Beaudet AL - Search Results

1

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: beaudet al. 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.

2

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. Among authors: beaudet 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.

3

Prenatal diagnosis of cystic fibrosis by using linked DNA markers in 138 pregnancies at 1-in-4 risk.

Feldman GL, Lewiston N, Fernbach SD, O'Brien WE, Williamson R, Wainwright BJ, Beaudet AL. Feldman GL, et al. Among authors: beaudet al. Am J Med Genet. 1989 Jun;33(2):238-41. doi: 10.1002/ajmg.1320330219. Am J Med Genet. 1989. PMID: 2569827

4

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. Among authors: beaudet al. Am J Hum Genet. 1986 Dec;39(6):729-34. Am J Hum Genet. 1986. PMID: 2879439 Free PMC article.

5

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. Among authors: beaudet al. Am J Hum Genet. 1988 Feb;42(2):217-26. Am J Hum Genet. 1988. PMID: 2893543 Free PMC article.

6

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: beaudet al. Clin Chem. 1988 May;34(5):933-7. Clin Chem. 1988. PMID: 2897257

7

Exclusion of close linkage between the loci for cystic fibrosis and neuropeptide Y on human chromosome 7.

Meisler MH, Spence JE, Dixon JE, Caldwell RM, Minth CD, Beaudet AL. Meisler MH, et al. Among authors: beaudet al. Cytogenet Cell Genet. 1987;44(2-3):175-6. doi: 10.1159/000132367. Cytogenet Cell Genet. 1987. PMID: 3568765 No abstract available.

8

Angelman syndrome in an inbred family.

Beuten J, Hennekam RC, Van Roy B, Mangelschots K, Sutcliffe JS, Halley DJ, Hennekam FA, Beaudet AL, Willems PJ. Beuten J, et al. Among authors: beaudet al. Hum Genet. 1996 Mar;97(3):294-8. doi: 10.1007/BF02185757. Hum Genet. 1996. PMID: 8786067 Free article.

9

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.

Matsuura T, Sutcliffe JS, Fang P, Galjaard RJ, Jiang YH, Benton CS, Rommens JM, Beaudet AL. Matsuura T, et al. Among authors: beaudet al. Nat Genet. 1997 Jan;15(1):74-7. doi: 10.1038/ng0197-74. Nat Genet. 1997. PMID: 8988172

10

Simultaneous, multilocus FISH analysis for detection of microdeletions in the diagnostic evaluation of developmental delay and mental retardation.

Ligon AH, Beaudet AL, Shaffer LG. Ligon AH, et al. Among authors: beaudet al. Am J Hum Genet. 1997 Jul;61(1):51-9. doi: 10.1086/513904. Am J Hum Genet. 1997. PMID: 9245984 Free PMC article.

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