-
1
-
-
33644865491
-
Angelman syndrome 2005: Updated consensus for diagnostic criteria
-
Williams CA, Beaudet AL, Clayton-Smith J et al: Angelman syndrome 2005: Updated consensus for diagnostic criteria. Am J Med Genet A 2006; 140: 413-418.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 413-418
-
-
Williams, C.A.1
Beaudet, A.L.2
Clayton-Smith, J.3
-
2
-
-
0027474136
-
Clinical research on Angelman syndrome in the United Kingdom: Observations on 82 affected individuals
-
Clayton-Smith J: Clinical research on Angelman syndrome in the United Kingdom: Observations on 82 affected individuals. Am J Med Genet 1993; 46: 12-15.
-
(1993)
Am J Med Genet
, vol.46
, pp. 12-15
-
-
Clayton-Smith, J.1
-
3
-
-
0028969404
-
Angelman syndrome: Consensus for diagnostic criteria. Angelman Syndrome Foundation
-
Williams CA, Angelman H, Clayton-Smith J et al: Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation. Am J Med Genet 1995; 56: 237-238.
-
(1995)
Am J Med Genet
, vol.56
, pp. 237-238
-
-
Williams, C.A.1
Angelman, H.2
Clayton-Smith, J.3
-
4
-
-
0026651961
-
Angelman syndrome: Clinical profile
-
Zori RT, Hendrickson J, Woolven S, Whidden EM, Gray B, Williams CA: Angelman syndrome: Clinical profile. J Child Neurol 1992; 7: 270-280.
-
(1992)
J Child Neurol
, vol.7
, pp. 270-280
-
-
Zori, R.T.1
Hendrickson, J.2
Woolven, S.3
Whidden, E.M.4
Gray, B.5
Williams, C.A.6
-
5
-
-
12744269033
-
Neurological aspects of the Angelman syndrome
-
Williams CA: Neurological aspects of the Angelman syndrome. Brain Dev 2005; 27: 88-94.
-
(2005)
Brain Dev
, vol.27
, pp. 88-94
-
-
Williams, C.A.1
-
7
-
-
0031050904
-
Evolution of epilepsy and EEG findings in Angelman syndrome
-
Laan LA, Renier WO, Arts WF et al: Evolution of epilepsy and EEG findings in Angelman syndrome. Epilepsia 1997; 38: 195-199.
-
(1997)
Epilepsia
, vol.38
, pp. 195-199
-
-
Laan, L.A.1
Renier, W.O.2
Arts, W.F.3
-
9
-
-
0027092556
-
Epilepsy in Angelman syndrome associated with chromosome 15q deletion
-
Matsumoto A, Kumagai T, Miura K, Miyazaki S, Hayakawa C, Yamanaka T: Epilepsy in Angelman syndrome associated with chromosome 15q deletion. Epilepsia 1992; 33: 1083-1090.
-
(1992)
Epilepsia
, vol.33
, pp. 1083-1090
-
-
Matsumoto, A.1
Kumagai, T.2
Miura, K.3
Miyazaki, S.4
Hayakawa, C.5
Yamanaka, T.6
-
10
-
-
0028803823
-
Seizure and EEG patterns in Angelman's syndrome
-
Viani F, Romeo A, Viri M et al: Seizure and EEG patterns in Angelman's syndrome. J Child Neurol 1995; 10: 467-471.
-
(1995)
J Child Neurol
, vol.10
, pp. 467-471
-
-
Viani, F.1
Romeo, A.2
Viri, M.3
-
11
-
-
85047680139
-
Ophthalmic manifestations of Angelman syndrome
-
Mah ML, Wallace DK, Powell CM: Ophthalmic manifestations of Angelman syndrome. J AAPOS 2000; 4: 248-249.
-
(2000)
J AAPOS
, vol.4
, pp. 248-249
-
-
Mah, M.L.1
Wallace, D.K.2
Powell, C.M.3
-
12
-
-
0141680210
-
Retinochoroidal atrophy in two adult patients with Angelman syndrome
-
Rufa A, Dotti MT, Orrico A, Battisti C, Carletto F, Federico A: Retinochoroidal atrophy in two adult patients with Angelman syndrome. Am J Med Genet A 2003; 122A: 155-158.
