-
1
-
-
84995191751
-
"Puppet" children: A report on three cases
-
Angelman H (1965) "Puppet" children: a report on three cases. Dev Med Child Neurol 7:681-688
-
(1965)
Dev Med Child Neurol
, vol.7
, pp. 681-688
-
-
Angelman, H.1
-
3
-
-
0028969404
-
Angelman syndrome: Consensus for diagnostic criteria
-
Williams CA, Angelman H, Clayton-Smith J, Driscoll DJ, Hendrickson JE, Knoll JHM, Magenis RE, Schinzel A, Wagstaff J, Whidden EM, Zori RT (1995) Angelman syndrome: consensus for diagnostic criteria. Am J Med Genet 56:237-238
-
(1995)
Am J Med Genet
, vol.56
, pp. 237-238
-
-
Williams, C.A.1
Angelman, H.2
Clayton-Smith, J.3
Driscoll, D.J.4
Hendrickson, J.E.5
Knoll, J.H.M.6
Magenis, R.E.7
Schinzel, A.8
Wagstaff, J.9
Whidden, E.M.10
Zori, R.T.11
-
4
-
-
0023617404
-
Clinical heterogeneity associated with deletions in the long arm of chromosome 15: Report of 3 new cases and their possible genetic significance
-
Kaplan LC, Wharton R, Elias E, Mandell F, Donlon T; Latt SA (1987) Clinical heterogeneity associated with deletions in the long arm of chromosome 15: report of 3 new cases and their possible genetic significance. Am J Med Genet:28:45-53
-
(1987)
Am J Med Genet
, vol.28
, pp. 45-53
-
-
Kaplan, L.C.1
Wharton, R.2
Elias, E.3
Mandell, F.4
Donlon, T.5
Latt, S.A.6
-
5
-
-
0023522069
-
Is Angelman syndrome an alternate result of del(15)(q11q13)?
-
Magenis RE, Brown MG, Lacy DA, Budden S, LaFranchi S (1987) Is Angelman syndrome an alternate result of del(15)(q11q13)? Am J Med Genet 28:829-838
-
(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
-
6
-
-
0024619007
-
Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion
-
Knoll JH, Nicholls RD, Magenis RE, Graham JM, Lalande M, Latt SA (1989) 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)
Am J Med Genet
, vol.32
, pp. 285-290
-
-
Knoll, J.H.1
Nicholls, R.D.2
Magenis, R.E.3
Graham, J.M.4
Lalande, M.5
Latt, S.A.6
-
7
-
-
0026599784
-
Maternal origin of deletion 15q11-q13 in 25/25 cases of Angelman syndrome
-
Clayton Smith J, Webb T, Pembrey ME, Nichols M, Malcolm S (1992) Maternal origin of deletion 15q11-q13 in 25/25 cases of Angelman syndrome. Hum Genet 88:376-378
-
(1992)
Hum Genet
, vol.88
, pp. 376-378
-
-
Clayton Smith, J.1
Webb, T.2
Pembrey, M.E.3
Nichols, M.4
Malcolm, S.5
-
8
-
-
0026010965
-
Chromosome 15 uniparental disomy is not frequent in Angelman syndrome
-
Knoll JH, Glatt KA, Nicholls RD, Malcolm S, Lalande M (1991) Chromosome 15 uniparental disomy is not frequent in Angelman syndrome. Am J Hum Genet 48:16-21
-
(1991)
Am J Hum Genet
, vol.48
, pp. 16-21
-
-
Knoll, J.H.1
Glatt, K.A.2
Nicholls, R.D.3
Malcolm, S.4
Lalande, M.5
-
9
-
-
0026080417
-
Uniparental paternal disomy in Angelman's syndrome
-
Malcolm S, Clayton-Smith J, Nichols M, Robb S, Webb T, Armour AL, Jeffreys AJ, Pembrey ME (1991) Uniparental paternal disomy in Angelman's syndrome. Lancet 337:694-697
-
(1991)
Lancet
, vol.337
, pp. 694-697
-
-
Malcolm, S.1
Clayton-Smith, J.2
Nichols, M.3
Robb, S.4
Webb, T.5
Armour, A.L.6
Jeffreys, A.J.7
Pembrey, M.E.8
-
10
-
-
0030458551
-
Parental imprinting and human disease
