Beaudet A - Search Results

1

Publisher Correction: Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.

Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM. Zhang J, et al. Among authors: beaudet a. Nat Med. 2019 Apr;25(4):701-702. doi: 10.1038/s41591-019-0391-9. Nat Med. 2019. PMID: 30787481

2

Isolation, mapping, and characterization of two cDNA clones expressed in the cerebellum.

Eng CM, Durtschi BA, Zoghbi HY, Beaudet AL. Eng CM, et al. Among authors: beaudet al. Genomics. 1992 Nov;14(3):813-5. doi: 10.1016/s0888-7543(05)80196-x. Genomics. 1992. PMID: 1294119

3

Mapping of multiple subunits of the neuronal nicotinic acetylcholine receptor to chromosome 15 in man and chromosome 9 in mouse.

Eng CM, Kozak CA, Beaudet AL, Zoghbi HY. Eng CM, et al. Among authors: beaudet al. Genomics. 1991 Feb;9(2):278-82. doi: 10.1016/0888-7543(91)90253-b. Genomics. 1991. PMID: 2004777

4

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

5

Imprinting in Angelman and Prader-Willi syndromes.

Jiang Y, Tsai TF, Bressler J, Beaudet AL. Jiang Y, et al. Among authors: beaudet al. Curr Opin Genet Dev. 1998 Jun;8(3):334-42. doi: 10.1016/s0959-437x(98)80091-9. Curr Opin Genet Dev. 1998. PMID: 9691003 Review.

6

Genetics of Angelman syndrome.

Jiang Y, Lev-Lehman E, Bressler J, Tsai TF, Beaudet AL. Jiang Y, et al. Among authors: beaudet al. Am J Hum Genet. 1999 Jul;65(1):1-6. doi: 10.1086/302473. Am J Hum Genet. 1999. PMID: 10364509 Free PMC article. Review. No abstract available.

7

Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome.

Tsai TF, Jiang YH, Bressler J, Armstrong D, Beaudet AL. Tsai TF, et al. Among authors: beaudet al. Hum Mol Genet. 1999 Aug;8(8):1357-64. doi: 10.1093/hmg/8.8.1357. Hum Mol Genet. 1999. PMID: 10400982

8

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

9

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.

10

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.

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