Search Results - "Di Stazio, Mariateresa"

Nonmuscle Myosin Heavy-Chain Gene MYH14 Is Expressed in Cochlea and Mutated in Patients Affected by Autosomal Dominant Hearing Impairment (DFNA4) by Donaudy, Francesca, Snoeckx, Rik, Pfister, Markus, Zenner, Hans-Peter, Blin, Nikolaus, Di Stazio, Mariateresa, Ferrara, Antonella, Lanzara, Carmen, Ficarella, Romina, Declau, Frank, Pusch, Carsten M., Nürnberg, Peter, Melchionda, Salvatore, Zelante, Leopoldo, Ballana, Ester, Estivill, Xavier, Van Camp, Guy, Gasparini, Paolo, Savoia, Anna

“…Myosins have been implicated in various motile processes, including organelle translocation, ion-channel gating, and cytoskeleton reorganization. Different…”
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Systematic analysis of factors that improve homologous direct repair (HDR) efficiency in CRISPR/Cas9 technique by Di Stazio, Mariateresa, Foschi, Nicola, Athanasakis, Emmanouil, Gasparini, Paolo, d'Adamo, Adamo Pio

“…The CRISPR/Cas9 bacterial system has proven to be an powerful tool for genetic manipulation in several organisms, but the efficiency of sequence replacement by…”
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Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2 by Pippucci, Tommaso, Savoia, Anna, Perrotta, Silverio, Pujol-Moix, Núria, Noris, Patrizia, Castegnaro, Giovanni, Pecci, Alessandro, Gnan, Chiara, Punzo, Francesca, Marconi, Caterina, Gherardi, Samuele, Loffredo, Giuseppe, De Rocco, Daniela, Scianguetta, Saverio, Barozzi, Serena, Magini, Pamela, Bozzi, Valeria, Dezzani, Luca, Di Stazio, Mariateresa, Ferraro, Marcella, Perini, Giovanni, Seri, Marco, Balduini, Carlo L.

“…THC2, an autosomal-dominant thrombocytopenia described so far in only two families, has been ascribed to mutations in MASTL or ACBD5. Here, we show that…”
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TBL1Y: a new gene involved in syndromic hearing loss by Di Stazio, Mariateresa, Collesi, Chiara, Vozzi, Diego, Liu, Wei, Myers, Mike, Morgan, Anna, D Adamo, Pio Adamo, Girotto, Giorgia, Rubinato, Elisa, Giacca, Mauro, Gasparini, Paolo

“…Hereditary hearing loss (HHL) is an extremely heterogeneous disorder with autosomal dominant, recessive, and X-linked forms. Here, we described an Italian…”
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Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss by Morgan, Anna, Vuckovic, Dragana, Krishnamoorthy, Navaneethakrishnan, Rubinato, Elisa, Ambrosetti, Umberto, Castorina, Pierangela, Franzè, Annamaria, Vozzi, Diego, La Bianca, Martina, Cappellani, Stefania, Di Stazio, Mariateresa, Gasparini, Paolo, Girotto, Giorgia

“…Hereditary hearing loss (HHL) and age-related hearing loss (ARHL) are two major sensory diseases affecting millions of people worldwide. Despite many efforts,…”
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Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B -Associated Disorders by Di Stazio, Mariateresa, Zanus, Caterina, Faletra, Flavio, Pesaresi, Alessia, Ziccardi, Ilaria, Morgan, Anna, Girotto, Giorgia, Costa, Paola, Carrozzi, Marco, d'Adamo, Adamo P, Musante, Luciana

“…encodes for the regulatory subunit of the casein kinase II, a serine/threonine kinase that is highly expressed in the brain and implicated in development,…”
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What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study by Bianco, Anna Monica, Ragusa, Giulia, Di Carlo, Valentina, Faletra, Flavio, Di Stazio, Mariateresa, Racano, Costantina, Trisolino, Giovanni, Cappellani, Stefania, De Pellegrin, Maurizio, d'Addetta, Ignazio, Carluccio, Giuseppe, Monforte, Sergio, Andreacchio, Antonio, Dibello, Daniela, d'Adamo, Adamo P

“…Congenital clubfoot is a common pediatric malformation that affects approximately 0.1% of all births. 80% of the cases appear isolated, while 20% can be…”
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Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations by SAVOIA, Anna, PASTORE, Annalisa, BALDUINI, Carlo L, NORIS, Patrizia, DE ROCCO, Daniela, CIVASCHI, Elisa, DI STAZIO, Mariateresa, BOTTEGA, Roberta, MELAZZINI, Federica, BOZZI, Valeria, PECCI, Alessandro, MAGRIN, Silvana

“…Bernard-Soulier syndrome is a severe bleeding disease due to a defect of GPIb/IX/V, a platelet complex that binds the von Willebrand factor. Due to the rarity…”
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Next Generation Sequencing and Animal Models Reveal SLC9A3R1 as a New Gene Involved in Human Age-Related Hearing Loss by Girotto, Giorgia, Morgan, Anna, Krishnamoorthy, Navaneethakrishnan, Cocca, Massimiliano, Brumat, Marco, Bassani, Sissy, La Bianca, Martina, Di Stazio, Mariateresa, Gasparini, Paolo

“…Age-related hearing loss (ARHL) is the most common sensory impairment in the elderly affecting millions of people worldwide. To shed light on the genetics of…”
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Identification of a New Mutation in RSK2, the Gene for Coffin–Lowry Syndrome (CLS), in Two Related Patients with Mild and Atypical Phenotypes by Di Stazio, Mariateresa, Bigoni, Stefania, Iuso, Nicola, Vuch, Josef, Selvatici, Rita, Ulivi, Sheila, d’Adamo, Pio Adamo

