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Wolf-Hirschhorn (4P-) syndrome in adults.
Marcelis C, Schrander-Stumpel C, Engelen J, Schoonbrood-Lenssen A, Willemse A, Beemer F, Sigaudy S, Missirian C, Philip N, Fryns JP. Marcelis C, et al. Genet Couns. 2001;12(1):35-48. Genet Couns. 2001. PMID: 11332977 Review.
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.
van Bokhoven H, Hamel BC, Bamshad M, Sangiorgi E, Gurrieri F, Duijf PH, Vanmolkot KR, van Beusekom E, van Beersum SE, Celli J, Merkx GF, Tenconi R, Fryns JP, Verloes A, Newbury-Ecob RA, Raas-Rotschild A, Majewski F, Beemer FA, Janecke A, Chitayat D, Crisponi G, Kayserili H, Yates JR, Neri G, Brunner HG. van Bokhoven H, et al. Among authors: beemer fa. Am J Hum Genet. 2001 Sep;69(3):481-92. doi: 10.1086/323123. Epub 2001 Jul 17. Am J Hum Genet. 2001. PMID: 11462173 Free PMC article.
Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12-q13.
Takahashi M, Rapley E, Biggs PJ, Lakhani SR, Cooke D, Hansen J, Blair E, Hofmann B, Siebert R, Turner G, Evans DG, Schrander-Stumpel C, Beemer FA, van Vloten WA, Breuning MH, van den Ouweland A, Halley D, Delpech B, Cleveland M, Leigh I, Chapman P, Burn J, Hohl D, Görög JP, Seal S, Mangion J. Takahashi M, et al. Among authors: beemer fa. Hum Genet. 2000 Jan;106(1):58-65. doi: 10.1007/s004399900227. Hum Genet. 2000. PMID: 10982183
Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome.
Goodman FR, Bacchelli C, Brady AF, Brueton LA, Fryns JP, Mortlock DP, Innis JW, Holmes LB, Donnenfeld AE, Feingold M, Beemer FA, Hennekam RC, Scambler PJ. Goodman FR, et al. Among authors: beemer fa. Am J Hum Genet. 2000 Jul;67(1):197-202. doi: 10.1086/302961. Epub 2000 Jun 5. Am J Hum Genet. 2000. PMID: 10839976 Free PMC article.
Identification of the familial cylindromatosis tumour-suppressor gene.
Bignell GR, Warren W, Seal S, Takahashi M, Rapley E, Barfoot R, Green H, Brown C, Biggs PJ, Lakhani SR, Jones C, Hansen J, Blair E, Hofmann B, Siebert R, Turner G, Evans DG, Schrander-Stumpel C, Beemer FA, van Den Ouweland A, Halley D, Delpech B, Cleveland MG, Leigh I, Leisti J, Rasmussen S. Bignell GR, et al. Among authors: beemer fa. Nat Genet. 2000 Jun;25(2):160-5. doi: 10.1038/76006. Nat Genet. 2000. PMID: 10835629
230 results