Search Results - "Baralle, D"

Splicing in action: assessing disease causing sequence changes by Baralle, D, Baralle, M

“…Variations in new splicing regulatory elements are difficult to identify exclusively by sequence inspection and may result in deleterious effects on precursor…”
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Alternative splicing: good and bad effects of translationally silent substitutions by Raponi, M, Baralle, D

“…Nucleotide variations that do not alter the protein-coding sequence have been routinely considered as neutral. In light of the developments we have seen over…”
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A prospective study of neurofibromatosis type 1 cancer incidence in the UK by Walker, L, Thompson, D, Easton, D, Ponder, B, Ponder, M, Frayling, I, Baralle, D

“…Neurofibromatosis type 1 (NF1) is an autosomal dominant condition affecting around one in 3000 live births. The manifestations of this condition are extremely…”
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Human NDE1 splicing and mammalian brain development by Mosca, S., Raponi, M., Meneghello, A., Buratti, E., Woods, C. G., Baralle, D.

“…Exploring genetic and molecular differences between humans and other close species may be the key to explain the uniqueness of our brain and the selective…”
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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 by Upadhyaya, M., Huson, S.M., Davies, M., Thomas, N., Chuzhanova, N., Giovannini, S., Evans, D.G., Howard, E., Kerr, B., Griffiths, S., Consoli, C., Side, L., Adams, D., Pierpont, M., Hachen, R., Barnicoat, A., Li, H., Wallace, P., Van Biervliet, J.P., Stevenson, D., Viskochil, D., Baralle, D., Haan, E., Riccardi, V., Turnpenny, P., Lazaro, C., Messiaen, L.

“…Neurofibromatosis type 1 (NF1) is characterized by café-au-lait spots, skinfold freckling, and cutaneous neurofibromas. No obvious relationships between small…”
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Functional splicing assay shows a pathogenic intronic mutation in neurofibromatosis type 1 (NF1) due to intronic sequence exonization by Raponi, M., Upadhyaya, M., Baralle, D.

“…Genomic variations with no apparent effect (“neutral polymorphisms”) may have a significant effect on splicing. The effect of this type of mutation is…”
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Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11–17 distinct from the GAP related domain by Mattocks, C, Baralle, D, Tarpey, P, ffrench-Constant, C, Bobrow, M, Whittaker, J

“…In keeping with this, RasGTP levels may be elevated in human NF1 peripheral nerve tumours in which neurofibromin is reduced or absent. 18 This region of the…”
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Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities by Robinson, DO, Lin, F, Lyon, M, Raponi, M, Cross, E, White, HE, Cox, H, Clayton-Smith, J, Baralle, D

“…Robinson DO, Lin F, Lyon M, Raponi M, Cross E, White HE, Cox H, Clayton‐Smith J, Baralle D. Systematic screening of FBN1 gene unclassified missense variants…”
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Identification of a mutation that perturbs NF1 gene splicing using genomic DNA samples and a minigene assay by Baralle, M, Baralle, D, Conti, L. De, Mattocks, C, Whittaker, J, Knezevich, A, Ffrench-Constant, C, Baralle, F.E

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

“…Single base substitutions can lead to missense mutations, silent mutations or intronic mutations, whose significance is uncertain. Aberrant splicing can occur…”
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Novel Tandem Duplication in Exon 1 of the SNURF/SNRPN Gene in a Child with Transient Excessive Eating Behaviour and Weight Gain by Naik, S., Thomas, N.S., Davies, J.H., Lever, M., Raponi, M., Baralle, D., Temple, I.K., Caliebe, A.

“…A deletion in 15q11.2 involving the SNURF/SNRPN gene is the typical finding in patients with Prader-Willi syndrome. Apart from translocations disrupting this…”
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Myoclonic movement disorder associated with microdeletion of chromosome 22q11 by Baralle, D, Trump, D, ffrench-Constant, C, Dick, D J

“…The better known clinical features of this disorder are cardiac abnormalities, short stature, palatal abnormalities or velopharangeal insufficiency, renal…”
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Re: Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1 (Messiaen and Wimmer) by Whittaker, J L, Mattocks, C, Baralle, D, Tarpey, P, ffrench-Constant, C, Bobrow, M

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Re: Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1 (Messiaen and Wimmer) by Whittaker, J L, Mattocks, C, Baralle, D, Tarpey, P, ffrench-Constant, C, Bobrow, M

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Large-scale discovery of novel genetic causes of developmental disorders by van Kogelenberg, M, Goudie, D, Gray, E, Harrison, L, Hawkins, R, Henderson, A, Holder, S, Irving, M, Bayzetinova, T, Jones, D, Kini, U, Kinning, E, Kirby, G, Kirk, C, Kumar, D, Lachlan, K, Lees, M, Lim, D, Coomber, E L, Lowther, G, Lynch, S A, Maher, E, Mansour, S, Maye, U, McCann, E, McMullan, D J, McNerlan, S, Metcalfe, K, Mohammed, S, Jones, P, Moore, D, Morton, J, Mugalaasi, H, Newbury-Ecob, R, Ogilvie, C, Park, S, Parker, M J, Patel, C, Porteous, D, Mason, L E, Ragge, N, Rankin, J, Raymond, L, Rosser, E, Miller, R, Sarkar, A, Scott, C, Scott, R, Selby, A, Shannon, N, Simpkin, D, Singzon, R, Skitt, Z, Rajan, D, Splitt, M, Stewart, F, Swaminathan, G J, Tatton-Brown, K, Temple, I K, Torokwa, A, Turner, C, Turnpenny, P, Tysoe, C, Vandersteen, A, Walker, D, Ahmed, M, Widaa, S, Williams, N, Wragg, C, Yau, M, FitzPatrick, D R, Anjum, U, Balasubramanian, M, Banerjee, R, Baralle, D, Baty, D, Bennett, C, Berg, J, Bevan, A P, Bourdon, L, Brady, A, Burton, J, Chandler, K, Cooper, N, Cross, G, D'Alessandro, M, Dabir, T, Davidson, R, Davies, S, Dean, J, Deshpande, C, Donnelly, C, Douglas, A, Eason, J, Edkins, S, Foulds, N, Fryer, A, Gardiner, C, Pereira, S L Gomes, Goodship, J

