Autism, language and communication in children with sex chromosome trisomiesBISHOP, Dorothy V. M; JACOBS, Patricia A; SHEARS, Deborah et al.Archives of disease in childhood. 2011, Vol 96, Num 10, pp 954-959, issn 0003-9888, 6 p.Article

Kantaputra mesomelic dysplasia: A second reported familySHEARS, Deborah J; OFFIAH, Amaka; RUTLAND, Paul et al.American journal of medical genetics. 2004, Vol 128A, Num 1, pp 6-11, issn 0148-7299, 6 p.Article

Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutationSHEARS, Deborah J; GUILLEN-NAVARRO, Encarna; SEMPERE-MIRALLES, Manuel et al.American journal of medical genetics. 2002, Vol 110, Num 2, pp 153-157, issn 0148-7299Article

Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2qKANTAPUTRA, Piranit N; MOPOCKI, Eva; HENNIG, Bianca P et al.European journal of human genetics. 2010, Vol 18, Num 12, pp 1310-1314, issn 1018-4813, 5 p.Article

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humansROBERTSON, Stephen P; TWIGG, Stephen R. F; ØRSTAVIK, Karen H et al.Nature genetics. 2003, Vol 33, Num 4, pp 487-491, issn 1061-4036, 5 p.Article

Frontometaphyseal dysplasia : Mutations in FLNA and phenotypic diversityROBERTSON, Stephen P; JENKINS, Zandra A; DER KALOUSTIAN, Vazken et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 16, pp 1726-1736, issn 1552-4825, 11 p.Article