-
1
-
-
0032790898
-
A common molecular basis for rearrangement disorders on chromosome 22q11
-
Edelmann L., Pandita R.K., Spiteri E., et al. A common molecular basis for rearrangement disorders on chromosome 22q11. Hum Mol Genet 1999, 8(7):1157-1167.
-
(1999)
Hum Mol Genet
, vol.8
, Issue.7
, pp. 1157-1167
-
-
Edelmann, L.1
Pandita, R.K.2
Spiteri, E.3
-
2
-
-
40449090405
-
Microduplication 22q11.2: a benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance? Report of two families
-
Courtens W., Schramme I., Laridon A. Microduplication 22q11.2: a benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance? Report of two families. Am J Med Genet 2008, 146:758-763.
-
(2008)
Am J Med Genet
, vol.146
, pp. 758-763
-
-
Courtens, W.1
Schramme, I.2
Laridon, A.3
-
3
-
-
10744220154
-
Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion
-
Saitta S.C., Harris S.E., Gaeth A.P., et al. Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion. Hum Mol Genet 2004, 13(4):417-428.
-
(2004)
Hum Mol Genet
, vol.13
, Issue.4
, pp. 417-428
-
-
Saitta, S.C.1
Harris, S.E.2
Gaeth, A.P.3
-
4
-
-
67349189512
-
Microduplication 22q11.2: a new chromosomal syndrome
-
Portnoï M.F. Microduplication 22q11.2: a new chromosomal syndrome. Eur J Med Genet 2009, 52:88-93.
-
(2009)
Eur J Med Genet
, vol.52
, pp. 88-93
-
-
Portnoï, M.F.1
-
5
-
-
56649099144
-
Clinical variability of the 22q11.2 duplication syndrome
-
Wentzel C., Fernström M., Ohrner Y., Annerén G., Thuresson A.C. Clinical variability of the 22q11.2 duplication syndrome. Eur J Med Genet 2008, 51:501-510.
-
(2008)
Eur J Med Genet
, vol.51
, pp. 501-510
-
-
Wentzel, C.1
Fernström, M.2
Ohrner, Y.3
Annerén, G.4
Thuresson, A.C.5
-
6
-
-
0242607574
-
Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients
-
Ensenauer R.E., Adeyinka A., Flynn H.C., et al. Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. Am J Hum Genet 2003, 73:1027-1040.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 1027-1040
-
-
Ensenauer, R.E.1
Adeyinka, A.2
Flynn, H.C.3
-
7
-
-
33745597393
-
The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies
-
de La Rochebrochard C., Joly-Hélas G., Goldenberg A., et al. The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies. Am J Med Genet 2006, 140:1608-1613.
-
(2006)
Am J Med Genet
, vol.140
, pp. 1608-1613
-
-
de La Rochebrochard, C.1
Joly-Hélas, G.2
Goldenberg, A.3
-
8
-
-
2442715047
-
A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome
-
Hassed S.J., Hopcus-Niccum D., Zhang L., Li S., Mulvihill J.J. A new genomic duplication syndrome complementary to the velocardiofacial (22q11 deletion) syndrome. Clin Genet 2004, 65:400-404.
-
(2004)
Clin Genet
, vol.65
, pp. 400-404
-
-
Hassed, S.J.1
Hopcus-Niccum, D.2
Zhang, L.3
Li, S.4
Mulvihill, J.J.5
-
10
-
-
20244383760
-
Microduplication and triplication of 22q11.2: a highly variable syndrome
-
Yobb T.M., Somerville M.J., Willatt L., et al. Microduplication and triplication of 22q11.2: a highly variable syndrome. Am J Hum Genet 2005, 76:865-876.
-
(2005)
Am J Hum Genet
, vol.76
, pp. 865-876
-
-
Yobb, T.M.1
Somerville, M.J.2
Willatt, L.3
-
11
-
-
61749093596
-
Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication
-
Mosca A.L., Callier P., Faivre L., et al. Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication. Am J Med Genet 2009, 149A:475-481.
-
(2009)
Am J Med Genet
, vol.149 A
, pp. 475-481
-
-
Mosca, A.L.1
Callier, P.2
Faivre, L.3
-
12
-
-
64549106899
-
Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region
-
Coppinger J., McDonald-McGinn D., Zackai E., et al. Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region. Hum Mol Genet 2009, 18:1377-1383.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 1377-1383
-
-
Coppinger, J.1
McDonald-McGinn, D.2
Zackai, E.3
-
13
-
-
78049269607
-
A de novo 22q11.22q11.23 interchromosomal tandem duplication in a boy with developmental delay, hyperactivity, and epilepsy
-
Shimojima K., Imai K., Yamamoto T. A de novo 22q11.22q11.23 interchromosomal tandem duplication in a boy with developmental delay, hyperactivity, and epilepsy. Am J Med Genet 2010, 152A:2820-2826.
