-
1
-
-
33644861103
-
Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13
-
Dennis NR, Veltman MW, Thompson R, et al. Clinical findings in 33 subjects with large supernumerary marker(15) chromosomes and 3 subjects with triplication of 15q11-q13. Am J Med Genet A 2006; 140: 434-441.
-
(2006)
Am J Med Genet A
, vol.140
, pp. 434-441
-
-
Dennis, N.R.1
Veltman, M.W.2
Thompson, R.3
-
2
-
-
79952575575
-
Epilepsy and the new cytogenetics
-
Mulley JC, Mefford HC,. Epilepsy and the new cytogenetics. Epilepsia 2011; 52: 423-432.
-
(2011)
Epilepsia
, vol.52
, pp. 423-432
-
-
Mulley, J.C.1
Mefford, H.C.2
-
3
-
-
77951206469
-
The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13
-
Hogart A, Wu D, LaSalle J, et al. The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13. Neurobiol Dis 2010; 38: 181-191.
-
(2010)
Neurobiol Dis
, vol.38
, pp. 181-191
-
-
Hogart, A.1
Wu, D.2
Lasalle, J.3
-
4
-
-
0242607218
-
Molecular and fluorescence in situ hybridization characterization of the breakpoints in 46 large supernumerary marker 15 chromosomes reveals an unexpected level of complexity
-
Roberts SE, Maggouta F, Thomas NS, et al. Molecular and fluorescence in situ hybridization characterization of the breakpoints in 46 large supernumerary marker 15 chromosomes reveals an unexpected level of complexity. Am J Hum Genet 2003; 73: 1061-1072.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 1061-1072
-
-
Roberts, S.E.1
Maggouta, F.2
Thomas, N.S.3
-
5
-
-
18344413881
-
Autism and maternally derived aberrations of chromosome 15q
-
Schroer RJ, Phelan MC, Michaelis RC, et al. Autism and maternally derived aberrations of chromosome 15q. Am J Med Genet 1998; 76: 327-336.
-
(1998)
Am J Med Genet
, vol.76
, pp. 327-336
-
-
Schroer, R.J.1
Phelan, M.C.2
Michaelis, R.C.3
-
6
-
-
0034794710
-
Rearrangements of chromosome 15 in epilepsy
-
Torrisi L, Sangiorgi E, Russo L,. Rearrangements of chromosome 15 in epilepsy. Am J Med Genet 2001; 106: 125-128.
-
(2001)
Am J Med Genet
, vol.106
, pp. 125-128
-
-
Torrisi, L.1
Sangiorgi, E.2
Russo, L.3
-
7
-
-
62149112931
-
Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted by copy number
-
Hogart A, Leung KN, Wang NJ, et al. Chromosome 15q11-13 duplication syndrome brain reveals epigenetic alterations in gene expression not predicted by copy number. J Med Genet 2009; 46: 86-93.
-
(2009)
J Med Genet
, vol.46
, pp. 86-93
-
-
Hogart, A.1
Leung, K.N.2
Wang, N.J.3
-
8
-
-
77956115327
-
Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literature
-
Kleefstra T, de Leeuw N, Wolf R, et al. Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literature. Am J Med Genet A 2010; 152A: 2221-2229.
-
(2010)
Am J Med Genet A
, vol.152 A
, pp. 2221-2229
-
-
Kleefstra, T.1
De Leeuw, N.2
Wolf, R.3
-
9
-
-
77649083119
-
The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc
-
Greer PL, Hanayama R, Bloodgood BL, et al. The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc. Cell 2010; 140: 704-716.
-
(2010)
Cell
, vol.140
, pp. 704-716
-
-
Greer, P.L.1
Hanayama, R.2
Bloodgood, B.L.3
-
10
-
-
16944364326
-
Autism or atypical autism in maternally but not paternally derived proximal 15q duplication
-
Cook EH Jr, Lindgren V, Leventhal BL, et al. Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. Am J Hum Genet 1997; 60: 928-934.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 928-934
-
-
Cook, Jr.E.H.1
Lindgren, V.2
Leventhal, B.L.3
-
11
-
-
3543038182
-
Supernumerary tricentric derivative chromosome 15 in two boys with intractable epilepsy: Another mechanism for partial hexasomy
-
Mann SM, Wang NJ, Liu DH, et al. Supernumerary tricentric derivative chromosome 15 in two boys with intractable epilepsy: another mechanism for partial hexasomy. Hum Genet 2004; 115: 104-111.
-
(2004)
Hum Genet
, vol.115
, pp. 104-111
-
-
Mann, S.M.1
Wang, N.J.2
Liu, D.H.3
-
12
-
-
33749007122
-
Epigenetics of autism spectrum disorders
-
Spec No 2
-
Schanen NC,. Epigenetics of autism spectrum disorders. Hum Mol Genet 2006; 15 Spec No 2: R138-R150.
-
(2006)
Hum Mol Genet
, vol.15
-
-
Schanen, N.C.1
-
13
-
-
84882269902
-
The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature
-
Urraca N, Cleary J, Brewer V, et al. The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature. Autism Res 2013; 6: 268-279.
