Beaudet AL - Search Results

1

Detection of clinically relevant exonic copy-number changes by array CGH.

Boone PM, Bacino CA, Shaw CA, Eng PA, Hixson PM, Pursley AN, Kang SH, Yang Y, Wiszniewska J, Nowakowska BA, del Gaudio D, Xia Z, Simpson-Patel G, Immken LL, Gibson JB, Tsai AC, Bowers JA, Reimschisel TE, Schaaf CP, Potocki L, Scaglia F, Gambin T, Sykulski M, Bartnik M, Derwinska K, Wisniowiecka-Kowalnik B, Lalani SR, Probst FJ, Bi W, Beaudet AL, Patel A, Lupski JR, Cheung SW, Stankiewicz P. Boone PM, et al. Among authors: beaudet al. Hum Mutat. 2010 Dec;31(12):1326-42. doi: 10.1002/humu.21360. Epub 2010 Nov 2. Hum Mutat. 2010. PMID: 20848651 Free PMC article.

2

Simultaneous analysis of mutant and normal alleles for multiple cystic fibrosis mutations by the ligase chain reaction.

Fang P, Bouma S, Jou C, Gordon J, Beaudet AL. Fang P, et al. Among authors: beaudet al. Hum Mutat. 1995;6(2):144-51. doi: 10.1002/humu.1380060207. Hum Mutat. 1995. PMID: 7581398

3

A robotics-assisted procedure for large scale cystic fibrosis mutation analysis.

DeMarchi JM, Richards CS, Fenwick RG, Pace R, Beaudet AL. DeMarchi JM, et al. Among authors: beaudet al. Hum Mutat. 1994;4(4):281-90. doi: 10.1002/humu.1380040409. Hum Mutat. 1994. PMID: 7866408

4

A suggested nomenclature for designating mutations.

Beaudet AL, Tsui LC. Beaudet AL, et al. Hum Mutat. 1993;2(4):245-8. doi: 10.1002/humu.1380020402. Hum Mutat. 1993. PMID: 8401532 No abstract available.

5

Advantages of RT-PCR and denaturing gradient gel electrophoresis for analysis of genomic imprinting: detection of new mouse and human expressed polymorphisms.

Nakao M, Sutcliffe JS, Beaudet AL. Nakao M, et al. Among authors: beaudet al. Hum Mutat. 1996;7(2):144-8. doi: 10.1002/(SICI)1098-1004(1996)7:2<144::AID-HUMU8>3.0.CO;2-C. Hum Mutat. 1996. PMID: 8829631

6

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.

7

The spectrum of mutations in UBE3A causing Angelman syndrome.

Fang P, Lev-Lehman E, Tsai TF, Matsuura T, Benton CS, Sutcliffe JS, Christian SL, Kubota T, Halley DJ, Meijers-Heijboer H, Langlois S, Graham JM Jr, Beuten J, Willems PJ, Ledbetter DH, Beaudet AL. Fang P, et al. Among authors: beaudet al. Hum Mol Genet. 1999 Jan;8(1):129-35. doi: 10.1093/hmg/8.1.129. Hum Mol Genet. 1999. PMID: 9887341

8

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

9

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

10

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.

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