Costa T - Search Results

1

Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients.

Osborne LR, Martindale D, Scherer SW, Shi XM, Huizenga J, Heng HH, Costa T, Pober B, Lew L, Brinkman J, Rommens J, Koop B, Tsui LC. Osborne LR, et al. Among authors: costa t. Genomics. 1996 Sep 1;36(2):328-36. doi: 10.1006/geno.1996.0469. Genomics. 1996. PMID: 8812460 Free article.

2

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

Osborne LR, Li M, Pober B, Chitayat D, Bodurtha J, Mandel A, Costa T, Grebe T, Cox S, Tsui LC, Scherer SW. Osborne LR, et al. Among authors: costa t. Nat Genet. 2001 Nov;29(3):321-5. doi: 10.1038/ng753. Nat Genet. 2001. PMID: 11685205 Free PMC article.

3

Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome.

Osborne LR, Soder S, Shi XM, Pober B, Costa T, Scherer SW, Tsui LC. Osborne LR, et al. Among authors: costa t. Am J Hum Genet. 1997 Aug;61(2):449-52. doi: 10.1086/514850. Am J Hum Genet. 1997. PMID: 9311751 Free PMC article. No abstract available.

4

Deletion 3q in two patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).

Costa T, Pashby R, Huggins M, Teshima IE. Costa T, et al. J Pediatr Ophthalmol Strabismus. 1998 Sep-Oct;35(5):271-6. doi: 10.3928/0191-3913-19980901-06. J Pediatr Ophthalmol Strabismus. 1998. PMID: 9782438

5

Molecular analysis redefines three human chromosome 14 deletions.

Wintle RF, Costa T, Haslam RH, Teshima IE, Cox DW. Wintle RF, et al. Among authors: costa t. Hum Genet. 1995 May;95(5):495-500. doi: 10.1007/BF00223859. Hum Genet. 1995. PMID: 7759068

6

Monozygotic twins discordant for Aicardi syndrome.

Costa T, Greer W, Rysiecki G, Buncic JR, Ray PN. Costa T, et al. J Med Genet. 1997 Aug;34(8):688-91. doi: 10.1136/jmg.34.8.688. J Med Genet. 1997. PMID: 9279766 Free PMC article.

7

What syndrome is this? Costello syndrome.

Costa T, Eichenfield LF, Krafchik BR. Costa T, et al. Pediatr Dermatol. 1994 Sep;11(3):277-9. doi: 10.1111/j.1525-1470.1994.tb00604.x. Pediatr Dermatol. 1994. PMID: 7971567 No abstract available.

8

A novel G499D substitution in the alpha 1(III) chain of type III collagen produces variable forms of Ehlers-Danlos syndrome type IV.

McGrory J, Costa T, Cole WG. McGrory J, et al. Among authors: costa t. Hum Mutat. 1996;7(1):59-60. doi: 10.1002/(SICI)1098-1004(1996)7:1<59::AID-HUMU8>3.0.CO;2-K. Hum Mutat. 1996. PMID: 8664902 No abstract available.

9

Monozygotic twins with 45,X/46,XY mosaicism discordant for phenotypic sex.

Costa T, Lambert M, Teshima I, Ray PN, Richer CL, Dallaire L. Costa T, et al. Am J Med Genet. 1998 Jan 6;75(1):40-4. Am J Med Genet. 1998. PMID: 9450855 Review.

10

Proteus syndrome.

Costa T, Krafchik BR. Costa T, et al. Pediatr Dermatol. 1989 Dec;6(4):344-5. doi: 10.1111/j.1525-1470.1989.tb00923.x. Pediatr Dermatol. 1989. PMID: 2616392 No abstract available.

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