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Short rib syndrome--Beemer type in sibs.
Hennekam RC. Hennekam RC. Am J Med Genet. 1991 Aug 1;40(2):230-3. doi: 10.1002/ajmg.1320400221. Am J Med Genet. 1991. PMID: 1897578 Review.
Ectrodactyly in sisters and half sisters.
Hennekam RC, Lommen EJ. Hennekam RC, et al. J Med Genet. 1988 Feb;25(2):134-5. doi: 10.1136/jmg.25.2.134. J Med Genet. 1988. PMID: 3346888 Free PMC article. No abstract available.
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
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.
Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, Bendix L, Björck E, Bonduelle M, Boute O, Cormier-Daire V, De Die-Smulders C, Dieux-Coeslier A, Dollfus H, Elting M, Green A, Guerci VI, Hennekam RC, Hilhorts-Hofstee Y, Holder M, Hoyng C, Jones KJ, Josifova D, Kaitila I, Kjaergaard S, Kroes YH, Lagerstedt K, Lees M, Lemerrer M, Magnani C, Marcelis C, Martorell L, Mathieu M, McEntagart M, Mendicino A, Morton J, Orazio G, Paquis V, Reish O, Simola KO, Smithson SF, Temple KI, Van Aken E, Van Bever Y, van den Ende J, Van Hagen JM, Zelante L, Zordania R, De Paepe A, Leroy BP, De Buyzere M, Coucke PJ, Mortier GR. Hoornaert KP, et al. Among authors: hennekam rc. Eur J Hum Genet. 2010 Aug;18(8):872-80. doi: 10.1038/ejhg.2010.23. Epub 2010 Feb 24. Eur J Hum Genet. 2010. PMID: 20179744 Free PMC article.
Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.
Dai J, Kim OH, Cho TJ, Schmidt-Rimpler M, Tonoki H, Takikawa K, Haga N, Miyoshi K, Kitoh H, Yoo WJ, Choi IH, Song HR, Jin DK, Kim HT, Kamasaki H, Bianchi P, Grigelioniene G, Nampoothiri S, Minagawa M, Miyagawa SI, Fukao T, Marcelis C, Jansweijer MC, Hennekam RC, Bedeschi F, Mustonen A, Jiang Q, Ohashi H, Furuichi T, Unger S, Zabel B, Lausch E, Superti-Furga A, Nishimura G, Ikegawa S. Dai J, et al. Among authors: hennekam rc. J Med Genet. 2010 Oct;47(10):704-9. doi: 10.1136/jmg.2009.075358. Epub 2010 Jun 24. J Med Genet. 2010. PMID: 20577006
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.
Allali S, Le Goff C, Pressac-Diebold I, Pfennig G, Mahaut C, Dagoneau N, Alanay Y, Brady AF, Crow YJ, Devriendt K, Drouin-Garraud V, Flori E, Geneviève D, Hennekam RC, Hurst J, Krakow D, Le Merrer M, Lichtenbelt KD, Lynch SA, Lyonnet S, MacDermot K, Mansour S, Megarbané A, Santos HG, Splitt M, Superti-Furga A, Unger S, Williams D, Munnich A, Cormier-Daire V. Allali S, et al. Among authors: hennekam rc. J Med Genet. 2011 Jun;48(6):417-21. doi: 10.1136/jmg.2010.087544. Epub 2011 Mar 17. J Med Genet. 2011. PMID: 21415077 Free PMC article.
587 results