-
1
-
-
0028209550
-
New insights reveal complex mechanisms involved in genomic imprinting
-
Nicholls, R.D. New insights reveal complex mechanisms involved in genomic imprinting. Am. J. Hum. Genet 54, 733-740 (1994).
-
(1994)
Am. J. Hum. Genet
, vol.54
, pp. 733-740
-
-
Nicholls, R.D.1
-
2
-
-
0001745242
-
Molecular cytogenetics of contiguous gene syndromes: Mechanisms and consequences of gene dosage imbalance
-
eds Scriver, C.R., Beaudet A.L., Sly, W.S. & Valle, D. McGraw-Hill, New York
-
Ledbetter, D.H. & Ballabio, A. Molecular cytogenetics of contiguous gene syndromes: mechanisms and consequences of gene dosage imbalance, in The Metabolic and Molecular Bases of Inherited Disease. 7th ed. (eds Scriver, C.R., Beaudet A.L., Sly, W.S. & Valle, D.) 811-639 (McGraw-Hill, New York, 1995).
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease. 7th Ed.
, pp. 811-1639
-
-
Ledbetter, D.H.1
Ballabio, A.2
-
4
-
-
0028939902
-
Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15
-
Buiting, K. et al. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nature Genet 9, 395-400 (1995).
-
(1995)
Nature Genet
, vol.9
, pp. 395-400
-
-
Buiting, K.1
-
5
-
-
0031031570
-
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
-
Matsuura, T. et al. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nature Genet 15, 74-77 (1997).
-
(1997)
Nature Genet
, vol.15
, pp. 74-77
-
-
Matsuura, T.1
-
6
-
-
0031012849
-
UBE3A/E6-AP mutations cause Angelman syndrome
-
Kishino, T., Lalande, M. & Wagstaff, J. UBE3A/E6-AP mutations cause Angelman syndrome. Nature Genet 15, 70-73 (1997).
-
(1997)
Nature Genet
, vol.15
, pp. 70-73
-
-
Kishino, T.1
Lalande, M.2
Wagstaff, J.3
-
7
-
-
0028044579
-
Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D155225E)
-
Nakao, M. et al. Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D155225E). Hum. Mol. Genet 3, 309-315 (1994).
-
(1994)
Hum. Mol. Genet
, vol.3
, pp. 309-315
-
-
Nakao, M.1
-
8
-
-
0030890115
-
The E6-AP ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region
-
Sutcliffe, J.S. et al. The E6-AP ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region. Genome Res. 7, 368-377 (1997).
-
(1997)
Genome Res.
, vol.7
, pp. 368-377
-
-
Sutcliffe, J.S.1
-
9
-
-
0023522069
-
Is Angelman syndrome an alternate result of del(15)(q11q13)?
-
Magenis, R.E., Brown, M.G., Lacy, D.A., Budden, S. & LaFranchi, S. Is Angelman syndrome an alternate result of del(15)(q11q13)? Am. J. Med. Genet 28, 829-838 (1987).
-
(1987)
Am. J. Med. Genet
, vol.28
, pp. 829-838
-
-
Magenis, R.E.1
Brown, M.G.2
Lacy, D.A.3
Budden, S.4
Lafranchi, S.5
-
10
-
-
0027467897
-
Cytogenetic and molecular analysis in Angelman syndrome
-
Zackowski, J.L. et al. Cytogenetic and molecular analysis in Angelman syndrome. Am. J. Med. Genet. 46, 7-11 (1993).
-
(1993)
Am. J. Med. Genet.
, vol.46
, pp. 7-11
-
-
Zackowski, J.L.1
-
11
-
-
0024619007
-
Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion
-
Knoll, J.H.M. et al. Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. Am. J. Med. Genet 32, 285-290 (1989).
-
(1989)
Am. J. Med. Genet
, vol.32
, pp. 285-290
-
-
Knoll, J.H.M.1
-
12
-
-
0025052050
-
Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting
-
Williams, C.A. et al. Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting. Am. J. Med. Genet 35, 350-353 (1990).
-
(1990)
Am. J. Med. Genet
, vol.35
, pp. 350-353
-
-
Williams, C.A.1
-
13
-
-
0026080417
-
Uniparental paternal disomy in Angelman's syndrome
-
Malcolm, S. et al. Uniparental paternal disomy in Angelman's syndrome. Lancet 337, 694-697 (1991).
