-
1
-
-
84868238127
-
Evaluation of a behavioral treatment package to reduce sleep problems in children with Angelman syndrome
-
Allen KD, Kuhn BR, DeHaai KA, Wallace DP. 2013. Evaluation of a behavioral treatment package to reduce sleep problems in children with Angelman syndrome. Res Dev Disabil 34:676–686.
-
(2013)
Res Dev Disabil
, vol.34
, pp. 676-686
-
-
Allen, K.D.1
Kuhn, B.R.2
DeHaai, K.A.3
Wallace, D.P.4
-
2
-
-
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
-
-
84901292089
-
Angelman syndrome: Review of clinical and molecular aspects
-
Bird LM. 2014. Angelman syndrome: Review of clinical and molecular aspects. Appl Clin Genet 7:93–104.
-
(2014)
Appl Clin Genet
, vol.7
, pp. 93-104
-
-
Bird, L.M.1
-
4
-
-
81955161925
-
A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome
-
Bird LM, Tan W, Bacino CA, Peters SU, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Gentile JK, Glaze DG. 2011. A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome. Am J Med Genet a 155:2956–2963.
-
(2011)
Am J Med Genet a
, vol.155
, pp. 2956-2963
-
-
Bird, L.M.1
Tan, W.2
Bacino, C.A.3
Peters, S.U.4
Skinner, S.A.5
Anselm, I.6
Barbieri-Welge, R.7
Bauer-Carlin, A.8
Gentile, J.K.9
Glaze, D.G.10
-
5
-
-
0015257593
-
Angelman's (Happy Puppet) Syndrome
-
Berg JM, Pakula Z. 1972. Angelman's (Happy Puppet) Syndrome. Am J Dis Child 123:72–74.
-
(1972)
Am J Dis Child
, vol.123
, pp. 72-74
-
-
Berg, J.M.1
Pakula, Z.2
-
7
-
-
0023925498
-
The EEG in early diagnosis of the Angelman (happy puppet) syndrome
-
Boyd S, Harden A, Patton M. 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.1
Harden, A.2
Patton, M.3
-
8
-
-
0031770939
-
Angelman syndrome: Are the estimates too low?
-
Buckley RH, Dinno N, Weber P. 1998. Angelman syndrome: Are the estimates too low? Am J Med Genet 80:385–390.
-
(1998)
Am J Med Genet
, vol.80
, pp. 385-390
-
-
Buckley, R.H.1
Dinno, N.2
Weber, P.3
-
9
-
-
84881491974
-
Angelman syndrome patient management: 5 Years of clinical experience
-
Budisteanu M, Papuc SM, Tutulan-Cunita A, Craiu D, Barca D, Iliescu C, Arghir A. 2013. Angelman syndrome patient management: 5 Years of clinical experience. Int J Disabil Hum Develop 12:379–384.
-
(2013)
Int J Disabil Hum Develop
, vol.12
, pp. 379-384
-
-
Budisteanu, M.1
Papuc, S.M.2
Tutulan-Cunita, A.3
Craiu, D.4
Barca, D.5
Iliescu, C.6
Arghir, A.7
-
10
-
-
0030442292
-
Phenotypic differences in Angelman syndrome patients: Imprinting mutations show less frequently microcephaly and hypopigmentation than deletions
-
Buerger J, Kunze J, Sperling K, Reis A. 1996. Phenotypic differences in Angelman syndrome patients: Imprinting mutations show less frequently microcephaly and hypopigmentation than deletions. Am J Med Genet 66:221–226.
-
(1996)
Am J Med Genet
, vol.66
, pp. 221-226
-
-
Buerger, J.1
Kunze, J.2
Sperling, K.3
Reis, A.4
-
11
-
-
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
-
12
-
-
0028964548
-
Clinical profile of Angelman syndrome at different ages
-
Buntinx IM, Hennekam R, Brouwer OF, Stroink H, Beuten J, Mangelschots K, Fryns J. 1995. Clinical profile of Angelman syndrome at different ages. Am J Med Genet 56:176–183.
