Beaudet AL - Search Results

1

22q13.3 deletion syndrome: clinical and molecular analysis using array CGH.

Dhar SU, del Gaudio D, German JR, Peters SU, Ou Z, Bader PI, Berg JS, Blazo M, Brown CW, Graham BH, Grebe TA, Lalani S, Irons M, Sparagana S, Williams M, Phillips JA 3rd, Beaudet AL, Stankiewicz P, Patel A, Cheung SW, Sahoo T. Dhar SU, et al. Among authors: beaudet al. Am J Med Genet A. 2010 Mar;152A(3):573-81. doi: 10.1002/ajmg.a.33253. Am J Med Genet A. 2010. PMID: 20186804 Free PMC article.

2

Uniparental disomy as a mechanism for human genetic disease.

Spence JE, Perciaccante RG, Greig GM, Willard HF, Ledbetter DH, Hejtmancik JF, Pollack MS, O'Brien WE, Beaudet AL. Spence JE, et al. Among authors: beaudet al. Am J Hum Genet. 1988 Feb;42(2):217-26. Am J Hum Genet. 1988. PMID: 2893543 Free PMC article.

3

A study of restriction fragment length polymorphisms at the human alpha-1-antitrypsin locus.

Matteson KJ, Ostrer H, Chakravarti A, Buetow KH, O'Brien WE, Beaudet AL, Phillips JA. Matteson KJ, et al. Among authors: beaudet al. Hum Genet. 1985;69(3):263-7. doi: 10.1007/BF00293037. Hum Genet. 1985. PMID: 2984106

4

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.

5

Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons.

Albrecht U, Sutcliffe JS, Cattanach BM, Beechey CV, Armstrong D, Eichele G, Beaudet AL. Albrecht U, et al. Among authors: beaudet al. Nat Genet. 1997 Sep;17(1):75-8. doi: 10.1038/ng0997-75. Nat Genet. 1997. PMID: 9288101

6

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

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

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.

9

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

10

A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A.

Jiang YH, Sahoo T, Michaelis RC, Bercovich D, Bressler J, Kashork CD, Liu Q, Shaffer LG, Schroer RJ, Stockton DW, Spielman RS, Stevenson RE, Beaudet AL. Jiang YH, et al. Among authors: beaudet al. Am J Med Genet A. 2004 Nov 15;131(1):1-10. doi: 10.1002/ajmg.a.30297. Am J Med Genet A. 2004. PMID: 15389703

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