Francomano CA - Search Results

1

High-resolution linkage-disequilibrium mapping of the cartilage-hair hypoplasia gene.

Sulisalo T, Klockars J, Mäkitie O, Francomano CA, de la Chapelle A, Kaitila I, Sistonen P. Sulisalo T, et al. Among authors: francomano ca. Am J Hum Genet. 1994 Nov;55(5):937-45. Am J Hum Genet. 1994. PMID: 7977356 Free PMC article.

2

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.

3

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: francomano ca. 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

4

Marfan syndrome: no evidence for heterogeneity in different populations, and more precise mapping of the gene.

Kainulainen K, Steinmann B, Collins F, Dietz HC, Francomano CA, Child A, Kilpatrick MW, Brock DJ, Keston M, Pyeritz RE, et al. Kainulainen K, et al. Among authors: francomano ca. Am J Hum Genet. 1991 Sep;49(3):662-7. Am J Hum Genet. 1991. PMID: 1882844 Free PMC article.

5

A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.

Bellus GA, McIntosh I, Smith EA, Aylsworth AS, Kaitila I, Horton WA, Greenhaw GA, Hecht JT, Francomano CA. Bellus GA, et al. Among authors: francomano ca. Nat Genet. 1995 Jul;10(3):357-9. doi: 10.1038/ng0795-357. Nat Genet. 1995. PMID: 7670477

6

Achondroplasia is defined by recurrent G380R mutations of FGFR3.

Bellus GA, Hefferon TW, Ortiz de Luna RI, Hecht JT, Horton WA, Machado M, Kaitila I, McIntosh I, Francomano CA. Bellus GA, et al. Among authors: francomano ca. Am J Hum Genet. 1995 Feb;56(2):368-73. Am J Hum Genet. 1995. PMID: 7847369 Free PMC article.

7

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.

8

Hypochondroplasia: molecular analysis of the fibroblast growth factor receptor 3 gene.

Bellus GA, McIntosh I, Szabo J, Aylsworth A, Kaitila I, Francomano CA. Bellus GA, et al. Among authors: francomano ca. Ann N Y Acad Sci. 1996 Jun 8;785:182-7. doi: 10.1111/j.1749-6632.1996.tb56257.x. Ann N Y Acad Sci. 1996. PMID: 8702125 Review. No abstract available.

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

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

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