Hakutulokset - Niceta, Marcello

Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review Tekijä Niceta, Marcello, Dentici, Maria Lisa, Ciolfi, Andrea, Marini, Romana, Barresi, Sabina, Lepri, Francesca Romana, Novelli, Antonio, Bertini, Enrico, Cappa, Marco, Digilio, Maria Cristina, Dallapiccola, Bruno, Tartaglia, Marco

Hae kokoteksti Hae kokoteksti Hae kokoteksti

A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing Tekijä Macchiaiolo, Marina, Barresi, Sabina, Cecconi, Francesco, Zanni, Ginevra, Niceta, Marcello, Bellacchio, Emanuele, Lazzarino, Giacomo, Amorini, Angela Maria, Bertini, Enrico Silvio, Rizza, Salvatore, Contardi, Benedetta, Tartaglia, Marco, Bartuli, Andrea

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Cardiac Defects and Genetic Syndromes: Old Uncertainties and New Insights Tekijä Calcagni, Giulio, Pugnaloni, Flaminia, Digilio, Maria Cristina, Unolt, Marta, Putotto, Carolina, Niceta, Marcello, Baban, Anwar, Piceci Sparascio, Francesca, Drago, Fabrizio, De Luca, Alessandro, Tartaglia, Marco, Marino, Bruno, Versacci, Paolo

Hae kokoteksti Hae kokoteksti Hae kokoteksti

A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome Tekijä Caputo, Viviana, Cianetti, Luciano, Niceta, Marcello, Carta, Claudio, Ciolfi, Andrea, Bocchinfuso, Gianfranco, Carrani, Eugenio, Dentici, Maria Lisa, Biamino, Elisa, Belligni, Elga, Garavelli, Livia, Boccone, Loredana, Melis, Daniela, Andria, Generoso, Gelb, Bruce D., Stella, Lorenzo, Silengo, Margherita, Dallapiccola, Bruno, Tartaglia, Marco

Hae kokoteksti Hae kokoteksti Hae kokoteksti

A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl(−)/H(+)-Exchanger, Causes Early-Onset Neurodegeneration Tekijä Polovitskaya, Maya M., Barbini, Carlo, Martinelli, Diego, Harms, Frederike L., Cole, F. Sessions, Calligari, Paolo, Bocchinfuso, Gianfranco, Stella, Lorenzo, Ciolfi, Andrea, Niceta, Marcello, Rizza, Teresa, Shinawi, Marwan, Sisco, Kathleen, Johannsen, Jessika, Denecke, Jonas, Carrozzo, Rosalba, Wegner, Daniel J., Kutsche, Kerstin, Tartaglia, Marco, Jentsch, Thomas J.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum Tekijä Contrò, Gianluca, Micalizzi, Alessia, Giangiobbe, Sara, Caraffi, Stefano Giuseppe, Zuntini, Roberta, Rosato, Simonetta, Pollazzon, Marzia, Terracciano, Alessandra, Napoli, Manuela, Rizzi, Susanna, Salerno, Grazia Gabriella, Radio, Francesca Clementina, Niceta, Marcello, Parrini, Elena, Fusco, Carlo, Gargano, Giancarlo, Guerrini, Renzo, Tartaglia, Marco, Novelli, Antonio, Zuffardi, Orsetta, Garavelli, Livia

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations Tekijä Nasca, Alessia, Rizza, Teresa, Doimo, Mara, Legati, Andrea, Ciolfi, Andrea, Diodato, Daria, Calderan, Cristina, Carrara, Gianfranco, Lamantea, Eleonora, Aiello, Chiara, Di Nottia, Michela, Niceta, Marcello, Lamperti, Costanza, Ardissone, Anna, Bianchi-Marzoli, Stefania, Iarossi, Giancarlo, Bertini, Enrico, Moroni, Isabella, Tartaglia, Marco, Salviati, Leonardo, Carrozzo, Rosalba, Ghezzi, Daniele

