Search Results - "MARI, Francesca"

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants by Pizzo, Lucilla, Jensen, Matthew, Polyak, Andrew, Rosenfeld, Jill A., Mannik, Katrin, Krishnan, Arjun, McCready, Elizabeth, Pichon, Olivier, Le Caignec, Cedric, Van Dijck, Anke, Pope, Kate, Voorhoeve, Els, Yoon, Jieun, Stankiewicz, Paweł, Cheung, Sau Wai, Pazuchanics, Damian, Huber, Emily, Kumar, Vijay, Kember, Rachel L., Mari, Francesca, Curró, Aurora, Castiglia, Lucia, Galesi, Ornella, Avola, Emanuela, Mattina, Teresa, Fichera, Marco, Mandarà, Luana, Vincent, Marie, Nizon, Mathilde, Mercier, Sandra, Bénéteau, Claire, Blesson, Sophie, Martin-Coignard, Dominique, Mosca-Boidron, Anne-Laure, Caberg, Jean-Hubert, Bucan, Maja, Zeesman, Susan, Nowaczyk, Małgorzata J. M., Lefebvre, Mathilde, Faivre, Laurence, Callier, Patrick, Skinner, Cindy, Keren, Boris, Perrine, Charles, Prontera, Paolo, Marle, Nathalie, Renieri, Alessandra, Reymond, Alexandre, Kooy, R. Frank, Isidor, Bertrand, Schwartz, Charles, Romano, Corrado, Sistermans, Erik, Amor, David J., Andrieux, Joris, Girirajan, Santhosh

“…Purpose To assess the contribution of rare variants in the genetic background toward variability of neurodevelopmental phenotypes in individuals with rare…”
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SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect by McNeill, Alisdair, Iovino, Emanuela, Mansard, Luke, Vache, Christel, Baux, David, Bedoukian, Emma, Cox, Helen, Dean, John, Goudie, David, Kumar, Ajith, Newbury-Ecob, Ruth, Fallerini, Chiara, Renieri, Alessandra, Lopergolo, Diego, Mari, Francesca, Blanchet, Catherine, Willems, Marjolaine, Roux, Anne-Francoise, Pippucci, Tommaso, Delpire, Eric

“…The SLC12 gene family consists of SLC12A1-SLC12A9, encoding electroneutral cation-coupled chloride co-transporters. SCL12A2 has been shown to play a role in…”
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MET is a new confirmed gene responsible for familial distal arthrogryposis by Maffeo, Debora, Carrer, Anna, Rina, Angela, Adamo, Loredaria, Lo Rizzo, Caterina, Bruttini, Mirella, Renieri, Alessandra, Mari, Francesca

“…In this Correspondence, F. Mari and colleagues report a second two-generation family with distal arthrogryposis caused by a mutation in MET tyrosine kinase…”
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New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing by Bruno, Lucia Pia, Doddato, Gabriella, Valentino, Floriana, Baldassarri, Margherita, Tita, Rossella, Fallerini, Chiara, Bruttini, Mirella, Lo Rizzo, Caterina, Mencarelli, Maria Antonietta, Mari, Francesca, Pinto, Anna Maria, Fava, Francesca, Fabbiani, Alessandra, Lamacchia, Vittoria, Carrer, Anna, Caputo, Valentina, Granata, Stefania, Benetti, Elisa, Zguro, Kristina, Furini, Simone, Renieri, Alessandra, Ariani, Francesca

“…Intellectual disability (ID) is characterized by impairments in the cognitive processes and in the tasks of daily life. It encompasses a clinically and…”
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Effect of the COVID‐19 vaccine on facial aesthetic injectables and suspension threads among patients treated by the Philippine Dermatological Society (PDS) dermatologists by Dim‐Jamora, Krisinda Clare C., Gulmatico‐Flores, Zharlah, Rescober‐Valencia, Ma. Cricelda, Lacson, Stephen, Ingente‐Tablante, Michelle, Robredo‐Vitas, Irene Gaile, Ang‐Tiu, Charlene, Sy‐Alvarado, Francesca Mari S., Ferrariz, Teresita S., Espinoza‐Thaebtharm, Agnes

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GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells by Livide, Gabriella, Patriarchi, Tommaso, Amenduni, Mariangela, Amabile, Sonia, Yasui, Dag, Calcagno, Eleonora, Lo Rizzo, Caterina, De Falco, Giulia, Ulivieri, Cristina, Ariani, Francesca, Mari, Francesca, Mencarelli, Maria Antonietta, Hell, Johannes Wilhelm, Renieri, Alessandra, Meloni, Ilaria

