Search Results - "Dagna Bricarelli, F."

Inclusion body myopathy, Paget's disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling by Viassolo, V, Previtali, SC, Schiatti, E, Magnani, G, Minetti, C, Zara, F, Grasso, M, Dagna-Bricarelli, F, Di Maria, E

“…The acronym IBMPFD denotes a syndrome including inclusion body myopathy, Paget’s disease of the bone (PDB) and frontotemporal dementia (FTD) as cardinal…”
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Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX): report of the first prenatal mutation testing by Perroni, L., Faravelli, F., Cusano, R., Forzano, F., De Cassan, P., Baldo, C., Bricarelli, F. Dagna

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Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey by Sensi, A., Cavani, S., Villa, N., Pomponi, M. G., Fogli, A., Gualandi, F., Grasso, M., Sala, E., Pietrobono, R., Baldinotti, F., Savin, E., Ferlini, A., Cecconi, M., Rossi, S., Gallone, S., Bellini, C., Neri, G., Martinoli, E., Simi, P., Dalprà, L., Genuardi, M., Dagna-Bricarelli, F., Calzolari, E.

“…Objectives The risk of uniparental disomy (UPD) occurrence associated with the prenatal finding of balanced nonhomologous Robertsonian translocations (NHRTs)…”
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Trisomic dose of several chromosome 21 genes perturbs haematopoietic stem and progenitor cell differentiation in Down's syndrome by De Vita, S, Canzonetta, C, Mulligan, C, Delom, F, Groet, J, Baldo, C, Vanes, L, Dagna-Bricarelli, F, Hoischen, A, Veltman, J, Fisher, E M C, Tybulewicz, V L J, Nizetic, D

“…Children with Down's syndrome (DS) have 20–50-fold higher incidence of all leukaemias (lymphoid and myeloid), for reasons not understood. As incidence of many…”
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Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy by NABBOUT, R, GENNARO, E, FONTANA, E, GAGGERO, R, GRANATA, T, GUERRINI, R, LOI, M, LA SELVA, L, LISPI, M. L, MATRICARDI, A, ROMEO, A, TZOLAS, V, DALLA BERNARDINA, B, VALSERIATI, D, VEGGIOTTI, P, VIGEVANO, F, VALLEE, L, DAGNA BRICARELLI, F, BIANCHI, A, ZARA, F, DULAC, O, MADIA, F, BERTINI, E, CAPOVILLA, G, CHIRON, C, CRISTOFORI, G, ELIA, M

“…SCN1A mutations were recently reported in several patients with severe myoclonic epilepsy in infancy (SMEI). The authors analyzed SCN1A mutations in 93…”
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Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosis by Pastorino, L., Cusano, R., Baldo, C., Forzano, F., Nasti, S., Di Rocco, M., Carta, M., Bricarelli, F. Dagna, Faravelli, F., Scarrà, G. Bianchi

“…Background  Diagnosis of Nevoid Basal Cell Carcinoma Syndrome (NBCCS) in infants may pose significant challenges to clinicians owing to its variable…”
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The Italian external quality assessment scheme in classical cytogenetics: four years of activity by Floridia, G, Falbo, V, Censi, F, Tosto, F, Salvatore, M, Baroncini, A, Battaglia, P, Conti, A, Donti, E, La Starza, R, Nitsch, L, Pierluigi, M, Piombo, G, Susca, F, Mancini, M, Mecucci, C, Calzolari, E, Dagna Bricarelli, F, Guanti, G, Taruscio, D

“…The Italian external quality assessment scheme in classical cytogenetics was started in 2001 as an activity funded by the National Health System and…”
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Plasma levels of amyloid β-protein 42 are increased in women with mild cognitive impairment by ASSINI, A, CAMMARATA, S, BALDO, C, ARGUSTI, A, ODETTI, P, PICCINI, A, TABATON, M, VITALI, A, COLUCCI, M, GILIBERTO, L, BORGHI, R, INGLESE, M. L, VOLPE, S, RATTO, S, DAGNA-BRICARELLI, F

“…Accumulation in the brain of small aggregates of amyloid beta-protein 42 (Abeta42) is the major pathogenic event of Alzheimer disease (AD). In familial…”
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Cryptic 1p36.3/6q25.2 translocation in three generations ascertained through a foetus with IUGR and cerebral malformations by Cavani, S., Perfumo, C., Faravelli, F., Malacarne, M., Sogliani, M., Piombo, G., Zerega, G., Zucca, M., Dagna Bricarelli, F., Pierluigi, M.

