|
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. 37–77.
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:
1260–61.
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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