Search Results - "Marina Grasso"

Workload measurement for molecular genetics laboratory: A survey study by Tagliafico, Enrico, Bernardis, Isabella, Grasso, Marina, D'Apice, Maria Rosaria, Lapucci, Cristina, Botta, Annalisa, Giachino, Daniela Francesca, Marinelli, Maria, Primignani, Paola, Russo, Silvia, Sani, Ilaria, Seia, Manuela, Fini, Sergio, Rimessi, Paola, Tenedini, Elena, Ravani, Anna, Genuardi, Maurizio, Ferlini, Alessandra

“…Genetic testing availability in the health care system is rapidly increasing, along with the diffusion of next-generation sequencing (NGS) into diagnostics…”
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FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the FMR1 Gene by Fernández, Esperanza, Gennaro, Elena, Pirozzi, Filomena, Baldo, Chiara, Forzano, Francesca, Turolla, Licia, Faravelli, Francesca, Gastaldo, Denise, Coviello, Domenico, Grasso, Marina, Bagni, Claudia

“…Fragile X syndrome (FXS) is mostly caused by two distinct events that occur in the gene (Xq27.3): an expansion above 200 repeats of a CGG triplet located in…”
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FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3-q28 in a male and his mother by Cavani, Simona, Prontera, Paolo, Grasso, Marina, Ardisia, Carmela, Malacarne, Michela, Gradassi, Cristina, Cecconi, Massimiliano, Mencarelli, Amedea, Donti, Emilio, Pierluigi, Mauro

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ASPECTOS INFORMATIVOS DEL LENGUAJE VAGO by Grasso, Marina

“…The corpus analysed belongs to the research project Cohesion and coherence in colloquial interaction, (Universidad Nacional de La Plata, Argentina) and it is…”
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Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care by Ivanovski, Ivan, Djuric, Olivera, Caraffi, Stefano Giuseppe, Santodirocco, Daniela, Pollazzon, Marzia, Rosato, Simonetta, Cordelli, Duccio Maria, Abdalla, Ebtesam, Accorsi, Patrizia, Adam, Margaret P, Ajmone, Paola Francesca, Badura-Stronka, Magdalena, Baldo, Chiara, Baldi, Maddalena, Bayat, Allan, Bigoni, Stefania, Bonvicini, Federico, Breckpot, Jeroen, Callewaert, Bert, Cocchi, Guido, Cuturilo, Goran, De Brasi, Daniele, Devriendt, Koenraad, Dinulos, Mary Beth, Hjortshøj, Tina Duelund, Epifanio, Roberta, Faravelli, Francesca, Fiumara, Agata, Formisano, Debora, Giordano, Lucio, Grasso, Marina, Grønborg, Sabine, Iodice, Alessandro, Iughetti, Lorenzo, Kuburovic, Vladimir, Kutkowska-Kazmierczak, Anna, Lacombe, Didier, Lo Rizzo, Caterina, Luchetti, Anna, Malbora, Baris, Mammi, Isabella, Mari, Francesca, Montorsi, Giulia, Moutton, Sebastien, Møller, Rikke S, Muschke, Petra, Nielsen, Jens Erik Klint, Obersztyn, Ewa, Pantaleoni, Chiara, Pellicciari, Alessandro, Pisanti, Maria Antonietta, Prpic, Igor, Poch-Olive, Maria Luisa, Raviglione, Federico, Renieri, Alessandra, Ricci, Emilia, Rivieri, Francesca, Santen, Gijs W, Savasta, Salvatore, Scarano, Gioacchino, Schanze, Ina, Selicorni, Angelo, Silengo, Margherita, Smigiel, Robert, Spaccini, Luigina, Sorge, Giovanni, Szczaluba, Krzysztof, Tarani, Luigi, Tone, Luis Gonzaga, Toutain, Annick, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Zanotta, Nicoletta, Zenker, Martin, Conidi, Andrea, Zollino, Marcella, Rauch, Anita, Zweier, Christiane, Garavelli, Livia

