Search Results - "Migone, N."

Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment by Janssens, K, Vanhoenacker, F, Bonduelle, M, Verbruggen, L, Van Maldergem, L, Ralston, S, Guañabens, N, Migone, N, Wientroub, S, Divizia, M T, Bergmann, C, Bennett, C, Simsek, S, Melançon, S, Cundy, T, Van Hul, W

“…Camurati-Engelmann disease (CED) is a rare autosomal dominant type of bone dysplasia. This review is based on the unpublished and detailed clinical,…”
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A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations by Brussino, A., Vaula, G., Cagnoli, C., Panza, E., Seri, M., Di Gregorio, E., Scappaticci, S., Camanini, S., Daniele, D., Bradac, G. B., Pinessi, L., Cavalieri, S., Grosso, E., Migone, N., Brusco, A.

“…Background and purpose:  Duplications of lamin B1 (LMNB1) at 5q23 are implicated in adult‐onset autosomal dominant leukodystrophy (ADLD) having been described…”
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A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy by Brussino, A, Vaula, G, Cagnoli, C, Mauro, A, Pradotto, L, Daniele, D, Di Gregorio, E, Barberis, M, Arduino, C, Squadrone, S, Abete, M C, Migone, N, Calabrese, O, Brusco, A

“…Background and aim:Duplication of the lamin B1 gene (LMNB1) has recently been described in a rare form of autosomal dominant adult-onset leucoencephalopathy…”
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FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia by BRUSSINO, A, GELLERA, C, MIGONE, N, TARONI, F, BRUSCO, A, SALUTO, A, MARIOTTI, C, ARDUINO, C, CASTELLOTTI, B, CAMERLINGO, M, DE ANGELIS, V, ORSI, L, TOSCA, P

“…In an Italian population of 275 unrelated men affected by adult-onset sporadic progressive cerebellar ataxia, the authors found six patients carrying an FMR1…”
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Genotype, phenotype and hormonal levels correlation in non-classical congenital adrenal hyperplasia by Einaudi, S., Napolitano, E., Restivo, F., Motta, G., Baldi, M., Tuli, G., Grosso, E., Migone, N., Menegatti, E., Manieri, C.

“…Non-classical congenital adrenal hyperplasia (NCAH) is a morbid condition sustained by the reduced function of one of the enzymes involved in the adrenal…”
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Mutations in the lamin B1 gene are not present in multiple sclerosis by Brussino, A., D'Alfonso, S., Cagnoli, C., Di Gregorio, E., Barberis, M., Padovan, S., Vaula, G., Pinessi, L., Squadrone, S., Abete, M. C., Collimedaglia, L., Guerini, F. R., Migone, N., Brusco, A.

“…Background:  Whole gene duplication of the lamin B1 gene (LMNB1), encoding for a protein of the nuclear lamina, causes an adult‐onset autosomal dominant…”
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Mutations in the POLG1 gene are not a relevant cause of cerebellar ataxia in Italy by Cagnoli, C., Brussino, A., Di Gregorio, E., Caroppo, P., Stola, S., Dragone, E., Ferrone, M., Padovan, S., Migone, N., Orsi, L., Brusco, A.

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A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481 insA by Saviozzi, S, Saluto, A, Taylor, A.M.R, Last, J.I.L, Trebini, F, Paradiso, M.C, Grosso, E, Funaro, A, Ponzio, G, Migone, N, Brusco, A

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The polymorphic polyglutamine repeat in the mitochondrial DNA polymerase gamma gene is not associated with oligozoospermia by Brusco, A, Michielotto, C, Gatta, V, Foresta, C, Matullo, G, Zeviani, M, Ferrari, G, Dragone, E, Calabrese, G, Rossato, M, Stuppia, L, Migone, N

“…The POLG1 nuclear gene, encoding for the catalytic subunit of the mitochondrial polymerase gamma, has been reported to play a role in male infertility. In…”
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Molecular analysis of human gamma/delta+ clones from thymus and peripheral blood by Casorati, G, De Libero, G, Lanzavecchia, A, Migone, N

“…We analyzed the V gamma and V delta gene usage in TCR-gamma/delta-bearing T cell clones isolated from human peripheral blood and postnatal thymus using…”
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A large TSC2 and PKD1 gene deletion is associated with renal and extrarenal signs of autosomal dominant polycystic kidney disease by Longa, L, Scolari, F, Brusco, A, Carbonara, C, Polidoro, S, Valzorio, B, Riegler, P, Migone, N, Maiorca, R