-
Lalande M (1996) Parental imprinting and human disease. Annu Rev Genet 30:173-195
-
(1996)
Annu Rev Genet
, vol.30
, pp. 173-195
-
-
Lalande, M.1
-
11
-
-
0019377986
-
Deletions of chromosome 15 as a cause of the Prader-Willi syndrome
-
Ledbetter DH, Riccardi VM, Airhart SD, Strobel RJ, Keenan BS, Crawford JD (1981) Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. N Engl J Med 304:325-329
-
(1981)
N Engl J Med
, vol.304
, pp. 325-329
-
-
Ledbetter, D.H.1
Riccardi, V.M.2
Airhart, S.D.3
Strobel, R.J.4
Keenan, B.S.5
Crawford, J.D.6
-
12
-
-
0022462350
-
Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome
-
Butler MG, Meaney FJ, Palmer CG (1986) Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome. Am J Med Genet 23:793-809
-
(1986)
Am J Med Genet
, vol.23
, pp. 793-809
-
-
Butler, M.G.1
Meaney, F.J.2
Palmer, C.G.3
-
13
-
-
0025181455
-
Prader-Willi syndrome: Current understanding of cure and diagnosis
-
Butler MG (1990) Prader-Willi syndrome: current understanding of cure and diagnosis. Am J Med Genet 35:319-332
-
(1990)
Am J Med Genet
, vol.35
, pp. 319-332
-
-
Butler, M.G.1
-
14
-
-
0021094659
-
Parental origin of chromosome 15 deletion in Prader-Willi syndrome
-
Butler MG, Palmer CG (1983) Parental origin of chromosome 15 deletion in Prader-Willi syndrome. Lancet 1:1285-1286
-
(1983)
Lancet
, vol.1
, pp. 1285-1286
-
-
Butler, M.G.1
Palmer, C.G.2
-
15
-
-
0024440608
-
Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome
-
Nicholls RD, Knoll JH, Butler MG, Karam S, Lalande M (1989) Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature 342:281-285
-
(1989)
Nature
, vol.342
, pp. 281-285
-
-
Nicholls, R.D.1
Knoll, J.H.2
Butler, M.G.3
Karam, S.4
Lalande, M.5
-
16
-
-
0028286005
-
DNA methylation and genomic imprinting
-
Razin A, Cedar H (1994) DNA methylation and genomic imprinting. Cell 77:473-476
-
(1994)
Cell
, vol.77
, pp. 473-476
-
-
Razin, A.1
Cedar, H.2
-
17
-
-
0026700732
-
A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes
-
Driscoll DJ, Waters MF, Williams CA, Zori RT, Glenn CC, Avidano KM, Nicholls RD (1992) A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes. Genomics 13:917-924
-
(1992)
Genomics
, vol.13
, pp. 917-924
-
-
Driscoll, D.J.1
Waters, M.F.2
Williams, C.A.3
Zori, R.T.4
Glenn, C.C.5
Avidano, K.M.6
Nicholls, R.D.7
-
18
-
-
16944363776
-
The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region
-
Jay P, Rougeulle C, Massacrier A, Moncla A, Mattei M-G, Malzac P, Roëckel N, Taviaux S, Bergé Lefranc J-L, Cau P, Berta P, Lalande M, Muscatelli F (1997) The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region. Nat Genet 17:357-361
-
(1997)
Nat Genet
, vol.17
, pp. 357-361
-
-
Jay, P.1
Rougeulle, C.2
Massacrier, A.3
Moncla, A.4
Mattei, M.-G.5
Malzac, P.6
Roëckel, N.7
Taviaux, S.8
Bergé Lefranc, J.-L.9
Cau, P.10
Berta, P.11
Lalande, M.12
Muscatelli, F.13
-
19
-
-
0026595355
-
Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13
-
Dittrich B, Robinson WP, Knoblauch H, Buiting K, Schmidt K, Gillessen-Kaesbach G, Horsthemke B (1992) Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13. Hum Genet 90:313-315