“…Purpose Mowat–Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene…”
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Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome by Testa, Barbara, Conteduca, Giuseppina, Grasso, Marina, Cecconi, Massimiliano, Lantieri, Francesca, Baldo, Chiara, Arado, Alessia, Andraghetti, Laura, Malacarne, Michela, Milani, Donatella, Coviello, Domenico, Sotos Collaborative Group

“…Sotos syndrome is a rare genetic disorder caused by haploinsufficiency of the (nuclear receptor binding SET domain containing protein 1) gene. No clinical…”
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Aortic dilation in Sotos syndrome: An underestimated feature? by Pezzani, Lidia, Mauri, Lucia, Selicorni, Angelo, Peron, Angela, Grasso, Marina, Codazzi, Alessia C., Rimini, Alessandro, Marchisio, Paola G., Coviello, Domenico, Colli, Anna, Milani, Donatella

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Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients by Garavelli, Livia, Ivanovski, Ivan, Caraffi, Stefano Giuseppe, Santodirocco, Daniela, Pollazzon, Marzia, Cordelli, Duccio Maria, Abdalla, Ebtesam, Accorsi, Patrizia, Adam, Margaret P., Baldo, Chiara, Bayat, Allan, Belligni, Elga, Bonvicini, Federico, Breckpot, Jeroen, Callewaert, Bert, Cocchi, Guido, Cuturilo, Goran, Devriendt, Koenraad, Dinulos, Mary Beth, Djuric, Olivera, Epifanio, Roberta, Faravelli, Francesca, Formisano, Debora, Giordano, Lucio, Grasso, Marina, Grønborg, Sabine, Iodice, Alessandro, Iughetti, Lorenzo, Lacombe, Didier, Maggi, Massimo, Malbora, Baris, Mammi, Isabella, Moutton, Sebastien, Møller, Rikke, Muschke, Petra, Napoli, Manuela, Pantaleoni, Chiara, Pascarella, Rosario, Pellicciari, Alessandro, Poch-Olive, Maria Luisa, Raviglione, Federico, Rivieri, Francesca, Russo, Carmela, Savasta, Salvatore, Scarano, Gioacchino, Selicorni, Angelo, Silengo, Margherita, Sorge, Giovanni, Tarani, Luigi, Tone, Luis Gonzaga, Toutain, Annick, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Zanotta, Nicoletta, Zollino, Marcella, Dobyns, William B, Paciorkowski, Alex R

“…Purpose: Mowat–Wilson syndrome (MWS) is a genetic disease characterized by distinctive facial features, moderate to severe intellectual disability, and…”
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Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation by Corsello, Giovanni, Salzano, Emanuela, Vecchio, Davide, Antona, Vincenzo, Grasso, Marina, Malacarne, Michela, Carella, Massimo, Palumbo, Pietro, Piro, Ettore, Giuffre, Mario

“…The human chromosome 14q32 carries a cluster of imprinted genes which include the paternally expressed genes (PEGs) DLK1 and RTL1, as well as the maternally…”
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Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation by Corsello, Giovanni, Salzano, Emanuela, Vecchio, Davide, Antona, Vincenzo, Grasso, Marina, Malacarne, Michela, Carella, Massimo, Palumbo, Pietro, Piro, Ettore, Giuffrè, Mario

“…The human chromosome 14q32 carries a cluster of imprinted genes which include the paternally expressed genes (PEGs) DLK1 and RTL1, as well as the maternally…”
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Expressions used by young argentine spanish speakers: neutralization of discrepancies between interlocutors by Marina Grasso

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A Novel Methylation PCR that Offers Standardized Determination of FMR1 Methylation and CGG Repeat Length without Southern Blot Analysis by Grasso, Marina, Boon, Elles M.J, Filipovic-Sadic, Stela, van Bunderen, Patrick A, Gennaro, Elena, Cao, Ru, Latham, Gary J, Hadd, Andrew G, Coviello, Domenico A

“…Fragile X syndrome and associated disorders are characterized by the number of CGG repeats and methylation status of the FMR1 gene for which Southern blot (SB)…”
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Aspectos informativos del lenguaje vago by Grasso, Marina