Hae kokoteksti Hae kokoteksti Hae kokoteksti

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy Tekijä Sferra, Antonella, Baillat, Gilbert, Rizza, Teresa, Barresi, Sabina, Flex, Elisabetta, Tasca, Giorgio, D’Amico, Adele, Bellacchio, Emanuele, Ciolfi, Andrea, Caputo, Viviana, Cecchetti, Serena, Torella, Annalaura, Zanni, Ginevra, Diodato, Daria, Piermarini, Emanuela, Niceta, Marcello, Coppola, Antonietta, Tedeschi, Enrico, Martinelli, Diego, Dionisi-Vici, Carlo, Nigro, Vincenzo, Dallapiccola, Bruno, Compagnucci, Claudia, Tartaglia, Marco, Haase, Georg, Bertini, Enrico

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile Tekijä Ciolfi, Andrea, Foroutan, Aidin, Capuano, Alessandro, Pedace, Lucia, Travaglini, Lorena, Pizzi, Simone, Andreani, Marco, Miele, Evelina, Invernizzi, Federica, Reale, Chiara, Panteghini, Celeste, Iascone, Maria, Niceta, Marcello, Gavrilova, Ralitza H., Schultz-Rogers, Laura, Agolini, Emanuele, Bedeschi, Maria Francesca, Prontera, Paolo, Garibaldi, Matteo, Galosi, Serena, Leuzzi, Vincenzo, Soliveri, Paola, Olson, Rory J., Zorzi, Giovanna S., Garavaglia, Barbara M., Tartaglia, Marco, Sadikovic, Bekim

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Expanding the KIF4A ‐associated phenotype Tekijä Kalantari, Silvia, Carlston, Colleen, Alsaleh, Norah, Abdel‐Salam, Ghada M. H., Alkuraya, Fowzan, Kato, Mitsuhiro, Matsumoto, Naomichi, Miyatake, Satoko, Yamamoto, Tatsuya, Fares‐Taie, Lucas, Rozet, Jean‐Michel, Chassaing, Nicolas, Vincent‐Delorme, Catherine, Kang‐Bellin, Anjeung, McWalter, Kirsty, Bupp, Caleb, Palen, Emily, Wagner, Monisa D., Niceta, Marcello, Cesario, Claudia, Milone, Roberta, Kaplan, Julie, Wadman, Erin, Dobyns, William B., Filges, Isabel

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome Tekijä Foroutan, Aidin, Haghshenas, Sadegheh, Bhai, Pratibha, Levy, Michael A., Kerkhof, Jennifer, McConkey, Haley, Niceta, Marcello, Ciolfi, Andrea, Pedace, Lucia, Miele, Evelina, Genevieve, David, Heide, Solveig, Alders, Mariëlle, Zampino, Giuseppe, Merla, Giuseppe, Fradin, Mélanie, Bieth, Eric, Bonneau, Dominique, Dieterich, Klaus, Fergelot, Patricia, Schaefer, Elise, Faivre, Laurence, Vitobello, Antonio, Maitz, Silvia, Fischetto, Rita, Gervasini, Cristina, Piccione, Maria, van de Laar, Ingrid, Tartaglia, Marco, Sadikovic, Bekim, Lebre, Anne-Sophie

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies Tekijä Niceta, Marcello, Stellacci, Emilia, Gripp, Karen W., Zampino, Giuseppe, Kousi, Maria, Anselmi, Massimiliano, Traversa, Alice, Ciolfi, Andrea, Stabley, Deborah, Bruselles, Alessandro, Caputo, Viviana, Cecchetti, Serena, Prudente, Sabrina, Fiorenza, Maria T., Boitani, Carla, Philip, Nicole, Niyazov, Dmitriy, Leoni, Chiara, Nakane, Takaya, Keppler-Noreuil, Kim, Braddock, Stephen R., Gillessen-Kaesbach, Gabriele, Palleschi, Antonio, Campeau, Philippe M., Lee, Brendan H.L., Pouponnot, Celio, Stella, Lorenzo, Bocchinfuso, Gianfranco, Katsanis, Nicholas, Sol-Church, Katia, Tartaglia, Marco

