McKusick VA - 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: mckusick va. 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 novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21.

Boyadjiev SA, Justice CM, Eyaid W, McKusick VA, Lachman RS, Chowdry AB, Jabak M, Zwaan J, Wilson AF, Jabs EW. Boyadjiev SA, et al. Among authors: mckusick va. Hum Genet. 2003 Jul;113(1):1-9. doi: 10.1007/s00439-003-0932-6. Epub 2003 Apr 3. Hum Genet. 2003. PMID: 12677423

3

Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease.

Arch EM, Goodman BK, Van Wesep RA, Liaw D, Clarke K, Parsons R, McKusick VA, Geraghty MT. Arch EM, et al. Among authors: mckusick va. Am J Med Genet. 1997 Sep 5;71(4):489-93. Am J Med Genet. 1997. PMID: 9286463

4

Human genetics: the last 35 years, the present, and the future.

McKusick VA. McKusick VA. Am J Hum Genet. 1992 Apr;50(4):663-70. Am J Hum Genet. 1992. PMID: 1550113 Free PMC article. No abstract available.

5

Tay-Sachs disease: high gene frequency in a non-Jewish population.

Kelly TE, Chase GA, Kaback MM, Kumor K, McKusick VA. Kelly TE, et al. Among authors: mckusick va. Am J Hum Genet. 1975 May;27(3):287-91. Am J Hum Genet. 1975. PMID: 803011 Free PMC article.

6

The growth and development of human genetics as a clinical discipline.

McKusick VA. McKusick VA. Am J Hum Genet. 1975 May;27(3):261-73. Am J Hum Genet. 1975. PMID: 803163 Free PMC article. No abstract available.

7

Mendelian Inheritance in Man and its online version, OMIM.

McKusick VA. McKusick VA. Am J Hum Genet. 2007 Apr;80(4):588-604. doi: 10.1086/514346. Epub 2007 Mar 8. Am J Hum Genet. 2007. PMID: 17357067 Free PMC article. No abstract available.

8

Progress in medical genetics: map-based gene discovery and the molecular pathology of skeletal dysplasias.

McKusick VA, Amberger JS, Francomano CA. McKusick VA, et al. Am J Med Genet. 1996 May 3;63(1):98-105. doi: 10.1002/(SICI)1096-8628(19960503)63:1<98::AID-AJMG19>3.0.CO;2-P. Am J Med Genet. 1996. PMID: 8723094 No abstract available.

9

2006 Curt Stern Award Address. Introductory speech for Hal Dietz.

McKusick VA. McKusick VA. Am J Hum Genet. 2007 Oct;81(4):660-1. doi: 10.1086/521408. Am J Hum Genet. 2007. PMID: 20529616 Free PMC article. No abstract available.

10

Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis.

Killoran CE, Abbott M, McKusick VA, Biesecker LG. Killoran CE, et al. Among authors: mckusick va. Clin Genet. 2000 Jul;58(1):28-30. doi: 10.1034/j.1399-0004.2000.580105.x. Clin Genet. 2000. PMID: 10945658

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