-
(2013)
Autism Res
, vol.6
, pp. 268-279
-
-
Urraca, N.1
Cleary, J.2
Brewer, V.3
-
15
-
-
34247170891
-
A receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders
-
A receptor genes are normally biallelically expressed in brain yet are subject to epigenetic dysregulation in autism-spectrum disorders. Hum Mol Genet 2007; 16: 691-703.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 691-703
-
-
Hogart, A.1
Nagarajan, R.P.2
Patzel, K.A.3
-
16
-
-
14044252235
-
Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3
-
Samaco RC, Hogart A, LaSalle JM,. Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3. Hum Mol Genet 2005; 14: 483-492.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 483-492
-
-
Samaco, R.C.1
Hogart, A.2
Lasalle, J.M.3
-
17
-
-
84860597923
-
Increased copy number for methylated maternal 15q duplications leads to changes in gene and protein expression in human cortical samples
-
Scoles HA, Urraca N, Chadwick SW, et al. Increased copy number for methylated maternal 15q duplications leads to changes in gene and protein expression in human cortical samples. Mol Autism 2011; 2: 19.
-
(2011)
Mol Autism
, vol.2
, pp. 19
-
-
Scoles, H.A.1
Urraca, N.2
Chadwick, S.W.3
-
18
-
-
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, 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: 8505-8514.
-
(1998)
J Neurosci
, vol.18
, pp. 8505-8514
-
-
Delorey, T.M.1
Handforth, A.2
Anagnostaras, S.G.3
-
19
-
-
38049013294
-
Gabrb3 gene deficient mice exhibit impaired social and exploratory behaviors, deficits in non-selective attention and hypoplasia of cerebellar vermal lobules: A potential model of autism spectrum disorder
-
DeLorey TM, Sahbaie P, Hashemi E, et al. Gabrb3 gene deficient mice exhibit impaired social and exploratory behaviors, deficits in non-selective attention and hypoplasia of cerebellar vermal lobules: a potential model of autism spectrum disorder. Behav Brain Res 2008; 187: 207-220.
-
(2008)
Behav Brain Res
, vol.187
, pp. 207-220
-
-
Delorey, T.M.1
Sahbaie, P.2
Hashemi, E.3
-
20
-
-
0031981973
-
The mechanisms involved in formation of deletions and duplications of 15q11-13
-
Robinson WP, Dutly F, Nicholls RD, et al. The mechanisms involved in formation of deletions and duplications of 15q11-13. J Med Genet 1998; 35: 130-136.
-
(1998)
J Med Genet
, vol.35
, pp. 130-136
-
-
Robinson, W.P.1
Dutly, F.2
Nicholls, R.D.3
-
21
-
-
0031881661
-
A clinical, cytogenetic and molecular study of ten probands with supernumerary inv dup (15) marker chromosomes
-
Webb T, Hardy CA, King M, et al. A clinical, cytogenetic and molecular study of ten probands with supernumerary inv dup (15) marker chromosomes. Clin Genet 1998; 53: 34-43.
-
(1998)
Clin Genet
, vol.53
, pp. 34-43
-
-
Webb, T.1
Hardy, C.A.2
King, M.3
-
22
-
-
0036711714
-
Mild generalized epilepsy and developmental disorder associated with large inv dup(15)
-
Chifari R, Guerrini R, Pierluigi M, et al. Mild generalized epilepsy and developmental disorder associated with large inv dup(15). Epilepsia 2002; 43: 1096-2100.
-
(2002)
Epilepsia
, vol.43
, pp. 1096-2100
-
-
Chifari, R.1
Guerrini, R.2
Pierluigi, M.3
-
23
-
-
33644891868
-
Inv dup (15): Is the electroclinical phenotype helpful for this challenging clinical diagnosis?
-
Valente KD, Freitas A, Fridman C, et al. Inv dup (15): is the electroclinical phenotype helpful for this challenging clinical diagnosis? Clin Neurophysiol 2006; 117: 803-809.
-
(2006)
Clin Neurophysiol
, vol.117
, pp. 803-809
-
-
Valente, K.D.1
Freitas, A.2
Fridman, C.3
-
24
-
-
37649022627
-
Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genes
-
Yasui DH, Peddada S, Bieda MC, et al. Integrated epigenomic analyses of neuronal MeCP2 reveal a role for long-range interaction with active genes. Proc Natl Acad Sci U S A 2007; 104: 19416-19421.
-
(2007)
Proc Natl Acad Sci U S A
, vol.104
, pp. 19416-19421
-
-
Yasui, D.H.1
Peddada, S.2
Bieda, M.C.3
-
25
-
-
17744380972
-
MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression
-
Makedonski K, Abuhatzira L, Kaufman Y, et al. MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression. Hum Mol Genet 2005; 14: 1049-1058.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 1049-1058
-
-
Makedonski, K.1
Abuhatzira, L.2
Kaufman, Y.3
-
26
-
-
70350359069
-
Epilepsy in Angelman syndrome: A questionnaire-based assessment of the natural history and current treatment options
-
Thibert RL, Conant KD, Braun EK, et al. Epilepsy in Angelman syndrome: a questionnaire-based assessment of the natural history and current treatment options. Epilepsia 2009; 50: 2369-2376.
