Guttmacher AE - Search Results

1

Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).

Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, Kjeldsen AD, Plauchu H. Shovlin CL, et al. Among authors: guttmacher ae. Am J Med Genet. 2000 Mar 6;91(1):66-7. doi: 10.1002/(sici)1096-8628(20000306)91:1<66::aid-ajmg12>3.0.co;2-p. Am J Med Genet. 2000. PMID: 10751092

2

International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia.

Faughnan ME, Palda VA, Garcia-Tsao G, Geisthoff UW, McDonald J, Proctor DD, Spears J, Brown DH, Buscarini E, Chesnutt MS, Cottin V, Ganguly A, Gossage JR, Guttmacher AE, Hyland RH, Kennedy SJ, Korzenik J, Mager JJ, Ozanne AP, Piccirillo JF, Picus D, Plauchu H, Porteous ME, Pyeritz RE, Ross DA, Sabba C, Swanson K, Terry P, Wallace MC, Westermann CJ, White RI, Young LH, Zarrabeitia R; HHT Foundation International - Guidelines Working Group. Faughnan ME, et al. Among authors: guttmacher ae. J Med Genet. 2011 Feb;48(2):73-87. doi: 10.1136/jmg.2009.069013. Epub 2009 Jun 23. J Med Genet. 2011. PMID: 19553198 Free article.

3

Reported cardiac phenotypes in hereditary hemorrhagic telangiectasia emphasize burdens from arrhythmias, anemia and its treatments, but suggest reduced rates of myocardial infarction.

Shovlin CL, Awan I, Cahilog Z, Abdulla FN, Guttmacher AE. Shovlin CL, et al. Among authors: guttmacher ae. Int J Cardiol. 2016 Jul 15;215:179-85. doi: 10.1016/j.ijcard.2016.04.006. Epub 2016 Apr 7. Int J Cardiol. 2016. PMID: 27116331 Free article.

4

Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles.

Gallione CJ, Klaus DJ, Yeh EY, Stenzel TT, Xue Y, Anthony KB, McAllister KA, Baldwin MA, Berg JN, Lux A, Smith JD, Vary CP, Craigen WJ, Westermann CJ, Warner ML, Miller YE, Jackson CE, Guttmacher AE, Marchuk DA. Gallione CJ, et al. Among authors: guttmacher ae. Hum Mutat. 1998;11(4):286-94. doi: 10.1002/(SICI)1098-1004(1998)11:4<286::AID-HUMU6>3.0.CO;2-B. Hum Mutat. 1998. PMID: 9554745

5

Hereditary haemorrhagic telangiectasia: a questionnaire based study to delineate the different phenotypes caused by endoglin and ALK1 mutations.

Berg J, Porteous M, Reinhardt D, Gallione C, Holloway S, Umasunthar T, Lux A, McKinnon W, Marchuk D, Guttmacher A. Berg J, et al. J Med Genet. 2003 Aug;40(8):585-90. doi: 10.1136/jmg.40.8.585. J Med Genet. 2003. PMID: 12920067 Free PMC article.

6

Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin?

Berg JN, Guttmacher AE, Marchuk DA, Porteous ME. Berg JN, et al. Among authors: guttmacher ae. J Med Genet. 1996 Mar;33(3):256-7. doi: 10.1136/jmg.33.3.256. J Med Genet. 1996. PMID: 8728706 Free PMC article.

7

Did Robert Louis Stevenson have hereditary hemorrhagic telangiectasia?

Guttmacher AE, Callahan JR. Guttmacher AE, et al. Am J Med Genet. 2000 Mar 6;91(1):62-5. doi: 10.1002/(sici)1096-8628(20000306)91:1<62::aid-ajmg11>3.0.co;2-3. Am J Med Genet. 2000. PMID: 10751091

8

Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype.

McAllister KA, Lennon F, Bowles-Biesecker B, McKinnon WC, Helmbold EA, Markel DS, Jackson CE, Guttmacher AE, Pericak-Vance MA, Marchuk DA. McAllister KA, et al. Among authors: guttmacher ae. J Med Genet. 1994 Dec;31(12):927-32. doi: 10.1136/jmg.31.12.927. J Med Genet. 1994. PMID: 7891374 Free PMC article.

9

Health screening behaviors among adults with hereditary hemorrhagic telangiectasia in North America.

Baxter M, Erby L, Roter D, Bernhardt BA, Terry P, Guttmacher A. Baxter M, et al. Genet Med. 2017 Jun;19(6):659-666. doi: 10.1038/gim.2016.161. Epub 2016 Oct 13. Genet Med. 2017. PMID: 27735923 Free PMC article.

10

Report on the workshop on Hereditary Hemorrhagic Telangiectasia, July 10-11, 1997.

Marchuk DA, Guttmacher AE, Penner JA, Ganguly P. Marchuk DA, et al. Among authors: guttmacher ae. Am J Med Genet. 1998 Mar 19;76(3):269-73. Am J Med Genet. 1998. PMID: 9508248 No abstract available.

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