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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1996 May;58(5):1085–1088.

Diagnostic testing for Prader-Willi and Angleman syndromes: Report of the ASHG/ACMG Test and Technology Transfer Committee.

PMCID: PMC1914606  PMID: 8651269

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Buiting K., Saitoh S., Gross S., Dittrich B., Schwartz S., Nicholls R. D., Horsthemke B. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nat Genet. 1995 Apr;9(4):395–400. doi: 10.1038/ng0495-395. [DOI] [PubMed] [Google Scholar]
  2. Delach J. A., Rosengren S. S., Kaplan L., Greenstein R. M., Cassidy S. B., Benn P. A. Comparison of high resolution chromosome banding and fluorescence in situ hybridization (FISH) for the laboratory evaluation of Prader-Willi syndrome and Angelman syndrome. Am J Med Genet. 1994 Aug 1;52(1):85–91. doi: 10.1002/ajmg.1320520117. [DOI] [PubMed] [Google Scholar]
  3. Gillessen-Kaesbach G., Gross S., Kaya-Westerloh S., Passarge E., Horsthemke B. DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome. J Med Genet. 1995 Feb;32(2):88–92. doi: 10.1136/jmg.32.2.88. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Glenn C. C., Porter K. A., Jong M. T., Nicholls R. D., Driscoll D. J. Functional imprinting and epigenetic modification of the human SNRPN gene. Hum Mol Genet. 1993 Dec;2(12):2001–2005. doi: 10.1093/hmg/2.12.2001. [DOI] [PubMed] [Google Scholar]
  5. Knoll J. H., Asamoah A., Pletcher B. A., Wagstaff J. Interstitial duplication of proximal 22q: phenotypic overlap with cat eye syndrome. Am J Med Genet. 1995 Jan 16;55(2):221–224. doi: 10.1002/ajmg.1320550214. [DOI] [PubMed] [Google Scholar]
  6. Kuwano A., Mutirangura A., Dittrich B., Buiting K., Horsthemke B., Saitoh S., Niikawa N., Ledbetter S. A., Greenberg F., Chinault A. C. Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis. Hum Mol Genet. 1992 Sep;1(6):417–425. doi: 10.1093/hmg/1.6.417. [DOI] [PubMed] [Google Scholar]
  7. Ledbetter D. H., Engel E. Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. Hum Mol Genet. 1995;4(Spec No):1757–1764. doi: 10.1093/hmg/4.suppl_1.1757. [DOI] [PubMed] [Google Scholar]
  8. Mutirangura A., Greenberg F., Butler M. G., Malcolm S., Nicholls R. D., Chakravarti A., Ledbetter D. H. Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy. Hum Mol Genet. 1993 Feb;2(2):143–151. doi: 10.1093/hmg/2.2.143. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Nicholls R. D. Genomic imprinting and candidate genes in the Prader-Willi and Angelman syndromes. Curr Opin Genet Dev. 1993 Jun;3(3):445–456. doi: 10.1016/0959-437x(93)90119-a. [DOI] [PubMed] [Google Scholar]
  10. Reis A., Dittrich B., Greger V., Buiting K., Lalande M., Gillessen-Kaesbach G., Anvret M., Horsthemke B. Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. Am J Hum Genet. 1994 May;54(5):741–747. [PMC free article] [PubMed] [Google Scholar]
  11. Sutcliffe J. S., Nakao M., Christian S., Orstavik K. H., Tommerup N., Ledbetter D. H., Beaudet A. L. Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nat Genet. 1994 Sep;8(1):52–58. doi: 10.1038/ng0994-52. [DOI] [PubMed] [Google Scholar]

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