Prader-Willi Syndrome
The Genetics
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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. Nature Genetics. 1995; 9: 395-400.

Cassidy S.B, Lai L, Erickson R.P, Magnuson L, Thomas E, Gendron R, Herrmann. Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi Syndrome due to maternal disomy. American Journal of Human Genetics. 1992; 51: 701-708.

Christian S.L, Robinson W.P, Huang B, Mutirangura A, Line M.R, Nakao M, Surti U, Chakravarty A, Ledbetter D.H. Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman Syndrome patients. American Journal of Human Genetics. 1995; 57: 40-48.

Dittrich B, Robinson W.P, Knoblauch H, Buiting K, Schmidt, Gillessen-Kaesbach G, Hosrthemke B. Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13. Hum Genet. 1992. 90: 313-315.

Driscoll, D.J. (1994) Genomic imprinting in humans. In Friedmann, T. (ed.), Molecular Genetic Medicine. Vol. 4. Academic Press, New York, pp. 3777.

Glenn C.G, Driscoll D.J, Yang T.P, Nicholls R.D. Genomic imprinting: potential function and mechanisms revealed by the Prader-Willi and Angelman Syndromes. Molecular Human Reproduction. 1997; 3(4): 321-332.

Glenn C.C, Porter K.A, Jong M.T.C, Nicholls, R.D, Driscoll D.J. Functional imprinting and epigenetic modification of the human SNRPN gene. Hum. molec. Genetics. 2: 1993; 2001-2003.

Nicholls, R.D., Saitoh, S. and Horsthemke, B. (1998). Imprinting in Prader-
Willi and Angelman syndromes. TIG 14: 194-200 In Fridman C, Koiffmann C.P. Genomic imprinting: genetic mechanisms and phenotypic consequences in Prader-Willi and Angelman sundromes. Genetics and Molecular Biology. 2000. 23(4): 715-724.

Prader A, Labhart A, Willi H. Ein syndrome von adipositas, Kleinwuchs, Kryptorchismus and Oligophreniech myatonieartigen Zustand in neugoborenanalter. Schweiz Med Wochenschr 1956; 86: 126061.

Reed M.L, Leff S.E. Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi Syndrome. Nature Genetics. 1994; 6: 163-167.

Robinson W.P, Bottani A, Yagana X, Balakrishman J, Binkert F, Machler M, Prader A, Schinzel A. Molecular, Cytogentic and clinical investigations of Prader-Willi Syndrome patients. American Journal of Human Genetics. 1991; 49: 1219-1234.

Smith A, Loughnan G, Steinbeck K. Death in adults with Prader-Willi Syndrome may be correlated with maternal uniparental disomy. Journal of Medical Genetics. 2003; 40:e63.

Sutcliffe J.S et al. Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nature Genetics. 1994; 8: 52-58.

Wevrick R, Kerns J.A, Francke U. Identification of a novel paternally expressed gene in the Prader-Willi syndrome region. Hum. molec. Genetics. 1994; 3 (10): 1877-1882.

Rogan, P.K, Seip J.R, White L.M, Wenger S.L, Steele M.W, Sperling M.A, Menon R, Knoll J.H.M. Relaxation of imprinting in Prader-Willi Syndrome. Human Genetics. 1998; 103: 694-701.

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Sally Price 2007  Leeds