-
(1992)
Hum Genet
, vol.90
, pp. 313-315
-
-
Dittrich, B.1
Robinson, W.P.2
Knoblauch, H.3
Buiting, K.4
Schmidt, K.5
Gillessen-Kaesbach, G.6
Horsthemke, B.7
-
20
-
-
0028133293
-
Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region
-
Sutcliffe JS, Nakao M, Christian S, Orstavik KH, Tommerup N, Ledbetter DH, Beaudet AL (1994) Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nat Genet 8:52-58
-
(1994)
Nat Genet
, vol.8
, pp. 52-58
-
-
Sutcliffe, J.S.1
Nakao, M.2
Christian, S.3
Orstavik, K.H.4
Tommerup, N.5
Ledbetter, D.H.6
Beaudet, A.L.7
-
21
-
-
0030052505
-
Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene
-
Glenn CC, Saitoh S, Jong MT, Filbrandt MM, Surti U, Driscoll DJ, Nicholls RD (1996) Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene. Am J Hum Genet 58:335-346
-
(1996)
Am J Hum Genet
, vol.58
, pp. 335-346
-
-
Glenn, C.C.1
Saitoh, S.2
Jong, M.T.3
Filbrandt, M.M.4
Surti, U.5
Driscoll, D.J.6
Nicholls, R.D.7
-
22
-
-
0028289468
-
Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome
-
Reed ML, Leff SE (1994) Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome. Nat Genet 6:163-167
-
(1994)
Nat Genet
, vol.6
, pp. 163-167
-
-
Reed, M.L.1
Leff, S.E.2
-
23
-
-
0030773594
-
The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse
-
MacDonald HR, Wevrick R (1997) The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse. Hum Mol Genet 6:1873-1878
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1873-1878
-
-
MacDonald, H.R.1
Wevrick, R.2
-
24
-
-
0028939902
-
Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15
-
Buiting K, Saitoh S, Gross S, Dittrich B, Schwartz S, Nicholls RD, Horsthemke B (1995) Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nat Genet 9:395-400
-
(1995)
Nat Genet
, vol.9
, pp. 395-400
-
-
Buiting, K.1
Saitoh, S.2
Gross, S.3
Dittrich, B.4
Schwartz, S.5
Nicholls, R.D.6
Horsthemke, B.7
-
25
-
-
0029027808
-
DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63)
-
Ouweland AM van den, Est MN van der, Wesby-van Swaay E, Tijmensen TS, Los FJ, Van Hemel JO, Hennekam RC, Meijers-Heijboer HJ, Niermeijer MF, Halley DJ (1995) DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63). Hum Genet 95:562-567
-
(1995)
Hum Genet
, vol.95
, pp. 562-567
-
-
Van Den Ouweland, A.M.1
Van Der Est, M.N.2
Wesby-van Swaay, E.3
Tijmensen, T.S.4
Los, F.J.5
Van Hemel, J.O.6
Hennekam, R.C.7
Meijers-Heijboer, H.J.8
Niermeijer, M.F.9
Halley, D.J.10
-
26
-
-
0030591280
-
Detection of imprinting mutations in Angelman syndrome using a probe for exon alpha of SNRPN
-
Beuten J, Sutcliffe JS, Casey B, Beaudet AL, Hennekam RCM, Willems PJ (1996) Detection of imprinting mutations in Angelman syndrome using a probe for exon alpha of SNRPN. Am J Med Genet 63:414-415
-
(1996)
Am J Med Genet
, vol.63
, pp. 414-415
-
-
Beuten, J.1
Sutcliffe, J.S.2
Casey, B.3
Beaudet, A.L.4
Hennekam, R.C.M.5
Willems, P.J.6
-
27
-
-
16944366031
-
Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: Implication for prenatal diagnosis
-