-
(1991)
Lancet
, vol.337
, pp. 694-697
-
-
Malcolm, S.1
-
14
-
-
0028229959
-
Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes
-
Reis, A. et al. Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. Am. J. Hum. Genet 54, 741-747 (1994).
-
(1994)
Am. J. Hum. Genet
, vol.54
, pp. 741-747
-
-
Reis, A.1
-
15
-
-
0031177936
-
A mouse model of Angelman syndrome
-
Cattanach, B. et al. A mouse model of Angelman syndrome. Mamm. Genome 8, 472-478 (1997).
-
(1997)
Mamm. Genome
, vol.8
, pp. 472-478
-
-
Cattanach, B.1
-
17
-
-
0025847439
-
Puppet-like syndrome of Angelman: A pathologic and neurochemical study
-
Jay, V., Becker, L.E., Chan, F.-W. & Perry, T.L. Puppet-like syndrome of Angelman: a pathologic and neurochemical study. Neurology 41, 416-422 (1991).
-
(1991)
Neurology
, vol.41
, pp. 416-422
-
-
Jay, V.1
Becker, L.E.2
Chan, F.-W.3
Perry, T.L.4
-
18
-
-
0026633820
-
Angelman's syndrome: A neuropathological study
-
Kyriakidas, T., Hallam, LA., Hockey, A., Silberstein, P. & Kakulas, B.A. Angelman's syndrome: a neuropathological study. Acta Neuropathol. 83, 675-678 (1992).
-
(1992)
Acta Neuropathol.
, vol.83
, pp. 675-678
-
-
Kyriakidas, T.1
Hallam, L.A.2
Hockey, A.3
Silberstein, P.4
Kakulas, B.A.5
-
19
-
-
0027396829
-
Cloning and expression of the cDNA for E6-AP, a protein that mediates the interaction of the human papillomavirus E6 oncoprotein with p53.Mol
-
Huibregtse, J.M., Scheffner, M. & Howley, P.M. Cloning and expression of the cDNA for E6-AP, a protein that mediates the interaction of the human papillomavirus E6 oncoprotein with p53.Mol. Cell Biol. 13, 775-784 (1993).
-
(1993)
Cell Biol.
, vol.13
, pp. 775-784
-
-
Huibregtse, J.M.1
Scheffner, M.2
Howley, P.M.3
-
20
-
-
0028898424
-
Protein ubiquitination involving an E1-E2-E3 enzyme ubiquitin thioester cascade
-
Scheffner, M., Nuber, U. & Huibregtse, J.M. Protein ubiquitination involving an E1-E2-E3 enzyme ubiquitin thioester cascade. Nature 373, 81-83 (1995).
-
(1995)
Nature
, vol.373
, pp. 81-83
-
-
Scheffner, M.1
Nuber, U.2
Huibregtse, J.M.3
-
21
-
-
0027945263
-
Promoter-specific imprinting of the human insulin-like growth factor-II gene
-
Vu, T.H. & Hoffman, A.R. Promoter-specific imprinting of the human insulin-like growth factor-II gene. Nature 371, 714-717 (1994).
-
(1994)
Nature
, vol.371
, pp. 714-717
-
-
Vu, T.H.1
Hoffman, A.R.2
-
22
-
-
0025967857
-
Parental imprinting of the mouse insulin-like growth factor II gene
-
DeChiara, T.M., Robertson, E.J. & Efstratiadis, A. Parental imprinting of the mouse insulin-like growth factor II gene. Cell 64, 849-859 (1991).
-
(1991)
Cell
, vol.64
, pp. 849-859
-
-
DeChiara, T.M.1
Robertson, E.J.2
Efstratiadis, A.3
-
23
-
-
0002753037
-
Visualization of gene expression patterns by in situ hybridization
-
ed. Daston, G.P. CRC Press, Boca Raton, FL
-
Albrecht, U., Eichele, G., Helms, J.A. & Lu, H.-C. Visualization of gene expression patterns by in situ hybridization, in Molecular and Cellular Methods in Developmental Toxicology(ed. Daston, G.P.) 23-48 (CRC Press, Boca Raton, FL 1997).
-
(1997)
Molecular and Cellular Methods in Developmental Toxicology
, pp. 23-48
-
-
Albrecht, U.1
Eichele, G.2
Helms, J.A.3
Lu, H.-C.4
|