Oligophrenin-1 (OPHN1), a Gene Involved in X-Linked Intellectual Disability, Undergoes RNA Editing and Alternative Splicing during Human Brain Development

Yazar: Barresi, Sabina, Tomaselli, Sara, Athanasiadis, Alekos, Galeano, Federica, Locatelli, Franco, Bertini, Enrico, Zanni, Ginevra, Gallo, Angela
Baskı/Yayın Bilgisi 2014

Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell-Derived Neurons With Oligophrenin-1 Loss of Fu...

Yazar: Compagnucci, Claudia, Barresi, Sabina, Petrini, Stefania, Billuart, Pierre, Piccini, Giorgia, Chiurazzi, Pietro, Alfieri, Paolo, Bertini, Enrico, Zanni, Ginevra
Yayımlandı Stem Cells Transl Med (2016)

Mutation of plasma membrane Ca(2+) ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca(2+) homeostasis

Yazar: Zanni, Ginevra, Calì, Tito, Kalscheuer, Vera M., Ottolini, Denis, Barresi, Sabina, Lebrun, Nicolas, Montecchi-Palazzi, Luisa, Hu, Hao, Chelly, Jamel, Bertini, Enrico, Brini, Marisa, Carafoli, Ernesto
Baskı/Yayın Bilgisi 2012

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome

Yazar: Dentici, Maria Lisa, Barresi, Sabina, Nardella, Marta, Bellacchio, Emanuele, Alfieri, Paolo, Bruselles, Alessandro, Pantaleoni, Francesca, Danieli, Alberto, Iarossi, Giancarlo, Cappa, Marco, Bertini, Enrico, Tartaglia, Marco, Zanni, Ginevra
Yayımlandı Gene (2017)

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

Yazar: 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
Yayımlandı BMC Pediatr (2020)

A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing

Yazar: 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
Yayımlandı Ital J Pediatr (2017)

A Novel Phenotype of Junctional Epidermolysis Bullosa with Transient Skin Fragility and Predominant Ocular Involvement Responsive to Human Amniotic Membrane Eyedrops

Yazar: Castiglia, Daniele, Fortugno, Paola, Condorelli, Angelo Giuseppe, Barresi, Sabina, De Luca, Naomi, Pizzi, Simone, Neri, Iria, Graziano, Claudio, Trojan, Diletta, Ponzin, Diego, Rossi, Sabrina, Zambruno, Giovanna, Tartaglia, Marco
Yayımlandı Genes (Basel) (2021)

A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in So...

Yazar: D’Amico, Adele, Fattori, Fabiana, Nicita, Francesco, Barresi, Sabina, Tasca, Giorgio, Verardo, Margherita, Pizzi, Simone, Moroni, Isabella, De Mitri, Francesca, Frongia, Annalia, Pane, Marika, Mercuri, Eugenio, Tartaglia, Marco, Bertini, Enrico
Yayımlandı Front Genet (2020)

The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children

Yazar: Terracciano, Alessandra, Renaldo, Florence, Zanni, Ginevra, D’Amico, Adele, Pastore, Anna, Barresi, Sabina, Valente, Enza Maria, Piemonte, Fiorella, Tozzi, Giulia, Carrozzo, Rosalba, Valeriani, Massimiliano, Boldrini, Renata, Mercuri, Eugenio, Santorelli, Filippo Maria, Bertini, Enrico
Baskı/Yayın Bilgisi 2012

Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White–Sutton Syndrome: Case Report and Review of the Literature

Yazar: Trimarchi, Gabriele, Caraffi, Stefano Giuseppe, Radio, Francesca Clementina, Barresi, Sabina, Contrò, Gianluca, Pizzi, Simone, Maini, Ilenia, Pollazzon, Marzia, Fusco, Carlo, Sassi, Silvia, Nicoli, Davide, Napoli, Manuela, Pascarella, Rosario, Gargano, Giancarlo, Zuffardi, Orsetta, Tartaglia, Marco, Garavelli, Livia
Yayımlandı Genes (Basel) (2021)

Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

Yazar: Ferraris, Alessandro, Bernardini, Laura, Sabolic Avramovska, Vesna, Zanni, Ginevra, Loddo, Sara, Sukarova-Angelovska, Elena, Parisi, Valentina, Capalbo, Anna, Tumini, Stefano, Travaglini, Lorena, Mancini, Francesca, Duma, Filip, Barresi, Sabina, Novelli, Antonio, Mercuri, Eugenio, Tarani, Luigi, Bertini, Enrico, Dallapiccola, Bruno, Valente, Enza Maria
Baskı/Yayın Bilgisi 2013

Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification

Yazar: Dong, Xiaomin, Tan, Natalie B., Howell, Katherine B., Barresi, Sabina, Freeman, Jeremy L., Vecchio, Davide, Piccione, Maria, Radio, Francesca Clementina, Calame, Daniel, Zong, Shan, Eggers, Stefanie, Scheffer, Ingrid E., Tan, Tiong Y., Van Bergen, Nicole J., Tartaglia, Marco, Christodoulou, John, White, Susan M.
Yayımlandı Am J Hum Genet (2020)

