By Professor Tony Roscioli

Journal articles

McGillivray G; Savarirayan R; Cox TC; Stojkoski C; McNeil R; Bankier A; Bateman JF; Roscioli T; Gardner RJM; Lamandé SR, 2005, 'Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain', Journal of Medical Genetics, 42, pp. 656 - 662, http://dx.doi.org/10.1136/jmg.2004.027888

Roscioli T; Kennedy D; Cui JS; Fonseca BK; Watson GF; Pereira JK; Xie Y; Mowat DR, 2005, 'Pallister-Hall syndrome: Unreported skeletal features of a GLI3 mutation', American Journal of Medical Genetics Part A, 136A, pp. 390 - 394

Anderson PJ; Netherway DJ; Abbott AH; Cox T; Roscioli T; David DJ, 2004, 'Analysis of intracranial volume in Apert syndrome genotypes', Pediatric Neurosurgery, 40, pp. 161 - 164, http://dx.doi.org/10.1159/000081933

Morris AR; Mullan GL; Roscioli T; Buckley MF; Moore CH, 2004, 'A genetic linkage study of detrusor overactivity', Neurourology and Urodynamics, 23, pp. 404 - 406

Roscioli T; Taylor PC; Bohlken A; Donald JA; Masel J; Glass I; Buckley MF, 2004, 'The 10q24-linked split hand/split foot syndrome (SHFM3): Narrowing ofthe critical region and confirmation of the clinical phenotype', American Journal of Medical Genetics Part A, 124A, pp. 136 - 141

Rutsch F; Ruf N; Vaingankar S; Toliat MR; Suk A; Höhne W; Schauer G; Lehmann M; Roscioli T; Schnabel D; Epplen JT; Knisely A; Superti-Furga A; McGill J; Filippone M; Sinaiko AR; Vallance H; Hinrichs B; Smith W; Ferre M; Terkeltaub R; Nürnberg P, 2003, 'Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification', Nature Genetics, 34, pp. 379 - 381, http://dx.doi.org/10.1038/ng1221

Hyland VJ; Robertson SP; Flanagan S; Savarirayan R; Roscioli T; Masel J; Hayes M; Glass IA, 2003, 'Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia', American Journal of Medical Genetics, 120 A, pp. 157 - 168, http://dx.doi.org/10.1002/ajmg.a.20012

Milledge J; Shaw PJ; Mansour A; Williamson S; Bennetts B; Roscioli T; Curtin J; Christodoulou J, 2002, 'Allogeneic bone marrow transplantation: Cure for familial Mediterranean fever', Blood, 100, pp. 774 - 777, http://dx.doi.org/10.1182/blood-2002-02-0651

Roscioli T; Flanagan S; Mortimore RJ; Kumar P; Weedon D; Masel J; Lewandowski R; Hyland V; Glass IA, 2001, 'Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3', American Journal of Medical Genetics, 101, pp. 187 - 194, http://dx.doi.org/10.1002/ajmg.1369

Roscioli T; Flanagan S; Kumar P; Masel J; Gattas M; Hyland VJ; Glass IA, 2000, 'Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature', American Journal of Medical Genetics, 93, pp. 22 - 28, http://dx.doi.org/10.1002/1096-8628(20000703)93:1<22::AID-AJMG5>3.0.CO;2-U

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