Francomano CA - Search Results

1

Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI.

Chang S, Rosenberg MJ, Morton H, Francomano CA, Biesecker LG. Chang S, et al. Among authors: francomano ca. Hum Mol Genet. 1998 May;7(5):865-70. doi: 10.1093/hmg/7.5.865. Hum Mol Genet. 1998. PMID: 9536091

2

Genetic and physical mapping of the McKusick-Kaufman syndrome.

Stone DL, Agarwala R, Schäffer AA, Weber JL, Vaske D, Oda T, Chandrasekharappa SC, Francomano CA, Biesecker LG. Stone DL, et al. Among authors: francomano ca. Hum Mol Genet. 1998 Mar;7(3):475-81. doi: 10.1093/hmg/7.3.475. Hum Mol Genet. 1998. PMID: 9467007

3

A novel nemaline myopathy in the Amish caused by a mutation in troponin T1.

Johnston JJ, Kelley RI, Crawford TO, Morton DH, Agarwala R, Koch T, Schäffer AA, Francomano CA, Biesecker LG. Johnston JJ, et al. Among authors: francomano ca. Am J Hum Genet. 2000 Oct;67(4):814-21. doi: 10.1086/303089. Epub 2000 Aug 21. Am J Hum Genet. 2000. PMID: 10952871 Free PMC article.

4

Software for constructing and verifying pedigrees within large genealogies and an application to the Old Order Amish of Lancaster County.

Agarwala R, Biesecker LG, Hopkins KA, Francomano CA, Schaffer AA. Agarwala R, et al. Among authors: francomano ca. Genome Res. 1998 Mar;8(3):211-21. doi: 10.1101/gr.8.3.211. Genome Res. 1998. PMID: 9521925 Free article.

5

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.

6

Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p.

Francomano CA, Ortiz de Luna RI, Hefferon TW, Bellus GA, Turner CE, Taylor E, Meyers DA, Blanton SH, Murray JC, McIntosh I, et al. Francomano CA, et al. Hum Mol Genet. 1994 May;3(5):787-92. doi: 10.1093/hmg/3.5.787. Hum Mol Genet. 1994. PMID: 8081365

7

Exclusion of the MSX1 homeobox gene as the gene for the Ellis van Creveld syndrome in the Amish.

Ide SE, Ortiz de Luna RI, Francomano CA, Polymeropoulos MH. Ide SE, et al. Among authors: francomano ca. Hum Genet. 1996 Nov;98(5):572-5. doi: 10.1007/s004390050261. Hum Genet. 1996. PMID: 8882877

8

Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome.

Wilkin DJ, Szabo JK, Cameron R, Henderson S, Bellus GA, Mack ML, Kaitila I, Loughlin J, Munnich A, Sykes B, Bonaventure J, Francomano CA. Wilkin DJ, et al. Among authors: francomano ca. Am J Hum Genet. 1998 Sep;63(3):711-6. doi: 10.1086/302000. Am J Hum Genet. 1998. PMID: 9718331 Free PMC article.

9

Mutation analysis of LMX1B gene in nail-patella syndrome patients.

McIntosh I, Dreyer SD, Clough MV, Dunston JA, Eyaid W, Roig CM, Montgomery T, Ala-Mello S, Kaitila I, Winterpacht A, Zabel B, Frydman M, Cole WG, Francomano CA, Lee B. McIntosh I, et al. Among authors: francomano ca. Am J Hum Genet. 1998 Dec;63(6):1651-8. doi: 10.1086/302165. Am J Hum Genet. 1998. PMID: 9837817 Free PMC article.

10

Presymptomatic direct detection of adenomatous polyposis coli (APC) gene mutations in familial adenomatous polyposis.

Petersen GM, Francomano C, Kinzler K, Nakamura Y. Petersen GM, et al. Hum Genet. 1993 May;91(4):307-11. doi: 10.1007/BF00217347. Hum Genet. 1993. PMID: 8388848

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