Beaudet AL - Search Results

1

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.

Lalani SR, Shaw C, Wang X, Patel A, Patterson LW, Kolodziejska K, Szafranski P, Ou Z, Tian Q, Kang SH, Jinnah A, Ali S, Malik A, Hixson P, Potocki L, Lupski JR, Stankiewicz P, Bacino CA, Dawson B, Beaudet AL, Boricha FM, Whittaker R, Li C, Ware SM, Cheung SW, Penny DJ, Jefferies JL, Belmont JW. Lalani SR, et al. Among authors: beaudet al. Eur J Hum Genet. 2013 Feb;21(2):173-81. doi: 10.1038/ejhg.2012.155. Epub 2012 Aug 29. Eur J Hum Genet. 2013. PMID: 22929023 Free PMC article.

2

Expression of human CD18 in murine granulocytes and improved efficiency for infection of deficient human lymphoblasts.

Wilson RW, Yorifuji T, Lorenzo I, Smith W, Anderson DC, Belmont JW, Beaudet AL. Wilson RW, et al. Among authors: beaudet al. Hum Gene Ther. 1993 Feb;4(1):25-34. doi: 10.1089/hum.1993.4.1-25. Hum Gene Ther. 1993. PMID: 8096398

3

Characterization of the human beta4 nAChR gene and polymorphisms in CHRNA3 and CHRNB4.

Lev-Lehman E, Bercovich D, Xu W, Stockton DW, Beaudet AL. Lev-Lehman E, et al. Among authors: beaudet al. J Hum Genet. 2001;46(7):362-6. doi: 10.1007/PL00010921. J Hum Genet. 2001. PMID: 11450844

4

Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.

Yu W, Ballif BC, Kashork CD, Heilstedt HA, Howard LA, Cai WW, White LD, Liu W, Beaudet AL, Bejjani BA, Shaw CA, Shaffer LG. Yu W, et al. Among authors: beaudet al. Hum Mol Genet. 2003 Sep 1;12(17):2145-52. doi: 10.1093/hmg/ddg230. Epub 2003 Jul 15. Hum Mol Genet. 2003. PMID: 12915473

5

Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders.

Shaw CJ, Shaw CA, Yu W, Stankiewicz P, White LD, Beaudet AL, Lupski JR. Shaw CJ, et al. Among authors: beaudet al. J Med Genet. 2004 Feb;41(2):113-9. doi: 10.1136/jmg.2003.012831. J Med Genet. 2004. PMID: 14757858 Free PMC article.

6

Cognitive and adaptive behavior profiles of children with Angelman syndrome.

Peters SU, Goddard-Finegold J, Beaudet AL, Madduri N, Turcich M, Bacino CA. Peters SU, et al. Among authors: beaudet al. Am J Med Genet A. 2004 Jul 15;128A(2):110-3. doi: 10.1002/ajmg.a.30065. Am J Med Genet A. 2004. PMID: 15213998

7

Autism in Angelman syndrome: implications for autism research.

Peters SU, Beaudet AL, Madduri N, Bacino CA. Peters SU, et al. Among authors: beaudet al. Clin Genet. 2004 Dec;66(6):530-6. doi: 10.1111/j.1399-0004.2004.00362.x. Clin Genet. 2004. PMID: 15521981

8

Development and validation of a CGH microarray for clinical cytogenetic diagnosis.

Cheung SW, Shaw CA, Yu W, Li J, Ou Z, Patel A, Yatsenko SA, Cooper ML, Furman P, Stankiewicz P, Lupski JR, Chinault AC, Beaudet AL. Cheung SW, et al. Among authors: beaudet al. Genet Med. 2005 Jul-Aug;7(6):422-32. doi: 10.1097/01.gim.0000170992.63691.32. Genet Med. 2005. PMID: 16024975 Free article.

9

Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations.

Sahoo T, Peters SU, Madduri NS, Glaze DG, German JR, Bird LM, Barbieri-Welge R, Bichell TJ, Beaudet AL, Bacino CA. Sahoo T, et al. Among authors: beaudet al. J Med Genet. 2006 Jun;43(6):512-6. doi: 10.1136/jmg.2005.036913. Epub 2005 Sep 23. J Med Genet. 2006. PMID: 16183798 Free PMC article.

10

Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements.

Sahoo T, Shaw CA, Young AS, Whitehouse NL, Schroer RJ, Stevenson RE, Beaudet AL. Sahoo T, et al. Among authors: beaudet al. Am J Med Genet A. 2005 Dec 1;139A(2):106-13. doi: 10.1002/ajmg.a.31000. Am J Med Genet A. 2005. PMID: 16284940

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