“…En el presente trabajo se analizan distintas funciones que el lenguaje vago expresa en conversaciones informales entre jóvenes argentinos, y las razones…”
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The FMR1 CGG repeat test is not a candidate prescreening tool for identifying women with a high probability of being carriers of BRCA mutations by Ricci, Maria Teresa, Pennese, Loredana, Gismondi, Viviana, Perfumo, Chiara, Grasso, Marina, Gennaro, Elena, Bruzzi, Paolo, Varesco, Liliana

“…The identification of women with a high probability of being carriers of pathogenic BRCA mutation is not straightforward and a major improvement would be the…”
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MS-MLPA analysis for FMR1 gene: evaluation in a routine diagnostic setting by Gatta, Valentina, Gennaro, Elena, Franchi, Sara, Cecconi, Massimiliano, Antonucci, Ivana, Tommasi, Marco, Palka, Giandomenico, Coviello, Domenico, Stuppia, Liborio, Grasso, Marina

“…Fragile X Syndrome (FXS), the most common cause of familiar mental retardation, is associated in over 99% of cases to an expansion over 200 repeats of a CGG…”
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14q13.1‐21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly by Piccione, Maria, Serra, Gregorio, Consiglio, Valeria, Di Fiore, Antonella, Cavani, Simona, Grasso, Marina, Malacarne, Michela, Pierluigi, Mauro, Viaggi, Chiara, Corsello, Giovanni

“…Interstitial deletions involving 14q13.1q21.1 are rare. In the literature at least 10 cases involving this region have been described and all patients showed a…”
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Epilepsy in Mowat-Wilson syndrome: Delineation of the electroclinical phenotype by Cordelli, Duccio Maria, Garavelli, Livia, Savasta, Salvatore, Guerra, Azzurra, Pellicciari, Alessandro, Giordano, Lucio, Bonetti, Silvia, Cecconi, Ilaria, Wischmeijer, Anita, Seri, Marco, Rosato, Simonetta, Gelmini, Chiara, Della Giustina, Elvio, Ferrari, Anna Rita, Zanotta, Nicoletta, Epifanio, Roberta, Grioni, Daniele, Malbora, Baris, Mammi, Isabella, Mari, Francesca, Buoni, Sabrina, Mostardini, Rosa, Grosso, Salvatore, Pantaleoni, Chiara, Doz, Morena, Poch-Olivé, Maria Luisa, Rivieri, Francesca, Sorge, Giovanni, Simonte, Graziella, Licata, Francesca, Tarani, Luigi, Terazzi, Emanuela, Mazzanti, Laura, Cerruti Mainardi, Paola, Boni, Antonella, Faravelli, Francesca, Grasso, Marina, Bianchi, Paolo, Zollino, Marcella, Franzoni, Emilio

“…Mowat–Wilson syndrome (MWS) is a genetic disease caused by heterozygous mutations or deletions of the ZEB2 gene and is characterized by distinctive facial…”
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Array CGH defined interstitial deletion on chromosome 14: a new case by Piccione, Maria, Antona, Vincenzo, Scavone, Valeria, Malacarne, Michela, Pierluigi, Mauro, Grasso, Marina, Corsello, Giovanni

“…Interstitial deletions of the long arm of chromosome 14 are relatively rare. We report a 8.5-year-old girl with dysmorphic facial features and mental…”
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Mutations in GDI1 are responsible for X-linked non-specific mental retardation by Toniolo, Daniela, D'Adamo, Patrizia, Menegon, Andrea, Lo Nigro, Cristiana, Grasso, Marina, Gulisano, Massimo, Tamanini, Filippo, Bienvenu, Thierry, Gedeon, Agi K, Oostra, Ben, Wu, Shih-Kwang, Tandon, Anurag, Valtorta, Flavia, Balch, William E, Chelly, Jamel

“…Rab GDP-dissociation inhibitors (GDI) are evolutionarily conserved proteins that play an essential role in the recycling of Rab GTPases required for vesicular…”
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Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene by Cecconi, Massimiliano, Forzano, Francesca, Garavelli, Livia, Pantaleoni, Chiara, Grasso, Marina, Dagna Bricarelli, Franca, Perroni, Lucia, Di Maria, Emilio, Faravelli, Francesca

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