-
1
-
-
84995191751
-
Puppet children. A report of three cases
-
Angelman H. "Puppet" children. A report of three cases. Dev Med Child Neurol 1965; 7: 681-8.
-
(1965)
Dev Med Child Neurol
, vol.7
, pp. 681-688
-
-
Angelman, H.1
-
3
-
-
0031046903
-
Angelman syndrome assessed by neurological and molecular cytogenetic and molecular investigation
-
Hou JW, Wang PJ, Wang TR. Angelman syndrome assessed by neurological and molecular cytogenetic and molecular investigation. Pediatr Neurol 1997; 16: 17-22
-
(1997)
Pediatr Neurol
, vol.16
, pp. 17-22
-
-
Hou, J.W.1
Wang, P.J.2
Wang, T.R.3
-
4
-
-
0031034989
-
Elevated plasma gamma-aminobutyric acid (GABA) levels in individuals with either Prader-Willi syndrome or Angelman syndrome
-
Ebert MH, Schmidt DE, Thompson T, Butler MG. Elevated plasma gamma-aminobutyric acid (GABA) levels in individuals with either Prader-Willi syndrome or Angelman syndrome. J Neuropsychiatry Clin Neurosci 1997; 9: 75-80.
-
(1997)
J Neuropsychiatry Clin Neurosci
, vol.9
, pp. 75-80
-
-
Ebert, M.H.1
Schmidt, D.E.2
Thompson, T.3
Butler, M.G.4
-
5
-
-
0032987223
-
Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients
-
Moncla A, Malzac P, Voelckel MA, Auquier P, Girardot L, Mattei MG, et al. Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients. Eur J Hum Genet 1999; 7: 131-9.
-
(1999)
Eur J Hum Genet
, vol.7
, pp. 131-139
-
-
Moncla, A.1
Malzac, P.2
Voelckel, M.A.3
Auquier, P.4
Girardot, L.5
Mattei, M.G.6
-
6
-
-
0032531430
-
Mice lacking the beta3 subunit of the GABAA receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome
-
DeLorey TM, Handforth A, Anagnostaras SG, Homanics GE, Minassian BA, Asatourian A, et al. Mice lacking the beta3 subunit of the GABAA receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome. J Neurosci 1998; 18: 8505-14.
-
(1998)
J Neurosci
, vol.18
, pp. 8505-8514
-
-
DeLorey, T.M.1
Handforth, A.2
Anagnostaras, S.G.3
Homanics, G.E.4
Minassian, B.A.5
Asatourian, A.6
-
7
-
-
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, Drexler B, Siegwart R, Crestani F, et al. General anesthetic actions in vivo strongly attenuated by a point mutation in the GABA (A) receptor beta3 subunit. FASEB J 2003; 17: 250-2.
-
(2003)
FASEB J
, vol.17
, pp. 250-252
-
-
Jurd, R.1
Arras, M.2
Lambert, S.3
Drexler, B.4
Siegwart, R.5
Crestani, F.6
-
8
-
-
12644290240
-
Mice devoid of gamma-aminobutyrate type A receptor beta3 subunit have epilepsy, cleft palate, and hypersensitive behavior
-
Homanics GE, DeLorey TM, Firestone LL, Quinlan JJ, Handforth A, Harrison NL, et al. Mice devoid of gamma-aminobutyrate type A receptor beta3 subunit have epilepsy, cleft palate, and hypersensitive behavior. Proc Natl Acad Sci U S A 1997; 94: 4143-8.
-
(1997)
Proc Natl Acad Sci U S A
, vol.94
, pp. 4143-4148
-
-
Homanics, G.E.1
DeLorey, T.M.2
Firestone, L.L.3
Quinlan, J.J.4
Handforth, A.5
Harrison, N.L.6
-
9
-
-
0035817099
-
Effects of volatile and intravenous anesthetics on the uptake of GABA, glutamate and dopamine by their transporters heterologously expressed in COS cells and in rat brain synaptosomes
-
Sugimura M, Kitayama S, Morita K, Irifune M, Takarada T, Kawahara M, et al. Effects of volatile and intravenous anesthetics on the uptake of GABA, glutamate and dopamine by their transporters heterologously expressed in COS cells and in rat brain synaptosomes. Toxicol Lett 2001; 123: 69-76.
-
(2001)
Toxicol Lett
, vol.123
, pp. 69-76
-
-
Sugimura, M.1
Kitayama, S.2
Morita, K.3
Irifune, M.4
Takarada, T.5
Kawahara, M.6
-
10
-
-
0034844048
-
Dose-dependent enhancement of in vivo GABA (A)-benzodiazepine receptor binding by isoflurane
-
Gyulai FE, Mintun MA, Firestone LL. Dose-dependent enhancement of in vivo GABA (A)-benzodiazepine receptor binding by isoflurane. Anesthesiology 2001; 95: 585-93.
-
(2001)
Anesthesiology
, vol.95
, pp. 585-593
-
-
Gyulai, F.E.1
Mintun, M.A.2
Firestone, L.L.3
-
11
-
-
1642355968
-
Angelman syndrome as a rare anaesthetic problem
-
Bujok G, Knapik P. Angelman syndrome as a rare anaesthetic problem. Paediatr Anaesth 2004; 14: 281-3.
-
(2004)
Paediatr Anaesth
, vol.14
, pp. 281-283
-
-
Bujok, G.1
Knapik, P.2
-
12
-
-
0029973401
-
Unilateral cleft lip in a boy with Angelman syndrome
-
Rösby O, Strömme P, Sandsmark M, Ramstad K, Ormerod E, Birger van der Hagen C, et al. Unilateral cleft lip in a boy with Angelman syndrome. J Craniofac Genet Dev Biol 1996; 16: 122-5.
-
(1996)
J Craniofac Genet Dev Biol
, vol.16
, pp. 122-125
-
-
Rösby, O.1
Strömme, P.2
Sandsmark, M.3
Ramstad, K.4
Ormerod, E.5
Birger van der Hagen, C.6
-
13
-
-
33644865491
-
Angelman syndrome 2005: Updated consensus for diagnostic criteria
-
Williams CA, Beaudet AL, Clayton-Smith J, Knoll JH, Kyllerman M, Laan LA, et al. Angelman syndrome 2005: updated consensus for diagnostic criteria. Am J Med Genet A 2006; 140: 413-8.
-
(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
-
14
-
-
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: 866-8.
-
(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
|