Francomano CA - Search Results

1

Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia.

Hecht JT, Nelson LD, Crowder E, Wang Y, Elder FF, Harrison WR, Francomano CA, Prange CK, Lennon GG, Deere M, et al. Hecht JT, et al. Among authors: francomano ca. Nat Genet. 1995 Jul;10(3):325-9. doi: 10.1038/ng0795-325. Nat Genet. 1995. PMID: 7670471

2

Linkage of typical pseudoachondroplasia to chromosome 19.

Hecht JT, Francomano CA, Briggs MD, Deere M, Conner B, Horton WA, Warman M, Cohn DH, Blanton SH. Hecht JT, et al. Among authors: francomano ca. Genomics. 1993 Dec;18(3):661-6. doi: 10.1016/s0888-7543(05)80370-2. Genomics. 1993. PMID: 8307577

3

Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.

Deere M, Sanford T, Francomano CA, Daniels K, Hecht JT. Deere M, et al. Among authors: francomano ca. Am J Med Genet. 1999 Aug 27;85(5):486-90. doi: 10.1002/(sici)1096-8628(19990827)85:5<486::aid-ajmg10>3.0.co;2-o. Am J Med Genet. 1999. PMID: 10405447

4

Analysis of the chondroitin sulfate proteoglycan core protein (CSPGCP) gene in achondroplasia and pseudoachondroplasia.

Finkelstein JE, Doege K, Yamada Y, Pyeritz RE, Graham JM Jr, Moeschler JB, Pauli RM, Hecht JT, Francomano CA. Finkelstein JE, et al. Among authors: francomano ca. Am J Hum Genet. 1991 Jan;48(1):97-102. Am J Hum Genet. 1991. PMID: 1670752 Free PMC article.

5

Exclusion of human proteoglycan link protein (CRTL1) and type II collagen (COL2A1) genes in pseudoachondroplasia.

Hecht JT, Blanton SH, Wang Y, Daiger SP, Horton WA, Rhodes C, Yamada Y, Francomano CA. Hecht JT, et al. Among authors: francomano ca. Am J Med Genet. 1992 Nov 1;44(4):420-4. doi: 10.1002/ajmg.1320440406. Am J Med Genet. 1992. PMID: 1442879

6

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

7

A type X collagen mutation causes Schmid metaphyseal chondrodysplasia.

Warman ML, Abbott M, Apte SS, Hefferon T, McIntosh I, Cohn DH, Hecht JT, Olsen BR, Francomano CA. Warman ML, et al. Among authors: francomano ca. Nat Genet. 1993 Sep;5(1):79-82. doi: 10.1038/ng0993-79. Nat Genet. 1993. PMID: 8220429

8

Mortality in achondroplasia.

Hecht JT, Francomano CA, Horton WA, Annegers JF. Hecht JT, et al. Among authors: francomano ca. Am J Hum Genet. 1987 Sep;41(3):454-64. Am J Hum Genet. 1987. PMID: 3631079 Free PMC article.

9

Confirmatory linkage of hypochondroplasia to chromosome arm 4p.

Hecht JT, Herrera CA, Greenhaw GA, Francomano CA, Bellus GA, Blanton SH. Hecht JT, et al. Among authors: francomano ca. Am J Med Genet. 1995 Jul 3;57(3):505-6. doi: 10.1002/ajmg.1320570333. Am J Med Genet. 1995. PMID: 7677163 No abstract available.

10

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.

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