Affiliation: National Institute for Medical Research
Goodman F, Giovannucci Uzielli M, Hall C, Reardon W, Winter R, Scambler P. Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families. Am J Hum Genet. 1998;63:992-1000 pubmed
..Either possibility has interesting implications for the role of HOXD13 in human autopod development. ..
Goodman F, Bacchelli C, Brady A, Brueton L, Fryns J, Mortlock D, et al
. Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome. Am J Hum Genet. 2000;67:197-202 pubmed
..Mutations in HOXA13 can therefore cause more-severe limb abnormalities than previously suspected and may act by more than one mechanism. ..
Goodman F, Scambler P. Human HOX gene mutations. Clin Genet. 2001;59:1-11 pubmed
..Here we review the mutations already identified in these two genes, consider how these mutations may act, and discuss the possibility that further mutations remain to be discovered both in developmental disorders and in cancer. ..
Goodman F. Congenital abnormalities of body patterning: embryology revisited. Lancet. 2003;362:651-62 pubmed
Goodman F, Majewski F, Collins A, Scambler P. A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly. Am J Hum Genet. 2002;70:547-55 pubmed
..They also suggest that there is a regulatory region, upstream of the HOXD cluster, that is responsible for activating the cluster as a whole...
Goodman F. Limb malformations and the human HOX genes. Am J Med Genet. 2002;112:256-65 pubmed
..Limb malformations may also result from chromosomal deletions involving the HOXD and HOXA clusters, and from regulatory mutations affecting single or multiple HOX genes...