“…Rett syndrome is a monogenic disease due to de novo mutations in either MECP2 or CDKL5 genes. In spite of their involvement in the same disease, a functional…”
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Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder by Privitera, Flavia, Trusso, Maria A, Valentino, Floriana, Doddato, Gabriella, Fallerini, Chiara, Brunelli, Giulia, D'Aurizio, Romina, Furini, Simone, Goracci, Arianna, Fagiolini, Andrea, Mari, Francesca, Renieri, Alessandra, Ariani, Francesca

“…Bipolar disorder is a heritable chronic mental disorder that causes psychosocial impairment through depressive/manic episodes. Familial transmission of bipolar…”
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Revealing the complexity of a monogenic disease: rett syndrome exome sequencing by Grillo, Elisa, Lo Rizzo, Caterina, Bianciardi, Laura, Bizzarri, Veronica, Baldassarri, Margherita, Spiga, Ottavia, Furini, Simone, De Felice, Claudio, Signorini, Cinzia, Leoncini, Silvia, Pecorelli, Alessandra, Ciccoli, Lucia, Mencarelli, Maria Antonietta, Hayek, Joussef, Meloni, Ilaria, Ariani, Francesca, Mari, Francesca, Renieri, Alessandra

“…Rett syndrome (OMIM#312750) is a monogenic disorder that may manifest as a large variety of phenotypes ranging from very severe to mild disease. Since there is…”
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SELP Asp603Asn and severe thrombosis in COVID-19 males by Fallerini, Chiara, Daga, Sergio, Benetti, Elisa, Picchiotti, Nicola, Zguro, Kristina, Catapano, Francesca, Baroni, Virginia, Lanini, Simone, Bucalossi, Alessandro, Marotta, Giuseppe, Colombo, Francesca, Baldassarri, Margherita, Fava, Francesca, Beligni, Giada, Di Sarno, Laura, Alaverdian, Diana, Palmieri, Maria, Croci, Susanna, Isidori, Andrea M, Furini, Simone, Frullanti, Elisa, Renieri, Alessandra, Mari, Francesca

“…Thromboembolism is a frequent cause of severity and mortality in COVID-19. However, the etiology of this phenomenon is not well understood. A cohort of 1186…”
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Correction: SELP Asp603Asn and severe thrombosis in COVID-19 males by Fallerini, Chiara, Daga, Sergio, Benetti, Elisa, Picchiotti, Nicola, Zguro, Kristina, Catapano, Francesca, Baroni, Virginia, Lanini, Simone, Bucalossi, Alessandro, Marotta, Giuseppe, Colombo, Francesca, Baldassarri, Margherita, Fava, Francesca, Beligni, Giada, Di Sarno, Laura, Alaverdian, Diana, Palmieri, Maria, Croci, Susanna, Isidori, Andrea M, Furini, Simone, Frullanti, Elisa, Renieri, Alessandra, Mari, Francesca

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Dyskeratosis Congenita and Cancer in Mice Deficient in Ribosomal RNA Modification by Ruggero, Davide, Grisendi, Silvia, Piazza, Francesco, Rego, Eduardo, Mari, Francesca, Rao, Pulivarthi H., Cordon-Cardo, Carlos, Pandolfi, Pier Paolo

“…Mutations in DKC1 cause dyskeratosis congenita (DC), a disease characterized by premature aging and increased tumor susceptibility. The DKC1 protein binds to…”
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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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An Example of Neuro-Glial Commitment and Differentiation of Muse Stem Cells Obtained from Patients with IQSEC2 -Related Neural Disorder: A Possible New Cell-Based Disease Model by Al Sammarraie, Sura Hilal Ahmed, Aprile, Domenico, Meloni, Ilaria, Alessio, Nicola, Mari, Francesca, Manata, Marianna, Lo Rizzo, Caterina, Di Bernardo, Giovanni, Peluso, Gianfranco, Renieri, Alessandra, Galderisi, Umberto

“…Although adult stem cells may be useful for studying tissue-specific diseases, they cannot be used as a general model for investigating human illnesses given…”
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Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations by Valentino, Floriana, Bruno, Lucia Pia, Doddato, Gabriella, Giliberti, Annarita, Tita, Rossella, Resciniti, Sara, Fallerini, Chiara, Bruttini, Mirella, Lo Rizzo, Caterina, Mencarelli, Maria Antonietta, Mari, Francesca, Pinto, Anna Maria, Fava, Francesca, Baldassarri, Margherita, Fabbiani, Alessandra, Lamacchia, Vittoria, Benetti, Elisa, Zguro, Kristina, Furini, Simone, Renieri, Alessandra, Ariani, Francesca

