Roscioli T - Search Results

1

Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders.

Ewans LJ, Schofield D, Shrestha R, Zhu Y, Gayevskiy V, Ying K, Walsh C, Lee E, Kirk EP, Colley A, Ellaway C, Turner A, Mowat D, Worgan L, Freckmann ML, Lipke M, Sachdev R, Miller D, Field M, Dinger ME, Buckley MF, Cowley MJ, Roscioli T. Ewans LJ, et al. Among authors: roscioli t. Genet Med. 2018 Dec;20(12):1564-1574. doi: 10.1038/gim.2018.39. Epub 2018 Mar 29. Genet Med. 2018. PMID: 29595814 Free article.

2

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

3

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.

4

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.

5

Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease.

Roscioli T, Cliffe ST, Bloch DB, Bell CG, Mullan G, Taylor PJ, Sarris M, Wang J, Donald JA, Kirk EP, Ziegler JB, Salzer U, McDonald GB, Wong M, Lindeman R, Buckley MF. Roscioli T, et al. Nat Genet. 2006 Jun;38(6):620-2. doi: 10.1038/ng1780. Epub 2006 Apr 30. Nat Genet. 2006. PMID: 16648851 Free article.

6

The first prenatal diagnosis for veno-occlusive disease and immunodeficiency syndrome, an autosomal recessive condition associated with mutations in SP110.

Cliffe ST, Wong M, Taylor PJ, Ruga E, Wilcken B, Lindeman R, Buckley MF, Roscioli T. Cliffe ST, et al. Among authors: roscioli t. Prenat Diagn. 2007 Jul;27(7):674-6. doi: 10.1002/pd.1759. Prenat Diagn. 2007. PMID: 17510920

7

Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation.

Zankl A, Elakis G, Susman RD, Inglis G, Gardener G, Buckley MF, Roscioli T. Zankl A, et al. Among authors: roscioli t. Am J Med Genet A. 2008 Jan 15;146A(2):212-8. doi: 10.1002/ajmg.a.32085. Am J Med Genet A. 2008. PMID: 18076102

8

Pfeiffer syndrome with neonatal death secondary to tracheal obstruction owing to the FGFR2 Glu565Ala mutation.

Freeman L, Elakis G, Watson G, Mullan GL, Taylor PJ, Anderson P, Ogle R, Buckley MF, Roscioli T. Freeman L, et al. Among authors: roscioli t. Clin Dysmorphol. 2008 Jul;17(3):223-224. doi: 10.1097/MCD.0b013e3282fdcc86. Clin Dysmorphol. 2008. PMID: 18541976 No abstract available.

9

SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.

Cliffe ST, Kramer JM, Hussain K, Robben JH, de Jong EK, de Brouwer AP, Nibbeling E, Kamsteeg EJ, Wong M, Prendiville J, James C, Padidela R, Becknell C, van Bokhoven H, Deen PM, Hennekam RC, Lindeman R, Schenck A, Roscioli T, Buckley MF. Cliffe ST, et al. Among authors: roscioli t. Hum Mol Genet. 2009 Jun 15;18(12):2257-65. doi: 10.1093/hmg/ddp161. Epub 2009 Mar 31. Hum Mol Genet. 2009. PMID: 19336477

10

Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study.

James PA, Culling B, Mullan G, Jenkins M, Elakis G, Turner AM, Mowat DM, Wilson M, Anderson P, Savarirayan R, Cliffe ST, Caramins M, Buckley MF, Tucker K, Roscioli T. James PA, et al. Among authors: roscioli t. Genes Chromosomes Cancer. 2009 Jul;48(7):533-8. doi: 10.1002/gcc.20661. Genes Chromosomes Cancer. 2009. PMID: 19373776

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