-
4
-
-
1642355968
-
Angelman syndrome as a rare anaesthetic problem [3]
-
DOI 10.1046/j.1460-9592.2003.01188.x
-
Bujok G, Knapik P. Angelman syndrome as a rare anaesthetic problem. Paediatric Anaesthesia 2004; 14: 281-283 (Pubitemid 38373070)
-
(2004)
Paediatric Anaesthesia
, vol.14
, Issue.3
, pp. 281-283
-
-
Bujok, G.1
Knapik, P.2
-
5
-
-
0037328861
-
Angelman syndrome: A review of the clinical and genetic aspects
-
Clayton-Smith J, Laan L. Angelman syndrome: a review of the clinical and genetic aspects. Journal of Medical Genetics 2003; 40: 87-95. (Pubitemid 36232812)
-
(2003)
Journal of Medical Genetics
, vol.40
, Issue.2
, pp. 87-95
-
-
Clayton-Smith, J.1
Laan, L.2
-
7
-
-
0024494063
-
The association of Angelman's syndrome with deletions within 15p11-13
-
Pembrey M, Fennell SJ, van den Berghe J, et al. The association of Angelman's syndrome with deletions within 15q11-13. Journal of Medical Genetics 1989; 26: 73-77 (Pubitemid 19047354)
-
(1989)
Journal of Medical Genetics
, vol.26
, Issue.2
, pp. 73-77
-
-
Pembrey, M.1
Fennell, S.J.2
Van Den Berghe, J.3
Fitchett, M.4
Summers, D.5
Butler, L.6
Clarke, C.7
Griffiths, M.8
Thompson, E.9
Super, M.10
Baraitser, M.11
-
8
-
-
0031012849
-
UBE3A/E6-AP mutations cause Angelman syndrome
-
DOI 10.1038/ng0197-70
-
Kishino T, Lalande M, Wagstaff J. UBE3A/E6-AP mutations cause Angelman syndrome. Nature Genetics 1997; 15: 70-73 (Pubitemid 27014952)
-
(1997)
Nature Genetics
, vol.15
, Issue.1
, pp. 70-73
-
-
Kishino, T.1
Lalande, M.2
Wagstaff, J.3
-
9
-
-
0033358742
-
Genetics of Angelman syndrome
-
Jiang Y, Lev-Lehman E, Bressler J, Tsai TF, Beaudet AL. Genetics of Angelman syndrome. American Journal of Human Genetics 1999; 65: 1-6.
-
(1999)
American Journal of Human Genetics
, vol.65
, pp. 1-6
-
-
Jiang, Y.1
Lev-Lehman, E.2
Bressler, J.3
Tsai, T.F.4
Beaudet, A.L.5
-
10
-
-
0842303313
-
Back to the future with ubiquitin
-
Pickart CM. Back to the future with ubiquitin. Cell 2004; 116: 181-190
-
(2004)
Cell
, vol.116
, pp. 181-190
-
-
Pickart, C.M.1
-
13
-
-
51349099016
-
Comments on a case report of Angelman syndrome anaesthesia
-
Errando CL. Comments on a case report of Angelman syndrome anaesthesia. Anaesthesia 2008; 63: 1145-1146
-
(2008)
Anaesthesia
, vol.63
, pp. 1145-1146
-
-
Errando, C.L.1
-
14
-
-
0034080674
-
Angelman syndrome and severe vagal hypertonia. Three pediatric case reports
-
Douchin S, Do-Ngoc D, Rossignol AM, Lucet V, Joannard A, Jouk PS. Angelman syndrome and severe vagal hypertonia. Three pediatric case reports. Archives des Maladies du Coeur et des Vaisseaux 2000; 93: 559-563
-
(2000)
Archives des Maladies du Coeur et des Vaisseaux
, vol.93
, pp. 559-563
-
-
Douchin, S.1
Do-Ngoc, D.2
Rossignol, A.M.3
Lucet, V.4
Joannard, A.5
Jouk, P.S.6
-
15
-
-
31144440906
-
Asystole during outbursts of laughing in a child with Angelman syndrome
-
DOI 10.1007/s00246-005-0985-5
-
Vanagt WY, Pulles-Heintzberger CF, Vernooy K, Cornelussen RN, Delhaas T. Asystole during outbursts of laughing in a child with Angelman syndrome. Pediatric Cardiology 2005; 26: 866-868 (Pubitemid 43130192)
-
(2005)
Pediatric Cardiology
, vol.26
, Issue.6
, pp. 866-868
-
-
Vanagt, W.Y.1
Pulles-Heintzberger, C.F.2
Vernooy, K.3
Cornelussen, R.N.4
Delhaas, T.5
-
17
-
-
10044281472
-
Phenotypic variability in Angelman syndrome: Comparison among different deletion classes and between deletion and UPD subjects
-
DOI 10.1038/sj.ejhg.5201264
-
Varela MC, Kok F, Otto PA, Koiffmann CP. Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects. European Journal of Human Genetics 2004; 12: 987-992 (Pubitemid 39600125)
-
(2004)
European Journal of Human Genetics
, vol.12
, Issue.12
, pp. 987-992
-
-
Varela, M.C.1
Kok, F.2
Otto, P.A.3
Koiffmann, C.P.4
-
18
-
-
0032987223
-
Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients
-
Moncla A, Malzac P, Voelckel MA, et al. Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients. European Journal of Human Genetics 1999; 7: 131-139 (Pubitemid 29150223)
-
(1999)
European Journal of Human Genetics
, vol.7
, Issue.2
, pp. 131-139
-
-
