Beaudet AL - Search Results

1

Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.

Schaaf CP, Gonzalez-Garay ML, Xia F, Potocki L, Gripp KW, Zhang B, Peters BA, McElwain MA, Drmanac R, Beaudet AL, Caskey CT, Yang Y. Schaaf CP, et al. Among authors: beaudet al. Nat Genet. 2013 Nov;45(11):1405-8. doi: 10.1038/ng.2776. Epub 2013 Sep 29. Nat Genet. 2013. PMID: 24076603 Free PMC article.

2

Detection of Fabry's disease heterozygotes by hair root analysis.

Beaudet AL, Caskey CT. Beaudet AL, et al. Clin Genet. 1978 Mar;13(3):251-8. doi: 10.1111/j.1399-0004.1978.tb01178.x. Clin Genet. 1978. PMID: 205381

3

The American Society of Human Genetics statement on cystic fibrosis screening.

Caskey CT, Kaback MM, Beaudet AL. Caskey CT, et al. Among authors: beaudet al. Am J Hum Genet. 1990 Feb;46(2):393. Am J Hum Genet. 1990. PMID: 2301404 Free PMC article. No abstract available.

4

8-Azaguanine resistance in mammalian cells. I. Hypoxanthine-guanine phosphoribosyltransferase.

Gillin FD, Roufa DJ, Beaudet AL, Caskey CT. Gillin FD, et al. Among authors: beaudet al. Genetics. 1972 Oct;72(2):239-52. doi: 10.1093/genetics/72.2.239. Genetics. 1972. PMID: 4345996 Free PMC article.

5

Mammalian peptide chain termination. II. Codon specificity and GTPase activity of release factor.

Beaudet AL, Caskey CT. Beaudet AL, et al. Proc Natl Acad Sci U S A. 1971 Mar;68(3):619-24. doi: 10.1073/pnas.68.3.619. Proc Natl Acad Sci U S A. 1971. PMID: 5276771 Free PMC article.

6

Release factor translation of RNA phage terminator codons.

Beaudet AL, Caskey CT. Beaudet AL, et al. Nature. 1970 Jul 4;227(5253):38-40. doi: 10.1038/227038a0. Nature. 1970. PMID: 5422622 No abstract available.

7

Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region.

Sutcliffe JS, Nakao M, Christian S, Orstavik KH, Tommerup N, Ledbetter DH, Beaudet AL. Sutcliffe JS, et al. Among authors: beaudet al. Nat Genet. 1994 Sep;8(1):52-8. doi: 10.1038/ng0994-52. Nat Genet. 1994. PMID: 7987392

8

Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E).

Nakao M, Sutcliffe JS, Durtschi B, Mutirangura A, Ledbetter DH, Beaudet AL. Nakao M, et al. Among authors: beaudet al. Hum Mol Genet. 1994 Feb;3(2):309-15. doi: 10.1093/hmg/3.2.309. Hum Mol Genet. 1994. PMID: 8004100

9

Experience of an academic reference laboratory using automation for analysis of cystic fibrosis mutations.

DeMarchi JM, Beaudet AL, Caskey CT, Richards CS. DeMarchi JM, et al. Among authors: beaudet al. Arch Pathol Lab Med. 1994 Jan;118(1):26-32. Arch Pathol Lab Med. 1994. PMID: 8285831

10

A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene.

Mutirangura A, Jayakumar A, Sutcliffe JS, Nakao M, McKinney MJ, Buiting K, Horsthemke B, Beaudet AL, Chinault AC, Ledbetter DH. Mutirangura A, et al. Among authors: beaudet al. Genomics. 1993 Dec;18(3):546-52. doi: 10.1016/s0888-7543(11)80011-x. Genomics. 1993. PMID: 8307564

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