Microcephaly with Simplified Gyration, Epilepsy, and Infantile Diabetes Linked to Inappropriate Apoptosis of Neural Progenitors

Por Poulton, Cathryn J., Schot, Rachel, Kia, Sima Kheradmand, Jones, Marta, Verheijen, Frans W., Venselaar, Hanka, de Wit, Marie-Claire Y., de Graaff, Esther, Bertoli-Avella, Aida M., Mancini, Grazia M.S.
Publicado em 2011

The clinical spectrum of complete FBN1 allele deletions

Por Hilhorst-Hofstee, Yvonne, Hamel, Ben CJ, Verheij, Joke BGM, Rijlaarsdam, Marry EB, Mancini, Grazia MS, Cobben, Jan M, Giroth, Cindy, Ruivenkamp, Claudia AL, Hansson, Kerstin BM, Timmermans, Janneke, Moll, Henriette A, Breuning, Martijn H, Pals, Gerard
Publicado em 2011

XRCC1 Mutation is Associated with PARP1 Hyperactivation and Cerebellar Ataxia

Por Hoch, Nicolas, Hanzlikova, Hana, Rulten, Stuart L., Tétreault, Martine, Koumulainen, Emilia, Ju, Limei, Hornyak, Peter, Zeng, Zhihong, Gittens, William, Rey, Stephanie, Staras, Kevin, Mancini, Grazia M.S., McKinnon, Peter J., Wang, Zhao-Qi, Wagner, Justin, Yoon, Grace, Caldecott, Keith W.
Publicado no Nature (2016)

COL4A2 mutation associated with familial porencephaly and small-vessel disease

Por Verbeek, Elly, Meuwissen, Marije EC, Verheijen, Frans W, Govaert, Paul P, Licht, Daniel J, Kuo, Debbie S, Poulton, Cathryn J, Schot, Rachel, Lequin, Maarten H, Dudink, Jeroen, Halley, Dicky J, de Coo, René IF, den Hollander, Jan C, Oegema, Renske, Gould, Douglas B, Mancini, Grazia MS
Publicado em 2012

RTTN Mutations Link Primary Cilia Function to Organization of the Human Cerebral Cortex

Por Kheradmand Kia, Sima, Verbeek, Elly, Engelen, Erik, Schot, Rachel, Poot, Raymond A., de Coo, Irenaeus F.M., Lequin, Maarten H., Poulton, Cathryn J., Pourfarzad, Farzin, Grosveld, Frank G., Brehm, António, de Wit, Marie Claire Y., Oegema, Renske, Dobyns, William B., Verheijen, Frans W., Mancini, Grazia M.S.
Publicado em 2012

USP18 lack in microglia causes destructive interferonopathy of the mouse brain

Por Goldmann, Tobias, Zeller, Nicolas, Raasch, Jenni, Kierdorf, Katrin, Frenzel, Kathrin, Ketscher, Lars, Basters, Anja, Staszewski, Ori, Brendecke, Stefanie M, Spiess, Alena, Tay, Tuan Leng, Kreutz, Clemens, Timmer, Jens, Mancini, Grazia MS, Blank, Thomas, Fritz, Günter, Biber, Knut, Lang, Roland, Malo, Danielle, Merkler, Doron, Heikenwälder, Mathias, Knobeloch, Klaus-Peter, Prinz, Marco
Publicado no EMBO J (2015)

Unbalanced der(5)t(5;20) translocation associated with Megalencephaly, perisylvian Polymicrogyria, Polydactyly and Hydrocephalus

Por Verkerk, Annemieke J.M.H., Schot, Rachel, van Waterschoot, Laura, Douben, Hannie, Poddighe, Pino J., Lequin, Maarten H., de Vries, Linda S., Terhal, Paulien, Hahnemann, Johanne M.D., de Coo, Irenaeus F.M., de Wit, Marie-Claire Y., Wafelman, Leontien S., Garavelli, Livia, Dobyns, William B., Van der Spek, Peter J., de Klein, Annelies, Mancini, Grazia M.S.
Publicado em 2010

Mutation in the AP4M1 Gene Provides a Model for Neuroaxonal Injury in Cerebral Palsy

Por Verkerk, Annemieke J.M.H., Schot, Rachel, Dumee, Belinda, Schellekens, Karlijn, Swagemakers, Sigrid, Bertoli-Avella, Aida M., Lequin, Maarten H., Dudink, Jeroen, Govaert, Paul, van Zwol, A.L., Hirst, Jennifer, Wessels, Marja W., Catsman-Berrevoets, Coriene, Verheijen, Frans W., de Graaff, Esther, de Coo, Irenaeus F.M., Kros, Johan M., Willemsen, Rob, Willems, Patrick J., van der Spek, Peter J., Mancini, Grazia M.S.
Publicado em 2009

