http://publicationslist.org/data/francesco.cali/atom.xml Francesco Calihttp://publicationslist.org/francesco.cali$basepathfavicon.icoRecent additions to Francesco Cali's PublicationsList.org pagehttp://publicationslist.org/publications.png2010-03-29T10:51:43Z http://publicationslist.org/francesco.cali/refid2 2010-03-29T10:49:28Z

A consistent finding of many studies describing the spectrum of mutant phenylalanine hydroxylase (PAH) alleles underlying hyperphenylalaninemia is the impossibility of achieving a 100% mutation ascertainment rate using conventional gene-scanning methods. These methods include denaturing gradient gel electrophoresis (DGGE), denaturing high performance liquid chromatography (DHPLC), and direct seque...<br/><br/>Francesco Cali, Giuseppa Ruggeri, Mirella Vinci, Concetta Meli, Carla Carducci, Vincenzo Leuzzi, Simone Pozzessere, Pietro Schinocca, Alda Ragalmuto, Valeria Chiavetta, Salvatore Micciche, Valentinox Romano (2010) <i>Exp Mol Med</i> <i></i> <i></i> 42: 2 81-86<br/>

http://publicationslist.org/francesco.cali/refid5 2010-03-29T10:49:28Z

The presence or absence of genetic heterogeneity in Sicily has long been debated. Through the analysis of the variation of Y-chromosome lineages, using the combination of haplogroups and short tandem repeats from several areas of Sicily, we show that traces of genetic flows occurred in the island, due to ancient Greek colonization and to northern African contributions, are still visible on the bas...<br/><br/>Cornelia Di Gaetano, Nicoletta Cerutti, Francesca Crobu, Carlo Robino, Serena Inturri, Sarah Gino, Simonetta Guarrera, Peter A Underhill, Roy J King, Valentino Romano, Francesco Cali, Mauro Gasparini, Giuseppe Matullo, Alfredo Salerno, Carlo Torre, Alberto Piazza (2009) <i>Eur J Hum Genet</i> <i></i> <i></i> 17: 1 91-99<br/>

http://publicationslist.org/francesco.cali/refid4 2010-03-29T10:49:28Z

To investigate the male genetic legacy of the Arab rule in southern Europe during medieval times, we focused on specific Northwest African haplogroups and identified evolutionary close STR-defined haplotypes in Iberia, Sicily and the Italian peninsula. Our results point to a higher recent Northwest African contribution in Iberia and Sicily in agreement with historical data. southern Italian region...<br/><br/>Cristian Capelli, Valerio Onofri, Francesca Brisighelli, Ilaria Boschi, Francesca Scarnicci, Mara Masullo, Gianmarco Ferri, Sergio Tofanelli, Adriano Tagliabracci, Leonor Gusmao, Antonio Amorim, Francesco Gatto, Mirna Kirin, Davide Merlitti, Maria Brion, Alejandro Blanco Verea, Valentino Romano, Francesco Cali, Vincenzo Pascali (2009) <i>Eur J Hum Genet</i> <i></i> <i></i> 17: 6 848-852<br/>

http://publicationslist.org/francesco.cali/refid3 2010-03-29T10:49:28Z

Michele Salemi, Corrado Romano, Concetta Barone, Francesco Calí, Filippo Caraci, Carmelo Romano, Cataldo Scavuzzo, Francesco Scillato, Maria Grazia Salluzzo, Maria Piccione, Manuela Martines, Giovanni Corsello, Ferdinando Nicoletti, Paolo Bosco (2009) <i>J Genet</i> <i></i> <i></i> 88: 1 93-97<br/>

http://publicationslist.org/francesco.cali/refid6 2010-03-29T10:49:28Z

The incidence of melanoma has dramatically increased in many countries (it is 4.5 cases every 100 000 inhabitants in Sicily) and Xq27 region contains genes important in cancer like the SPANX (sperm protein associated with the nucleus in the X chromosome) gene family. These genes, made up of two exons separated by an intron of about 650 base pair, are expressed in sperm cells and in many tumours, i...<br/><br/>Michele Salemi, Paolo Bosco, Francesco Calì, Aldo E Calogero, Pier Franco Soma, Antonio Galia, Manuela Lanzafame, Carmelo Romano, Enzo Vicari, Giuseppe Grasso, Paolo Siragò, Giancarlo Rappazzo (2008) <i>Melanoma Res</i> <i></i> <i></i> 18: 4 295-299<br/>