“…Intellectual disability (ID) and autism spectrum disorder (ASD) belong to neurodevelopmental disorders and occur in ~1% of the general population. Due to…”
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Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress by Imperatore, Valentina, Mencarelli, Maria Antonietta, Fallerini, Chiara, Bianciardi, Laura, Ariani, Francesca, Furini, Simone, Renieri, Alessandra, Mari, Francesca, Frullanti, Elisa

“…We highlight the importance of exome sequencing in solving a clinical case of a child who died at 14 months after a series of respiratory crises. He was the…”
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Redox Imbalance and Morphological Changes in Skin Fibroblasts in Typical Rett Syndrome by Paccagnini, Eugenio, Gentile, Mariangela, Belmonte, Giuseppe, Giuseppe, Valacchi, Durand, Thierry, Galano, Jean-Marie, Ciccoli, Lucia, Renieri, Alessandra, Hayek, Joussef, Amabile, Sonia, Mari, Francesca, Ariani, Francesca, Meloni, Ilaria, Pecorelli, Alessandra, De Felice, Claudio, Leoncini, Silvia, Signorini, Cinzia, Zollo, Gloria

“…Evidence of oxidative stress has been reported in the blood of patients with Rett syndrome (RTT), a neurodevelopmental disorder mainly caused by mutations in…”
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Coffin–Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability by Mari, Francesca, Marozza, Annabella, Mencarelli, Maria Antonietta, Lo Rizzo, Caterina, Fallerini, Chiara, Dosa, Laura, Di Marco, Chiara, Carignani, Giulia, Baldassarri, Margherita, Cianci, Paola, Vivarelli, Rossella, Vascotto, Marina, Grosso, Salvatore, Rubegni, Pietro, Caffarelli, Carla, Pretegiani, Elena, Fimiani, Michele, Garavelli, Livia, Cristofoli, Francesca, Vermeesch, Joris R, Nuti, Ranuccio, Dotti, Maria Teresa, Balestri, Paolo, Hayek, Joussef, Selicorni, Angelo, Renieri, Alessandra

“…Abstract Background Nicolaides–Baraitser and Coffin–Siris syndromes are emerging conditions with overlapping clinical features including intellectual…”
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Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes by Doddato, Gabriella, Valentino, Floriana, Giliberti, Annarita, Papa, Filomena Tiziana, Tita, Rossella, Bruno, Lucia Pia, Resciniti, Sara, Fallerini, Chiara, Benetti, Elisa, Palmieri, Maria, Mencarelli, Maria Antonietta, Fabbiani, Alessandra, Bruttini, Mirella, Orrico, Alfredo, Baldassarri, Margherita, Fava, Francesca, Lopergolo, Diego, Rizzo, Caterina Lo, Lamacchia, Vittoria, Mannucci, Sara, Pinto, Anna Maria, Currò, Aurora, Mancini, Virginia, Mari, Francesca, Renieri, Alessandra, Ariani, Francesca

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Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome by Marcocci, Elena, Uliana, Vera, Bruttini, Mirella, Artuso, Rosangela, Silengo, Margherita Cirillo, Zerial, Marlenka, Bergesio, Franco, Amoroso, Antonio, Savoldi, Silvana, Pennesi, Marco, Giachino, Daniela, Rombolà, Giuseppe, Fogazzi, Giovanni Battista, Rosatelli, Cristina, Martinhago, Ciro Dresch, Carmellini, Mario, Mancini, Roberta, Di Costanzo, Giuseppina, Longo, Ilaria, Renieri, Alessandra, Mari, Francesca

“…Background. Alport syndrome is a clinically and genetically heterogeneous nephropathy characterized by glomerular basement membrane lesions often associated…”
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Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation by Pinto, Anna Maria, Bianciardi, Laura, Mencarelli, Maria Antonietta, Imperatore, Valentina, Di Marco, Chiara, Furini, Simone, Suppiej, Agnese, Salviati, Leonardo, Tenconi, Romano, Ariani, Francesca, Mari, Francesca, Renieri, Alessandra

“…Abstract Background Neurodevelopmental disorders include a broad spectrum of conditions, which are characterized by delayed motor and/or cognitive milestones…”
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