R, Rieubland C, Silengo M, Simon M, Steichen E, Stumpel C, Szakszon K, Polonkai E, van den Ende J, van der Steen A, van Essen T, van Haeringen A, van Hagen JM, Verheij JB, Mannens MM, Hennekam RC. Maas SM, et al. Among authors: cobben j. Eur J Med Genet. 2015 May;58(5):279-92. doi: 10.1016/j.ejmg.2015.03.002. Epub 2015 Mar 16. Eur J Med Genet. 2015. PMID: 25792522
135 results