Kubota T, Aradhya S, Macha M, Smith ACM, Surh LC, Satish J, Verp MS, Nee HL, Johnson A, Christian SL, Ledbetter DH (1997) Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis. J Med Genet 33:1011-1014
-
(1997)
J Med Genet
, vol.33
, pp. 1011-1014
-
-
Kubota, T.1
Aradhya, S.2
Macha, M.3
Smith, A.C.M.4
Surh, L.C.5
Satish, J.6
Verp, M.S.7
Nee, H.L.8
Johnson, A.9
Christian, S.L.10
Ledbetter, D.H.11
-
28
-
-
0031133081
-
Methylation-specific PCR simplifies imprinting analysis
-
Kubota T, Das S, Christian SL, Baylin SB, Herman JG, Ledbetter DH (1997) Methylation-specific PCR simplifies imprinting analysis. Nat Genet 16:16-17
-
(1997)
Nat Genet
, vol.16
, pp. 16-17
-
-
Kubota, T.1
Das, S.2
Christian, S.L.3
Baylin, S.B.4
Herman, J.G.5
Ledbetter, D.H.6
-
29
-
-
0030916936
-
A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus
-
Zeschnigk M, Lieh C, Buiting K, Doerfler W, Horsthemke B (1997) A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus. Eur J Hum Genet 5:94-98
-
(1997)
Eur J Hum Genet
, vol.5
, pp. 94-98
-
-
Zeschnigk, M.1
Lieh, C.2
Buiting, K.3
Doerfler, W.4
Horsthemke, B.5
-
30
-
-
0028229959
-
Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes
-
Reis A, Dittrich B, Greger V, Buiting K, Lalande M, Gillessen-Kaesbach G, Anvret M, Horsthemke B (1994) Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. Am J Hum Genet 54:741-747
-
(1994)
Am J Hum Genet
, vol.54
, pp. 741-747
-
-
Reis, A.1
Dittrich, B.2
Greger, V.3
Buiting, K.4
Lalande, M.5
Gillessen-Kaesbach, G.6
Anvret, M.7
Horsthemke, B.8
-
31
-
-
16044365355
-
Minimal definition of the imprinting center and fixation of a chromosome 15q11-q13 epigenotype by imprinting mutations
-
Saitoh S, Buiting K, Rogan PK, Buxton JL, Driscoll DJ, Arnemann J, König R, Malcolm S, Horsthemke B, Nicholls RD (1996) Minimal definition of the imprinting center and fixation of a chromosome 15q11-q13 epigenotype by imprinting mutations. Proc Natl Acad Sci U S A 93:7811-7815
-
(1996)
Proc Natl Acad Sci U S A
, vol.93
, pp. 7811-7815
-
-
Saitoh, S.1
Buiting, K.2
Rogan, P.K.3
Buxton, J.L.4
Driscoll, D.J.5
Arnemann, J.6
König, R.7
Malcolm, S.8
Horsthemke, B.9
Nicholls, R.D.10
-
32
-
-
10144234124
-
Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene
-
Dittrich B, Buiting K, Korn B, Rickard S, Buxton J, Saitoh S, Nicholls RD, Poustka A, Winterpacht A, Zabel B, Horsthemke B (1996) Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene. Nat Genet 14:163-170
-
(1996)
Nat Genet
, vol.14
, pp. 163-170
-
-
Dittrich, B.1
Buiting, K.2
Korn, B.3
Rickard, S.4
Buxton, J.5
Saitoh, S.6
Nicholls, R.D.7
Poustka, A.8
Winterpacht, A.9
Zabel, B.10
Horsthemke, B.11
-
33
-
-
0030762915
-
Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome
-
Bürger J, Buiting K, Dittrich B, Groß S, Lich C, Sperling K, Horsthemke B, Reis A (1997) Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome. Am J Hum Genet 61:88-93
-
(1997)
Am J Hum Genet
, vol.61
, pp. 88-93
-
-
Bürger, J.1
Buiting, K.2
Dittrich, B.3
Groß, S.4
Lich, C.5
Sperling, K.6
Horsthemke, B.7
Reis, A.8
-
34
-
-
0028219414
-
Angelman syndrome due to paternal uniparental disomy of chromosome 15 : A milder phenotype?