-
(1995)
Am J Med Genet
, vol.56
, pp. 176-183
-
-
Buntinx, I.M.1
Hennekam, R.2
Brouwer, O.F.3
Stroink, H.4
Beuten, J.5
Mangelschots, K.6
Fryns, J.7
-
14
-
-
0031970998
-
Prader-Willi and Angelman syndromes: Disorders of genomic imprinting
-
Cassidy SB, Schwartz S. 1998. Prader-Willi and Angelman syndromes: Disorders of genomic imprinting. Medicine 77:140–151.
-
(1998)
Medicine
, vol.77
, pp. 140-151
-
-
Cassidy, S.B.1
Schwartz, S.2
-
15
-
-
0027474136
-
Clinical research on Angelman syndrome in the United Kingdom: Observations on 82 affected individuals
-
Clayton-Smith J. 1993. Clinical research on Angelman syndrome in the United Kingdom: Observations on 82 affected individuals. Am J Med Genet 46:12–15.
-
(1993)
Am J Med Genet
, vol.46
, pp. 12-15
-
-
Clayton-Smith, J.1
-
16
-
-
0034945669
-
Angelman syndrome: evolution of the phenotype in adolescents and adults
-
Clayton-Smith J. 2001. Angelman syndrome: evolution of the phenotype in adolescents and adults. Dev Med Child Neurol 43:476–480.
-
(2001)
Dev Med Child Neurol
, vol.43
, pp. 476-480
-
-
Clayton-Smith, J.1
-
17
-
-
0037328861
-
Angelman syndrome: A review of the clinical and genetic aspects
-
Clayton-Smith J, Laan L. 2003. Angelman syndrome: A review of the clinical and genetic aspects. J Med Genet 40:87–95.
-
(2003)
J Med Genet
, vol.40
, pp. 87-95
-
-
Clayton-Smith, J.1
Laan, L.2
-
19
-
-
84871724167
-
Dental findings and special care in patients with Angelman syndrome: A report of three cases
-
de Queiroz AM, de Siqueira Melara T, Fernandes Ferreira PD, Lucisano MP, De Rossi A, Nelson-Filho P Bezerra Silva RA. 2013. Dental findings and special care in patients with Angelman syndrome: A report of three cases. Spec Care Dentist 33:40–45.
-
(2013)
Spec Care Dentist
, vol.33
, pp. 40-45
-
-
de Queiroz, A.M.1
de Siqueira Melara, T.2
Fernandes Ferreira, P.D.3
Lucisano, M.P.4
De Rossi, A.5
Nelson-Filho, P.6
Bezerra Silva, R.A.7
-
20
-
-
0024230893
-
Angelman (“happy puppet”) syndrome—Seven new cases documented by cerebral computed tomography: review of the literature
-
Dörries A, Spohr H, Kunze J. 1988. Angelman (“happy puppet”) syndrome—Seven new cases documented by cerebral computed tomography: review of the literature. Eur J Pediatr 148:270–273.
-
(1988)
Eur J Pediatr
, vol.148
, pp. 270-273
-
-
Dörries, A.1
Spohr, H.2
Kunze, J.3
-
21
-
-
0016563416
-
Fourteen happy puppets
-
Elian M. 1975. Fourteen happy puppets. Clin Pediatr (Phila) 14:902–908.
-
(1975)
Clin Pediatr (Phila)
, vol.14
, pp. 902-908
-
-
Elian, M.1
-
23
-
-
41549149493
-
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome
-
Gilfillan GD, Selmer KK, Roxrud I, Smith R, Kyllerman M, Eiklid K, Kroken M, Mattingsdal M, Egeland T, Stenmark H. 2008. SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. Am J Hum Genet 82:1003–1010.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 1003-1010
-
-
Gilfillan, G.D.1
Selmer, K.K.2
Roxrud, I.3
Smith, R.4
Kyllerman, M.5
Eiklid, K.6
Kroken, M.7
Mattingsdal, M.8
Egeland, T.9
Stenmark, H.10
-
25
-
-
84855807682
-
Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons
-
Huang H, Allen JA, Mabb AM, King IF, Miriyala J, Taylor-Blake B, Sciaky N, Dutton JW, Lee H, Chen X. 2012. Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons. Nature 481:185–189.
