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Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities.
Published in:
Clinical Genetics, 2012, v. 82, n. 3, p. 223, doi. 10.1111/j.1399-0004.2011.01781.x
By:
- Robinson, DO;
- Lin, F;
- Lyon, M;
- Raponi, M;
- Cross, E;
- White, HE;
- Cox, H;
- Clayton-Smith, J;
- Baralle, D
Publication type:
Article
Corrigendum: A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.
Published in:
2005
By:
- Bond, J.;
- Roberts, E.;
- Springel, K.;
- Lizarraga, S.;
- Scott, S.;
- Higgins, J.;
- Hampshire, D. J.;
- Morrison, E. E.;
- Leal, G. F.;
- Silva, E. O.;
- Costa, S. M. R.;
- Baralle,, D.;
- Raponi, M.;
- Karbani, G.;
- Rashid, Y.;
- Jafri, H.;
- Bennett, C.;
- Corry, P.;
- Walsh, C. A.;
- Woods, C. G.
Publication type:
Correction Notice
Alternative splicing: good and bad effects of translationally silent substitutions.
Published in:
FEBS Journal, 2010, v. 277, n. 4, p. 836, doi. 10.1111/j.1742-4658.2009.07519.x
By:
- Raponi, M.;
- Baralle, D.
Publication type:
Article
An intronic mutation in MLH1 associated with familial colon and breast cancer.
Published in:
Familial Cancer, 2011, v. 10, n. 1, p. 27, doi. 10.1007/s10689-010-9371-4
By:
- Bianchi, F.;
- Raponi, M.;
- Piva, F.;
- Viel, A.;
- Bearzi, I.;
- Galizia, E.;
- Bracci, R.;
- Belvederesi, L.;
- Loretelli, C.;
- Brugiati, C.;
- Corradini, F.;
- Baralle, D.;
- Cellerino, R.
Publication type:
Article
Functional splicing assay shows a pathogenic intronic mutation in neurofibromatosis type 1 ( NF1) due to intronic sequence exonization.
Published in:
Human Mutation, 2006, v. 27, n. 3, p. 294, doi. 10.1002/humu.9412
By:
- Raponi, M.;
- Upadhyaya, M.;
- Baralle, D.
Publication type:
Article
A prospective study of neurofibromatosis type 1 cancer incidence in the UK.
Published in:
2006
By:
- Walker, L.;
- Thompson, D.;
- Easton, D.;
- Ponder, B.;
- Ponder, M.;
- Frayling, I.;
- Baralle, D.
Publication type:
journal article
Novel Tandem Duplication in Exon 1 of the SNURF/SNRPN Gene in a Child with Transient Excessive Eating Behaviour and Weight Gain.
Published in:
Molecular Syndromology, 2012, v. 2, n. 2, p. 76, doi. 10.1159/000335220
By:
- Naik, S.;
- Thomas, N.S.;
- Davies, J.H.;
- Lever, M.;
- Raponi, M.;
- Baralle, D.;
- Temple, I.K.;
- Caliebe, A.
Publication type:
Article

Found: 7

Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities.

Corrigendum: A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.

Alternative splicing: good and bad effects of translationally silent substitutions.

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

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

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

Novel Tandem Duplication in Exon 1 of the SNURF/SNRPN Gene in a Child with Transient Excessive Eating Behaviour and Weight Gain.