“…Here we describe a foetus with intrauterine growth retardation (IUGR), cerebral malformations and a 46,XY,der(1),t(1;6)(p36.3;q25.2) karyotype owing to a…”
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Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation by Mainardi, P Cerruti, Perfumo, C, Calì, A, Coucourde, G, Pastore, G, Cavani, S, Zara, F, Overhauser, J, Pierluigi, M, Bricarelli, F Dagna

“…The majority of deletions of the short arm of chromosome 5 are associated with cri du chat syndrome (CdCS) and patients show phenotypic and cytogenetic…”
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Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia by CARBONE, I, BRUNO, C, LISANTI, M. P, MINETTI, C, SOTGIA, F, BADO, M, BRODA, P, MASETTI, E, PANELLA, A, ZARA, F, DAGNA BRICARELLI, F, CORDONE, G

“…Mutations in the caveolin-3 (CAV3) gene are associated with autosomal dominant limb-girdle muscular dystrophy (LGMD1C). The authors report a novel sporadic…”
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Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth by Cecconi, M., Forzano, F., Milani, D., Cavani, S., Baldo, C., Selicorni, A., Pantaleoni, C., Silengo, M., Ferrero, G.B., Scarano, G., Della Monica, M., Fischetto, R., Grammatico, P., Majore, S., Zampino, G., Memo, L., Cordisco, E. Lucci, Neri, G., Pierluigi, M., Bricarelli, F. Dagna, Grasso, M., Faravelli, Francesca

“…Sotos syndrome is characterized by pre‐ and post‐natal overgrowth, typical craniofacial features, advanced bone age, and developmental delay. Some degree of…”
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An improved method for the detection of Down's syndrome aneuploidy in uncultured amniocytes by Pierluigi, M, Perfumo, C, Cavani, S, Lehrach, H, Nizetic, D, Dagna Bricarelli, F D

“…We report a modified method for the rapid detection of aneuploidies directly on human uncultured amniocytes that simplifies and shortens the entire…”
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A novel presenilin 1 L166H mutation in a pseudo-sporadic case of early-onset Alzheimer's disease by Pantieri, R, Pardini, M, Cecconi, M, Dagna-Bricarelli, F, Vitali, A, Piccini, A, Russo, R, Borghi, R, Tabaton, M

“…We report a 44-year-old woman presenting at 33 years with memory loss, followed by progressive dementia. Her family history was negative for dominant genetic…”
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Psychomotor development in Cri du Chat Syndrome by Cerruti Mainardi, Paola, Guala, Andrea, Pastore, Guido, Pozzo, Gloria, Dagna Bricarelli, Franca, Pierluigi, Mauro

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Ataxia, ocular telangiectasia, chromosome instability, and Langerhans cell histiocytosis in a patient with an unknown breakage syndrome by Di Rocco, M, Arslanian, A, Romanengo, M, Dagna-Bricarelli, F, Borrone, C

“…An 8 year old boy who had Langerhans cell histiocytosis when he was 15 months old showed psychomotor regression from the age of 2 years. Microcephaly, severe…”
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Maternal uniparental disomy for chromosome 14 by Coviello, D A, Panucci, E, Mantero, M M, Perfumo, C, Guelfi, M, Borrone, C, Dagna Bricarelli, F

“…A girl carrying a de novo balanced 13-14 robertsonian translocation showed a clinical phenotype with severe hypotonia, hyperextensible joints, frontal bossing,…”
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Fragile X founder chromosomes in Italy: A few initial events and possible explanation for their heterogeneity by Chiurazzi, P., Genuardi, M., Kozak, L., Giovannucci-Uzielli, M. L., Bussani, C., Dagna-Bricarelli, F., Grasso, M., Perroni, L., Sebastio, G., Sperandeo, M. P., Oostra, B. A., Neri, G.

“…A total of 137 fragile X and 235 control chromosomes from various regions of Italy were haplotyped by analyzing two neighbouring marker microsatellites,…”
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Molecular and cytogenetic analysis of the fragile X syndrome in a series of 453 mentally retarded subjects: A study of 87 families by Perroni, L., Grasso, M., Argusti, A., Nigro, C. Lo, Croci, G. F., Zelante, L., Garani, G. P., Bricarelli, F. Dagna

“…We report on a series of 453 mentally retarded subjects investigated for fragile X syndrome from 1982 to July 1995. The 22% rate of efficiency of FRAX…”
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Acquired mutations in GATA1 in neonates with Down's syndrome with transient myeloid disorder by Groet, Jürgen, McElwaine, Suzanne, Spinelli, Monica, Rinaldi, Andrea, Burtscher, Ingo, Mulligan, Claire, Mensah, Afua, Cavani, Simona, Dagna-Bricarelli, Franca, Basso, Giuseppe, Cotter, Finbarr E, Nizetic, Dean

“…Transient myeloid disorder is a unique self-regressing neoplasia specific to Down's syndrome. The transcription factor GATA1 is needed for normal growth and…”
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