-
Bottani A, Robinson WP, DeLozier-Blanchet CD, Engel E, Morris MA, Schmitt MB, Thun-Hohenstein L, Schinzel A (1994) Angelman syndrome due to paternal uniparental disomy of chromosome 15 : a milder phenotype? Am J Med Genet 51:35-40
-
(1994)
Am J Med Genet
, vol.51
, pp. 35-40
-
-
Bottani, A.1
Robinson, W.P.2
DeLozier-Blanchet, C.D.3
Engel, E.4
Morris, M.A.5
Schmitt, M.B.6
Thun-Hohenstein, L.7
Schinzel, A.8
-
35
-
-
0029640958
-
Further patient with Angelman syndrome due to paternal disomy of chromosome 15 and a milder phenotype
-
Gillessen-Kaesbach G, Albrecht B, Passarge E, Horsthemke B (1995) Further patient with Angelman syndrome due to paternal disomy of chromosome 15 and a milder phenotype. Am J Med Genet 56:328-329
-
(1995)
Am J Med Genet
, vol.56
, pp. 328-329
-
-
Gillessen-Kaesbach, G.1
Albrecht, B.2
Passarge, E.3
Horsthemke, B.4
-
36
-
-
0031566376
-
Genotype and phenotype in Angelman syndrome caused by paternal UPD 15
-
Prasad C, Wagstaff J (1997) Genotype and phenotype in Angelman syndrome caused by paternal UPD 15. Am J Med Genet 70:328-329
-
(1997)
Am J Med Genet
, vol.70
, pp. 328-329
-
-
Prasad, C.1
Wagstaff, J.2
-
37
-
-
0031055875
-
Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation
-
Saitoh S, Buiting K, Cassidy SB, Conroy JM, Driscoll DJ, Gabriel JM, Gillessen-Kaesbach G, Glenn CG, Greenswag LR, Horsthemke B, Kondo I, Kuwajima K, Niikawa N, Rogan PK, Schwartz S, Seip J, Williams CA, Nicholls RD (1997) Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation. Am J Med Genet 68:195-206
-
(1997)
Am J Med Genet
, vol.68
, pp. 195-206
-
-
Saitoh, S.1
Buiting, K.2
Cassidy, S.B.3
Conroy, J.M.4
Driscoll, D.J.5
Gabriel, J.M.6
Gillessen-Kaesbach, G.7
Glenn, C.G.8
Greenswag, L.R.9
Horsthemke, B.10
Kondo, I.11
Kuwajima, K.12
Niikawa, N.13
Rogan, P.K.14
Schwartz, S.15
Seip, J.16
Williams, C.A.17
Nicholls, R.D.18
-
38
-
-
0023925498
-
The EEG in early diagnosis of the Angelman (happy puppet) syndrome
-
Boyd SG, Harden A, Patton MA (1988) The EEG in early diagnosis of the Angelman (happy puppet) syndrome. Eur J Pediatr 147:508-513
-
(1988)
Eur J Pediatr
, vol.147
, pp. 508-513
-
-
Boyd, S.G.1
Harden, A.2
Patton, M.A.3
-
39
-
-
15144357226
-
Angelman syndrome: Correlations between epilepsy phenotypes and genotypes
-
Minassian BA, DeLorey TM, Olsen RW, Philipart M, Bronstein Y, Zhang Q, Guerrini R, Van Ness P, Livet MO, Delgado-Escueta AV (1998) Angelman syndrome: correlations between epilepsy phenotypes and genotypes. Ann Neurol 43:485-493
-
(1998)
Ann Neurol
, vol.43
, pp. 485-493
-
-
Minassian, B.A.1
DeLorey, T.M.2
Olsen, R.W.3
Philipart, M.4
Bronstein, Y.5
Zhang, Q.6
Guerrini, R.7
Van Ness, P.8
Livet, M.O.9
Delgado-Escueta, A.V.10
-
40
-
-
0028181769
-
GABAA receptor beta 3 subunit gene is possibly paternally imprinted in humans
-
Kubota T, Niikawa N, Jinno Y, Ishimaru T (1994) GABAA receptor beta 3 subunit gene is possibly paternally imprinted in humans (letter). Am J Med Genet 49:452-453
-
(1994)
Am J Med Genet
, vol.49
, pp. 452-453
-
-
Kubota, T.1
Niikawa, N.2
Jinno, Y.3
Ishimaru, T.4
-
41
-
-
0030687684
-
A receptor subunit genes, using microcell-mediated chromosome transfer
-
A receptor subunit genes, using microcell-mediated chromosome transfer. Hum Mol Genet 6:2127-2133
-
(1997)
Hum Mol Genet
, vol.6
, pp. 2127-2133
-
-
Meguro, M.1
Mitsuya, K.2
Sui, H.3
Shigenami, K.4
Kugoh, H.5
Nakao, M.6
Oshimura, M.7
-
42
-
-
0030890115
-
The E6-AP ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region
-
