Spence JE - Search Results

1

Prenatal diagnosis and heterozygote detection by DNA analysis in ornithine transcarbamylase deficiency.

Spence JE, Maddalena A, O'Brien WE, Fernbach SD, Batshaw ML, Leonard CO, Beaudet AL. Spence JE, et al. J Pediatr. 1989 Apr;114(4 Pt 1):582-8. doi: 10.1016/s0022-3476(89)80697-3. J Pediatr. 1989. PMID: 2564432 Free article.

2

Prenatal diagnosis of cystic fibrosis: microvillar enzymes and DNA analysis compared.

Buffone GJ, Spence JE, Fernbach SD, Curry MR, O'Brien WE, Beaudet AL. Buffone GJ, et al. Among authors: spence je. Clin Chem. 1988 May;34(5):933-7. Clin Chem. 1988. PMID: 2897257

3

Uniparental disomy as a mechanism for human genetic disease.

Spence JE, Perciaccante RG, Greig GM, Willard HF, Ledbetter DH, Hejtmancik JF, Pollack MS, O'Brien WE, Beaudet AL. Spence JE, et al. Am J Hum Genet. 1988 Feb;42(2):217-26. Am J Hum Genet. 1988. PMID: 2893543 Free PMC article.

4

Characterization of point mutations in the same arginine codon in three unrelated patients with ornithine transcarbamylase deficiency.

Maddalena A, Spence JE, O'Brien WE, Nussbaum RL. Maddalena A, et al. Among authors: spence je. J Clin Invest. 1988 Oct;82(4):1353-8. doi: 10.1172/JCI113738. J Clin Invest. 1988. PMID: 3170748 Free PMC article.

5

Prenatal diagnosis of cystic fibrosis using linked DNA markers and microvillar intestinal enzyme analysis.

Spence JE, Buffone GJ, Rosenbloom CL, Fernbach SD, Curry MR, Carpenter RJ, Ledbetter DH, O'Brien WE, Beaudet AL. Spence JE, et al. Hum Genet. 1987 May;76(1):5-10. doi: 10.1007/BF00283042. Hum Genet. 1987. PMID: 3471704

6

Linkage of DNA markers to cystic fibrosis in 26 families.

Spence JE, Rosenbloom CL, O'Brien WE, Seilheimer DK, Cole S, Ferrell RE, Stern RC, Beaudet AL. Spence JE, et al. Am J Hum Genet. 1986 Dec;39(6):729-34. Am J Hum Genet. 1986. PMID: 2879439 Free PMC article.

7

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.

Ben-Shachar S, Lanpher B, German JR, Qasaymeh M, Potocki L, Nagamani SC, Franco LM, Malphrus A, Bottenfield GW, Spence JE, Amato S, Rousseau JA, Moghaddam B, Skinner C, Skinner SA, Bernes S, Armstrong N, Shinawi M, Stankiewicz P, Patel A, Cheung SW, Lupski JR, Beaudet AL, Sahoo T. Ben-Shachar S, et al. Among authors: spence je. J Med Genet. 2009 Jun;46(6):382-8. doi: 10.1136/jmg.2008.064378. Epub 2009 Mar 15. J Med Genet. 2009. PMID: 19289393 Free PMC article.

8

Experience with new DNA markers for the diagnosis of cystic fibrosis.

Beaudet AL, Spence JE, Montes M, O'Brien WE, Estivill X, Farrall M, Williamson R. Beaudet AL, et al. Among authors: spence je. N Engl J Med. 1988 Jan 7;318(1):50-1. doi: 10.1056/NEJM198801073180114. N Engl J Med. 1988. PMID: 3422103 No abstract available.

9

Atypical presentation and neuropathological studies in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

Zoghbi HY, Spence JE, Beaudet AL, O'Brien WE, Goodman CJ, Gibson KM. Zoghbi HY, et al. Among authors: spence je. Ann Neurol. 1986 Sep;20(3):367-9. doi: 10.1002/ana.410200318. Ann Neurol. 1986. PMID: 3767322

10

A molecular genetic approach to the identification of isochromosomes of chromosome 21.

Shaffer LG, Jackson-Cook CK, Meyer JM, Brown JA, Spence JE. Shaffer LG, et al. Among authors: spence je. Hum Genet. 1991 Feb;86(4):375-82. doi: 10.1007/BF00201838. Hum Genet. 1991. PMID: 1671850

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