The Principles of Clinical Cytogenetics - Extra Materials - Springer

534 Jin-Chen Wang
84. Bürger, J., Buiting, K., Dittrich, B., et al. (1997) Different mechanisms and recurrence risks of imprinting defects in
Angelman syndrome. Am. J. Hum. Genet. 61, 88–93.
85. Kishino, T., Lalande, M., and Wagstaff, J. (1997) UBE3A/E6-AP mutations cause Angelman syndrome. Nature Genet.
15, 70–73.
86. Holm, V.A., Cassidy, S.B., Butler, M.G., et al. (1993) Prader–Willi syndrome: consensus diagnostic criteria. Pediatrics
91, 398–402.
87. Pfeifer, K. (2000) Mechanisms of genomic impinting. Am. J. Hum. Genet. 67, 777–787.
88. Lee, S., Kozlov, S., Hernandez, L., et al. (2000) Expression and imprinting of MAGEL2 suggest a role in Prader–Willi
syndrome and the homologous murine imprinting phenotype. Hum. Mol. Genet. 9, 1813–1819.
89. de los Santos, T., Schweizer, J., Rees, C.A., and Francke, U. (2000) Small evolutionarily conserved RNA, resembling
C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader–Willi deletion region,
which is highly expressed in brain. Am. J. Hum. Genet. 67, 1067–1082.
90. Lee, S. and Wevrick, R. (2000) Identification of novel imprinted transcripts in the Prader–Willi syndrome and Angelman
syndrome deletion region: further evidence for regional imprinting control. Am. J. Hum. Genet. 66, 848–858.
91. Angelman, H. (1965) “Puppet” children: a report on three cases. Dev. Med. Child. Neurol. 7, 681–688.
92. Jiang, Y., Lev-Lehman, E., Bressler, J., Tsai, T.-F., and Beaudet, A.L. (1999) Genetics of Angelman syndrome. Am. J.
Hum. Genet. 65, 1–6
93. Nakao, M., Sutcliffe, J.S., Durtschi, B., Mutirangura, A., Ledbetter, D.H., and Beaudet, A.L. (1994) Imprinting analysis
of three genes in the Prader–Willi/Angelman region: SNRPN, E6–associated protein, and PAR-2 (D15S225E).
Hum. Mol. Genet. 3, 309–315.
94. Vu, T.H. and Hoffman, A.R. (1997) Impringint of the Angelman syndrome gene, UBE3A, is restricted to brain. Nature
Genet. 17, 12–13.
95. Rougeulle, C., Glatt, H., and Lalande, M. (1997) The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted
in brain. Nature Genet. 17, 14–15.
96. Meguro, M., Kashiwagi, A., Mitsuya, K., et al. (2001) A novel maternally expressed gene, ATP10C, encodes a putative
aminophospholipid translocase associated with Angelman syndrome. Nature Genet. 28, 19–20.
97. Buiting, K., Saitoh, S., Gross, S., et al. (1995) Inherited microdeletions in the Angelman and Prader–Willi syndromes
define an imprinting centre on human chromosome 15. Nature Genet. 9, 395–400.
98. Ohta, T., Buiting, K., Kokkonen, H., et al. (1999) Molecular mechanism of Angelman syndrome in two large families
involves an imprinting mutation. Am. J. Hum. Genet. 64, 385–396.
99. Buiting, K., Lich, C., Cottrell, S., Barnicoat, A., and Horsthemke, B. (1999) A 5-kb imprinting center deletion in a
family with Angelman syndrome reduces the shortest region of deletion overlap to 880 bp. Hum. Genet. 105, 665–666.
100. Buiting, K., Barnicoat, A., Lich, C., Pembrey, M., Malcolm, S., and Horsthemke, B. (2001) Disruption of the bipartite
imprinting center in a family with Angelman syndrome. Am. J. Hum. Genet. 68, 1290–1294.
101. Beckwith, J.B. (1969) Macroglossia, omphalocele, adrenal cytomegaly, gigantism, and hyperplastic visceromegaly.
Birth Defects 5, 188.
102. Pettenati, M.J., Haines, J.L., Higgins, R.R., Wappner, R.S., Palmer, C.G., and Weaver, D.D. (1986) Wiedemann–
Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature. Hum.
Genet. 74, 143–154.
103. Henry, I., Bonaiti-Pellie, C., Chehensse, V., et al. (1991) Uniparental paternal disomy in a genetic cancer-predisposing
syndrome. Nature 351, 665–667.
104. Catchpoole, D., Lam, W.W.K., Valler, D., et al. (1997) Epigenetic modification and uniparental inheritance of H19 in
Beckwith–Wiedemann syndrome. J. Med. Genet. 34, 353–359.
105. Brown, K.W., Gardner, A., Williams, J.C., Mott, M.G., McDermott, A., and Maitland, N.J. (1992) Paternal origin of
11p15 duplications in the Beckwith–Wiedemann syndrome. A new case and review of the literature. Cancer Genet.
Cytogenet. 58, 66–70.
106. Weksberg, R., Teshima, I., Williams, B.R., et al. (1993) Molecular characterization of cytogenetic alterations associated
with the Beckwith–Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for
BWS is imprinted. Hum. Mol. Genet. 2, 549–556.
107. Tommerup, N., Brandt, C.A., Pedersen, S., Bolund, L., and Kamper, J. (1993) Sex dependent transmission of Beckwith–
Wiedemann syndrome associated with a reciprocal translocation t(9;11)(p11.2;p15.5). J. Med. Genet. 30, 958–961.
108. Weksberg, R., Nishikawa, J., Caluseriu, O., et al. (2001) Tumor development in the Beckwith–Wiedemann syndrome is
associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1.
Hum. Mol. Genet. 10, 2989–3000.
109. Moutou, C., Junien, C., Henry, I., and Bonaiti-Pellie, C. (1992) Beckwith–Wiedemann syndrome: a demonstration of
the mechanisms responsible for the excess of transmitting females. J. Med. Genet. 29, 217–220.
110. Viljoen, D. and Ramesar, R. (1992) Evidence for paternal imprinting in familial Beckwith–Wiedemann syndrome.
J. Med. Genet. 29, 221–225.
111. Hatada, I., Hirofumi, O., Fukushima, Y., et al. (1996) An imprinted gene p57 KIP2 is mutated in Beckwith–Wiedemann
syndrome. Nature Genet. 14, 171–173.