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Page 1
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.
Narumi Y, Aoki Y, Niihori T, Neri G, Cavé H, Verloes A, Nava C, Kavamura MI, Okamoto N, Kurosawa K, Hennekam RC, Wilson LC, Gillessen-Kaesbach G, Wieczorek D, Lapunzina P, Ohashi H, Makita Y, Kondo I, Tsuchiya S, Ito E, Sameshima K, Kato K, Kure S, Matsubara Y. Narumi Y, et al. Among authors: hennekam rc. Am J Med Genet A. 2007 Apr 15;143A(8):799-807. doi: 10.1002/ajmg.a.31658. Am J Med Genet A. 2007. PMID: 17366577
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
Revised diagnostic criteria for the Marfan syndrome.
De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. De Paepe A, et al. Among authors: hennekam rc. Am J Med Genet. 1996 Apr 24;62(4):417-26. doi: 10.1002/(SICI)1096-8628(19960424)62:4<417::AID-AJMG15>3.0.CO;2-R. Am J Med Genet. 1996. PMID: 8723076
Further delineation of the acro-renal-ocular syndrome.
Aalfs CM, van Schooneveld MJ, van Keulen EM, Hennekam RC. Aalfs CM, et al. Among authors: hennekam rc. Am J Med Genet. 1996 Mar 29;62(3):276-81. doi: 10.1002/(SICI)1096-8628(19960329)62:3<276::AID-AJMG14>3.0.CO;2-H. Am J Med Genet. 1996. PMID: 8882787
Costello syndrome: report and review.
van Eeghen AM, van Gelderen I, Hennekam RC. van Eeghen AM, et al. Among authors: hennekam rc. Am J Med Genet. 1999 Jan 15;82(2):187-93. doi: 10.1002/(sici)1096-8628(19990115)82:2<187::aid-ajmg17>3.0.co;2-2. Am J Med Genet. 1999. PMID: 9934987 Review.
Further delineation of Frank-ter Haar syndrome.
Maas SM, Kayserili H, Lam J, Apak MY, Hennekam RC. Maas SM, et al. Among authors: hennekam rc. Am J Med Genet A. 2004 Dec 1;131(2):127-33. doi: 10.1002/ajmg.a.30244. Am J Med Genet A. 2004. PMID: 15523657 Review.
Further delineation of Kabuki syndrome in 48 well-defined new individuals.
Armstrong L, Abd El Moneim A, Aleck K, Aughton DJ, Baumann C, Braddock SR, Gillessen-Kaesbach G, Graham JM Jr, Grebe TA, Gripp KW, Hall BD, Hennekam R, Hunter A, Keppler-Noreuil K, Lacombe D, Lin AE, Ming JE, Kokitsu-Nakata NM, Nikkel SM, Philip N, Raas-Rothschild A, Sommer A, Verloes A, Walter C, Wieczorek D, Williams MS, Zackai E, Allanson JE. Armstrong L, et al. Am J Med Genet A. 2005 Jan 30;132A(3):265-72. doi: 10.1002/ajmg.a.30340. Am J Med Genet A. 2005. PMID: 15690370
595 results