Sutcliffe JS, Jiang Y-H, Galjaard R-J, Matsuura T, Fang P, Kubota T, Christian SL, Bressler J, Cattanach B, Ledbetter DH, Beaudet AL (1997) The E6-AP ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region. Genome Res 7:368-377
-
(1997)
Genome Res
, vol.7
, pp. 368-377
-
-
Sutcliffe, J.S.1
Jiang, Y.-H.2
Galjaard, R.-J.3
Matsuura, T.4
Fang, P.5
Kubota, T.6
Christian, S.L.7
Bressler, J.8
Cattanach, B.9
Ledbetter, D.H.10
Beaudet, A.L.11
-
43
-
-
0028044579
-
Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRN, E6-associated protein, and PAR-2 (D15S225 E)
-
Nakao M, Sutcliffe JS, Durtschi B, Mutirangura A, Ledbetter DH, Beaudet AL (1994) Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRN, E6-associated protein, and PAR-2 (D15S225 E). Hum Mol Genet 3:309-315
-
(1994)
Hum Mol Genet
, vol.3
, pp. 309-315
-
-
Nakao, M.1
Sutcliffe, J.S.2
Durtschi, B.3
Mutirangura, A.4
Ledbetter, D.H.5
Beaudet, A.L.6
-
44
-
-
0031020198
-
Angelman syndrome associated with a pericentric inversion 15 (q11.2:q24.3)
-
Greger V, Knoll JHM, Wagstaff J, Woolf E, Lieske P, Glatt H, Benn PA, Rosengren SS, Lalande M (1997) Angelman syndrome associated with a pericentric inversion 15 (q11.2:q24.3). Am J Hum Genet 60:574-580
-
(1997)
Am J Hum Genet
, vol.60
, pp. 574-580
-
-
Greger, V.1
Knoll, J.H.M.2
Wagstaff, J.3
Woolf, E.4
Lieske, P.5
Glatt, H.6
Benn, P.A.7
Rosengren, S.S.8
Lalande, M.9
-
45
-
-
0031012849
-
UBE3A/E6-AP mutations cause Angelman syndrome
-
Kishino T, Lalande M, Wagstaff J (1997) UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet 15:70-73
-
(1997)
Nat Genet
, vol.15
, pp. 70-73
-
-
Kishino, T.1
Lalande, M.2
Wagstaff, J.3
-
46
-
-
0031031570
-
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
-
Matsuura T, Sutcliffe JS, Fang P, Galjaard R-J, Jiang Y-H, Benton CS, Rommens JM, Beaudet AL (1997) De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat Genet 15:74-77
-
(1997)
Nat Genet
, vol.15
, pp. 74-77
-
-
Matsuura, T.1
Sutcliffe, J.S.2
Fang, P.3
Galjaard, R.-J.4
Jiang, Y.-H.5
Benton, C.S.6
Rommens, J.M.7
Beaudet, A.L.8
-
47
-
-
0029036701
-
A family of proteins structurally and functionally related to the E6-AP ubiquitin-protein ligase
-
Huibregtse JM, Scheffner M, Beaudenon S, Howley PM (1995) A family of proteins structurally and functionally related to the E6-AP ubiquitin-protein ligase. Proc Natl Acad Sci U S A 92:2563-2567
-
(1995)
Proc Natl Acad Sci U S A
, vol.92
, pp. 2563-2567
-
-
Huibregtse, J.M.1
Scheffner, M.2
Beaudenon, S.3
Howley, P.M.4
-
48
-
-
0030457014
-
Ubiquitin-dependent protein degradation
-
Hochstrasser M (1996) Ubiquitin-dependent protein degradation. Annu Rev Genet 30:405-439
-
(1996)
Annu Rev Genet
, vol.30
, pp. 405-439
-
-
Hochstrasser, M.1
-
49
-
-
0025932933
-
A cellular protein mediates association of p53 with the E6 oncoprotein of human papillomavirus types 16 or 18
-
Huibregtse JM, Scheffner M, Howley PM (1991) A cellular protein mediates association of p53 with the E6 oncoprotein of human papillomavirus types 16 or 18. EMBO J 10:4129-4135
-
(1991)
EMBO J
, vol.10
, pp. 4129-4135
-
-
Huibregtse, J.M.1
Scheffner, M.2
Howley, P.M.3
-
50
-
-
0027396829
-
Cloning and expression of the cDNA for E6-AP, a protein that mediates the interaction of the human papillomavirus E6 oncoprotein with p53
-
Huibregtse JM, Scheffner M, Howley PM (1993) 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)
Mol Cell Biol
, vol.13
, pp. 775-784
-
-
Huibregtse, J.M.1
Scheffner, M.2
Howley, P.M.3
-
51
-
-
0025847439
-
Puppet-like syndrome of Angelman: A pathologic and neurochemical study
-
Jay V, Becker LE, Chan F-W, Perry TL (1991) Puppet-like syndrome of Angelman: a pathologic and neurochemical study. Neurology 41:416-422