Germline BRAF mutations in Noonan, LEOPARD and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum

Por Sarkozy, Anna, Carta, Claudio, Moretti, Sonia, Zampino, Giuseppe, Digilio, Maria C., Pantaleoni, Francesca, Scioletti, Anna Paola, Esposito, Giorgia, Cordeddu, Viviana, Lepri, Francesca, Petrangeli, Valentina, Dentici, Maria L., Mancini, Grazia M.S., Selicorni, Angelo, Rossi, Cesare, Mazzanti, Laura, Marino, Bruno, Ferrero, Giovanni B., Silengo, Margherita Cirillo, Memo, Luigi, Stanzial, Franco, Faravelli, Francesca, Stuppia, Liborio, Puxeddu, Efisio, Gelb, Bruce D., Dallapiccola, Bruno, Tartaglia, Marco
Publicado em 2009

Expanding the Phenotype Associated with NAA10‐Related N‐Terminal Acetylation Deficiency

Por Saunier, Chloé, Støve, Svein Isungset, Popp, Bernt, Gérard, Bénédicte, Blenski, Marina, AhMew, Nicholas, de Bie, Charlotte, Goldenberg, Paula, Isidor, Bertrand, Keren, Boris, Leheup, Bruno, Lampert, Laetitia, Mignot, Cyril, Tezcan, Kamer, Mancini, Grazia M.S., Nava, Caroline, Wasserstein, Melissa, Bruel, Ange‐Line, Thevenon, Julien, Masurel, Alice, Duffourd, Yannis, Kuentz, Paul, Huet, Frédéric, Rivière, Jean‐Baptiste, van Slegtenhorst, Marjon, Faivre, Laurence, Piton, Amélie, Reis, André, Arnesen, Thomas, Thauvin‐Robinet, Christel, Zweier, Christiane
Publicado no Hum Mutat (2016)

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome

Por Meuwissen, Marije E.C., Schot, Rachel, Buta, Sofija, Oudesluijs, Grétel, Tinschert, Sigrid, Speer, Scott D., Li, Zhi, van Unen, Leontine, Heijsman, Daphne, Goldmann, Tobias, Lequin, Maarten H., Kros, Johan M., Stam, Wendy, Hermann, Mark, Willemsen, Rob, Brouwer, Rutger W.W., Van IJcken, Wilfred F.J., Martin-Fernandez, Marta, de Coo, Irenaeus, Dudink, Jeroen, de Vries, Femke A.T., Bertoli Avella, Aida, Prinz, Marco, Crow, Yanick J., Verheijen, Frans W., Pellegrini, Sandra, Bogunovic, Dusan, Mancini, Grazia M.S.
Publicado no J Exp Med (2016)

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

Por Mirzaa, Ghayda, Parry, David A, Fry, Andrew E, Giamanco, Kristin A, Schwartzentruber, Jeremy, Vanstone, Megan, Logan, Clare V, Roberts, Nicola, Johnson, Colin A, Singh, Shawn, Kholmanskikh, Stanislav S, Adams, Carissa, Hodge, Rebecca D., Hevner, Robert F., Bonthron, David T, Braun, Kees P.J., Faivre, Laurence, Rivière, Jean-Baptiste, St-Onge, Judith, Gripp, Karen W, Mancini, Grazia MS, Pang, Ki, Sweeney, Elizabeth, van Esch, Hilde, Verbeek, Nienke, Wieczorek, Dagmar, Steinraths, Michelle, Majewski, Jacek, Boycot, Kym M, Pilz, Daniela T., Ross, M. Elizabeth, Dobyns, William B., Sheridan, Eamonn G.
Publicado em 2014

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Por Roscioli, Tony, Kamsteeg, Erik-Jan, Buysse, Karen, Maystadt, Isabelle, van Reeuwijk, Jeroen, van den Elzen, Christa, van Beusekom, Ellen, Riemersma, Moniek, Pfundt, Rolph, Vissers, Lisenka E.L.M., Schraders, Margit, Altunoglu, Umut, Buckley, Michael F., Brunner, Han G., Grisart, Bernard, Zhou, Huiqing, Veltman, Joris A., Gilissen, Christian, Mancini, Grazia M.S., Delrée, Paul, Willemsen, Michèl A., Ramadža, Danijela Petković, Chitayat, David, Bennett, Christopher, Sheridan, Eamonn, Peeters, Els A.J., Tan-Sindhunata, Gita M.B., de Die-Smulders, Christine E., Devriendt, Koenraad, Kayserili, Hülya, El-Hashash, Osama Abd El-Fattah, Stemple, Derek L., Lefeber, Dirk J., Lin, Yung-Yao, van Bokhoven, Hans
Publicado em 2012