Moncla, A.1
Malzac, P.2
Voelckel, M.-A.3
Auquier, P.4
Girardot, L.5
Mattei, M.-G.6
Philip, N.7
Mattei, J.-F.8
Lalande, M.9
Livet, M.-O.10
-
19
-
-
15144357226
-
Angelman syndrome: Correlations between epilepsy phenotypes and genotypes
-
DOI 10.1002/ana.410430412
-
Berge TMD, Minassian A, Olsen RW, et al. Angelman syndrome: correlations between epilepsy phenotypes and genotypes. Annals of Neurology 1998; 43: 485-493 (Pubitemid 28231724)
-
(1998)
Annals of Neurology
, vol.43
, Issue.4
, pp. 485-493
-
-
Minassian, B.A.1
Delorey, T.M.2
Olsen, R.W.3
Philippart, M.4
Bronstein, Y.5
Zhang, Q.6
Guerrini, R.7
Van Ness, P.8
Livet, M.O.9
Delgado-Escueta, A.V.10
-
20
-
-
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. Journal of Medical Genetics 2001; 38: 834-845 (Pubitemid 34014208)
-
(2001)
Journal of Medical Genetics
, vol.38
, Issue.12
, 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
-
21
-
-
0141514729
-
Angelman syndrome reviewed from a neurophysiological perspective. The UBE3A-GABRB3 hypothesis
-
Dan B, Boyd SG. Angelman syndrome reviewed from a neurophysiological perspective. The UBE3A-GABRB3 hypothesis. Neuropediatrics 2003; 34: 169-176
-
(2003)
Neuropediatrics
, vol.34
, pp. 169-176
-
-
Dan, B.1
Boyd, S.G.2
-
23
-
-
0037315741
-
General anesthetic actions in vivo strongly attenuated by a point mutation in the GABA(A) receptor beta3 subunit
-
Jurd R, Arras M, Lambert S, et al. General anesthetic actions in vivo strongly attenuated by a point mutation in the GABA(A) receptor beta3 subunit. FASEB Journal 2003; 17: 250-252
-
(2003)
FASEB Journal
, vol.17
, pp. 250-252
-
-
Jurd, R.1
Arras, M.2
Lambert, S.3
-
24
-
-
0031936716
-
Anesthesia sensitivity in mice that lack the beta3 subunit of the gamma-aminobutyric acid type a receptor
-
Quinlan JJ, Homanics GE, Firestone LL. Anesthesia sensitivity in mice that lack the beta3 subunit of the gamma-aminobutyric acid type A receptor. Anesthesiology 1998; 88: 775-780
-
(1998)
Anesthesiology
, vol.88
, pp. 775-780
-
-
Quinlan, J.J.1
Homanics, G.E.2
Firestone, L.L.3
-
25
-
-
0032531430
-
a receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome
-
A receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome. Journal of Neuroscience 1998; 18: 8505-8514
-
(1998)
Journal of Neuroscience
, vol.18
, pp. 8505-8514
-
-
DeLorey, T.M.1
Handforth, A.2
Anagnostaras, S.G.3
-
26
-
-
12644290240
-
Mice devoid of gamma-aminobutyrate type a receptor beta3 subunit have epilepsy, cleft palate, and hypersensitive behavior
-
Homanics GE, DeLorey TM, Firestone LL, et al. Mice devoid of gamma-aminobutyrate type A receptor beta3 subunit have epilepsy, cleft palate, and hypersensitive behavior. Proceedings of the National Academy of Sciences of the United States of America 1997; 94: 4143-4148
-
(1997)
Proceedings of the National Academy of Sciences of the United States of America
, vol.94
, pp. 4143-4148
-
-
Homanics, G.E.1
DeLorey, T.M.2
Firestone, L.L.3
-
27
-
-
0034745606
-
Decreased binding of [11C]flumazenil in Angelman syndrome patients with GABA(A) receptor beta3 subunit deletions
-
Holopainen IE, Metsahonkala EL, Kokkonen H, et al. Decreased binding of [11C]flumazenil in Angelman syndrome patients with GABA(A) receptor beta3 subunit deletions. Annals of Neurology 2001; 49: 110-113
-
(2001)
Annals of Neurology
, vol.49
, pp. 110-113
-
-
Holopainen, I.E.1
Metsahonkala, E.L.2
Kokkonen, H.3
-
28
-
-
0029925532
-
Decrease in benzodiazepine receptor binding in a patient with Angelman syndrome detected by iodine-123 iomazenil and single-photon emission tomography
-
Odano I, Anezaki T, Ohkubo M, et al. Decrease in benzodiazepine receptor binding in a patient with Angelman syndrome detected by iodine-123 iomazenil and single-photon emission tomography. European Journal of Nuclear Medicine 1996; 23: 598-604. (Pubitemid 26140594)
-
(1996)
European Journal of Nuclear Medicine
, vol.23
, Issue.5
, pp. 598-604
-
-
Odano, I.1
Anezaki, T.2
Ohkubo, M.3
Yonekura, Y.4
Onishi, Y.5
Inuzuka, T.6
Takahashi, M.7
Tsuji, S.8
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