-
(1991)
Neurology
, vol.41
, pp. 416-422
-
-
Jay, V.1
Becker, L.E.2
Chan, F.-W.3
Perry, T.L.4
-
52
-
-
0031569842
-
The human E6-AP gene encodes three potential protein isoforms generated by differential splicing
-
Yanamoto Y, Huibregste JM, Howley PM (1997) The human E6-AP gene encodes three potential protein isoforms generated by differential splicing. Genomics 41:263-266
-
(1997)
Genomics
, vol.41
, pp. 263-266
-
-
Yanamoto, Y.1
Huibregste, J.M.2
Howley, P.M.3
-
53
-
-
0031939597
-
Genomic organization of the UBE3A/E6-AP gene and related pseudogenes
-
Kishino T, Wagstaff J (1998) Genomic organization of the UBE3A/E6-AP gene and related pseudogenes. Genomics 47:101-107
-
(1998)
Genomics
, vol.47
, pp. 101-107
-
-
Kishino, T.1
Wagstaff, J.2
-
54
-
-
0031228039
-
The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain
-
Rougeulle C, Glatt H, Lalande M (1997) The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain. Nat Genet 17:14-15
-
(1997)
Nat Genet
, vol.17
, pp. 14-15
-
-
Rougeulle, C.1
Glatt, H.2
Lalande, M.3
-
55
-
-
0031230614
-
Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain
-
Vu TH, Hoffman AR (1997) Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain. Nat Genet 17:12-13
-
(1997)
Nat Genet
, vol.17
, pp. 12-13
-
-
Vu, T.H.1
Hoffman, A.R.2
-
56
-
-
4243447757
-
UBE3A/E6-AP mutations in Angelman syndrome indicate a role for the ubiquitin pathway in brain development
-
Kishino T, Lalande M, Wagstaff J (1997) UBE3A/E6-AP mutations in Angelman syndrome indicate a role for the ubiquitin pathway in brain development. Am J Hum Genet 61:A39
-
(1997)
Am J Hum Genet
, vol.61
-
-
Kishino, T.1
Lalande, M.2
Wagstaff, J.3
-
57
-
-
24044541342
-
Mutation analysis of the E6-AP ubiquitin ligase (UBE3A) gene in Angelman syndrome
-
Matsuura T, Fang P, Tsai T-F, Sutcliffe JS, Galjaard R-J, Jiang Y-H, Benton CS, Meijers-Heijboer EJ, Halley DJ, Kubota T, Christian S, Ledbetter DH, Beaudet AL (1997) Mutation analysis of the E6-AP ubiquitin ligase (UBE3A) gene in Angelman syndrome. Am J Hum Genet 61:A314
-
(1997)
Am J Hum Genet
, vol.61
-
-
Matsuura, T.1
Fang, P.2
Tsai, T.-F.3
Sutcliffe, J.S.4
Galjaard, R.-J.5
Jiang, Y.-H.6
Benton, C.S.7
Meijers-Heijboer, E.J.8
Halley, D.J.9
Kubota, T.10
Christian, S.11
Ledbetter, D.H.12
Beaudet, A.L.13
-
58
-
-
0028856310
-
Molecular analysis of 36 mutations at the mouse pink-eyed dilution (p) locus
-
Johnson DK, Stubbs LJ, Culiat CT, Montgomery CS, Russell LB, Rinchik EM (1995) Molecular analysis of 36 mutations at the mouse pink-eyed dilution (p) locus. Genetics 141:1563-1571
-
(1995)
Genetics
, vol.141
, pp. 1563-1571
-
-
Johnson, D.K.1
Stubbs, L.J.2
Culiat, C.T.3
Montgomery, C.S.4
Russell, L.B.5
Rinchik, E.M.6
-
59
-
-
0031177936
-
A candidate model for Angelman syndrome in the mouse
-
Cattanach BM, Barr J, Beechey CV, Martin J, Noebels JL, Jones J (1997) A candidate model for Angelman syndrome in the mouse. Mamm Genome 8:472-478
-
(1997)
Mamm Genome
, vol.8
, pp. 472-478
-
-
Cattanach, B.M.1
Barr, J.2
Beechey, C.V.3
Martin, J.4
Noebels, J.L.5
Jones, J.6
-
60
-
-
0030879482
-
Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons
-
Albrecht U, Sutcliffe JS, Cattanach BM, Beechey CV, Amstrong D, Eichele G, AL (1997) Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons. Nat Genet 17:75-78
-
(1997)
Nat Genet
, vol.17
, pp. 75-78
-
-
Albrecht, U.1
Sutcliffe, J.S.2
Cattanach, B.M.3
Beechey, C.V.4
Amstrong, D.5
Eichele, G.6
L, A.7
-
61
-
-
0030670449
-
Competition - A common motif for the imprinting mechanism?
