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Items: 13

1.

Making the Most of HIM Centralization.

Valyi C, Gann R, Liquori C, Marshall P.

J AHIMA. 2016 Feb;87(2):26-9. No abstract available.

PMID:
26939374
2.

Comprehensive molecular characterization of clear cell renal cell carcinoma.

Cancer Genome Atlas Research Network.

Nature. 2013 Jul 4;499(7456):43-9. doi: 10.1038/nature12222. Epub 2013 Jun 23.

3.

Comprehensive genomic characterization of squamous cell lung cancers.

Cancer Genome Atlas Research Network.

Nature. 2012 Sep 27;489(7417):519-25. doi: 10.1038/nature11404. Epub 2012 Sep 9. Erratum in: Nature. 2012 Nov 8;491(7423):288. Rogers, Kristen [corrected to Rodgers, Kristen].

4.

Comprehensive molecular characterization of human colon and rectal cancer.

Cancer Genome Atlas Network.

Nature. 2012 Jul 18;487(7407):330-7. doi: 10.1038/nature11252.

5.

ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations.

Gianfrancesco F, Esposito T, Penco S, Maglione V, Liquori CL, Patrosso MC, Zuffardi O, Ciccodicola A, Marchuk DA, Squitieri F.

Neuroscience. 2008 Aug 13;155(2):345-9. doi: 10.1016/j.neuroscience.2008.05.030. Epub 2008 Jul 16.

PMID:
18632209
6.

Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts.

Liquori CL, Penco S, Gault J, Leedom TP, Tassi L, Esposito T, Awad IA, Frati L, Johnson EW, Squitieri F, Marchuk DA, Gianfrancesco F.

Neurogenetics. 2008 Feb;9(1):25-31. Epub 2007 Dec 1.

PMID:
18060436
7.

Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations.

Gianfrancesco F, Cannella M, Martino T, Maglione V, Esposito T, Innocenzi G, Vitale E, Liquori CL, Marchuk DA, Squitieri F.

Am J Med Genet B Neuropsychiatr Genet. 2007 Jul 5;144B(5):691-5.

PMID:
17440989
8.

Deletions in CCM2 are a common cause of cerebral cavernous malformations.

Liquori CL, Berg MJ, Squitieri F, Leedom TP, Ptacek L, Johnson EW, Marchuk DA.

Am J Hum Genet. 2007 Jan;80(1):69-75. Epub 2006 Nov 14.

9.

Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus.

Liquori CL, Berg MJ, Squitieri F, Ottenbacher M, Sorlie M, Leedom TP, Cannella M, Maglione V, Ptacek L, Johnson EW, Marchuk DA.

Hum Mutat. 2006 Jan;27(1):118.

PMID:
16329096
10.

CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations.

Verlaan DJ, Laurent SB, Rochefort DL, Liquori CL, Marchuk DA, Siegel AM, Rouleau GA.

Ann Neurol. 2004 May;55(5):757-8. No abstract available.

PMID:
15122722
11.

Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations.

Liquori CL, Berg MJ, Siegel AM, Huang E, Zawistowski JS, Stoffer T, Verlaan D, Balogun F, Hughes L, Leedom TP, Plummer NW, Cannella M, Maglione V, Squitieri F, Johnson EW, Rouleau GA, Ptacek L, Marchuk DA.

Am J Hum Genet. 2003 Dec;73(6):1459-64. Epub 2003 Nov 17.

12.

Myotonic dystrophy type 2: human founder haplotype and evolutionary conservation of the repeat tract.

Liquori CL, Ikeda Y, Weatherspoon M, Ricker K, Schoser BG, Dalton JC, Day JW, Ranum LP.

Am J Hum Genet. 2003 Oct;73(4):849-62. Epub 2003 Sep 22.

13.

Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9.

Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, Naylor SL, Day JW, Ranum LP.

Science. 2001 Aug 3;293(5531):864-7.

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