-
(2009)
Epilepsia
, vol.50
, pp. 2369-2376
-
-
Thibert, R.L.1
Conant, K.D.2
Braun, E.K.3
-
27
-
-
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
-
28
-
-
0034163070
-
Symptomatic generalized epilepsy associated with an inverted duplication of chromosome 15
-
Takeda Y, Baba A, Nakamura F, et al. Symptomatic generalized epilepsy associated with an inverted duplication of chromosome 15. Seizure 2000; 9: 145-150.
-
(2000)
Seizure
, vol.9
, pp. 145-150
-
-
Takeda, Y.1
Baba, A.2
Nakamura, F.3
-
29
-
-
0030902026
-
The inv dup(15) syndrome: A clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy
-
Battaglia A, Gurrieri F, Bertini E, et al. The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy. Neurology 1997; 48: 1081-1086.
-
(1997)
Neurology
, vol.48
, pp. 1081-1086
-
-
Battaglia, A.1
Gurrieri, F.2
Bertini, E.3
-
31
-
-
0034124534
-
The syndrome of inv dup (15): Clinical, electroencephalographic, and imaging findings
-
Buoni S, Sorrentino L, Farnetani MA, et al. The syndrome of inv dup (15): clinical, electroencephalographic, and imaging findings. J Child Neurol 2000; 15: 380-385.
-
(2000)
J Child Neurol
, vol.15
, pp. 380-385
-
-
Buoni, S.1
Sorrentino, L.2
Farnetani, M.A.3
-
33
-
-
80955146569
-
Copy number variants and infantile spasms: Evidence for abnormalities in ventral forebrain development and pathways of synaptic function
-
Paciorkowski AR, Thio LL, Rosenfeld JA, et al. Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function. Eur J Hum Genet 2011; 19: 1238-1245.
-
(2011)
Eur J Hum Genet
, vol.19
, pp. 1238-1245
-
-
Paciorkowski, A.R.1
Thio, L.L.2
Rosenfeld, J.A.3
-
34
-
-
0035829969
-
The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders
-
Bolton PF, Dennis NR, Browne CE, et al. The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders. Am J Med Genet 2001; 105: 675-685.
-
(2001)
Am J Med Genet
, vol.105
, pp. 675-685
-
-
Bolton, P.F.1
Dennis, N.R.2
Browne, C.E.3
-
35
-
-
0031444629
-
Inherited interstitial duplications of proximal 15q: Genotype-phenotype correlations
-
Browne CE, Dennis NR, Maher E, et al. Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations. Am J Hum Genet 1997; 61: 1342-1352.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 1342-1352
-
-
Browne, C.E.1
Dennis, N.R.2
Maher, E.3
-
36
-
-
42749093185
-
The Early Childhood Epilepsy Severity Scale (E-Chess)
-
Humphrey A, Ploubidis GB, Yates JRW, et al. The Early Childhood Epilepsy Severity Scale (E-Chess). Epilepsy Res 2008; 79: 139-145.
-
(2008)
Epilepsy Res
, vol.79
, pp. 139-145
-
-
Humphrey, A.1
Ploubidis, G.B.2
Yates, J.R.W.3
-
37
-
-
77956232137
-
Autism and epilepsy: Historical perspective
-
Tuchman R, Cuccaro M, Alessandri M,. Autism and epilepsy: historical perspective. Brain Dev 2010; 32: 709-718.
-
(2010)
Brain Dev
, vol.32
, pp. 709-718
-
-
Tuchman, R.1
Cuccaro, M.2
Alessandri, M.3
-
38
-
-
77954529084
-
The natural history of epilepsy in tuberous sclerosis complex
-
Chu-Shore CJ, Major P, Camposano S, et al. The natural history of epilepsy in tuberous sclerosis complex. Epilepsia 2010; 51: 1236-1241.
-
(2010)
Epilepsia
, vol.51
, pp. 1236-1241
-
-
Chu-Shore, C.J.1
Major, P.2
Camposano, S.3
-
39
-
-
84860225460
-
Differences between the pattern of developmental abnormalities in autism associated with duplications 15q11.2-q13 and idiopathic autism
-
Wegiel J, Schanen NC, Cook EH, et al. Differences between the pattern of developmental abnormalities in autism associated with duplications 15q11.2-q13 and idiopathic autism. J Neuropathol Exp Neurol 2012; 71: 382-397.
-
(2012)
J Neuropathol Exp Neurol
, vol.71
, pp. 382-397
-
-
Wegiel, J.1
Schanen, N.C.2
Cook, E.H.3
-
40
-
-
0035160282
-
Effectiveness of first antiepileptic drug
-
Kwan P, Brodie M,. Effectiveness of first antiepileptic drug. Epilepsia 2001; 42: 1255-1260.
-
(2001)
Epilepsia
, vol.42
, pp. 1255-1260
-
-
Kwan, P.1
Brodie, M.2
|