McKusick VA - Search Results

1

Medical genetic studies in the Amish: historical perspective.

Francomano CA, McKusick VA, Biesecker LG. Francomano CA, et al. Among authors: mckusick va. Am J Med Genet C Semin Med Genet. 2003 Aug 15;121C(1):1-4. doi: 10.1002/ajmg.c.20001. Am J Med Genet C Semin Med Genet. 2003. PMID: 12888981 No abstract available.

2

The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases.

Ridanpää M, Jain P, McKusick VA, Francomano CA, Kaitila I. Ridanpää M, et al. Among authors: mckusick va. Am J Med Genet C Semin Med Genet. 2003 Aug 15;121C(1):81-3. doi: 10.1002/ajmg.c.20006. Am J Med Genet C Semin Med Genet. 2003. PMID: 12888988

3

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.

4

High-resolution genetic mapping of the cartilage-hair hypoplasia (CHH) gene in Amish and Finnish families.

Sulisalo T, Francomano CA, Sistonen P, Maher JF, McKusick VA, de la Chapelle A, Kaitila I. Sulisalo T, et al. Among authors: mckusick va. Genomics. 1994 Apr;20(3):347-53. doi: 10.1006/geno.1994.1187. Genomics. 1994. PMID: 8034306 Free article.

5

Small deletions in the type II collagen triple helix produce kniest dysplasia.

Wilkin DJ, Artz AS, South S, Lachman RS, Rimoin DL, Wilcox WR, McKusick VA, Stratakis CA, Francomano CA, Cohn DH. Wilkin DJ, et al. Among authors: mckusick va. Am J Med Genet. 1999 Jul 16;85(2):105-12. Am J Med Genet. 1999. PMID: 10406661

6

The status of online Mendelian inheritance in man (OMIM) medio 1994.

Pearson P, Francomano C, Foster P, Bocchini C, Li P, McKusick V. Pearson P, et al. Nucleic Acids Res. 1994 Sep;22(17):3470-3. doi: 10.1093/nar/22.17.3470. Nucleic Acids Res. 1994. PMID: 7937048 Free PMC article.

7

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

8

Immunologic studies of cartilage-hair hypoplasia in the Amish.

Trojak JE, Polmar SH, Winkelstein JA, Hsu S, Francomano C, Pierce GF, Scillian JJ, Gale AN, McKusick VA. Trojak JE, et al. Among authors: mckusick va. Johns Hopkins Med J. 1981 Apr;148(4):157-64. Johns Hopkins Med J. 1981. PMID: 6970848

9

DNA light on the Tegernsee giant.

Schwindinger WF, Francomano CA, Levine MA, McKusick VA. Schwindinger WF, et al. Among authors: mckusick va. Lancet. 1991 Dec 7;338(8780):1454-5. doi: 10.1016/0140-6736(91)92752-n. Lancet. 1991. PMID: 1683435 Free article. No abstract available.

10

40 years of the annual 'Bar Harbor Course' (1960-1999): a pictorial history.

McKusick VA, Naggert J, Nishina P, Valle D. McKusick VA, et al. Clin Genet. 1999 Jun;55(6):398-415. doi: 10.1034/j.1399-0004.1999.550603.x. Clin Genet. 1999. PMID: 10450856 No abstract available.

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