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Page 1
Kabuki syndrome: a review study of three hundred patients.
Wessels MW, Brooks AS, Hoogeboom J, Niermeijer MF, Willems PJ. Wessels MW, et al. Among authors: willems pj. Clin Dysmorphol. 2002 Apr;11(2):95-102. doi: 10.1097/00019605-200204000-00004. Clin Dysmorphol. 2002. PMID: 12002156 Review.
Unexpected life-threatening complications in Kabuki syndrome.
van Haelst MM, Brooks AS, Hoogeboom J, Wessels MW, Tibboel D, de Jongste JC, den Hollander JC, Bongers-Schokking JJ, Niermeijer MF, Willems PJ. van Haelst MM, et al. Among authors: willems pj. Am J Med Genet. 2000 Sep 11;94(2):170-3. doi: 10.1002/1096-8628(20000911)94:2<170::aid-ajmg10>3.0.co;2-2. Am J Med Genet. 2000. PMID: 10982974
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.
Brooks AS, Bertoli-Avella AM, Burzynski GM, Breedveld GJ, Osinga J, Boven LG, Hurst JA, Mancini GM, Lequin MH, de Coo RF, Matera I, de Graaff E, Meijers C, Willems PJ, Tibboel D, Oostra BA, Hofstra RM. Brooks AS, et al. Among authors: willems pj. Am J Hum Genet. 2005 Jul;77(1):120-6. doi: 10.1086/431244. Epub 2005 May 9. Am J Hum Genet. 2005. PMID: 15883926 Free PMC article.
A novel susceptibility locus for Hirschsprung's disease maps to 4q31.3-q32.3.
Brooks AS, Leegwater PA, Burzynski GM, Willems PJ, de Graaf B, van Langen I, Heutink P, Oostra BA, Hofstra RM, Bertoli-Avella AM. Brooks AS, et al. Among authors: willems pj. J Med Genet. 2006 Jul;43(7):e35. doi: 10.1136/jmg.2005.038125. J Med Genet. 2006. PMID: 16816022 Free PMC article.
Fryns syndrome without diaphragmatic hernia?
Willems PJ, Keersmaekers GH, Dom KE, Colpaert C, Schatteman E, Vergote IB, Dumon JE. Willems PJ, et al. Am J Med Genet. 1991 Nov 1;41(2):255-7. doi: 10.1002/ajmg.1320410225. Am J Med Genet. 1991. PMID: 1785645 Review.
Three new families with arterial tortuosity syndrome.
Wessels MW, Catsman-Berrevoets CE, Mancini GM, Breuning MH, Hoogeboom JJ, Stroink H, Frohn-Mulder I, Coucke PJ, Paepe AD, Niermeijer MF, Willems PJ. Wessels MW, et al. Among authors: willems pj. Am J Med Genet A. 2004 Dec 1;131(2):134-43. doi: 10.1002/ajmg.a.30272. Am J Med Genet A. 2004. PMID: 15529317
Autosomal dominant inheritance of left ventricular outflow tract obstruction.
Wessels MW, Berger RM, Frohn-Mulder IM, Roos-Hesselink JW, Hoogeboom JJ, Mancini GS, Bartelings MM, Krijger Rd, Wladimiroff JW, Niermeijer MF, Grossfeld P, Willems PJ. Wessels MW, et al. Among authors: willems pj. Am J Med Genet A. 2005 Apr 15;134A(2):171-9. doi: 10.1002/ajmg.a.30601. Am J Med Genet A. 2005. PMID: 15712195
257 results