Affiliation: Imperial College School of Medicine
- X-linked dilated cardiomyopathy and the dystrophin geneA Ferlini
Department of Paediatrics and Neonatal Medicine, Imperial College of Medicine, London, UK
Neuromuscul Disord 9:339-46. 1999..The aim of this review is to attempt a genotype-phenotype correlation and speculate on common pathogenic mechanisms underlying this disease...
- The 5' region of intron 11 of the dystrophin gene contains target sequences for mobile elements and three overlapping ORFsA Ferlini
Department of Paediatrics and Neonatal Medicine, Imperial College of Science, Technology and Medicine, London, United Kingdom
Biochem Biophys Res Commun 242:401-6. 1998..We hypothesise that the 5' region of the dystrophin intron 11, containing common target areas for the insertion of mobile elements, may have a role in the rearrangement of this novel Alu-like sequence...
- A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathyA Ferlini
Department of Paediatrics and Neonatal Medicine, Imperial College School of Medicine, London W12 ONN, United Kingdom
Am J Hum Genet 63:436-46. 1998..Our report underlines the complexity of the pathogenic mechanism leading to X-linked dilated cardiomyopathy but suggests that differences in tissue-specific expression of dystrophin mutations may be a common feature in this condition...
- Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathyF Muntoni
Department of Paediatrics and Neonatal Medicine, Hammersmith Hospital, London, UK
Heart 78:608-12. 1997..This study, together with previous reports, suggests that some patients with DC have a dystrophinopathy that can be diagnosed using a combination of biochemical and genetic analyses...
- Prenatal diagnosis in merosin-deficient congenital muscular dystrophyI Naom
Department of Paediatrics, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK
Neuromuscul Disord 7:176-9. 1997..The results are easy to interpret in families with total absence of the protein, while caution is required when dealing with families where partial expression occurs...
- Expression of laminin chains in skin in merosin-deficient congenital muscular dystrophyC A Sewry
Department of Paediatrics and Neonatal Medicine, Royal Postgraduate Medical School, London, UK
Neuropediatrics 28:217-22. 1997..In addition, we show that there is a tissue-specific difference in the developmental expression of the laminin alpha 2 protein...
- Multiple exon skipping and RNA circularisation contribute to the severe phenotypic expression of exon 5 dystrophin deletionF Gualandi
Sezione di Genetica Medica, Dipartimento di Medicina Sperimentale e Diagnostica, , Italy
J Med Genet 40:e100. 2003
- Dystrophin muscle enhancer 1 is implicated in the activation of non-muscle isoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathyC Bastianutto
Ontario Cancer Institute, Princess Margaret Hospital, University Health Network and Department of Medical Biophysics, University of Toronto, 610 University Avenue, Toronto, Ontario, M5G 2M9, Canada
Hum Mol Genet 10:2627-35. 2001..These results point to a role for DME1 in the induction of B and CP isoform expression in the skeletal muscle of XLDC patients defective for M isoform expression...
- Mutation and transcription analysis of transthyretin gene in Italian families with hereditary amyloidosis: a putative novel hot spot' in codon 47A Ferlini
Istituto di Genetica Medica, Universita di Ferrara, Italy
Clin Genet 57:284-90. 2000..We performed transcription analysis on two livers obtained from transplanted patients carrying the Ala47 mutation. These livers showed a normally spliced message, indicating that this mutation does not affect splicing...
- Mutation analysis of the MECP2 gene in British and Italian Rett syndrome femalesM Vacca
International Institute of Genetics and Biophysics, CNR, Naples, Italy
J Mol Med (Berl) 78:648-55. 2001....
- Intronic breakpoint definition and transcription analysis in DMD/BMD patients with deletion/duplication at the 5' mutation hot spot of the dystrophin geneF Gualandi
Dipartimento di Medicina Sperimentale e Diagnostica-Sezione di Genetica Medica, , Via Fossato di Mortara, 74-44100 Ferrara, Italy
Gene 370:26-33. 2006..In conclusion, we suggest that multiple mechanisms may have a role in modulating the outcome of 5' dystrophin mutations, including recoding mechanisms and unusual splicing choices...
- Early onset aggressive hereditary amyloidosis: report of an Italian family with TTR Arg47 mutationF Salvi
Department of Neurological Sciences, University of Bologna at Bellaria Hospital, Bologna, Italy
Neurol Sci 26:140-2. 2005..Patients with Arg47 or other aggressive TTR amyloidoses should be considered high priority patients for orthotopic liver transplantation...
- Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal surveyA Sensi
Genetica Medica Università degli Studi di Ferrara xsArcispedale Sant Anna, Ferrara, Italy
Prenat Diagn 24:647-52. 2004..The aim of the study was to verify the estimate of the general risk, to get narrower confidence intervals by cumulating the data and to obtain risk estimates for specific translocation types...
- Atypical familial motor neuropathy in patients with mutant TTR Ile68LeuF Salvi
Dipartimento di Scienze Neurologiche, Ospedale Bellaria, Via Altura 3, 40139 Bologna, Italy
Amyloid 10:185-9. 2003..Second, to stress the possible occurrence of amyloid within the spinal canal as the potential pathogenesis and responsible for motor presentation...
- MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved regionM Vacca
International Institute of Genetics and Biophysics, CNR, Via Marconi 10, 80125, Naples, Italy
Brain Dev 23:S246-50. 2001..Bioinformatic analysis of the mutations, taking advantage of structural and evolutionary data, leads us to postulate the existence of a new functional domain in the MeCP2 protein, conserved among brain-specific regulatory factors...
- Two transthyretin variants (TTR Ala-49 and TTR Gln-89) in two Sicilian kindreds with hereditary amyloidosisM R Almeida
Centro de Estudos de Paramiloidose, Instituto de Ciencias Biomedicas, Porto, Portugal
Hum Mutat 1:211-5. 1992..The basic variant has a glutamine residue replacing glutamate at position 89 (TTR Gln-89)...
- Autosomal recessive myosclerosis myopathy is a collagen VI disorderL Merlini
Department of Experimental and Diagnostic Medicine, University of Ferrara, Italy
Neurology 71:1245-53. 2008..To determine the clinical and molecular features of a new phenotype related to collagen VI myopathies...