Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Oronzo Scarciolla"'
Autor:
Alberto Fragasso, Clara Mannarella, Angela Ciancio, Oronzo Scarciolla, Nicoletta Nuzzolese, Rocco Clemente, Eustachio Vitullo, Andrea Sacco
Publikováno v:
The Scientific World Journal, Vol 2012 (2012)
Background. Measurement of serum cobalamin (Cbl) levels is the standard investigation for assessing vitamin B12 deficiency. Falsely increased values of Cbl can be caused by alcoholic liver disease. Measurement of total vitamin B12 serum levels might
Externí odkaz:
https://doaj.org/article/88589a2d29e649f3865390eb738b4c60
Autor:
Michele Nardella, Giovanni Quarta, Cristiano Turchetti, Marco Francone, Angelo Peluso, Maria Rosaria Veglio, Oronzo Scarciolla, Carlo Ottonello, Carlo Gaudiano, Angela Ciancio, Alberto Fragasso, Angela Melpignano, Clara Mannarella
Publikováno v:
European Journal of Internal Medicine. 22:62-65
Cardiac complications secondary to iron overload remain a significant matter in patients with transfusion dependent anemias.To evaluate cardiac siderosis, Magnetic resonance imaging T2* (MRI T2*) was performed in 3 cohorts of transfusion dependent pa
Autor:
Marta Pace, Liborio Stuppia, Maria Vittoria De Angelis, Margherita Capasso, Oronzo Scarciolla, Antonio Di Muzio, Giacomo P. Comi, Antonino Uncini
Publikováno v:
Muscle & Nerve. 33:760-765
Persistent elevation of serum creatine kinase (CK) in individuals with normal neurological and laboratory examinations has been called idiopathic hyperCKemia (IH). IH has been reported in rare families and was recently ascribed to caveolin-3 gene mut
Autor:
Liborio Stuppia, Maria Vittoria De Angelis, Valentina Gatta, Chiara Palka, Paolo Guanciali-Franchi, Antonio Di Muzio, Anna Rita Gaspari, Oronzo Scarciolla, Antonino Uncini, Giuseppe Calabrese
Publikováno v:
Human genetics 117 (2005): 92–98.
info:cnr-pdr/source/autori:V. GATTA, O. SCARCIOLLA, A.R. GASPARI, C. PALKA, M.V. DE ANGELIS, A. DI MUZIO, P. GUANCIALI-FRANCHI, G. CALABRESE, A. UNCINI, L. STUPPIA,/titolo:Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA),/doi:/rivista:Human genetics/anno:2005/pagina_da:92/pagina_a:98/intervallo_pagine:92–98/volume:117
info:cnr-pdr/source/autori:V. GATTA, O. SCARCIOLLA, A.R. GASPARI, C. PALKA, M.V. DE ANGELIS, A. DI MUZIO, P. GUANCIALI-FRANCHI, G. CALABRESE, A. UNCINI, L. STUPPIA,/titolo:Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA),/doi:/rivista:Human genetics/anno:2005/pagina_da:92/pagina_a:98/intervallo_pagine:92–98/volume:117
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused in the majority of cases by deletions of the DMD gene and are readily detectable in affected males by multiplex polymerase chain reaction (PCR). However, different appro
Autor:
Beatrice Di Venere, ro Sgambato, Luciana Russo, Rosa Anna Cifarelli, Marina Susi, Aless, Oronzo Scarciolla, Alberto Fragasso
Publikováno v:
Journal of Genetic Syndromes & Gene Therapy.
Colorectal Cancer (CRC) in developed countries is the major causes of cancer death. It may have sporadic or hereditary origin. Familial Adenomatous Polyposis (FAP) is a very frequent hereditary syndromes predisposing to Colorectal Cancer and is chara
Autor:
Angela Ciancio, Nicoletta Nuzzolese, Eustachio Vitullo, Andrea Sacco, Oronzo Scarciolla, Alberto Fragasso, Rocco Clemente, Clara Mannarella
Publikováno v:
The Scientific World Journal
The Scientific World Journal, Vol 2012 (2012)
The Scientific World Journal, Vol 2012 (2012)
Background. Measurement of serum cobalamin (Cbl) levels is the standard investigation for assessing vitamin B12 deficiency. Falsely increased values of Cbl can be caused by alcoholic liver disease. Measurement of total vitamin B12 serum levels might
Autor:
Oronzo Scarciolla, Silvia Morlino, Paola Grammatico, Alberto Fragasso, Assunta Biscaglia, Marco Castori, Liborio Manente
The term “phacomatosis” refers to a growing number of sporadic genetic skin disorders characterized by the combination of two or more different nevi and possibly resulting from non-allelic twin spotting. While phacomatosis pigmentovascularis (PPV
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d3796ff1dec4645b1574417c3f59726
http://hdl.handle.net/11573/439397
http://hdl.handle.net/11573/439397
Autor:
Clara Mannarella, Manlio Ferrarini, Caterina Dininno, Serena Matis, Rosa Anna Cifarelli, Alberto Fragasso, Sonia Fabris, Antonino Neri, Gabriella Ciceri, Fortunato Morabito, Massimo Gentile, Angela Ciancio, Giovanna Cutrona, Anna Grazia Recchia, Oronzo Scarciolla
Publikováno v:
Genes, chromosomescancer. 50(9)
Chronic lymphocytic leukemia (CLL) is a clinically heterogeneous disease characterized by recurrent chromosomal aberrations of prognostic significance. We aimed to evaluate the potential of the multiplex ligation-dependent probe amplification (MLPA)
Autor:
Bruno Dallapiccola, Stefano Valbonesi, Barbara Garavaglia, Giandomenico Palka, Alessandro Ferraris, Antonino Uncini, Enza Maria Valente, Oronzo Scarciolla, Maria Vittoria De Angelis, Liborio Stuppia, Francesco Brancati
Parkinson's disease (PD) is a common disorder caused by degeneration of dopaminergic neurons in the substantia nigra and other brain areas. Mutations in several genes have been associated with both autosomal dominant PD and recessive early onset Park
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8d594c174d0fb94385893686912f09e
http://hdl.handle.net/11570/1710223
http://hdl.handle.net/11570/1710223
Autor:
Francesco Brancati, Gianni Pezzoli, Tamara Ialongo, Riccardo Benti, Anna Capalbo, Angelo Antonini, Oronzo Scarciolla, Bruno Dallapiccola, Enza Maria Valente, Caterina Ceccarini, Roberta Marongiu, Stefano Goldwurm
Publikováno v:
Scopus-Elsevier
Autosomal recessive parkinsonism is a genetic condition closely resembling Parkinson disease, the only distinguishing features being an earlier age at onset and a slower disease progression. Three causative genes have been identified so far. While ex
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28ce0145189489415410f59d5e8bb019
http://hdl.handle.net/11697/122696
http://hdl.handle.net/11697/122696