-
(2010)
Am J Med Genet
, vol.152 A
, pp. 2820-2826
-
-
Shimojima, K.1
Imai, K.2
Yamamoto, T.3
-
14
-
-
79959534034
-
Phenotypic variability of distal 22q11.2 copy number abnormalities
-
Tan T.Y., Collins A., James P.A., et al. Phenotypic variability of distal 22q11.2 copy number abnormalities. Am J Med Genet 2011, 155:1623-1633.
-
(2011)
Am J Med Genet
, vol.155
, pp. 1623-1633
-
-
Tan, T.Y.1
Collins, A.2
James, P.A.3
-
15
-
-
81955164789
-
The first case of myoclonic epilepsy in a child with a de novo 22q11.2 microduplication
-
Piccione M., Vecchio D., Cavani S., Malacarne M., Pierluigi M., Corsello G. The first case of myoclonic epilepsy in a child with a de novo 22q11.2 microduplication. Am J Med Genet 2011, 155:3054-3059.
-
(2011)
Am J Med Genet
, vol.155
, pp. 3054-3059
-
-
Piccione, M.1
Vecchio, D.2
Cavani, S.3
Malacarne, M.4
Pierluigi, M.5
Corsello, G.6
-
16
-
-
57149093239
-
Distal 22q11.2 microduplication encompassing the BCR gene
-
Descartes M., Franklin J., Diaz de Stahl T., et al. Distal 22q11.2 microduplication encompassing the BCR gene. Am J Med Genet 2008, 146A:3075-3081.
-
(2008)
Am J Med Genet
, vol.146 A
, pp. 3075-3081
-
-
Descartes, M.1
Franklin, J.2
Diaz de Stahl, T.3
-
17
-
-
0002794596
-
Continuous spikes and waves during slow sleep (CSWS): definition of the syndrome
-
John Libbey, London, A. Beaumanoir, M. Bureau, T. Deonna, L. Mira, C.A. Tassinari (Eds.)
-
Bureau M. Continuous spikes and waves during slow sleep (CSWS): definition of the syndrome. Continuous spikes and waves during slow sleep: electrical status epilepticus during slow sleep 1995, 17-26. John Libbey, London. A. Beaumanoir, M. Bureau, T. Deonna, L. Mira, C.A. Tassinari (Eds.).
-
(1995)
Continuous spikes and waves during slow sleep: electrical status epilepticus during slow sleep
, pp. 17-26
-
-
Bureau, M.1
-
18
-
-
0034861404
-
Epileptic encephalopathy
-
Dulac O. Epileptic encephalopathy. Epilepsia 2001, 42(3):23-26.
-
(2001)
Epilepsia
, vol.42
, Issue.3
, pp. 23-26
-
-
Dulac, O.1
-
19
-
-
0942277244
-
Epileptic encephalopathy of late childhood: Landau-Kleffner syndrome and the syndrome of continuous spikes and waves during slow-wave sleep
-
Smith M.C., Hoeppner T.J. Epileptic encephalopathy of late childhood: Landau-Kleffner syndrome and the syndrome of continuous spikes and waves during slow-wave sleep. J Clin Neurophysiol 2003, 20(6):462-472.
-
(2003)
J Clin Neurophysiol
, vol.20
, Issue.6
, pp. 462-472
-
-
Smith, M.C.1
Hoeppner, T.J.2
-
20
-
-
44849110258
-
Electrical status epilepticus in sleep
-
Nickels K., Wirrel E. Electrical status epilepticus in sleep. Semin Pediatr Neurol 2008, 15(2):50-60.
-
(2008)
Semin Pediatr Neurol
, vol.15
, Issue.2
, pp. 50-60
-
-
Nickels, K.1
Wirrel, E.2
-
21
-
-
0025954534
-
Acquired aphasia, dementia, and behavior disorder with epilepsy and continuous spike and waves during sleep in a child
-
Roulet E., Deonna T., Gaillard F., Peter-Favre C., Despland P.A. Acquired aphasia, dementia, and behavior disorder with epilepsy and continuous spike and waves during sleep in a child. Epilepsia 1991, 32:495-503.
-
(1991)
Epilepsia
, vol.32
, pp. 495-503
-
-
Roulet, E.1
Deonna, T.2
Gaillard, F.3
Peter-Favre, C.4
Despland, P.A.5
-
22
-
-
0030909693
-
Regression in pervasive developmental disorders: seizures and epileptiform electroencephalogram correlates
-
Tuchman R.F., Rapin I. Regression in pervasive developmental disorders: seizures and epileptiform electroencephalogram correlates. Pediatrics 1997, 99(4):560-566.
-
(1997)
Pediatrics
, vol.99
, Issue.4
, pp. 560-566
-
-
Tuchman, R.F.1
Rapin, I.2
-
23
-
-
33750592733
-
Autistic spectrum disorder: evaluating a possible contributing or causal role of epilepsy
-
Deonna T., Roulet E. Autistic spectrum disorder: evaluating a possible contributing or causal role of epilepsy. Epilepsia 2006, 47:79-82.
