Search Results - "Liquori, Christina L."

Mutations in a Gene Encoding a Novel Protein Containing a Phosphotyrosine-Binding Domain Cause Type 2 Cerebral Cavernous Malformations by 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.

“…Cerebral cavernous malformations (CCMs) are congenital vascular anomalies of the central nervous system that can result in hemorrhagic stroke, seizures,…”
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Myotonic Dystrophy Type 2: Human Founder Haplotype and Evolutionary Conservation of the Repeat Tract by Liquori, Christina L., Ikeda, Yoshio, Weatherspoon, Marcy, Ricker, Kenneth, Schoser, Benedikt G.H., Dalton, Joline C., Day, John W., Ranum, Laura P.W.

“…Myotonic dystrophy (DM), the most common form of muscular dystrophy in adults, can be caused by a mutation on either chromosome 19 (DM1) or 3 (DM2). In 2001,…”
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Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of ZNF9 by Liquori, Christina L., Ricker, Kenneth, Moseley, Melinda L., Jacobsen, Jennifer F., Kress, Wolfram, Naylor, Susan L., Day, John W., Laura P. W. Ranum

“…Myotonic dystrophy (DM), the most common form of muscular dystrophy in adults, can be caused by a mutation on either chromosome 19q13 (DM1) or 3q21…”
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Deletions in CCM2 Are a Common Cause of Cerebral Cavernous Malformations by Liquori, Christina L., Berg, Michel J., Squitieri, Ferdinando, Leedom, Tracey P., Ptacek, Louis, Johnson, Eric W., Marchuk, Douglas A.

“…Cerebral cavernous malformations (CCMs) are vascular abnormalities of the brain that can result in a variety of neurological disabilities, including…”
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Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus by 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.

“…Cerebral cavernous malformations (CCMs) are vascular abnormalities of the brain that can result in a variety of neurological disabilities, including stroke and…”
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Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations by Gianfrancesco, Fernando, Cannella, Milena, Martino, Tiziana, Maglione, Vittorio, Esposito, Teresa, Innocenzi, Gualtiero, Vitale, Emilia, Liquori, Christina L., Marchuk, Douglas A., Squitieri, Ferdinando

“…Cavernous vascular malformations may affect brain and out‐of‐brain tissues. In most cases, cerebral cavernous malformations (CCMs) involve the brain alone, and…”
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Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts by 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

“…Cerebral cavernous malformations (CCMs) are vascular abnormalities of the brain that can result in hemorrhagic stroke and seizures. Familial forms of CCM are…”
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CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations by Verlaan, Dominique J., Laurent, Sandra B., Rochefort, Daniel L., Liquori, Christina L., Marchuk, Douglas A., Siegel, Adrian M., Rouleau, Guy A.

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