Search Results - "Salluzzo, Roberto"

Interpreting Genetic Variants: Hints from a Family Cluster of Parkinson's Disease by Cali, Francesco, Cantone, Mariagiovanna, Cosentino, Filomena Irene Ilaria, Lanza, Giuseppe, Ruggeri, Giuseppa, Chiavetta, Valeria, Salluzzo, Roberto, Ragalmuto, Alda, Vinci, Mirella, Ferri, Raffaele

“…Technological innovation related to the advent and development of the Next-Generation Sequencing (NGS) has provided significant advances in the diagnosis of…”
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LDOC1 expression in fibroblasts of patients with Down syndrome by Salemi, Michele, Barone, Concetta, Romano, Carmelo, Caniglia, Salvatore, Ragalmuto, Alda, Scillato, Francesco, Salluzzo, Maria Grazia, Scavuzzo, Cataldo, Vinci, Mirella, Salluzzo, Roberto, Romano, Corrado, Bosco, Paolo

“…Down syndrome (DS) is characterised by intellectual disability and is caused by trisomy 21. Apoptosis is a programmed cell death process and is involved in…”
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Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform by Calì, Francesco, Chiavetta, Valeria, Ruggeri, Giuseppa, Piccione, Maria, Selicorni, Angelo, Palazzo, Daniela, Bonsignore, Maria, Cereda, Anna, Elia, Maurizio, Failla, Pinella, Figura, Maria Grazia, Fiumara, Agata, Maitz, Silvia, Luana Mandarà, Giuseppa Maria, Mattina, Teresa, Ragalmuto, Alda, Romano, Corrado, Ruggieri, Martino, Salluzzo, Roberto, Saporoso, Antonino, Schepis, Carmelo, Sorge, Giovanni, Spanò, Maria, Tortorella, Gaetano, Romano, Valentino

“…Abstract Neurofibromatosis type 1 (NF1) is caused by mutations of the NF1 gene and is one of the most common human autosomal dominant disorders. The patient…”
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Pericentrin expression in Down’s syndrome by Salemi, Michele, Barone, Concetta, Romano, Carmelo, Salluzzo, Roberto, Caraci, Filippo, Cantarella, Rita Anna, Salluzzo, Maria Grazia, Drago, Filippo, Romano, Corrado, Bosco, Paolo

“…Down’s syndrome (DS) is the most frequent genetic cause of intellectual disability and is a chromosomal abnormality of chromosome 21 trisomy. The pericentrin…”
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Gene expression profiling and qRT-PCR expression of RRP1B, PCNT, KIF21A and ADRB2 in leucocytes of Down’s syndrome subjects by SALEMI, MICHELE, BARONE, CONCETTA, ROMANO, CORRADO, ZOLEZZI, FRANCESCA, ROMANO, CARMELO, SCAVUZZO, CATALDO, SALLUZZO, ROBERTO, SCILLATO, FRANCESCO, SIGNORELLI, MARIA, KAPETIS, DIMOS, SALLUZZO, MARIA GRAZIA, BOSCO, PAOLO

“…Down's syndrome (DS) is one of the most common numerical chromosomal aberrations in humans, usually caused by trisomy of chromosome 21, and is the most…”
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Gene expression profiling and qRT-PCR expression of RRP1B, PCNT, KIF21A and ADRB2 in leucocytes of Down's syndrome subjects by Salemi, Michele, Barone, Concetta, Romano, Corrado, Zolezzi, Francesca, Romano, Carmelo, Scavuzzo, Cataldo, Salluzzo, Roberto, Scillato, Francesco, Signorelli, Maria, Kapetis, Dimos, Salluzzo, Maria Grazia, Bosco, Paolo

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Expression of LDOC1 mRNA in leucocytes of patients with Down’s syndrome by SALEMI, MICHELE, BARONE, CONCETTA, ROMANO, CARMELO, RIDOLFO, FEDERICO, SALLUZZO, ROBERTO, SCILLATO, FRANCESCO, SCAVUZZO, CATALDO, CARACI, FILIPPO, CALOGERO, ALDO E., ROMANO, CORRADO, BOSCO, PAOLO

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The CDC2 I-G-T haplotype associated with the APOE ε4 allele increases the risk of sporadic Alzheimer's disease in Sicily by BOSCO, Paolo, CARACI, Filippo, COPANI, Agata, SPADA, Rosario S, SORTINO, Maria Angela, SALLUZZO, Roberto, SALEMI, Michele, NICOLETTI, Ferdinando, FERN, Raffaele

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The CDC2 I-G-T haplotype associated with the APOE epsilon4 allele increases the risk of sporadic Alzheimer's disease in Sicily by Bosco, Paolo, Caraci, Filippo, Copani, Agata, Spada, Rosario S, Sortino, Maria Angela, Salluzzo, Roberto, Salemi, Michele, Nicoletti, Ferdinando, Ferri, Raffaele

“…The cell division cycle 2 (CDC2) gene is a candidate susceptibility gene for Alzheimer's disease (AD). We investigated the CDC2 genotype, and allele and…”
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The CDC2 I-G-T haplotype associated with the APOE ɛ4 allele increases the risk of sporadic Alzheimer's disease in Sicily by Bosco, Paolo, Caraci, Filippo, Copani, Agata, Spada, Rosario S., Sortino, Maria Angela, Salluzzo, Roberto, Salemi, Michele, Nicoletti, Ferdinando, Ferri, Raffaele

“…The cell division cycle 2 (CDC2) gene is a candidate susceptibility gene for Alzheimer's disease (AD). We investigated the CDC2 genotype, and allele and…”
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A new 6-bp SOX-3 polyalanine tract deletion does not segregate with mental retardation by Salemi, Michele, Romano, Corrado, Ragusa, Letizia, Di Vita, Giuseppa, Salluzzo, Roberto, Oteri, Ileana, Trovato, Maria Luisa, Romano, Carmelo, Caraci, Filippo, Nicoletti, Ferdinando, Bosco, Paolo

“…SOX-3 is a transcription factor expressed throughout the developing central nervous system and is involved in maintenance of pluripotency in self-renewing stem…”
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Monitoring of Brain Spiking Activity and Autoantibodies to N‐Terminus Domain of GluR1 Subunit of AMPA Receptors in Blood Serum of Rats with Cobalt‐Induced Epilepsy by Dambinova, Svetlana A., Granstrem, Oleg K., Tourov, Alexandre, Salluzzo, Roberto, Castello, Filippa, Izykenova, Galina A.

“…: We have monitored EEG spontaneous spiking activity and analyzed serum from rats with cobalt‐induced epilepsy for the presence of autoreactive antibodies to…”
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Does a peculiar EEG pattern exist also for FRAXE mental retardation? by Musumeci, Sebastiano A, Scuderi, Carmela, Ferri, Raffaele, Anello, Guido, Salluzzo, Roberto, Bosco, Paolo, Elia, Maurizio

“…Objective: FRAXE mental retardation, a recently identified rare genetic condition, is due to a mutation of the FMR2 gene, located at Xq28 region. The phenotype…”
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