Ramirez F - Search Results

1

Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes.

Lee B, Godfrey M, Vitale E, Hori H, Mattei MG, Sarfarazi M, Tsipouras P, Ramirez F, Hollister DW. Lee B, et al. Among authors: ramirez f. Nature. 1991 Jul 25;352(6333):330-4. doi: 10.1038/352330a0. Nature. 1991. PMID: 1852206

2

The fibrillin-Marfan syndrome connection.

Ramirez F, Pereira L, Zhang H, Lee B. Ramirez F, et al. Bioessays. 1993 Sep;15(9):589-94. doi: 10.1002/bies.950150904. Bioessays. 1993. PMID: 8240311 Review.

3

Clinical and genetic associations in Marfan syndrome and related disorders.

Ramirez F, Lee B, Vitale E. Ramirez F, et al. Mt Sinai J Med. 1992 Sep;59(4):350-6. Mt Sinai J Med. 1992. PMID: 1406753

4

G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV.

Lee B, Vitale E, Superti-Furga A, Steinmann B, Ramirez F. Lee B, et al. Among authors: ramirez f. J Biol Chem. 1991 Mar 15;266(8):5256-9. J Biol Chem. 1991. PMID: 1672129 Free article.

5

Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity.

D'Alessio M, Ramirez F, Blumberg BD, Wirtz MK, Rao VH, Godfrey MD, Hollister DW. D'Alessio M, et al. Among authors: ramirez f. Am J Hum Genet. 1991 Aug;49(2):400-6. Am J Hum Genet. 1991. PMID: 1867198 Free PMC article.

6

Glycine to serine substitution in the triple helical domain of pro-alpha 1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism.

Vissing H, D'Alessio M, Lee B, Ramirez F, Godfrey M, Hollister DW. Vissing H, et al. Among authors: ramirez f. J Biol Chem. 1989 Nov 5;264(31):18265-7. J Biol Chem. 1989. PMID: 2572591 Free article.

These findings confirm the proposal that new dominant mutations in the type II procollagen gene may account for some cases of Type II achondrogenesis-hypochondrogenesis. Since recent studies (Lee, B., Vissing, H., Ramirez, F., Rogers, D., and Rimoin, D. (1989) Scien …

These findings confirm the proposal that new dominant mutations in the type II procollagen gene may account for some cases of Type II achond …

7

Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome.

Pereira L, Andrikopoulos K, Tian J, Lee SY, Keene DR, Ono R, Reinhardt DP, Sakai LY, Biery NJ, Bunton T, Dietz HC, Ramirez F. Pereira L, et al. Among authors: ramirez f. Nat Genet. 1997 Oct;17(2):218-22. doi: 10.1038/ng1097-218. Nat Genet. 1997. PMID: 9326947

8

Modifications in the organization and expression of collagen genes associated with skeletal disorders.

Lee B, D'Alessio M, Ramirez F. Lee B, et al. Among authors: ramirez f. Crit Rev Eukaryot Gene Expr. 1991;1(3):173-87. Crit Rev Eukaryot Gene Expr. 1991. PMID: 1802109 Review.

9

Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV.

Lee B, D'Alessio M, Vissing H, Ramirez F, Steinmann B, Superti-Furga A. Lee B, et al. Among authors: ramirez f. Am J Hum Genet. 1991 Mar;48(3):511-7. Am J Hum Genet. 1991. PMID: 1998337 Free PMC article.

10

Synteny between the loci for a novel FACIT-like collagen locus (D6S228E) and alpha 1 (IX) collagen (COL9A1) on 6q12-q14 in humans.

Yoshioka H, Zhang H, Ramirez F, Mattei MG, Moradi-Ameli M, van der Rest M, Gordon MK. Yoshioka H, et al. Among authors: ramirez f. Genomics. 1992 Jul;13(3):884-6. doi: 10.1016/0888-7543(92)90176-s. Genomics. 1992. PMID: 1639419

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