“…Background: Coffin–Lowry syndrome (CLS) is a syndromic form of X-linked intellectual disability, in which specific associated facial, hand, and skeletal…”
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Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations by Savoia, Anna, Dufour, Carlo, Locatelli, Franco, Noris, Patrizia, Ambaglio, Chiara, Rosti, Vittorio, Zecca, Marco, Ferrari, Simona, di Bari, Filomena, Corcione, Anna, Di Stazio, Mariateresa, Seri, Marco, Balduini, Carlo L

“…From Medical Genetics, Department of Reproductive and Developmental Science, IRCCS Burlo Garofolo Children’s Hospital, University of Trieste, Italy (AS,MDS);…”
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Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II nonmuscle myosin heavy chains by MARIGO, Valeria, NIGRO, Alessandra, PECCI, Alessandro, MONTANARO, Donatella, DI STAZIO, Mariateresa, BALDUINI, Carlo L, SAVOIA, Anna

“…Nonmuscle myosin heavy chain II-A is responsible for MYH9-related disease, which is characterized by macrothrombocytopenia, granulocyte inclusions, deafness,…”
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Cleft lip with or without cleft palate: implication of the heavy chain of non-muscle myosin IIA by Martinelli, Marcella, Di Stazio, Mariateresa, Scapoli, Luca, Marchesini, Jlenia, Di Bari, Filomena, Pezzetti, Furio, Carinci, Francesco, Palmieri, Annalisa, Carinci, Paolo, Savoia, Anna

“…Non-syndromic cleft lip with or without palate (CL/P) is one of the most common malformations among live births, but most of the genetic components and…”
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Hypohydrotic Ectodermal Dysplasia: A Clinical Case Report by Callea, Michele, Paglia, Michela, Bahsi, Emrullah, Di Stazio, Mariateresa, Ince, Bayram, Fedele, Giulia, Yavuz, Yasemin, Paglia, Luigi

“…In times where rare diseases, mostly of genetic offspring, lead research to carry out genetic counselling to better understand the pathogenetic role of the…”
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Investigation of MYH14 as a candidate gene in cleft lip with or without cleft palate by Martinelli, Marcella, Arlotti, Marzia, Palmieri, Annalisa, Scapoli, Luca, Savoia, Anna, Di Stazio, Mariateresa, Pezzetti, Furio, Masiero, Elena, Carinci, Francesco

“…Clefts of the orofacial region are among the most common facial defects and are caused by abnormal facial development during gestation. Cleft lip with or…”
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Systematic analysis of factors that improve homologous direct repair by Di Stazio, Mariateresa, Foschi, Nicola, Athanasakis, Emmanouil, Gasparini, Paolo, d'Adamo, Adamo Pio

“…The CRISPR/Cas9 bacterial system has proven to be an powerful tool for genetic manipulation in several organisms, but the efficiency of sequence replacement by…”
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Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of ICSNK2B/I-Associated Disorders by Di Stazio, Mariateresa, Zanus, Caterina, Faletra, Flavio, Pesaresi, Alessia, Ziccardi, Ilaria, Morgan, Anna, Girotto, Giorgia, Costa, Paola, Carrozzi, Marco, d’Adamo, Adamo P, Musante, Luciana

“…CSNK2B encodes for the regulatory subunit of the casein kinase II, a serine/threonine kinase that is highly expressed in the brain and implicated in…”
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Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss by Vuckovic, Dragana, Dawson, Sally, Scheffer, Deborah I, Rantanen, Taina, Morgan, Anna, Di Stazio, Mariateresa, Vozzi, Diego, Nutile, Teresa, Concas, Maria P, Biino, Ginevra, Nolan, Lisa, Bahl, Aileen, Loukola, Anu, Viljanen, Anne, Davis, Adrian, Ciullo, Marina, Corey, David P, Pirastu, Mario, Gasparini, Paolo, Girotto, Giorgia

“…Hearing loss and individual differences in normal hearing both have a substantial genetic basis. Although many new genes contributing to deafness have been…”
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What Is the Exact Contribution of IPITX1/I and ITBX4/I Genes in Clubfoot Development? An Italian Study by Bianco, Anna Monica, Ragusa, Giulia, Di Carlo, Valentina, Faletra, Flavio, Di Stazio, Mariateresa, Racano, Costantina, Trisolino, Giovanni, Cappellani, Stefania, De Pellegrin, Maurizio, d’Addetta, Ignazio, Carluccio, Giuseppe, Monforte, Sergio, Andreacchio, Antonio, Dibello, Daniela, d’Adamo, Adamo P

“…Congenital clubfoot is a common pediatric malformation that affects approximately 0.1% of all births. 80% of the cases appear isolated, while 20% can be…”
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Next generation sequencing panel target genes: possible diagnostic tool for ectodermal dysplasia related diseases by Callea, Michele, Bellacchio, Emanuele, Cammarata Scalisi, Francisco, El Feghaly, Jinia, El-Ghandour, Rabab K, Avendaño, Andrea, Yavuz, Yasemine, Diociaiuti, Andrea, Digilio, Maria C, DI Stazio, Mariateresa, Novelli, Antonio, Oranges, Teresa, Filippeschi, Cesare, Pisaneschi, Elisa, Jilani, Houweyda, Gigola, Francesca, Willoughby, Colin E, Morabito, Antonino

“…Ectodermal dysplasias (EDs) are a large and complex group of disorders affecting the ectoderm-derived organs; the clinical and genetic heterogeneity of these…”
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