Driscoll DJ - Search Results

1

Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene.

Glenn CC, Saitoh S, Jong MT, Filbrandt MM, Surti U, Driscoll DJ, Nicholls RD. Glenn CC, et al. Among authors: driscoll dj. Am J Hum Genet. 1996 Feb;58(2):335-46. Am J Hum Genet. 1996. PMID: 8571960 Free PMC article.

2

A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes.

Driscoll DJ, Waters MF, Williams CA, Zori RT, Glenn CC, Avidano KM, Nicholls RD. Driscoll DJ, et al. Genomics. 1992 Aug;13(4):917-24. doi: 10.1016/0888-7543(92)90001-9. Genomics. 1992. PMID: 1505981

3

Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation.

Williams CA, Angelman H, Clayton-Smith J, Driscoll DJ, Hendrickson JE, Knoll JH, Magenis RE, Schinzel A, Wagstaff J, Whidden EM, et al. Williams CA, et al. Among authors: driscoll dj. Am J Med Genet. 1995 Mar 27;56(2):237-8. doi: 10.1002/ajmg.1320560224. Am J Med Genet. 1995. PMID: 7625452 No abstract available.

4

Cytogenetic and molecular analysis in Angelman syndrome.

Zackowski JL, Nicholls RD, Gray BA, Bent-Williams A, Gottlieb W, Harris PJ, Waters MF, Driscoll DJ, Zori RT, Williams CA. Zackowski JL, et al. Among authors: driscoll dj. Am J Med Genet. 1993 Apr 1;46(1):7-11. doi: 10.1002/ajmg.1320460104. Am J Med Genet. 1993. PMID: 8098583

5

Functional imprinting and epigenetic modification of the human SNRPN gene.

Glenn CC, Porter KA, Jong MT, Nicholls RD, Driscoll DJ. Glenn CC, et al. Among authors: driscoll dj. Hum Mol Genet. 1993 Dec;2(12):2001-5. doi: 10.1093/hmg/2.12.2001. Hum Mol Genet. 1993. PMID: 8111367

6

Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients.

Glenn CC, Nicholls RD, Robinson WP, Saitoh S, Niikawa N, Schinzel A, Horsthemke B, Driscoll DJ. Glenn CC, et al. Among authors: driscoll dj. Hum Mol Genet. 1993 Sep;2(9):1377-82. doi: 10.1093/hmg/2.9.1377. Hum Mol Genet. 1993. PMID: 8242060 Free article.

7

Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion.

Zori RT, Lupski JR, Heju Z, Greenberg F, Killian JM, Gray BA, Driscoll DJ, Patel PI, Zackowski JL. Zori RT, et al. Among authors: driscoll dj. Am J Med Genet. 1993 Sep 15;47(4):504-11. doi: 10.1002/ajmg.1320470414. Am J Med Genet. 1993. PMID: 8256814

8

Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome.

Clayton-Smith J, Driscoll DJ, Waters MF, Webb T, Andrews T, Malcolm S, Pembrey ME, Nicholls RD. Clayton-Smith J, et al. Among authors: driscoll dj. Am J Med Genet. 1993 Oct 1;47(5):683-6. doi: 10.1002/ajmg.1320470519. Am J Med Genet. 1993. PMID: 8266996

9

Allele-specific replication timing of imprinted gene regions.

Kitsberg D, Selig S, Brandeis M, Simon I, Keshet I, Driscoll DJ, Nicholls RD, Cedar H. Kitsberg D, et al. Among authors: driscoll dj. Nature. 1993 Jul 29;364(6436):459-63. doi: 10.1038/364459a0. Nature. 1993. PMID: 8332218

10

Familial cryptic translocation resulting in Angelman syndrome:implications for imprinting or location of the Angelman gene?

Burke LW, Wiley JE, Glenn CC, Driscoll DJ, Loud KM, Smith AJ, Kushnick T. Burke LW, et al. Among authors: driscoll dj. Am J Hum Genet. 1996 Apr;58(4):777-84. Am J Hum Genet. 1996. PMID: 8644742 Free PMC article.

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