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with <it>CASK </it>mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

Yazar: Burglen Lydie, Chantot-Bastaraud Sandra, Garel Catherine, Milh Mathieu, Touraine Renaud, Zanni Ginevra, Petit Florence, Afenjar Alexandra, Goizet Cyril, Barresi Sabina, Coussement Aurélie, Ioos Christine, Lazaro Leila, Joriot Sylvie, Desguerre Isabelle, Lacombe Didier, des Portes Vincent, Bertini Enrico, Siffroi Jean-Pierre, Billette de Villemeur Thierry, Rodriguez Diana
Baskı/Yayın Bilgisi 2012-03-01

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

Yazar: Burglen, Lydie, Chantot-Bastaraud, Sandra, Garel, Catherine, Milh, Mathieu, Touraine, Renaud, Zanni, Ginevra, Petit, Florence, Afenjar, Alexandra, Goizet, Cyril, Barresi, Sabina, Coussement, Aurélie, Ioos, Christine, Lazaro, Leila, Joriot, Sylvie, Desguerre, Isabelle, Lacombe, Didier, des Portes, Vincent, Bertini, Enrico, Siffroi, Jean-Pierre, Billette de Villemeur, Thierry, Rodriguez, Diana
Baskı/Yayın Bilgisi 2012

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy

Yazar: 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
Yayımlandı Am J Hum Genet (2016)

Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

Yazar: Bauer, Christiane K., Calligari, Paolo, Radio, Francesca Clementina, Caputo, Viviana, Dentici, Maria Lisa, Falah, Nadia, High, Frances, Pantaleoni, Francesca, Barresi, Sabina, Ciolfi, Andrea, Pizzi, Simone, Bruselles, Alessandro, Person, Richard, Richards, Sarah, Cho, Megan T., Claps Sepulveda, Daniela J., Pro, Stefano, Battini, Roberta, Zampino, Giuseppe, Digilio, Maria Cristina, Bocchinfuso, Gianfranco, Dallapiccola, Bruno, Stella, Lorenzo, Tartaglia, Marco
Yayımlandı Am J Hum Genet (2018)

CHK1-targeted therapy to deplete DNA replication-stressed, p53-deficient, hyperdiploid colorectal cancer stem cells

Yazar: Manic, Gwenola, Signore, Michele, Sistigu, Antonella, Russo, Giorgio, Corradi, Francesca, Siteni, Silvia, Musella, Martina, Vitale, Sara, De Angelis, Maria Laura, Pallocca, Matteo, Amoreo, Carla Azzurra, Sperati, Francesca, Di Franco, Simone, Barresi, Sabina, Policicchio, Eleonora, De Luca, Gabriele, De Nicola, Francesca, Mottolese, Marcella, Zeuner, Ann, Fanciulli, Maurizio, Stassi, Giorgio, Maugeri-Saccà, Marcello, Baiocchi, Marta, Tartaglia, Marco, Vitale, Ilio, De Maria, Ruggero
Yayımlandı Gut (2018)

CD28.OX40 co-stimulatory combination is associated with long in vivo persistence and high activity of CAR.CD30 T cells

Yazar: Guercio, Marika, Orlando, Domenico, Di Cecca, Stefano, Sinibaldi, Matilde, Boffa, Iolanda, Caruso, Simona, Abbaszadeh, Zeinab, Camera, Antonio, Cembrola, Biancamaria, Bovetti, Katia, Manni, Simona, Caruana, Ignazio, Ciccone, Roselia, Del Bufalo, Francesca, Merli, Pietro, Vinti, Luciana, Girardi, Katia, Ruggeri, Annalisa, De Stefanis, Cristiano, Pezzullo, Marco, Giorda, Ezio, Scarsella, Marco, De Vito, Rita, Barresi, Sabina, Ciolfi, Andrea, Tartaglia, Marco, Moretta, Lorenzo, Locatelli, Franco, Quintarelli, Concetta, De Angelis, Biagio
Yayımlandı Haematologica (2020)