“…The renal lesions in tuberous sclerosis complex (TSC) consist in multiple angiomyolipomas, often associated with cysts of variable size. Recently a few TSC…”
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Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13 by Janssens, Katrien, Gershoni-Baruch, Ruth, Van Hul, Els, Brik, Riva, Guañabens, Nuria, Migone, Nicola, Verbruggen, Leon A, Ralston, Stuart H, Bonduelle, Maryse, Van Maldergem, Lionel, Vanhoenacker, Filip, Van Hul, Wim

“…Camurati-Engelmann disease, progressive diaphyseal dysplasia, or diaphyseal dysplasia Camurati-Engelmann is a rare, autosomal dominantly inherited bone…”
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TSC1 and TSC2 deletions differ in size, preference for recombinatorial sequences, and location within the gene by LONGA, Lucia, SALUTO, Alessandro, BRUSCO, Alfredo, POLIDORO, Silvia, PADOVAN, Sergio, ALLAVENA, Anna, CARBONARA, Caterina, GROSSO, Enrico, MIGONE, Nicola

“…Large TSC gene rearrangements are not rare findings in tuberous sclerosis. Interestingly, all deletions, duplications and inversions so far described involve…”
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Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH) by Bonomi, Marco, Vezzoli, Valeria, Krausz, Csilla, Guizzardi, Fabiana, Vezzani, Silvia, Simoni, Manuela, Bassi, Ivan, Duminuco, Paolo, Di Iorgi, Natascia, Giavoli, Claudia, Pizzocaro, Alessandro, Russo, Gianni, Moro, Mirella, Fatti, Letizia, Ferlin, Alberto, Mazzanti, Laura, Zatelli, Maria Chiara, Cannavò, Salvo, Isidori, Andrea M, Pincelli, Angela Ida, Prodam, Flavia, Mancini, Antonio, Limone, Paolo, Tanda, Maria Laura, Gaudino, Rossella, Salerno, Mariacarolina, Francesca, Pregnolato, Maghnie, Mohamad, Maggi, Mario, Persani, Luca

“…Objective Isolated hypogonadotropic hypogonadism (IHH) is a rare disorder with pubertal delay, normal (normoosmic-IHH, nIHH) or defective sense of smell…”
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T-cell receptor Vδ gene usage by tumour reactive γδ T lymphocytes infiltrating human lung cancer by ZOCCHI, M. R, FERRARINI, M, MIGONE, N, CASORATI, G

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The lymphoproliferative disease of granular lymphocytes. A heterogeneous disorder ranging from indolent to aggressive conditions by Semenzato, G, Pandolfi, F, Chisesi, T, De Rossi, G, Pizzolo, G, Zambello, R, Trentin, L, Agostini, C, Dini, E, Vespignani, M

“…A multiparameter analysis, which included the evaluation of clinical features, cell morphology, karyotype, phenotypic and functional immunologic findings, and…”
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The endophilin-CIN85-Cbl complex mediates ligand-dependent downregulation of c-Met by Giordano, Silvia, Petrelli, Annalisa, Gilestro, Giorgio F, Lanzardo, Stefania, Comoglio, Paolo M, Migone, Nicola

“…Ligand-dependent downregulation of tyrosine kinase receptors is a critical step for modulating their activity. Upon ligand binding, hepatocyte growth factor…”
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Mechanisms accounting for lymphocytic alveolitis in hypersensitivity pneumonitis by Trentin, L, Migone, N, Zambello, R, di Celle, PF, Aina, F, Feruglio, C, Bulian, P, Masciarelli, M, Agostini, C, Cipriani, A

“…Hypersensitivity pneumonitis (HP) is a lung disorder characterized by an exaggerated accumulation of CD8+ T lymphocytes in the pulmonary parenchyma. To…”
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Molecular genetic analysis of von Hippel-Lindau disease by denaturing high-performance liquid chromatography by Menegatti, E, Ferrone, M, Gallone, S, Mameli, M, Grosso, E, Migone, N

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Multiple Gene Deletions within the Human Immunoglobulin Heavy-Chain Cluster by Migone, Nicola, Oliviero, Salvatore, De Lange, Gerda, Delacroix, Dominique L., Boschis, Daniele, Altruda, Fiorella, Silengo, Lorenzo, DeMarchi, Mario, Carbonara, Angelo O.

“…Two subjects, of 11,000 healthy individuals screened, were found to be missing three and four immunoglobulin isotypes, respectively (IgA1, IgG2, and IgG4;…”
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