Search Results - "FICHERA, Marco"

Relative burden of large CNVs on a range of neurodevelopmental phenotypes by Girirajan, Santhosh, Brkanac, Zoran, Coe, Bradley P, Baker, Carl, Vives, Laura, Vu, Tiffany H, Shafer, Neil, Bernier, Raphael, Ferrero, Giovanni B, Silengo, Margherita, Warren, Stephen T, Moreno, Carlos S, Fichera, Marco, Romano, Corrado, Raskind, Wendy H, Eichler, Evan E

“…While numerous studies have implicated copy number variants (CNVs) in a range of neurological phenotypes, the impact relative to disease severity has been…”
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Trait − driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes by Miceli, Martina, Failla, Pinella, Saccuzzo, Lucia, Galesi, Ornella, Amata, Silvestra, Romano, Corrado, Bonaglia, Maria Clara, Fichera, Marco

“…Background Individuals with the 2p15p16.1 microdeletion syndrome share a complex phenotype including neurodevelopmental delay, brain malformations,…”
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Sox11 is required to maintain proper levels of Hedgehog signaling during vertebrate ocular morphogenesis by Pillai-Kastoori, Lakshmi, Wen, Wen, Wilson, Stephen G, Strachan, Erin, Lo-Castro, Adriana, Fichera, Marco, Musumeci, Sebastiano A, Lehmann, Ordan J, Morris, Ann C

“…Ocular coloboma is a sight-threatening malformation caused by failure of the choroid fissure to close during morphogenesis of the eye, and is frequently…”
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Discriminatory Weight of SNPs in Spike SARS-CoV-2 Variants: A Technically Rapid, Unambiguous, and Bioinformatically Validated Laboratory Approach by Musso, Nicolò, Bonacci, Paolo Giuseppe, Bongiorno, Dafne, Stracquadanio, Stefano, Bivona, Dalida Angela, Palermo, Concetta Ilenia, Scalia, Guido, Fichera, Marco, Stefani, Stefania

“…The SARS-CoV-2 virus has assumed considerable importance during the COVID-19 pandemic. Its mutation rate is high, involving the spike (S) gene and thus there…”
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MECP2 missense mutations outside the canonical MBD and TRD domains in males with intellectual disability by Bianciardi, Laura, Fichera, Marco, Failla, Pinella, Di Marco, Chiara, Grozeva, Detelina, Mencarelli, Maria Antonietta, Spiga, Ottavia, Mari, Francesca, Meloni, Ilaria, Raymond, Lucy, Renieri, Alessandra, Romano, Corrado, Ariani, Francesca

“…Methyl-CpG-binding protein 2 (MeCP2) is a nuclear protein highly expressed in neurons that is involved in transcriptional modulation and chromatin remodeling…”
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Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome by Bonaglia, Maria Clara, Bertuzzo, Sara, Ciaschini, Anna Maria, Discepoli, Giancarlo, Castiglia, Lucia, Romaniello, Romina, Zuffardi, Orsetta, Fichera, Marco

“…It has been known for more than 30 years that balanced translocations, especially if de novo, can associate with congenital malformations and / or…”
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Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome by Barresi, Vincenza, Ragusa, Angela, Fichera, Marco, Musso, Nicolò, Castiglia, Lucia, Rappazzo, Giancarlo, Travali, Salvatore, Mattina, Teresa, Romano, Corrado, Cocchi, Guido, Condorelli, Daniele F

“…ATRX is a severe X-linked disorder characterized by mental retardation, facial dysmorphism, urogenital abnormalities and alpha-thalassemia. The disease is…”
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6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies by Di Benedetto, Daniela, Di Vita, Giuseppa, Romano, Corrado, Giudice, Mariangela Lo, Vitello, Girolamo Aurelio, Zingale, Marinella, Grillo, Lucia, Castiglia, Lucia, Musumeci, Sebastiano Antonino, Fichera, Marco

“…The interstitial 6p deletions, involving the 6p22-p24 chromosomal region, are rare events characterized by variable phenotypes and no clear genotype-phenotype…”
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Identification of novel mutations in L1CAM gene by a DHPLC-based assay by Vinci, Mirella, Falco, Michele, Castiglia, Lucia, Grillo, Lucia, Spalletta, Angela, Sturnio, Maurizio, Galesi, Ornella, Salemi, Michele, Gloria, Angelo, Amata, Silvestra, Piccione, Maria, Antona, Vincenzo, Vitello, Girolamo Aurelio, Fichera, Marco

“…X-linked hydrocephalus, MASA syndrome, X-linked complicated Spastic Paraplegia Type I, and X-linked partial agenesis of the corpus callosum are rare diseases…”
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Partial monosomy Xq(Xq23 → qter) and trisomy 4p(4p15.33 → pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features by Bartocci, Arnaldo, Striano, Pasquale, Mancardi, Maria Margherita, Fichera, Marco, Castiglia, Lucia, Galesi, Ornella, Michelucci, Roberto, Elia, Maurizio

“…Abstract Studies of epilepsy associated with chromosomal abnormalities may provide information about clinical and EEG phenotypes and possibly to identify new…”
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A novel L1CAM mutation in a fetus detected by prenatal diagnosis by Piccione, Maria, Matina, Federico, Fichera, Marco, Lo Giudice, Mariangela, Damiani, Gianfranca, Jakil, Maria Cristina, Corsello, Giovanni