-
Barlow DP (1998) Competition - a common motif for the imprinting mechanism? EMBO J 16:6899-6905
-
(1998)
EMBO J
, vol.16
, pp. 6899-6905
-
-
Barlow, D.P.1
-
63
-
-
0030694713
-
Imprinted expression of the Igf2r gene depends on an intronic CpG island
-
Wutz A, Smrzka OW, Schweifer N, Schellander K, Wagner EF, Barlow DP (1997) Imprinted expression of the Igf2r gene depends on an intronic CpG island. Nature 389:745-749
-
(1997)
Nature
, vol.389
, pp. 745-749
-
-
Wutz, A.1
Smrzka, O.W.2
Schweifer, N.3
Schellander, K.4
Wagner, E.F.5
Barlow, D.P.6
-
64
-
-
0032067559
-
An imprinted antisense overlaps UBE3A and a second maternally expressed transcript
-
Rougeulle C, Cardoso C, Fontes M, Colleaux L, Lalande M (1998) An imprinted antisense overlaps UBE3A and a second maternally expressed transcript. Nat Genet 19:15-16
-
(1998)
Nat Genet
, vol.19
, pp. 15-16
-
-
Rougeulle, C.1
Cardoso, C.2
Fontes, M.3
Colleaux, L.4
Lalande, M.5
-
65
-
-
0030730287
-
Multiple imprinted sense and antisense transcripts, differential methylation and tandem repeats in a putative imprinting control region upstream of mouse Igf2
-
Moore T, Constancia M, Zubair M, Bailleul B, Feil R, Sasaki H, Reik W (1997) Multiple imprinted sense and antisense transcripts, differential methylation and tandem repeats in a putative imprinting control region upstream of mouse Igf2. Proc Natl Acad Sci USA 94:12509-12514
-
(1997)
Proc Natl Acad Sci USA
, vol.94
, pp. 12509-12514
-
-
Moore, T.1
Constancia, M.2
Zubair, M.3
Bailleul, B.4
Feil, R.5
Sasaki, H.6
Reik, W.7
-
66
-
-
0030972389
-
Nuclear antisense RNA induces extensive adenosine modifications and nuclear retention of target transcripts
-
Kumar M, Carmichael GG (1997) Nuclear antisense RNA induces extensive adenosine modifications and nuclear retention of target transcripts. Proc Natl Acad Sci U S A 94:3542-3547
-
(1997)
Proc Natl Acad Sci U S A
, vol.94
, pp. 3542-3547
-
-
Kumar, M.1
Carmichael, G.G.2
-
67
-
-
0030051809
-
A mammalian RNA editing enzyme
-
Melcher T, Maas S, Herb A, Sprengel R, Seeburg PH, Higuchi M (1996) A mammalian RNA editing enzyme. Nature 379:460-464
-
(1996)
Nature
, vol.379
, pp. 460-464
-
-
Melcher, T.1
Maas, S.2
Herb, A.3
Sprengel, R.4
Seeburg, P.H.5
Higuchi, M.6
|