-
(2012)
Nature
, vol.481
, pp. 185-189
-
-
Huang, H.1
Allen, J.A.2
Mabb, A.M.3
King, I.F.4
Miriyala, J.5
Taylor-Blake, B.6
Sciaky, N.7
Dutton, J.W.8
Lee, H.9
Chen, X.10
-
26
-
-
0033358742
-
Genetics of Angelman syndrome
-
Jiang Y, Lev-Lehman E, Bressler J, Tsai T, Beaudet AL. 1999. Genetics of Angelman syndrome. Am J Hum Genet 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.4
Beaudet, A.L.5
-
27
-
-
84880248825
-
Do the physiotherapy results make us happy in a case with 'happy puppet' (Angelman) syndrome?
-
/bcr.06.2010.3081
-
Kara OK, Mutlu A, Gunel MK, Haliloglu G. 2010. Do the physiotherapy results make us happy in a case with 'happy puppet' (Angelman) syndrome? BMJ Case Rep 2010:10–1136. /bcr.06.2010.3081.
-
(2010)
BMJ Case Rep
, vol.2010
, pp. 10-1136
-
-
Kara, O.K.1
Mutlu, A.2
Gunel, M.K.3
Haliloglu, G.4
-
29
-
-
0343591718
-
On the prevalence of Angelman syndrome
-
Kyllerman M. 1995. On the prevalence of Angelman syndrome. Am J Med Genet 59:405–405.
-
(1995)
Am J Med Genet
, vol.59
, pp. 405
-
-
Kyllerman, M.1
-
31
-
-
0028014593
-
Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism
-
Lee S, Nicholls RD, Bundey S, Laxova R, Musarella M, Spritz RA. 1994. Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. N Engl J Med 330:529–534.
-
(1994)
N Engl J Med
, vol.330
, pp. 529-534
-
-
Lee, S.1
Nicholls, R.D.2
Bundey, S.3
Laxova, R.4
Musarella, M.5
Spritz, R.A.6
-
32
-
-
18244383565
-
Distinct phenotypes distinguish the molecular classes of Angelman syndrome
-
Lossie AC, Whitney MM, Amidon D, Dong HJ, Chen P, Theriaque D, Hutson A, Nicholls RD, Zori RT, Williams CA, Driscoll DJ. 2001. Distinct phenotypes distinguish the molecular classes of Angelman syndrome. J Med Genet 38:834–845.
-
(2001)
J Med Genet
, vol.38
, pp. 834-845
-
-
Lossie, A.C.1
Whitney, M.M.2
Amidon, D.3
Dong, H.J.4
Chen, P.5
Theriaque, D.6
Hutson, A.7
Nicholls, R.D.8
Zori, R.T.9
Williams, C.A.10
Driscoll, D.J.11
-
33
-
-
17344362235
-
Mutation analysis of UBE3A in Angelman syndrome patients
-
Malzac P, Webber H, Moncla A, Graham JM, Kukolich M, Williams C, Pagon RA, Ramsdell LA, Kishino T, Wagstaff J. 1998. Mutation analysis of UBE3A in Angelman syndrome patients. Am J Hum Genet 62:1353–1360.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 1353-1360
-
-
Malzac, P.1
Webber, H.2
Moncla, A.3
Graham, J.M.4
Kukolich, M.5
Williams, C.6
Pagon, R.A.7
Ramsdell, L.A.8
Kishino, T.9
Wagstaff, J.10
-
36
-
-
84925227935
-
Towards a therapy for Angelman syndrome by targeting a long non-coding RNA
-
Meng L, Ward AJ, Chun S, Bennett CF, Beaudet AL, Rigo F. 2014. Towards a therapy for Angelman syndrome by targeting a long non-coding RNA. Nature 19:409–412.