“…X-linked hydrocephalus is due to mutations in the L1 neuronal cell adhesion molecule ( L1CAM ) gene. L1 protein plays a key role in neurite outgrowth, axonal…”
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Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome by Calì, Francesco, Ragalmuto, Alda, Chiavetta, Valeria, Calabrese, Giuseppe, Fichera, Marco, Vinci, Mirella, Ruggeri, Giuseppa, Schinocca, Pietro, Sturnio, Maurizio, Romano, Salvatore, Romano, Valentino, Elia, Maurizio

“…Angelman syndrome (AS) is a severe neurobehavioural disorder caused by failure of expression of the maternal copy of the imprinted domain located on 15q11-q13…”
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The embryo battle against adverse genomes: Are de novo terminal deletions the rescue of unfavorable zygotic imbalances? by Zuffardi, Orsetta, Fichera, Marco, Bonaglia, Maria Clara

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RSK2 enzymatic assay as a second level diagnostic tool in Coffin-Lowry syndrome by Micheli, Vanna, Sestini, Sylvia, Parri, Veronica, Fichera, Marco, Romano, Corrado, Ariani, Francesca, Longo, Ilaria, Mari, Francesca, Bruttini, Mirella, Renieri, Alessandra, Meloni, Ilaria

“…Coffin-Lowry syndrome is a semi-dominant condition characterized by severe psychomotor retardation with facial, hand and skeletal malformations resulting from…”
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Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis by Falco, Michele, Scuderi, Carmela, Musumeci, Sebastiano, Sturnio, Maurizio, Neri, Marcella, Bigoni, Stefania, Caniatti, Luisa, Fichera, Marco

“…The most common form of autosomal dominant hereditary spastic paraplegia is caused by mutations in the gene encoding spastin (SPG4), a member of the AAA family…”
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Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development by Bernier, Raphael, Golzio, Christelle, Xiong, Bo, Stessman, Holly A., Coe, Bradley P., Penn, Osnat, Witherspoon, Kali, Gerdts, Jennifer, Baker, Carl, Vulto-van Silfhout, Anneke T., Schuurs-Hoeijmakers, Janneke H., Fichera, Marco, Bosco, Paolo, Buono, Serafino, Alberti, Antonino, Failla, Pinella, Peeters, Hilde, Steyaert, Jean, Vissers, Lisenka E.L.M., Francescatto, Ludmila, Mefford, Heather C., Rosenfeld, Jill A., Bakken, Trygve, O’Roak, Brian J., Pawlus, Matthew, Moon, Randall, Shendure, Jay, Amaral, David G., Lein, Ed, Rankin, Julia, Romano, Corrado, de Vries, Bert B.A., Katsanis, Nicholas, Eichler, Evan E.

“…Autism spectrum disorder (ASD) is a heterogeneous disease in which efforts to define subtypes behaviorally have met with limited success. Hypothesizing that…”
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Antitumoural activity of a cytotoxic peptide of Lactobacillus casei peptidoglycan and its interaction with mitochondrial-bound hexokinase by Fichera, Giuseppe A, Fichera, Marco, Milone, Giuseppe

“…In a previous study, we reported the cytotoxic activity against various tumour cells of the peptidoglycan of Lactobacillus casei. To isolate the most active…”
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Refining analyses of copy number variation identifies specific genes associated with developmental delay by Coe, Bradley P, Witherspoon, Kali, Rosenfeld, Jill A, van Bon, Bregje W M, Vulto-van Silfhout, Anneke T, Bosco, Paolo, Friend, Kathryn L, Baker, Carl, Buono, Serafino, Vissers, Lisenka E L M, Schuurs-Hoeijmakers, Janneke H, Hoischen, Alex, Pfundt, Rolph, Krumm, Nik, Carvill, Gemma L, Li, Deana, Amaral, David, Brown, Natasha, Lockhart, Paul J, Scheffer, Ingrid E, Alberti, Antonino, Shaw, Marie, Pettinato, Rosa, Tervo, Raymond, de Leeuw, Nicole, Reijnders, Margot R F, Torchia, Beth S, Peeters, Hilde, Thompson, Elizabeth, O'Roak, Brian J, Fichera, Marco, Hehir-Kwa, Jayne Y, Shendure, Jay, Mefford, Heather C, Haan, Eric, Gécz, Jozef, de Vries, Bert B A, Romano, Corrado, Eichler, Evan E

“…Evan Eichler and colleagues report an expanded copy number variation (CNV) morbidity map of developmental delay, with additional resequencing of candidate…”
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PARK2 microdeletion in a multiplex family with autism spectrum disorder by Barone, Rita, Cirnigliaro, Lara, Saccuzzo, Lucia, Valdese, Silvia, Pettinato, Fabio, Prato, Adriana, Bernardini, Laura, Fichera, Marco, Rizzo, Renata

“…Background PARK2 (PRKN; MIM*602544) encodes Parkin protein, an ubiquitin‐protein ligase required for proteasomal degradation and operating in the synaptic…”
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Low-level complex mosaic with multiple cell lines affecting the 18q21.31q21.32 region in a patient with de novo 18q terminal deletion by Bonaglia, Maria Clara, Fichera, Marco, Marelli, Susan, Romaniello, Romina, Zuffardi, Orsetta

“…We describe a 5-year-old girl who was diagnosed at birth with 18q de novo homogeneous deletion at G-banding karyotype. Her clinical condition, characterized by…”
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