“…Up to half of children with severe developmental disorders of probable genetic origin remain without a genetic diagnosis; here, in a systematic and nationwide…”
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Linkage analysis of idiopathic generalized epilepsy (IGE) and marker loci on chromosome 6p in families of patients with juvenile myoclonic epilepsy : no evidence for an epilepsy locus in the HLA region by WHITEHOUSE, W. P, REES, M, CURTIS, D, SUNDQVIST, A, PARKER, K, CHUNG, E, BARALLE, D, GARDINER, R. M

“…Evidence for a locus (EJM1) in the HLA region of chromosome 6p predisposing to idiopathic generalized epilepsy (IGE) in the families of patients with juvenile…”
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Benign familial infantile convulsions: report of a UK family and confirmation of genetic heterogeneity by BARALLE, D, DEARLOVE, A M, BEACH, R, FFRENCH-CONSTANT, C, REID, E

“…To date, genes for four autosomal dominant epileptic diseases have been mapped or cloned: benign familial neonatal convulsions at chromosomes 20q13 (EBN1) and…”
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Unraveling GRIA1 neurodevelopmental disorders: Lessons learned from the p.(Ala636Thr) variant by Tvergaard, Nicolai Kohring, Tkemaladze, Tinatin, Stödberg, Tommy, Kvarnung, Malin, Tatton‐Brown, Katrina, Baralle, Diana, Tümer, Zeynep, Bayat, Allan

“…Ionotropic glutamate receptors (iGluRs), specifically α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazole propionic acid receptors (AMPARs), play a crucial role in…”
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Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes by Mefford, Heather C, Sharp, Andrew J, Baker, Carl, Itsara, Andy, Jiang, Zhaoshi, Buysse, Karen, Huang, Shuwen, Maloney, Viv K, Crolla, John A, Baralle, Diana, Collins, Amanda, Mercer, Catherine, Norga, Koen, de Ravel, Thomy, Devriendt, Koen, Bongers, Ernie M.H.F, de Leeuw, Nicole, Reardon, William, Gimelli, Giorgio, Gimelli, Stefania, Bena, Frederique, Hennekam, Raoul C, Male, Alison, Gaunt, Lorraine, Clayton-Smith, Jill, Simonic, Ingrid, Park, Soo Mi, Mehta, Sarju G, Nik-Zainal, Serena, Woods, C. Geoffrey, Firth, Helen V, Parkin, Georgina, Fichera, Marco, Reitano, Santina, Giudice, Mariangela Lo, Li, Kelly E, Casuga, Iris, Broomer, Adam, Conrad, Bernard, Schwerzmann, Markus, Räber, Lorenz, Gallati, Sabina, Striano, Pasquale, Coppola, Antonietta, Tolmie, John L, Tobias, Edward S, Lilley, Chris, Armengol, Lluis, Spysschaert, Yves, Verloo, Patrick, De Coene, Anja, Goossens, Linde, Mortier, Geert, Speleman, Frank, van Binsbergen, Ellen, Nelen, Marcel R, Hochstenbach, Ron, Poot, Martin, Gallagher, Louise, Gill, Michael, McClellan, Jon, King, Mary-Claire, Regan, Regina, Skinner, Cindy, Stevenson, Roger E, Antonarakis, Stylianos E, Chen, Caifu, Estivill, Xavier, Menten, Björn, Gribble, Susan, Schwartz, Charles E, Schwartz, Stuart, Sutcliffe, James S, Walsh, Tom, Knight, Samantha J.L, Sebat, Jonathan, Romano, Corrado, Veltman, Joris A, de Vries, Bert B.A, Vermeesch, Joris R, Barber, John C.K, Willatt, Lionel, Tassabehji, May, Eichler, Evan E

“…This study shows an association between a broad range of phenotypes and either deletion or duplication of a genomic segment at chromosome 1q21.1, suggesting a…”
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A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies by Nixon, Kevin C.J., Rousseau, Justine, Stone, Max H., Sarikahya, Mohammed, Ehresmann, Sophie, Mizuno, Seiji, Matsumoto, Naomichi, Miyake, Noriko, Baralle, Diana, McKee, Shane, Izumi, Kosuke, Ritter, Alyssa L., Heide, Solveig, Héron, Delphine, Depienne, Christel, Titheradge, Hannah, Kramer, Jamie M., Campeau, Philippe M.

“…Mutations in several genes encoding components of the SWI/SNF chromatin remodeling complex cause neurodevelopmental disorders (NDDs). Here, we report on five…”
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