-
(2014)
Nature
, vol.19
, pp. 409-412
-
-
Meng, L.1
Ward, A.J.2
Chun, S.3
Bennett, C.F.4
Beaudet, A.L.5
Rigo, F.6
-
37
-
-
0033005827
-
Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: Clinical manifestations and genetic counselling
-
Moncla A, Malzac P, Livet MO, Voelckel MA, Mancini J, Delaroziere JC, Philip N, Mattei JF. 1999. Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: Clinical manifestations and genetic counselling. J Med Genet 36:554–560.
-
(1999)
J Med Genet
, vol.36
, pp. 554-560
-
-
Moncla, A.1
Malzac, P.2
Livet, M.O.3
Voelckel, M.A.4
Mancini, J.5
Delaroziere, J.C.6
Philip, N.7
Mattei, J.F.8
-
38
-
-
0015609961
-
The “happy puppet” syndrome: two new cases and a review of five previous cases
-
Moore JR, Jeavons PM. 1973. The “happy puppet” syndrome: two new cases and a review of five previous cases. Neuropadiatrie 4:172–179.
-
(1973)
Neuropadiatrie
, vol.4
, pp. 172-179
-
-
Moore, J.R.1
Jeavons, P.M.2
-
39
-
-
33748627456
-
Prevalence of Angelman syndrome and Prader–Willi syndrome in Estonian children: Sister syndromes not equally represented
-
Õiglane-Shlik E, Talvik T, Žordania R, Poder H, Kahre T, Raukas E, Ilus T, Tasa G, Bartsch O Väisänen M. 2006. Prevalence of Angelman syndrome and Prader–Willi syndrome in Estonian children: Sister syndromes not equally represented. Am J Med Genet A 140:1936–1943.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 1936-1943
-
-
Õiglane-Shlik, E.1
Talvik, T.2
Žordania, R.3
Poder, H.4
Kahre, T.5
Raukas, E.6
Ilus, T.7
Tasa, G.8
Bartsch, O.9
Väisänen, M.10
-
40
-
-
77955297555
-
Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid
-
Peters SU, Bird LM, Kimonis V, Glaze DG, Shinawi LM, Bichell TJ, Barbieri-Welge R, Nespeca M, Anselm I, Waisbren S. 2010. Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid. Am J Med Genet A 152:1994–2001.
-
(2010)
Am J Med Genet A
, vol.152
, pp. 1994-2001
-
-
Peters, S.U.1
Bird, L.M.2
Kimonis, V.3
Glaze, D.G.4
Shinawi, L.M.5
Bichell, T.J.6
Barbieri-Welge, R.7
Nespeca, M.8
Anselm, I.9
Waisbren, S.10
-
41
-
-
0029648026
-
Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: estimated prevalence rate in a Danish county
-
Petersen MB, Brøndum-Nielsen K, Hansen LK, Wulff K. 1995. Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: estimated prevalence rate in a Danish county. Am J Med Genet 60:261–262.
-
(1995)
Am J Med Genet
, vol.60
, pp. 261-262
-
-
Petersen, M.B.1
Brøndum-Nielsen, K.2
Hansen, L.K.3
Wulff, K.4
-
42
-
-
84882781833
-
R-loop formation at Snord116 mediates topotecan inhibition of Ube3a-antisense and allele-specific chromatin decondensation
-
Powell WT, Coulson RL, Gonzales ML, Crary FK, Wong SS, Adams S, Ach RA, Tsang P, Yamada NA, Yasui DH, Chedin F, LaSalle JM. 2013. R-loop formation at Snord116 mediates topotecan inhibition of Ube3a-antisense and allele-specific chromatin decondensation. Proc Natl Acad Sci U S A 110:13938–13943.
-
(2013)
Proc Natl Acad Sci U S A
, vol.110
, pp. 13938-13943
-
-
Powell, W.T.1
Coulson, R.L.2
Gonzales, M.L.3
Crary, F.K.4
Wong, S.S.5
Adams, S.6
Ach, R.A.7
Tsang, P.8
Yamada, N.A.9
Yasui, D.H.10
Chedin, F.11
LaSalle, J.M.12
-
43
-
-
0024533842
-
The 'happy puppet' syndrome of Angelman: Review of the clinical features
-
Robb SA, Pohl KR, Baraitser M, Wilson J, Brett EM. 1989. The 'happy puppet' syndrome of Angelman: Review of the clinical features. Arch Dis Child 64:83–86.