-
(2003)
Am J Med Genet A
, vol.122 A
, pp. 155-158
-
-
Rufa, A.1
Dotti, M.T.2
Orrico, A.3
Battisti, C.4
Carletto, F.5
Federico, A.6
-
13
-
-
0037328861
-
Angelman syndrome: A review of the clinical and genetic aspects
-
Clayton-SmithAJ, Laan L: Angelman syndrome: a review of the clinical and genetic aspects. J Med Genet 2003; 40: 87-95.
-
(2003)
J Med Genet
, vol.40
, pp. 87-95
-
-
SmithAJ, C.1
Laan, L.2
-
14
-
-
40149093718
-
Vagal hypertonia and anesthesia in Angelman syndrome
-
Gardner JC, Turner CS, Ririe DG: Vagal hypertonia and anesthesia in Angelman syndrome. Paediatr Anaesth 2008; 18: 348-349.
-
(2008)
Paediatr Anaesth
, vol.18
, pp. 348-349
-
-
Gardner, J.C.1
Turner, C.S.2
Ririe, D.G.3
-
15
-
-
31144440906
-
Asystole during outbursts of laughing in a child with Angelman syndrome
-
Vanagt WY, Pulles-Heintzberger CF, Vernooy K, Cornelussen RN, Delhaas T: Asystole during outbursts of laughing in a child with Angelman syndrome. Pediatr Cardiol 2005; 26: 866-868.
-
(2005)
Pediatr Cardiol
, vol.26
, pp. 866-868
-
-
Vanagt, W.Y.1
Pulles-Heintzberger, C.F.2
Vernooy, K.3
Cornelussen, R.N.4
Delhaas, T.5
-
16
-
-
0034537523
-
Angelman syndrome in three adult patients with atypical presentation and severe neurological complications
-
Van Buggenhout GJ, Descheemaeker MJ, Thiry P, Trommelen JC, Hamel BC, Fryns JP: Angelman syndrome in three adult patients with atypical presentation and severe neurological complications. Genet Couns 2000; 11: 363-373.
-
(2000)
Genet Couns
, vol.11
, pp. 363-373
-
-
Van Buggenhout, G.J.1
Descheemaeker, M.J.2
Thiry, P.3
Trommelen, J.C.4
Hamel, B.C.5
Fryns, J.P.6
-
18
-
-
34547514295
-
Behavioral treatment of drooling: A methodological critique of the literature with clinical guidelines and suggestions for future research
-
Van der Burg JJ, Didden R, Jongerius PH, Rotteveel JJ: Behavioral treatment of drooling: A methodological critique of the literature with clinical guidelines and suggestions for future research. Behav Modif 2007; 31: 573-594.
-
(2007)
Behav Modif
, vol.31
, pp. 573-594
-
-
Van der Burg, J.J.1
Didden, R.2
Jongerius, P.H.3
Rotteveel, J.J.4
-
20
-
-
70350380505
-
Melatonin is effective in treating sleep problems in Angelman syndrome but problems in metabolising melatonin may be part of the Angelman phenotype
-
Braam W, Smits MG, Didden R, Curfs LMG: Melatonin is effective in treating sleep problems in Angelman syndrome but problems in metabolising melatonin may be part of the Angelman phenotype. J Intellect Disabil Res 2008; 52: 814.
-
(2008)
J Intellect Disabil Res
, vol.52
, pp. 814
-
-
Braam, W.1
Smits, M.G.2
Didden, R.3
Curfs, L.M.G.4
-
21
-
-
35548945717
-
The overlapping spectrum of Rett and AngAlman syndromes: A clinical review
-
Jedele KB: The overlapping spectrum of Rett and AngAlman syndromes: a clinical review. Semin Pediatr Neurol 2007; 14: 108-117.
-
(2007)
Semin Pediatr Neurol
, vol.14
, pp. 108-117
-
-
Jedele, K.B.1
-
23
-
-
0034522528
-
Molecular-clinical spectrum of the ATR-X syndrome
-
Gibbons RJ, Higgs DR: Molecular-clinical spectrum of the ATR-X syndrome. Am J Med Genet 2000; 97: 204-212.