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy Tekijä Flex, Elisabetta, Niceta, Marcello, Cecchetti, Serena, Thiffault, Isabelle, Au, Margaret G., Capuano, Alessandro, Piermarini, Emanuela, Ivanova, Anna A., Francis, Joshua W., Chillemi, Giovanni, Chandramouli, Balasubramanian, Carpentieri, Giovanna, Haaxma, Charlotte A., Ciolfi, Andrea, Pizzi, Simone, Douglas, Ganka V., Levine, Kara, Sferra, Antonella, Dentici, Maria Lisa, Pfundt, Rolph R., Le Pichon, Jean-Baptiste, Farrow, Emily, Baas, Frank, Piemonte, Fiorella, Dallapiccola, Bruno, Graham, John M., Saunders, Carol J., Bertini, Enrico, Kahn, Richard A., Koolen, David A., Tartaglia, Marco

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Rare and de novo coding variants in chromodomain genes in Chiari I malformation Tekijä Sadler, Brooke, Wilborn, Jackson, Antunes, Lilian, Kuensting, Timothy, Hale, Andrew T., Gannon, Stephen R., McCall, Kevin, Cruchaga, Carlos, Harms, Matthew, Voisin, Norine, Reymond, Alexandre, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Tartaglia, Marco, Niceta, Marcello, Leoni, Chiara, Zampino, Giuseppe, Ashley-Koch, Allison, Urbizu, Aintzane, Garrett, Melanie E., Soldano, Karen, Macaya, Alfons, Conrad, Donald, Strahle, Jennifer, Dobbs, Matthew B., Turner, Tychele N., Shannon, Chevis N., Brockmeyer, Douglas, Limbrick, David D., Gurnett, Christina A., Haller, Gabe

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Rare and de novo coding variants in chromodomain genes in Chiari I malformation Tekijä Sadler, Brooke, Wilborn, Jackson, Antunes, Lilian, Kuensting, Timothy, Hale, Andrew T., Gannon, Stephen R., McCall, Kevin, Cruchaga, Carlos, Harms, Matthew, Voisin, Norine, Reymond, Alexandre, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Tartaglia, Marco, Niceta, Marcello, Leoni, Chiara, Zampino, Giuseppe, Ashley-Koch, Allison, Urbizu, Aintzane, Garrett, Melanie E., Soldano, Karen, Macaya, Alfons, Conrad, Donald, Strahle, Jennifer, Dobbs, Matthew B., Turner, Tychele N., Shannon, Chevis N., Brockmeyer, Douglas, Limbrick, David D., Gurnett, Christina A., Haller, Gabe

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Rare and de novo coding variants in chromodomain genes in Chiari I malformation Tekijä Sadler, Brooke, Wilborn, Jackson, Antunes, Lilian, Kuensting, Timothy, Hale, Andrew T., Gannon, Stephen R., McCall, Kevin, Cruchaga, Carlos, Harms, Matthew, Voisin, Norine, Reymond, Alexandre, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Tartaglia, Marco, Niceta, Marcello, Leoni, Chiara, Zampino, Giuseppe, Ashley-Koch, Allison, Urbizu, Aintzane, Garrett, Melanie E., Soldano, Karen, Macaya, Alfons, Conrad, Donald, Strahle, Jennifer, Dobbs, Matthew B., Turner, Tychele N., Shannon, Chevis N., Brockmeyer, Douglas, Limbrick, David D., Gurnett, Christina A., Haller, Gabe

