Beaudet AL - Search Results

1

Chromosomal microarray versus karyotyping for prenatal diagnosis.

Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, Savage M, Platt LD, Saltzman D, Grobman WA, Klugman S, Scholl T, Simpson JL, McCall K, Aggarwal VS, Bunke B, Nahum O, Patel A, Lamb AN, Thom EA, Beaudet AL, Ledbetter DH, Shaffer LG, Jackson L. Wapner RJ, et al. Among authors: beaudet al. N Engl J Med. 2012 Dec 6;367(23):2175-84. doi: 10.1056/NEJMoa1203382. N Engl J Med. 2012. PMID: 23215555 Free PMC article. Clinical Trial.

2

Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis.

Lemna WK, Feldman GL, Kerem B, Fernbach SD, Zevkovich EP, O'Brien WE, Riordan JR, Collins FS, Tsui LC, Beaudet AL. Lemna WK, et al. Among authors: beaudet al. N Engl J Med. 1990 Feb 1;322(5):291-6. doi: 10.1056/NEJM199002013220503. N Engl J Med. 1990. PMID: 2296270 Free article.

3

A trisomic child after in vitro fertilization: result of paternal nondisjunction.

Hejtmancik JF, Ledbetter DH, Beaudet AL, Quigley MM. Hejtmancik JF, et al. Among authors: beaudet al. Fertil Steril. 1985 Dec;44(6):830-1. doi: 10.1016/s0015-0282(16)49046-1. Fertil Steril. 1985. PMID: 2416598 Free article. No abstract available.

4

Prenatal detection of 46,XY,rec(5),dup q, inv(5)(p13q33) using DNA analysis, flow cytometry, and in situ hybridization to supplement classical cytogenetic analysis.

Martin AO, Northrup H, Ledbetter DH, Trask B, van den Engh G, Le Beau MM, Beaudet AL, Gray JW, Sekhon G, Krassikoff N, et al. Martin AO, et al. Among authors: beaudet al. Am J Med Genet. 1988 Nov;31(3):643-54. doi: 10.1002/ajmg.1320310320. Am J Med Genet. 1988. PMID: 3228143

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. Among authors: beaudet al. Hum Genet. 1987 May;76(1):5-10. doi: 10.1007/BF00283042. Hum Genet. 1987. PMID: 3471704

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

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

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

Comparative genomic hybridization and prenatal diagnosis.

Van den Veyver IB, Beaudet AL. Van den Veyver IB, et al. Among authors: beaudet al. Curr Opin Obstet Gynecol. 2006 Apr;18(2):185-91. doi: 10.1097/01.gco.0000192986.22718.cc. Curr Opin Obstet Gynecol. 2006. PMID: 16601480 Review.

10

Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization.

Sahoo T, Cheung SW, Ward P, Darilek S, Patel A, del Gaudio D, Kang SH, Lalani SR, Li J, McAdoo S, Burke A, Shaw CA, Stankiewicz P, Chinault AC, Van den Veyver IB, Roa BB, Beaudet AL, Eng CM. Sahoo T, et al. Among authors: beaudet al. Genet Med. 2006 Nov;8(11):719-27. doi: 10.1097/01.gim.0000245576.47154.63. Genet Med. 2006. PMID: 17108764 Free article.

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