-
(2000)
Am J Med Genet
, vol.97
, pp. 204-212
-
-
Gibbons, R.J.1
Higgs, D.R.2
-
24
-
-
45349105098
-
Deletion 22q13.3 syndrome
-
Phelan MC: Deletion 22q13.3 syndrome. Orphanet J Rare Dis 2008; 3: 14.
-
(2008)
Orphanet J Rare Dis
, vol.3
, pp. 14
-
-
Phelan, M.C.1
-
25
-
-
0033651946
-
Prader-Willi and Angelman syndromes: Sister imprinted disorders
-
Cassidy SB, Dykens E, Williams CA: Prader-Willi and Angelman syndromes: sister imprinted disorders. Am J Med Genet 2000; 97: 136-146.
-
(2000)
Am J Med Genet
, vol.97
, pp. 136-146
-
-
Cassidy, S.B.1
Dykens, E.2
Williams, C.A.3
-
26
-
-
0033005827
-
Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: Clinical manifestations and genetic counselling
-
Moncla A, Malzac P, Livet MO et al: Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: Clinical manifestations and genetic counselling. J Med Genet 1999; 36 554-560.
-
(1999)
J Med Genet
, vol.36
, pp. 554-560
-
-
Moncla, A.1
Malzac, P.2
Livet, M.O.3
-
27
-
-
19144363371
-
Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion
-
Smith A, Wiles C, Haan E et al: Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion. J Med Genet 1996; 33: 107-112.
-
(1996)
J Med Genet
, vol.33
, pp. 107-112
-
-
Smith, A.1
Wiles, C.2
Haan, E.3
-
28
-
-
0026010965
-
Chromosome 15 uniparental disomy is not frequent in Angelman syndrome
-
Knoll JH, Glatt KA, Nicholls RD, Malcolm S, Lalande M: Chromosome 15 uniparental disomy is not frequent in Angelman syndrome. Am J Hum Genet 1991; 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
-
29
-
-
59349096137
-
A multiplex molecular assay for the detection of uniparental disomy for human chromosome 15
-
Giardina E, Peconi C, Cascella R, Sinibaldi C, Nardone AM, Novelli G: A multiplex molecular assay for the detection of uniparental disomy for human chromosome 15. Electrophoresis 2008; 29: 4775-4779.
-
(2008)
Electrophoresis
, vol.29
, pp. 4775-4779
-
-
Giardina, E.1
Peconi, C.2
Cascella, R.3
Sinibaldi, C.4
Nardone, A.M.5
Novelli, G.6
-
30
-
-
0034890364
-
Complex and segmental uniparentaR disomy (UPD): Review and lessons from rare chromosomal complements
-
Kotzot D: Complex and segmental uniparentaR disomy (UPD): review and lessons from rare chromosomal complements. J Med Genet 2001; 38 497-507.
-
(2001)
J Med Genet
, vol.38
, pp. 497-507
-
-
Kotzot, D.1
-
31
-
-
0034096456
-
Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15
-
Robinson WP, Christian SL, Kuchinka BD et al: Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15. Clin Genet 2000; 57: 349-358.
-
(2000)
Clin Genet
, vol.57
, pp. 349-358
-
-
Robinson, W.P.1
Christian, S.L.2
Kuchinka, B.D.3
-
32
-
-
0028219414
-
Angelman syndrome due to paternal uniparental disomy of chromosome 15: A milder phenotype?
-
Bottani A, Robinson WP, DeLozier-Blanchet CD et al: Angelman syndrome due to paternal uniparental disomy of chromosome 15: A milder phenotype? Am J Med Genet 1994; 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
-
33
-
-
0030963040
-
Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy
-
Smith A, Marks R, Haan E, Dixon J, Trent RJ: Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy. J Med Genet 1997; 34: 426-429.
-
(1997)
J Med Genet
, vol.34
, pp. 426-429
-
-
Smith, A.1
Marks, R.2
Haan, E.3
Dixon, J.4
Trent, R.J.5
-
34
-
-
0031055875
-
Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation
-
Saitoh S, Buiting K, Cassidy SB et al: Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation. Am J Med Genet 1997; 68: 195-206.
