Roscioli T - Search Results

1

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.

Lee E, Le T, Zhu Y, Elakis G, Turner A, Lo W, Venselaar H, Verrenkamp CA, Snow N, Mowat D, Kirk EP, Sachdev R, Smith J, Brown NJ, Wallis M, Barnett C, McKenzie F, Freckmann ML, Collins F, Chopra M, Gregersen N, Hayes I, Rajagopalan S, Tan TY, Stark Z, Savarirayan R, Yeung A, Adès L, Gattas M, Gibson K, Gabbett M, Amor DJ, Lattanzi W, Boyd S, Haan E, Gianoutsos M, Cox TC, Buckley MF, Roscioli T. Lee E, et al. Among authors: roscioli t. Genet Med. 2018 Sep;20(9):1061-1068. doi: 10.1038/gim.2017.214. Epub 2017 Dec 7. Genet Med. 2018. PMID: 29215649 Free article.

2

Clinical findings in a patient with FGFR1 P252R mutation and comparison with the literature.

Roscioli T, Flanagan S, Kumar P, Masel J, Gattas M, Hyland VJ, Glass IA. Roscioli T, et al. Am J Med Genet. 2000 Jul 3;93(1):22-8. doi: 10.1002/1096-8628(20000703)93:1<22::aid-ajmg5>3.0.co;2-u. Am J Med Genet. 2000. PMID: 10861678 Review.

3

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.

Roscioli T, Flanagan S, Mortimore RJ, Kumar P, Weedon D, Masel J, Lewandowski R, Hyland V, Glass IA. Roscioli T, et al. Am J Med Genet. 2001 Jul 1;101(3):187-94. doi: 10.1002/ajmg.1369. Am J Med Genet. 2001. PMID: 11424131

4

Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia.

Hyland VJ, Robertson SP, Flanagan S, Savarirayan R, Roscioli T, Masel J, Hayes M, Glass IA. Hyland VJ, et al. Among authors: roscioli t. Am J Med Genet A. 2003 Jul 15;120A(2):157-68. doi: 10.1002/ajmg.a.20012. Am J Med Genet A. 2003. PMID: 12833394

5

The 10q24-linked split hand/split foot syndrome (SHFM3): narrowing of the critical region and confirmation of the clinical phenotype.

Roscioli T, Taylor PJ, Bohlken A, Donald JA, Masel J, Glass IA, Buckley MF. Roscioli T, et al. Am J Med Genet A. 2004 Jan 15;124A(2):136-41. doi: 10.1002/ajmg.a.20348. Am J Med Genet A. 2004. PMID: 14699611

6

Analysis of intracranial volume in apert syndrome genotypes.

Anderson PJ, Netherway DJ, Abbott AH, Cox T, Roscioli T, David DJ. Anderson PJ, et al. Among authors: roscioli t. Pediatr Neurosurg. 2004 Jul-Aug;40(4):161-4. doi: 10.1159/000081933. Pediatr Neurosurg. 2004. PMID: 15608488

7

Pallister-Hall syndrome: unreported skeletal features of a GLI3 mutation.

Roscioli T, Kennedy D, Cui J, Fonseca B, Watson GF, Pereira J, Xie YG, Mowat D. Roscioli T, et al. Am J Med Genet A. 2005 Aug 1;136A(4):390-4. doi: 10.1002/ajmg.a.30818. Am J Med Genet A. 2005. PMID: 16007608 Review.

8

Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain.

McGillivray G, Savarirayan R, Cox TC, Stojkoski C, McNeil R, Bankier A, Bateman JF, Roscioli T, Gardner RJ, Lamandé SR. McGillivray G, et al. Among authors: roscioli t. J Med Genet. 2005 Aug;42(8):656-62. doi: 10.1136/jmg.2004.027888. J Med Genet. 2005. PMID: 16061565 Free PMC article. No abstract available.

9

Do Craniosynostosis syndrome phenotypes with both FGFR2 and TWIST mutations have a worse clinical outcome?

Anderson PJ, Netherway DJ, Cox TC, Roscioli T, David DJ. Anderson PJ, et al. Among authors: roscioli t. J Craniofac Surg. 2006 Jan;17(1):166-72. doi: 10.1097/01.scs.0000169000.58376.0f. J Craniofac Surg. 2006. PMID: 16432427

10

A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype.

McGaughran J, Sinnott S, Susman R, Buckley MF, Elakis G, Cox T, Roscioli T. McGaughran J, et al. Among authors: roscioli t. Clin Dysmorphol. 2006 Apr;15(2):89-93. doi: 10.1097/01.mcd.0000194407.92676.9d. Clin Dysmorphol. 2006. PMID: 16531735 Review.

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