-
(1989)
Arch Dis Child
, vol.64
, pp. 83-86
-
-
Robb, S.A.1
Pohl, K.R.2
Baraitser, M.3
Wilson, J.4
Brett, E.M.5
-
44
-
-
0028064274
-
Molecular and clinical study of 61 Angelman syndrome patients
-
Saitoh S, Harada N, Jinno Y, Hashimoto K, Imaizumi K, Kuroki Y, Fukushima Y, Sugimoto T, Renedo M, Wagstaff J. 1994. Molecular and clinical study of 61 Angelman syndrome patients. Am J Med Genet 52:158–163.
-
(1994)
Am J Med Genet
, vol.52
, pp. 158-163
-
-
Saitoh, S.1
Harada, N.2
Jinno, Y.3
Hashimoto, K.4
Imaizumi, K.5
Kuroki, Y.6
Fukushima, Y.7
Sugimoto, T.8
Renedo, M.9
Wagstaff, J.10
-
46
-
-
19144363371
-
Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion
-
Smith A, Wiles C, Haan E, McGill J, Wallace G, Dixon J, Selby R, Colley A, Marks R, Trent RJ. 1996. Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion. J Med Genet 33:107–112.
-
(1996)
J Med Genet
, vol.33
, pp. 107-112
-
-
Smith, A.1
Wiles, C.2
Haan, E.3
McGill, J.4
Wallace, G.5
Dixon, J.6
Selby, R.7
Colley, A.8
Marks, R.9
Trent, R.J.10
-
47
-
-
78650675939
-
Angelman syndrome: Mutations influence features in early childhood
-
Tan W, Bacino CA, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Gentile JK, Glaze DG. 2011. Angelman syndrome: Mutations influence features in early childhood. Am J Med Genet a 155:81–90.
-
(2011)
Am J Med Genet a
, vol.155
, pp. 81-90
-
-
Tan, W.1
Bacino, C.A.2
Skinner, S.A.3
Anselm, I.4
Barbieri-Welge, R.5
Bauer-Carlin, A.6
Beaudet, A.L.7
Bichell, T.J.8
Gentile, J.K.9
Glaze, D.G.10
-
48
-
-
70350359069
-
Epilepsy in Angelman syndrome: A questionnaire-based assessment of the natural history and current treatment options
-
Thibert RL, Conant KD, Braun EK, Bruno P, Said RR, Nespeca MP, Thiele EA. 2009. Epilepsy in Angelman syndrome: A questionnaire-based assessment of the natural history and current treatment options. Epilepsia 50:2369–2376.
-
(2009)
Epilepsia
, vol.50
, pp. 2369-2376
-
-
Thibert, R.L.1
Conant, K.D.2
Braun, E.K.3
Bruno, P.4
Said, R.R.5
Nespeca, M.P.6
Thiele, E.A.7
-
49
-
-
84875153628
-
Neurologic manifestations of Angelman syndrome
-
Thibert RL, Larson AM, Hsieh DT, Raby AR, Thiele EA. 2013. Neurologic manifestations of Angelman syndrome. Pediatr Neurol 48:271–279.
-
(2013)
Pediatr Neurol
, vol.48
, pp. 271-279
-
-
Thibert, R.L.1
Larson, A.M.2
Hsieh, D.T.3
Raby, A.R.4
Thiele, E.A.5
-
50
-
-
33644606524
-
A long-term population-based clinical and morbidity profile of Angelman syndrome in Western Australia: 1953–2003
-
Thomson A, Glasson E, Bittles A. 2006. A long-term population-based clinical and morbidity profile of Angelman syndrome in Western Australia: 1953–2003. Disabil Rehabil 28:299–305.
