Mutations in a Gene Encoding a Novel Protein Containing a Phosphotyrosine-Binding Domain Cause Type 2 Cerebral Cavernous Malformations
Liquori, Christina L., Berg, Michel J., Siegel, Adrian M., Huang, Elizabeth, Zawistowski, Jon S., Stoffer, T’Prien, Verlaan, Dominique, Balogun, Fiyinfolu, Hughes, Lori, Leedom, Tracey P., Plummer, Nicholas W., Cannella, Milena, Maglione, Vittorio, Squitieri, Ferdinando, Johnson, Eric W., Rouleau, Guy A., Ptacek, Louis, Marchuk, Douglas A.
Published in American journal of human genetics (01.12.2003)
Published in American journal of human genetics (01.12.2003)
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Journal Article
Myotonic Dystrophy Type 2: Human Founder Haplotype and Evolutionary Conservation of the Repeat Tract
Liquori, Christina L., Ikeda, Yoshio, Weatherspoon, Marcy, Ricker, Kenneth, Schoser, Benedikt G.H., Dalton, Joline C., Day, John W., Ranum, Laura P.W.
Published in American journal of human genetics (01.10.2003)
Published in American journal of human genetics (01.10.2003)
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Journal Article
Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of ZNF9
Liquori, Christina L., Ricker, Kenneth, Moseley, Melinda L., Jacobsen, Jennifer F., Kress, Wolfram, Naylor, Susan L., Day, John W., Laura P. W. Ranum
Published in Science (American Association for the Advancement of Science) (03.08.2001)
Published in Science (American Association for the Advancement of Science) (03.08.2001)
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Journal Article
Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus
Liquori, Christina L., Berg, Michel J., Squitieri, Ferdinando, Ottenbacher, Monica, Sorlie, Marielle, Leedom, Tracey P., Cannella, Milena, Maglione, Vittorio, Ptacek, Louis, Johnson, Eric W., Marchuk, Douglas A.
Published in Human mutation (01.01.2006)
Published in Human mutation (01.01.2006)
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Journal Article
Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations
Gianfrancesco, Fernando, Cannella, Milena, Martino, Tiziana, Maglione, Vittorio, Esposito, Teresa, Innocenzi, Gualtiero, Vitale, Emilia, Liquori, Christina L., Marchuk, Douglas A., Squitieri, Ferdinando
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (05.07.2007)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (05.07.2007)
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Journal Article
Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts
Liquori, Christina L., Penco, Silvana, Gault, Judith, Leedom, Tracey P., Tassi, Laura, Esposito, Teresa, Awad, Issam A., Frati, Luigi, Johnson, Eric W., Squitieri, Ferdinando, Marchuk, Douglas A., Gianfrancesco, Fernando
Published in Neurogenetics (01.02.2008)
Published in Neurogenetics (01.02.2008)
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Journal Article
CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations
Verlaan, Dominique J., Laurent, Sandra B., Rochefort, Daniel L., Liquori, Christina L., Marchuk, Douglas A., Siegel, Adrian M., Rouleau, Guy A.
Published in Annals of neurology (01.05.2004)
Published in Annals of neurology (01.05.2004)
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