McKinnon W - Search Results

1

Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus.

Howard TD, Guttmacher AE, McKinnon W, Sharma M, McKusick VA, Jabs EW. Howard TD, et al. Among authors: mckinnon w. Am J Hum Genet. 1997 Dec;61(6):1405-12. doi: 10.1086/301643. Am J Hum Genet. 1997. PMID: 9399901 Free PMC article.

2

A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome.

Innis JW, Goodman FR, Bacchelli C, Williams TM, Mortlock DP, Sateesh P, Scambler PJ, McKinnon W, Guttmacher AE. Innis JW, et al. Among authors: mckinnon w. Hum Mutat. 2002 May;19(5):573-4. doi: 10.1002/humu.9036. Hum Mutat. 2002. PMID: 11968094 Free article.

3

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: mckinnon wc. 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.

4

Confirmation of linkage of Clouston syndrome (hidrotic ectodermal dysplasia) to 13q11-q12.1 with evidence for multiple independent mutations.

Taylor TD, Hayflick SJ, McKinnon W, Guttmacher AE, Hovnanian A, Litt M, Zonana J. Taylor TD, et al. Among authors: mckinnon w. J Invest Dermatol. 1998 Jul;111(1):83-5. doi: 10.1046/j.1523-1747.1998.00245.x. J Invest Dermatol. 1998. PMID: 9665391 Free article.

5

Hereditary hemorrhagic telangiectasia: a disorder in search of the genetics community.

Guttmacher AE, McKinnon WC, Upton MD. Guttmacher AE, et al. Among authors: mckinnon wc. Am J Med Genet. 1994 Aug 15;52(2):252-3. doi: 10.1002/ajmg.1320520232. Am J Med Genet. 1994. PMID: 7802026 No abstract available.

6

The Familial Cancer Program of the Vermont Cancer Center: Development of a Cancer Genetics Program in a Rural Area.

McKinnon WC, Guttmacher AE, Greenblatt MS, Compas BE, May S, Cutler RE, Yandell DW. McKinnon WC, et al. J Genet Couns. 1997 Jun;6(2):131-45. doi: 10.1023/A:1025603900839. J Genet Couns. 1997. PMID: 26142091

7

Clouston syndrome (hidrotic ectodermal dysplasia) is not linked to keratin gene clusters on chromosomes 12 and 17.

Hayflick SJ, Taylor T, McKinnon W, Guttmacher AE, Litt M, Zonana J. Hayflick SJ, et al. Among authors: mckinnon w. J Invest Dermatol. 1996 Jul;107(1):11-4. doi: 10.1111/1523-1747.ep12295239. J Invest Dermatol. 1996. PMID: 8752831 Free article.

8

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. Among authors: mckinnon w. 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.

9

Endoglin expression is reduced in normal vessels but still detectable in arteriovenous malformations of patients with hereditary hemorrhagic telangiectasia type 1.

Bourdeau A, Cymerman U, Paquet ME, Meschino W, McKinnon WC, Guttmacher AE, Becker L, Letarte M. Bourdeau A, et al. Among authors: mckinnon wc. Am J Pathol. 2000 Mar;156(3):911-23. doi: 10.1016/S0002-9440(10)64960-7. Am J Pathol. 2000. PMID: 10702408 Free PMC article.

10

A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34.

McDonald MT, Papenberg KA, Ghosh S, Glatfelter AA, Biesecker BB, Helmbold EA, Markel DS, Zolotor A, McKinnon WC, Vanderstoep JL, et al. McDonald MT, et al. Among authors: mckinnon wc. Nat Genet. 1994 Feb;6(2):197-204. doi: 10.1038/ng0294-197. Nat Genet. 1994. PMID: 8162075

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