Gallione CJ - Search Results

1

Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations.

Shenkar R, Shi C, Rebeiz T, Stockton RA, McDonald DA, Mikati AG, Zhang L, Austin C, Akers AL, Gallione CJ, Rorrer A, Gunel M, Min W, De Souza JM, Lee C, Marchuk DA, Awad IA. Shenkar R, et al. Among authors: gallione cj. Genet Med. 2015 Mar;17(3):188-196. doi: 10.1038/gim.2014.97. Epub 2014 Aug 14. Genet Med. 2015. PMID: 25122144 Free PMC article.

2

A locus for cerebral cavernous malformations maps to chromosome 7q in two families.

Marchuk DA, Gallione CJ, Morrison LA, Clericuzio CL, Hart BL, Kosofsky BE, Louis DN, Gusella JF, Davis LE, Prenger VL. Marchuk DA, et al. Among authors: gallione cj. Genomics. 1995 Jul 20;28(2):311-4. doi: 10.1006/geno.1995.1147. Genomics. 1995. PMID: 8530042

3

Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function.

McAllister KA, Baldwin MA, Thukkani AK, Gallione CJ, Berg JN, Porteous ME, Guttmacher AE, Marchuk DA. McAllister KA, et al. Among authors: gallione cj. Hum Mol Genet. 1995 Oct;4(10):1983-5. doi: 10.1093/hmg/4.10.1983. Hum Mol Genet. 1995. PMID: 8595426 No abstract available.

4

Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2.

Johnson DW, Berg JN, Baldwin MA, Gallione CJ, Marondel I, Yoon SJ, Stenzel TT, Speer M, Pericak-Vance MA, Diamond A, Guttmacher AE, Jackson CE, Attisano L, Kucherlapati R, Porteous ME, Marchuk DA. Johnson DW, et al. Among authors: gallione cj. Nat Genet. 1996 Jun;13(2):189-95. doi: 10.1038/ng0696-189. Nat Genet. 1996. PMID: 8640225

5

A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12.

Johnson DW, Berg JN, Gallione CJ, McAllister KA, Warner JP, Helmbold EA, Markel DS, Jackson CE, Porteous ME, Marchuk DA. Johnson DW, et al. Among authors: gallione cj. Genome Res. 1995 Aug;5(1):21-8. doi: 10.1101/gr.5.1.21. Genome Res. 1995. PMID: 8717052 Free article.

6

The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2.

Berg JN, Gallione CJ, Stenzel TT, Johnson DW, Allen WP, Schwartz CE, Jackson CE, Porteous ME, Marchuk DA. Berg JN, et al. Among authors: gallione cj. Am J Hum Genet. 1997 Jul;61(1):60-7. doi: 10.1086/513903. Am J Hum Genet. 1997. PMID: 9245985 Free PMC article.

7

Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1).

Sahoo T, Johnson EW, Thomas JW, Kuehl PM, Jones TL, Dokken CG, Touchman JW, Gallione CJ, Lee-Lin SQ, Kosofsky B, Kurth JH, Louis DN, Mettler G, Morrison L, Gil-Nagel A, Rich SS, Zabramski JM, Boguski MS, Green ED, Marchuk DA. Sahoo T, et al. Among authors: gallione cj. Hum Mol Genet. 1999 Nov;8(12):2325-33. doi: 10.1093/hmg/8.12.2325. Hum Mol Genet. 1999. PMID: 10545614

8

Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia. Mutations in brief no. 164. Online.

Klaus DJ, Gallione CJ, Anthony K, Yeh EY, Yu J, Lux A, Johnson DW, Marchuk DA. Klaus DJ, et al. Among authors: gallione cj. Hum Mutat. 1998;12(2):137. doi: 10.1002/(SICI)1098-1004(1998)12:2<137::AID-HUMU16>3.0.CO;2-J. Hum Mutat. 1998. PMID: 10694922

9

Expression analysis of endoglin missense and truncation mutations: insights into protein structure and disease mechanisms.

Lux A, Gallione CJ, Marchuk DA. Lux A, et al. Among authors: gallione cj. Hum Mol Genet. 2000 Mar 22;9(5):745-55. doi: 10.1093/hmg/9.5.745. Hum Mol Genet. 2000. PMID: 10749981

10

Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect.

Gallione CJ, Scheessele EA, Reinhardt D, Duits AJ, Berg JN, Westermann CJ, Marchuk DA. Gallione CJ, et al. Hum Genet. 2000 Jul;107(1):40-4. doi: 10.1007/s004390000326. Hum Genet. 2000. PMID: 10982033

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