-
(2006)
Epilepsia
, vol.47
, pp. 79-82
-
-
Deonna, T.1
Roulet, E.2
-
24
-
-
68149148987
-
CSWS-related autistic regression versus autistic regression without CSWS
-
Tuchman R. CSWS-related autistic regression versus autistic regression without CSWS. Epilepsia 2009, 50:18-20.
-
(2009)
Epilepsia
, vol.50
, pp. 18-20
-
-
Tuchman, R.1
-
25
-
-
1542291787
-
Effects of epileptiform EEG discharges on cognitive function: is the concept of "transient cognitive impairment" still valid?
-
Aldenkamp A.P., Arends J. Effects of epileptiform EEG discharges on cognitive function: is the concept of "transient cognitive impairment" still valid?. Epilepsy Behav 2004, 5:25-34.
-
(2004)
Epilepsy Behav
, vol.5
, pp. 25-34
-
-
Aldenkamp, A.P.1
Arends, J.2
-
26
-
-
1642498350
-
Epileptic encephalopathies: a brief overview
-
Nabbout R., Dulac O. Epileptic encephalopathies: a brief overview. J Clin Neurophysiol 2003, 20:393-397.
-
(2003)
J Clin Neurophysiol
, vol.20
, pp. 393-397
-
-
Nabbout, R.1
Dulac, O.2
-
27
-
-
66849132563
-
Clinical spectrum and medical treatment of children with electrical status epilepticus in sleep (ESES)
-
Kramer U., Sagi L., Goldberg-Stern H., Zelnik N., Nissenkorn A., Ben-Zeev B. Clinical spectrum and medical treatment of children with electrical status epilepticus in sleep (ESES). Epilepsia 2009, 50(6):1517-1524.
-
(2009)
Epilepsia
, vol.50
, Issue.6
, pp. 1517-1524
-
-
Kramer, U.1
Sagi, L.2
Goldberg-Stern, H.3
Zelnik, N.4
Nissenkorn, A.5
Ben-Zeev, B.6
-
28
-
-
33846704729
-
1.5Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features
-
Alberti A., Romano C., Falco M., et al. 1.5Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features. Clin Genet 2007, 71:177-182.
-
(2007)
Clin Genet
, vol.71
, pp. 177-182
-
-
Alberti, A.1
Romano, C.2
Falco, M.3
-
29
-
-
4043106221
-
Observation of continuous spike-waves during slow sleep in children with myelomeningocele
-
Battaglia D., Acquafondata C., Lettori D., et al. Observation of continuous spike-waves during slow sleep in children with myelomeningocele. Childs Nerv Syst 2004, 20:462-467.
-
(2004)
Childs Nerv Syst
, vol.20
, pp. 462-467
-
-
Battaglia, D.1
Acquafondata, C.2
Lettori, D.3
-
30
-
-
77954473555
-
Impact of severe epilepsy on development: recovery potential after successful early epilepsy surgery
-
Roulet-Perez E., Davidoff V., Mayor-Dubois C., et al. Impact of severe epilepsy on development: recovery potential after successful early epilepsy surgery. Epilepsia 2010, 51:1266-1276.
-
(2010)
Epilepsia
, vol.51
, pp. 1266-1276
-
-
Roulet-Perez, E.1
Davidoff, V.2
Mayor-Dubois, C.3
-
31
-
-
68149155427
-
From rolandic epilepsy to continuous spike-and-waves during sleep and Landau-Kleffner syndromes: insights into possible genetic factors
-
Rudolf G., Valenti M.P., Hirsch E., Szepetowski P. From rolandic epilepsy to continuous spike-and-waves during sleep and Landau-Kleffner syndromes: insights into possible genetic factors. Epilepsia 2009, 50:25-28.
-
(2009)
Epilepsia
, vol.50
, pp. 25-28
-
-
Rudolf, G.1
Valenti, M.P.2
Hirsch, E.3
Szepetowski, P.4
-
32
-
-
84866123041
-
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism
-
Lesca G., Rudolf G., Labalme A., et al. Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism. Epilepsia 2012, 53(9):1526-1538.
-
(2012)
Epilepsia
, vol.53
, Issue.9
, pp. 1526-1538
-
-
Lesca, G.1
Rudolf, G.2
Labalme, A.3
-
33
-
-
79251548588
-
Characterization of the past and current duplication activities in the human 22q11.2 region
-
Guo X., Freyer L., Morrow B., Zheng D. Characterization of the past and current duplication activities in the human 22q11.2 region. BMC Genomics 2011, 12:71.
-
(2011)
BMC Genomics
, vol.12
, pp. 71
-
-
Guo, X.1
Freyer, L.2
Morrow, B.3
Zheng, D.4
|