http://publicationslist.org/francesco.cali/refid7 2010-03-29T10:49:28Z

The gastrin-releasing peptide receptor (GRPR) was implicated for the first time in the pathogenesis of Autism spectrum disorders (ASD) by Ishikawa-Brush et al. [Ishikawa-Brush et al. (1997): Hum Mol Genet 6: 1241-1250]. Since this original observation, only one association study [Marui et al. (2004): Brain Dev 26: 5-7] has further investigated, though unsuccessfully, the involvement of the GRPR ge...<br/><br/>G Seidita, M Mirisola, R P D'Anna, A Gallo, R T Jensen, S A Mantey, N Gonzalez, M Falco, M Zingale, M Elia, L Cucina, V Chiavetta, V Romano, F Cali (2008) <i>Am J Med Genet B Neuropsychiatr Genet</i> <i></i> <i></i> 147B: 6 807-813<br/>

http://publicationslist.org/francesco.cali/refid10 2010-03-29T10:49:28Z

The 22q11.2 microduplication syndrome is caused by non-allelic homologous recombination mediated by misalignments of low copy repeats located in the region deleted in the DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS). The variable phenotype of such condition, consisting in a combination of dysmorphic facial features, cognitive deficits, velopharyngeal insufficiency, congenital heart def...<br/><br/>A Alberti, C Romano, M Falco, F Calì, P Schinocca, O Galesi, A Spalletta, D Di Benedetto, M Fichera (2007) <i>Clin Genet</i> <i></i> <i></i> 71: 2 177-182<br/>

http://publicationslist.org/francesco.cali/refid9 2010-03-29T10:49:28Z

OBJECTIVES: Mutations in the EFHC1 gene have been reported in six juvenile myoclonic epilepsy (JME) families from Mexico and Belize. In this study, we screened 27 unrelated JME Italian families for mutations in the EFHC1 gene. MATERIALS AND METHODS: Twenty-seven families (86 affected individuals, 52 women) with at least two affected members with JME were selected. DNA was isolated from peripheral ...<br/><br/>Ferdinanda Annesi, Antonio Gambardella, Roberto Michelucci, Amedeo Bianchi, Carla Marini, Maria Paola Canevini, Giuseppe Capovilla, Maurizio Elia, Daniela Buti, Rosanna Chifari, Pasquale Striano, Francesca E Rocca, Barbara Castellotti, Francesco Cali, Angelo Labate, Emilio Lepiane, Dante Besana, Vito Sofia, Giulietta Tabiadon, Gaetano Tortorella, Piernanda Vigliano, Aglaia Vignoli, Francesca Beccaria, Grazia Annesi, Salvatore Striano, Umberto Aguglia, Renzo Guerrini, Aldo Quattrone (2007) <i>Epilepsia</i> <i></i> <i></i> 48: 9 1686-1690<br/>

http://publicationslist.org/francesco.cali/refid8 2010-03-29T10:49:28Z

This is the case of a 16-year-old girl with juvenile myoclonic epilepsy (JME) and maternal family history positive for epilepsy and febrile seizures, presenting ictal and interictal generalised, as well as focal paroxysmal abnormalities over the right central-temporal regions activated during sleep. The brain magnetic resonance image was normal and the seizures responded to therapy with valproate ...<br/><br/>A Bartocci, M Elia, F Calì, C Tiacci, A T Cantisani, G Perticoni (2007) <i>Neurol Sci</i> <i></i> <i></i> 28: 5 276-278<br/>

http://publicationslist.org/francesco.cali/refid11 2010-03-29T10:49:28Z

Within the framework of a FISH screening protocol to detect cryptic subtelomeric rearrangements in autistic disorder (AD), a patient bearing three copies of the subtelomeric portion of the q arm of chromosome 13 has been identified. Beside AD, the patient also has severe mental retardation and displays several dysmorphic features. Further FISH analyses revealed that the trisomy was caused by the t...<br/><br/>Maria Antonietta Di Bella, Francesco Calì, Gregorio Seidita, Mario Mirisola, Angela Ragusa, Alda Ragalmuto, Ornella Galesi, Maurizio Elia, Donatella Greco, Marinella Zingale, Giovanna Gambino, Rosalba P D'Anna, Regina Regan, Maria Carmela Carbone, Alessia Gallo, Valentino Romano (2006) <i>Am J Med Genet B Neuropsychiatr Genet</i> <i></i> <i></i> 141B: 6 584-590<br/>