-
(1997)
Am J Med Genet
, vol.68
, pp. 195-206
-
-
Saitoh, S.1
Buiting, K.2
Cassidy, S.B.3
-
35
-
-
8444240032
-
Somatic mosaicism in patients with Angelman syndrome and an imprinting defect
-
Nazlican H, Zeschnigk M, Claussen U et al: Somatic mosaicism in patients with Angelman syndrome and an imprinting defect. Hum Mol Genet 2004; 13: 2547-2555.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 2547-2555
-
-
Nazlican, H.1
Zeschnigk, M.2
Claussen, U.3
-
36
-
-
0031012849
-
-
Kishino T, Lalande M, Wagstaff J: UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet 1997; 15: 70-73. Erratum in Nat Genet 1997; 77: 54-59.
-
Kishino T, Lalande M, Wagstaff J: UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet 1997; 15: 70-73. Erratum in Nat Genet 1997; 77: 54-59.
-
-
-
-
37
-
-
0031031570
-
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
-
Matsuura T, Sutcliffe JS, Fang P et al: De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat Genet 1997; 15: 74-77.
-
(1997)
Nat Genet
, vol.15
, pp. 74-77
-
-
Matsuura, T.1
Sutcliffe, J.S.2
Fang, P.3
-
38
-
-
0033358742
-
Genetics of Angelman syndrome
-
Jiang Y, Lev-Lehman E, Bressler J, Tsai TF, Beaudet AL: Genetics of Angelman syndrome. Am J Hum Genet 1999; 65: 1-6.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1-6
-
-
Jiang, Y.1
Lev-Lehman, E.2
Bressler, J.3
Tsai, T.F.4
Beaudet, A.L.5
-
39
-
-
18244383565
-
Distinct phenotypes distinguish the molecular classes of Angelman syndrome
-
Lossie AC, Whitney MM, Amidon D et al: Distinct phenotypes distinguish the molecular classes of Angelman syndrome. J Med Genet 2001; 38: 834-845.
-
(2001)
J Med Genet
, vol.38
, pp. 834-845
-
-
Lossie, A.C.1
Whitney, M.M.2
Amidon, D.3
-
40
-
-
49449111926
-
Mechanisms of imprinting of the Prader-Willi/ Angelman region
-
Horsthemke B, Wagstaff J: Mechanisms of imprinting of the Prader-Willi/ Angelman region. Am J Med Genet A 2008; 146A: 2041-2052.
-
(2008)
Am J Med Genet A
, vol.146 A
, pp. 2041-2052
-
-
Horsthemke, B.1
Wagstaff, J.2
-
41
-
-
0032574634
-
Genetic coTnseling in Angelman syndrome: The challenges of multiple causes
-
Stalker HJ, Williams CA: Genetic coTnseling in Angelman syndrome: the challenges of multiple causes. Am J Med Genet 1998; 77: 54-59.
-
(1998)
Am J Med Genet
, vol.77
, pp. 54-59
-
-
Stalker, H.J.1
Williams, C.A.2
-
42
-
-
0033879513
-
An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family
-
Kokkonen H, Leisti J: An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family. Hum Genet 2000; 107: 83-85.
-
(2000)
Hum Genet
, vol.107
, pp. 83-85
-
-
Kokkonen, H.1
Leisti, J.2
-
43
-
-
0035003096
-
Disruption of the bipartite imprinting center in a family with Angelman syndrome
-
Buiting K, Barnicoat A, Lich C, Pembrey M, Malcolm S, Horsthemke B: Disruption of the bipartite imprinting center in a family with Angelman syndrome. Am J Hum Genet 2001; 68: 1290-1294.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1290-1294
-
-
Buiting, K.1
Barnicoat, A.2
Lich, C.3
Pembrey, M.4
Malcolm, S.5
Horsthemke, B.6
-
44
-
-
0030762915
-
Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome
-
Bürger J, Buiting K, Dittrich B et al: Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome. Am J Hum Genet 1997; 61: 88-93.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 88-93
-
-
Bürger, J.1
Buiting, K.2
Dittrich, B.3
-
45
-
-
17344362235
-
Mutation analysis of UBE3A in Angelman syndrome patients
-
Malzac P, Webber H, Moncla A et al: Mutation analysis of UBE3A in Angelman syndrome patients. Am J Hum Genet 1998; 62: 1353-1360.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 1353-1360
-
-
Malzac, P.1
Webber, H.2
Moncla, A.3
|