Francomano C - Search Results

1

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. Among authors: francomano c. 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.

2

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. Among authors: francomano ca. 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.

3

Medical genetic studies in the Amish: historical perspective.

Francomano CA, McKusick VA, Biesecker LG. Francomano CA, et al. 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.

4

PCR-based detection of polymorphic DdeI and KpnI sites in intron 5 of the adenylate kinase (AK1) gene.

Puffenberger EG, Francomano CA. Puffenberger EG, et al. Among authors: francomano ca. Nucleic Acids Res. 1991 Mar 11;19(5):1161. doi: 10.1093/nar/19.5.1161. Nucleic Acids Res. 1991. PMID: 1673557 Free PMC article.

5

DNA light on the Tegernsee giant.

Schwindinger WF, Francomano CA, Levine MA, McKusick VA. Schwindinger WF, et al. Among authors: francomano ca. 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.

6

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: francomano ca. Genomics. 1994 Apr;20(3):347-53. doi: 10.1006/geno.1994.1187. Genomics. 1994. PMID: 8034306 Free article.

7

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. 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

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: francomano c. Johns Hopkins Med J. 1981 Apr;148(4):157-64. Johns Hopkins Med J. 1981. PMID: 6970848

9

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: francomano ca. Am J Med Genet. 1999 Jul 16;85(2):105-12. Am J Med Genet. 1999. PMID: 10406661

10

Physical mapping of the nail patella syndrome interval at 9q34: ordering of STSs and ESTs.

Eyaid WM, Clough MV, Root H, Scott KM, McCormick MK, Zhang X, Lisitsyn NA, Kearns WG, Francomano CA, Richards JE, McIntosh I. Eyaid WM, et al. Among authors: francomano ca. Hum Genet. 1998 Oct;103(4):525-6. doi: 10.1007/s004390050862. Hum Genet. 1998. PMID: 9856502 Free article. No abstract available.

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