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What is Angelman syndrome?


Genomic Imprinting and Uniparental Disomy in Angelman and Prader-Willi Syndromes: A Review Robert D. Nicholls.

Angelman and Prader-Willi Syndrome: A Magnetic Resonance Imaging Study of Differences in Cerebral Structure Christiana M. Leonard, Charles A. Williams, Robert D. Nicholls, O. Frank Agee, Kytja K.S. Voeller, Janice C. Honeyman, and Edward V. Staab

Clinical Research on Angelman Syndrome in the United Kingdom: Observations on 82 Affected Individuals Jill Clayton-Smith Department of Medical Genetics, St. Mary's Hospital, Manchester, England

HEATHER'S STORY: The Long Road for a Family in Search of a Diagnosis By Diane Wilcox

Angelman Syndrome: Clinical Profile Roberto T. Zori, MD; Jill Hendrickson, MS; Sheila Woolven, Elaine M. Whidden, MSN, ARNP; Brian Gray, MS; Charles A. Williams, MD


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Glenn CC, Porter KA, Jong MTC, Nicholls RD, Driscoll DJ. Functional imprinting and epigenetic modification of the human SNRPN gene. Hum Mol Genet 1993b;2:2001-5.

Ozcelik T, Leff S, Robinson W, et al. Small nuclear ribonucleoprotein polypeptide N (SNRPN), and expressed gene in the Prader-Willi syndrome critical region. Nat Genet 1992;2:265-9.

Driscoll DJ, Waters MF, Williams CA, et al. A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes. Genomics l992;13:917- 24.

Glenn CC, Nicholls RD, Robinson WP, et al. Modification of 15q11-ql3 DNA methylation imprints in unique Angelman and Prader-Willi patients. Hum Mol Genet 1993a;2:1377-82.

Nicholls RD. New insights reveal complex mechanisms involved in genomic imprinting. Am J Hum Genet 1994;54:733-40.

Reis A, Dittrich B, Greger V, et al. Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. Am J Hum Genet 1994;54:741-7.

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Nicholls RD. Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review. Am J Med Genet 1993;46:16-25.

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Wagstaff J, Shugart YY, Lalande M. Linkage analysis in familial Angelman syndrome. Am J Hum Genet 1993;53:105-12.

Knoll JH, Sinnett D, Wagstaff J, et al. Fish ordering of reference markers and of the gene for the alpha 5 subunit of the gamma aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal regions. Hum Mol Genet 1993;2:183-9.

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Zori RT, Nicholls R, Driscoll DJ, Williams CA. Clinical findings in Angelman individuals without a molecular deletion or uniparental disomy. In: Cassidy S, editor. Proceedings of the International Conference on Prader-Willi Syndrome and Other Chromosome 15q Deletion Disorders. NATO Advanced Studies Institutes Series H: Cell Biology. Heidelberg: Springer- Verlag, 1992;61:237.

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