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Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.
Hannes FD, Sharp AJ, Mefford HC, de Ravel T, Ruivenkamp CA, Breuning MH, Fryns JP, Devriendt K, Van Buggenhout G, Vogels A, Stewart H, Hennekam RC, Cooper GM, Regan R, Knight SJ, Eichler EE, Vermeesch JR. Hannes FD, et al. Among authors: hennekam rc. J Med Genet. 2009 Apr;46(4):223-32. doi: 10.1136/jmg.2007.055202. Epub 2008 Jun 11. J Med Genet. 2009. PMID: 18550696 Free PMC article.
Oculoauriculovertebral spectrum and cerebral anomalies.
Schrander-Stumpel CT, de Die-Smulders CE, Hennekam RC, Fryns JP, Bouckaert PX, Brouwer OF, da Costa JJ, Lommen EJ, Maaswinkel-Mooy PD. Schrander-Stumpel CT, et al. Among authors: hennekam rc. J Med Genet. 1992 May;29(5):326-31. doi: 10.1136/jmg.29.5.326. J Med Genet. 1992. PMID: 1583660 Free PMC article. Review.
Further delineation of the Yunis-Varon syndrome.
Hennekam RC, Vermeulen-Meiners C. Hennekam RC, et al. J Med Genet. 1989 Jan;26(1):55-8. doi: 10.1136/jmg.26.1.55. J Med Genet. 1989. PMID: 2918527 Free PMC article.
Clinical profile of Angelman syndrome at different ages.
Buntinx IM, Hennekam RC, Brouwer OF, Stroink H, Beuten J, Mangelschots K, Fryns JP. Buntinx IM, et al. Among authors: hennekam rc. Am J Med Genet. 1995 Mar 27;56(2):176-83. doi: 10.1002/ajmg.1320560213. Am J Med Genet. 1995. PMID: 7625442
18q- and 18q+ mosaicism in a mentally retarded boy.
Ausems MG, Bhola SL, Post-Blok CA, Hennekam RC, de France HF. Ausems MG, et al. Among authors: hennekam rc. Am J Med Genet. 1994 Nov 15;53(3):296-9. doi: 10.1002/ajmg.1320530317. Am J Med Genet. 1994. PMID: 7856666
595 results