-
(2006)
Disabil Rehabil
, vol.28
, pp. 299-305
-
-
Thomson, A.1
Glasson, E.2
Bittles, A.3
-
51
-
-
30344466930
-
Epilepsy in patients with Angelman syndrome caused by deletion of the chromosome 15q11-13
-
Valente KD, Koiffmann CP, Fridman C, Varella M, Kok F, Andrade JQ, Grossmann RM, Marques-Dias MJ. 2006. Epilepsy in patients with Angelman syndrome caused by deletion of the chromosome 15q11-13. Arch Neurol 63:122–128.
-
(2006)
Arch Neurol
, vol.63
, pp. 122-128
-
-
Valente, K.D.1
Koiffmann, C.P.2
Fridman, C.3
Varella, M.4
Kok, F.5
Andrade, J.Q.6
Grossmann, R.M.7
Marques-Dias, M.J.8
-
52
-
-
84990238209
-
-
[accessed August 2015
-
Weeber E. 2012. Minocycline in the Angelman Syndrome. URL: https://clinicaltrials.gov/ct2/show/NCT01531582 [accessed August 2015]
-
(2012)
-
-
Weeber, E.1
-
53
-
-
84990236459
-
-
[accessed August 2015
-
Tan W. 2011. A trial of levodopa in Angelman Syndrome. URL: https://clinicaltrials.gov/ct2/show/NCT01281475 [accessed August 2015]
-
(2011)
-
-
Tan, W.1
-
54
-
-
0025322541
-
Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex
-
Wilkie AO, Zeitlin HC, Lindenbaum RH, Buckle VJ, Fischel-Ghodsian N, Chui DH, Gardner-Medwin D, MacGillivray MH, Weatherall DJ, Higgs DR. 1990. Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex. Am J Hum Genet 46:1127–1140.
-
(1990)
Am J Hum Genet
, vol.46
, pp. 1127-1140
-
-
Wilkie, A.O.1
Zeitlin, H.C.2
Lindenbaum, R.H.3
Buckle, V.J.4
Fischel-Ghodsian, N.5
Chui, D.H.6
Gardner-Medwin, D.7
MacGillivray, M.H.8
Weatherall, D.J.9
Higgs, D.R.10
-
55
-
-
0028969404
-
Angelman syndrome: Consensus for diagnostic criteria
-
Williams CA. 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
-
56
-
-
33644865491
-
Angelman syndrome 2005: Updated consensus for diagnostic criteria
-
Williams CA, Beaudet AL, Clayton-Smith J, Knoll JH, Kyllerman M, Laan LA, Magenis RE, Moncla A, Schinzel AA, Summers JA. 2006. Angelman syndrome 2005: Updated consensus for diagnostic criteria. Am J Med Genet a 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
Knoll, J.H.4
Kyllerman, M.5
Laan, L.A.6
Magenis, R.E.7
Moncla, A.8
Schinzel, A.A.9
Summers, J.A.10
-
57
-
-
0035371487
-
Angelman syndrome: Mimicking conditions and phenotypes
-
Williams CA, Lossie A, Driscoll D. 2001. Angelman syndrome: Mimicking conditions and phenotypes. Am J Med Genet 101:59–64.
-
(2001)
Am J Med Genet
, vol.101
, pp. 59-64
-
-
Williams, C.A.1
Lossie, A.2
Driscoll, D.3
-
59
-
-
42249095466
-
Long-standing fever and Angelman syndrome: Report of two cases
-
Yiş U, Giray Ö, Kurul SH, Bora E, Ulgenalp A, Erçal D, Dirik E. 2008. Long-standing fever and Angelman syndrome: Report of two cases. J Paediatr Child Health 44:308–310.
-
(2008)
J Paediatr Child Health
, vol.44
, pp. 308-310
-
-
Yiş, U.1
Giray, Ö.2
Kurul, S.H.3
Bora, E.4
Ulgenalp, A.5
Erçal, D.6
Dirik, E.7
-
60
-
-
0026651961
-
Angelman syndrome: Clinical profile
-
Zori RT, Hendrickson J, Woolven S, Whidden EM, Gray B, Williams CA. 1992. Angelman syndrome: Clinical profile. J Child Neurol 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
|