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with “Corner Fractures” Tekijä Lee, Chae Syng, Fu, He, Baratang, Nissan, Rousseau, Justine, Kumra, Heena, Sutton, V. Reid, Niceta, Marcello, Ciolfi, Andrea, Yamamoto, Guilherme, Bertola, Débora, Marcelis, Carlo L., Lugtenberg, Dorien, Bartuli, Andrea, Kim, Choel, Hoover-Fong, Julie, Sobreira, Nara, Pauli, Richard, Bacino, Carlos, Krakow, Deborah, Parboosingh, Jillian, Yap, Patrick, Kariminejad, Ariana, McDonald, Marie T., Aracena, Mariana I., Lausch, Ekkehart, Unger, Sheila, Superti-Furga, Andrea, Lu, James T., Cohn, Dan H., Tartaglia, Marco, Lee, Brendan H., Reinhardt, Dieter P., Campeau, Philippe M.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder Tekijä Snijders Blok, Lot, Kleefstra, Tjitske, Venselaar, Hanka, Maas, Saskia, Kroes, Hester Y., Lachmeijer, Augusta M.A., van Gassen, Koen L.I., Firth, Helen V., Tomkins, Susan, Bodek, Simon, Õunap, Katrin, Wojcik, Monica H., Cunniff, Christopher, Bergstrom, Katherine, Powis, Zoë, Tang, Sha, Shinde, Deepali N., Au, Catherine, Iglesias, Alejandro D., Izumi, Kosuke, Leonard, Jacqueline, Abou Tayoun, Ahmad, Baker, Samuel W., Tartaglia, Marco, Niceta, Marcello, Dentici, Maria Lisa, Okamoto, Nobuhiko, Miyake, Noriko, Matsumoto, Naomichi, Vitobello, Antonio, Faivre, Laurence, Philippe, Christophe, Gilissen, Christian, Wiel, Laurens, Pfundt, Rolph, Deriziotis, Pelagia, Brunner, Han G., Fisher, Simon E.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy Tekijä Nguyen, Thi Tuyet Mai, Murakami, Yoshiko, Mobilio, Sabrina, Niceta, Marcello, Zampino, Giuseppe, Philippe, Christophe, Moutton, Sébastien, Zaki, Maha S., James, Kiely N., Musaev, Damir, Mu, Weiyi, Baranano, Kristin, Nance, Jessica R., Rosenfeld, Jill A., Braverman, Nancy, Ciolfi, Andrea, Millan, Francisca, Person, Richard E., Bruel, Ange-Line, Thauvin-Robinet, Christel, Ververi, Athina, DeVile, Catherine, Male, Alison, Efthymiou, Stephanie, Maroofian, Reza, Houlden, Henry, Maqbool, Shazia, Rahman, Fatima, Baratang, Nissan V., Rousseau, Justine, St-Denis, Anik, Elrick, Matthew J., Anselm, Irina, Rodan, Lance H., Tartaglia, Marco, Gleeson, Joseph, Kinoshita, Taroh, Campeau, Philippe M.

Hae kokoteksti Hae kokoteksti Hae kokoteksti

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling Tekijä Lin, Yuh-Charn, Niceta, Marcello, Muto, Valentina, Vona, Barbara, Pagnamenta, Alistair T., Maroofian, Reza, Beetz, Christian, van Duyvenvoorde, Hermine, Dentici, Maria Lisa, Lauffer, Peter, Vallian, Sadeq, Ciolfi, Andrea, Pizzi, Simone, Bauer, Peter, Grüning, Nana-Maria, Bellacchio, Emanuele, Del Fattore, Andrea, Petrini, Stefania, Shaheen, Ranad, Tiosano, Dov, Halloun, Rana, Pode-Shakked, Ben, Albayrak, Hatice Mutlu, Işık, Emregül, Wit, Jan M., Dittrich, Marcus, Freire, Bruna L., Bertola, Debora R., Jorge, Alexander A.L., Barel, Ortal, Sabir, Ataf H., Al Tenaiji, Amal M.J., Taji, Sulaima M., Al-Sannaa, Nouriya, Al-Abdulwahed, Hind, Digilio, Maria Cristina, Irving, Melita, Anikster, Yair, Bhavani, Gandham S.L., Girisha, Katta M., Haaf, Thomas, Taylor, Jenny C., Dallapiccola, Bruno, Alkuraya, Fowzan S., Yang, Ruey-Bing, Tartaglia, Marco

Hae kokoteksti Hae kokoteksti Hae kokoteksti