Beaudet AL - Search Results

1

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.

2

Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region.

Sutcliffe JS, Nakao M, Christian S, Orstavik KH, Tommerup N, Ledbetter DH, Beaudet AL. Sutcliffe JS, et al. Among authors: beaudet al. Nat Genet. 1994 Sep;8(1):52-8. doi: 10.1038/ng0994-52. Nat Genet. 1994. PMID: 7987392

3

Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E).

Nakao M, Sutcliffe JS, Durtschi B, Mutirangura A, Ledbetter DH, Beaudet AL. Nakao M, et al. Among authors: beaudet al. Hum Mol Genet. 1994 Feb;3(2):309-15. doi: 10.1093/hmg/3.2.309. Hum Mol Genet. 1994. PMID: 8004100

4

Angelman syndrome in an inbred family.

Beuten J, Hennekam RC, Van Roy B, Mangelschots K, Sutcliffe JS, Halley DJ, Hennekam FA, Beaudet AL, Willems PJ. Beuten J, et al. Among authors: beaudet al. Hum Genet. 1996 Mar;97(3):294-8. doi: 10.1007/BF02185757. Hum Genet. 1996. PMID: 8786067 Free article.

5

Validation studies of SNRPN methylation as a diagnostic test for Prader-Willi syndrome.

Kubota T, Sutcliffe JS, Aradhya S, Gillessen-Kaesbach G, Christian SL, Horsthemke B, Beaudet AL, Ledbetter DH. Kubota T, et al. Among authors: beaudet al. Am J Med Genet. 1996 Dec 2;66(1):77-80. doi: 10.1002/(SICI)1096-8628(19961202)66:1<77::AID-AJMG18>3.0.CO;2-N. Am J Med Genet. 1996. PMID: 8957518

6

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

7

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.

8

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

9

Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11-q13 with average STS spacing of 35 kb.

Christian SL, Bhatt NK, Martin SA, Sutcliffe JS, Kubota T, Huang B, Mutirangura A, Chinault AC, Beaudet AL, Ledbetter DH. Christian SL, et al. Among authors: beaudet al. Genome Res. 1998 Feb;8(2):146-57. doi: 10.1101/gr.8.2.146. Genome Res. 1998. PMID: 9477342 Free PMC article.

10

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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

465 results

Search Page

Filters