Diana Baralle - Dissemin

Papers authored by Diana Baralle

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2012 Emanuele Buratti, Diana Baralle

Exon skipping mutations in neurofibromatosis

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Marco Baralle, Diana Baralle

Splicing Mechanisms and Mutations in the NF1 Gene

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2011 Katrina Tatton-Brown, Silvana del Vecchio Duarte, Sandra Hanks, Elise Ruark, Anna Zachariou, Silvana Del Vecchio Duarte, Emma Ramsay, Katie Snape, Anne Murray, Elizabeth R. Perdeaux, Sheila Seal, Chey Loveday, Carol Clericuzio, Frances Flinter, Alex Magee and 16 other authors

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

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Do Robinson, F. Lin, Matthew Lyon, Michela Raponi, Esther Cross, He White, Helen Cox, Jill Clayton-Smith, Diana Baralle

Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities

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James Jj Dowling, Suzanne Lillis, Kimberley Amburgey, Haiyan Zhou, Safa Al-Sarraj, Stefan J. A. Buk, Elizabeth Wraige, Gabby Chow, Stephen Abbs, Steven Leber, Katherine Lachlan, Diana Baralle

, Alexandra Taylor, Caroline Sewry, Francesco Muntoni and 1 other authors

King–Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene

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Moira Blyth, Diana Baralle

Anophthalmia in fronto–facial–nasal dysplasia

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2010 F. Bianchi, M. Raponi, F. Piva, A. Viel, I. Bearzi, E. Galizia, R. Bracci, L. Belvederesi, C. Loretelli, C. Brugiati, F. Corradini, D. Baralle

, R. Cellerino

An intronic mutation in MLH1 associated with familial colon and breast cancer

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Emanuele Buratti, Diana Baralle

Novel roles of U1 snRNP in alternative splicing regulation

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Moira Blyth, Michela Raponi, Rebecca Treacy, F. Lucy Raymond, F. L. Raymond, John R. W. Yates, Diana Baralle

Expanding the tuberous sclerosis phenotype: mild disease caused by a TSC1 splicing mutation

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Mario Tosi, Stefan Stamm, Diana Baralle

RNA splicing meets genetic testing: detection and interpretation of splicing defects in genetic diseases

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Diana Baralle

Novel aspects of alternative splicing

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2009 Emma Edwards, Catharina Yearwood, Julie Sillibourne, Diana Baralle

, Diana Eccles

Identification of a de novo BRCA1 mutation in a woman with early onset bilateral breast cancer.

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2008 Michela Raponi, Diana Baralle

Can donor splice site recognition occur without the involvement of U1 snRNP?

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H. C. Mefford, Heather C. Mefford, L. B. A. de Vries, Andrew J. Sharp, Carl Baker, Andy Itsara, Zhaoshi Jiang, E. Van Binsbergen, Karen Buysse, Shuwen Huang, Viv K. Maloney, John A. Crolla, Diana Baralle

, Amanda Collins, Catherine Mercer and 83 other authors

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

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2007 Meena Upadhyaya, M. Upadyaya, Susan M. Huson, Mark Davies, Nicholas Stuart Tudor Thomas, Nadia Chuzhanova

, S. Giovannini, D. G. Evans, E. Howard, B. Kerr, S. Griffiths, Claudia Consoli, L. Side, D. Adams, M. Pierpont and 17 other authors

An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation

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2006 Walker Ltd, L. Walker, D. Thompson, D. Easton, B. Ponder, M. Ponder, I. Frayling

, D. Baralle

A prospective study of neurofibromatosis type 1 cancer incidence in the UK

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M. Raponi, M. Upadhyaya, D. Baralle

Functional splicing assay shows a pathogenic intronic mutation in neurofibromatosis type 1 (NF1) due to intronic sequence exonization

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2005 D. Baralle

, M. Baralle

Splicing in action: assessing disease causing sequence changes

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J. L. Whittaker, C. ffrench-Constant, C. Mattocks, Diana Baralle

, P. Tarpey, M. Bobrow

Re: Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1 (Messiaen and Wimmer)

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This paper was not found in any repository; the policy of its publisher is unknown or unclear.

J. Bond, E. Roberts, K. Springel, S. Lizarraga, S. Scott, J. Higgins, D. J. Hampshire, E. E. Morrison, G. F. Leal, E. O. Silva, S. M. R. Costa, D. Baralle

, M. Raponi, G. Karbani, Y. Rashid and 5 other authors

Erratum: A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size (Nature Genetics (2005) 37 (353-355))

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Papers authored by Diana Baralle