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

Yazar: Hengel, Holger, Bosso-Lefèvre, Célia, Grady, George, Szenker-Ravi, Emmanuelle, Li, Hankun, Pierce, Sarah, Lebigot, Élise, Tan, Thong-Teck, Eio, Michelle Y., Narayanan, Gunaseelan, Utami, Kagistia Hana, Yau, Monica, Handal, Nader, Deigendesch, Werner, Keimer, Reinhard, Marzouqa, Hiyam M., Gunay-Aygun, Meral, Muriello, Michael J., Verhelst, Helene, Weckhuysen, Sarah, Mahida, Sonal, Naidu, Sakkubai, Thomas, Terrence G., Lim, Jiin Ying, Tan, Ee Shien, Haye, Damien, Willemsen, Michèl A. A. P., Oegema, Renske, Mitchell, Wendy G., Pierson, Tyler Mark, Andrews, Marisa V., Willing, Marcia C., Rodan, Lance H., Barakat, Tahsin Stefan, van Slegtenhorst, Marjon, Gavrilova, Ralitza H., Martinelli, Diego, Gilboa, Tal, Tamim, Abdullah M., Hashem, Mais O., AlSayed, Moeenaldeen D., Abdulrahim, Maha M., Al-Owain, Mohammed, Awaji, Ali, Mahmoud, Adel A. H., Faqeih, Eissa A., Asmari, Ali Al, Algain, Sulwan M., Jad, Lamyaa A., Aldhalaan, Hesham M., Helbig, Ingo, Koolen, David A., Riess, Angelika, Kraegeloh-Mann, Ingeborg, Bauer, Peter, Gulsuner, Suleyman, Stamberger, Hannah, Ng, Alvin Yu Jin, Tang, Sha, Tohari, Sumanty, Keren, Boris, Schultz-Rogers, Laura E., Klee, Eric W., Barresi, Sabina, Tartaglia, Marco, Mor-Shaked, Hagar, Maddirevula, Sateesh, Begtrup, Amber, Telegrafi, Aida, Pfundt, Rolph, Schüle, Rebecca, Ciruna, Brian, Bonnard, Carine, Pouladi, Mahmoud A., Stewart, James C., Claridge-Chang, Adam, Lefeber, Dirk J., Alkuraya, Fowzan S., Mathuru, Ajay S., Venkatesh, Byrappa, Barycki, Joseph J., Simpson, Melanie A., Jamuar, Saumya S., Schöls, Ludger, Reversade, Bruno
Yayımlandı Nat Commun (2020)

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Yazar: Bryant, Laura, Li, Dong, Cox, Samuel G., Marchione, Dylan, Joiner, Evan F., Wilson, Khadija, Janssen, Kevin, Lee, Pearl, March, Michael E., Nair, Divya, Sherr, Elliott, Fregeau, Brieana, Wierenga, Klaas J., Wadley, Alexandrea, Mancini, Grazia M. S., Powell-Hamilton, Nina, van de Kamp, Jiddeke, Grebe, Theresa, Dean, John, Ross, Alison, Crawford, Heather P., Powis, Zoe, Cho, Megan T., Willing, Marcia C., Manwaring, Linda, Schot, Rachel, Nava, Caroline, Afenjar, Alexandra, Lessel, Davor, Wagner, Matias, Klopstock, Thomas, Winkelmann, Juliane, Catarino, Claudia B., Retterer, Kyle, Schuette, Jane L., Innis, Jeffrey W., Pizzino, Amy, Lüttgen, Sabine, Denecke, Jonas, Strom, Tim M., Monaghan, Kristin G., Yuan, Zuo-Fei, Dubbs, Holly, Bend, Renee, Lee, Jennifer A., Lyons, Michael J., Hoefele, Julia, Günthner, Roman, Reutter, Heiko, Keren, Boris, Radtke, Kelly, Sherbini, Omar, Mrokse, Cameron, Helbig, Katherine L., Odent, Sylvie, Cogne, Benjamin, Mercier, Sandra, Bezieau, Stephane, Besnard, Thomas, Kury, Sebastien, Redon, Richard, Reinson, Karit, Wojcik, Monica H., Õunap, Katrin, Ilves, Pilvi, Innes, A. Micheil, Kernohan, Kristin D., Costain, Gregory, Meyn, M. Stephen, Chitayat, David, Zackai, Elaine, Lehman, Anna, Kitson, Hilary, Martin, Martin G., Martinez-Agosto, Julian A., Nelson, Stan F., Palmer, Christina G. S., Papp, Jeanette C., Parker, Neil H., Sinsheimer, Janet S., Vilain, Eric, Wan, Jijun, Yoon, Amanda J., Zheng, Allison, Brimble, Elise, Ferrero, Giovanni Battista, Radio, Francesca Clementina, Carli, Diana, Barresi, Sabina, Brusco, Alfredo, Tartaglia, Marco, Thomas, Jennifer Muncy, Umana, Luis, Weiss, Marjan M., Gotway, Garrett, Stuurman, K. E., Thompson, Michelle L., McWalter, Kirsty, Stumpel, Constance T. R. M., Stevens, Servi J. C., Stegmann, Alexander P. A., Tveten, Kristian, Vøllo, Arve, Prescott, Trine, Fagerberg, Christina, Laulund, Lone Walentin, Larsen, Martin J., Byler, Melissa, Lebel, Robert Roger, Hurst, Anna C., Dean, Joy, Schrier Vergano, Samantha A., Norman, Jennifer, Mercimek-Andrews, Saadet, Neira, Juanita, Van Allen, Margot I., Longo, Nicola, Sellars, Elizabeth, Louie, Raymond J., Cathey, Sara S., Brokamp, Elly, Heron, Delphine, Snyder, Molly, Vanderver, Adeline, Simon, Celeste, de la Cruz, Xavier, Padilla, Natália, Crump, J. Gage, Chung, Wendy, Garcia, Benjamin, Hakonarson, Hakon H., Bhoj, Elizabeth J.
Yayımlandı Sci Adv (2020)