-
1
-
-
0031671548
-
A population study of chromosome 22q11 deletions in infancy
-
Goodship J, Cross I, LiLing J, Wren C. A population study of chromosome 22q11 deletions in infancy. Arch Dis Child. 1998; 79:348-51.
-
(1998)
Arch Dis Child
, vol.79
, pp. 348-351
-
-
Goodship, J.1
Cross, I.2
Liling, J.3
Wren, C.4
-
2
-
-
0033753819
-
The 22q11 deletion syndromes
-
Scambler PJ. The 22q11 deletion syndromes. Hum Mol Genet. 2000;9:2421-6.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 2421-2426
-
-
Scambler, P.J.1
-
3
-
-
35148879740
-
Molecular and genetic aspects of DiGeorge/velocardiofacial syndrome
-
Driscoll DA. Molecular and genetic aspects of DiGeorge/velocardiofacial syndrome. Methods Mol Med. 2006;126:43-55.
-
(2006)
Methods Mol Med
, vol.126
, pp. 43-55
-
-
Driscoll, D.A.1
-
4
-
-
57049132697
-
Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome
-
Bassett AS, Marshall CR, Lionel AC, Chow EW, Scherer SW. Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome. Hum Mol Genet. 2008;17:4045-53.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 4045-4053
-
-
Bassett, A.S.1
Marshall, C.R.2
Lionel, A.C.3
Chow, E.W.4
Scherer, S.W.5
-
5
-
-
33846401106
-
Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome
-
Weksberg R, Stachon AC, Squire JA, et al. Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome. Hum Genet. 2007;120:837-45.
-
(2007)
Hum Genet
, vol.120
, pp. 837-845
-
-
Weksberg, R.1
Stachon, A.C.2
Squire, J.A.3
-
6
-
-
27444447025
-
Clinical features of 78 adults with 22q11 Deletion Syndrome
-
Bassett AS, Chow EW, Husted J, et al. Clinical features of 78 adults with 22q11 Deletion Syndrome. Am J Med Genet. 2005;138: 307-13.
-
(2005)
Am J Med Genet
, vol.138
, pp. 307-313
-
-
Bassett, A.S.1
Chow, E.W.2
Husted, J.3
-
7
-
-
0017821181
-
A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: Velo-cardio-facial syndrome
-
Shprintzen RJ, Goldberg RB, Lewin ML, et al. A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. Cleft Palate J. 1978;15:56-62.
-
(1978)
Cleft Palate J
, vol.15
, pp. 56-62
-
-
Shprintzen, R.J.1
Goldberg, R.B.2
Lewin, M.L.3
-
8
-
-
0031659846
-
Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome
-
Matsuoka R, Kimura M, Scambler PJ, et al. Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome. Hum Genet. 1998;103:70-80.
-
(1998)
Hum Genet
, vol.103
, pp. 70-80
-
-
Matsuoka, R.1
Kimura, M.2
Scambler, P.J.3
-
9
-
-
0032882849
-
High rates of schizophrenia in adults with velo-cardio-facial syndrome
-
Murphy KC, Jones LA, Owen MJ. High rates of schizophrenia in adults with velo-cardio-facial syndrome. Arch Gen Psychiatry. 1999;56:940-5.
-
(1999)
Arch Gen Psychiatry
, vol.56
, pp. 940-945
-
-
Murphy, K.C.1
Jones, L.A.2
Owen, M.J.3
-
11
-
-
3343012130
-
Increased prevalence of unprovoked seizures in patients with a 22q11.2 deletion
-
Kao A, Mariani J, McDonald-McGinn DM, et al. Increased prevalence of unprovoked seizures in patients with a 22q11.2 deletion. Am J Med Genet. 2004;129A:29-34.
-
(2004)
Am J Med Genet
, vol.129 A
, pp. 29-34
-
-
Kao, A.1
Mariani, J.2
McDonald-Mcginn, D.M.3
-
12
-
-
16944364802
-
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: A European collaborative study
-
Ryan AK, Goodship JA, Wilson DI, et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet. 1997; 34:798-804.
-
(1997)
J Med Genet
, vol.34
, pp. 798-804
-
-
Ryan, A.K.1
Goodship, J.A.2
Wilson, D.I.3
-
13
-
-
33750580533
-
Polymicrogyria and deletion 22q11.2 syndrome: Window to the etiology of a common cortical malformation
-
Robin NH, Taylor CJ, McDonald-McGinn DM, et al. Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation. Am J Med Genet. 2006;140:2416-25.
-
(2006)
Am J Med Genet
, vol.140
, pp. 2416-2425
-
-
Robin, N.H.1
Taylor, C.J.2
McDonald-Mcginn, D.M.3
-
14
-
-
57749208706
-
Neuropathologic features in adults with 22q11.2 deletion syndrome
-
Kiehl TR, Chow EW, Mikulis DJ, George SR, Bassett AS. Neuropathologic features in adults with 22q11.2 deletion syndrome. Cereb Cortex. 2009;19:153-64.
-
(2009)
Cereb Cortex
, vol.19
, pp. 153-164
-
-
Kiehl, T.R.1
Chow, E.W.2
Mikulis, D.J.3
George, S.R.4
Bassett, A.S.5
-
15
-
-
33746123033
-
Hippocampal volume reduction in 22q11.2 deletion syndrome
-
Debbane M, Schaer M, Farhoumand R, Glaser B, Eliez S. Hippocampal volume reduction in 22q11.2 deletion syndrome. Neuropsychologia. 2006;44:2360-5.
-
(2006)
Neuropsychologia
, vol.44
, pp. 2360-2365
-
-
Debbane, M.1
Schaer, M.2
Farhoumand, R.3
Glaser, B.4
Eliez, S.5
-
16
-
-
0027370619
-
Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: Implications for genetic counselling and prenatal diagnosis
-
Driscoll DA, Salvin J, Sellinger B, et al. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. J Med Genet. 1993;30:813-17.
-
(1993)
J Med Genet
, vol.30
, pp. 813-817
-
-
Driscoll, D.A.1
Salvin, J.2
Sellinger, B.3
-
17
-
-
0034062638
-
Hippocampal malrotation with normal corpus callosum: A new entity?
-
Barsi P, Kenez J, Solymosi D, et al. Hippocampal malrotation with normal corpus callosum: a new entity? Neuroradiology. 2000;42: 339-45.
-
(2000)
Neuroradiology
, vol.42
, pp. 339-345
-
-
Barsi, P.1
Kenez, J.2
Solymosi, D.3
-
18
-
-
70349215360
-
Prevalence of hippocampal malrotation in a population without seizures
-
Gamss RP, Slasky SE, Bello JA, Miller TS, Shinnar S. Prevalence of hippocampal malrotation in a population without seizures. AJNR Am J Neuroradiol. 2009;30:1571-3.
-
(2009)
AJNR Am J Neuroradiol
, vol.30
, pp. 1571-1573
-
-
Gamss, R.P.1
Slasky, S.E.2
Bello, J.A.3
Miller, T.S.4
Shinnar, S.5
-
19
-
-
38949138074
-
Incomplete inversion of the hippocampus a common developmental anomaly
-
Bajic D, Wang C, Kumlien E, et al. Incomplete inversion of the hippocampus-a common developmental anomaly. Eur Radiol. 2008;18:138-42.
-
(2008)
Eur Radiol
, vol.18
, pp. 138-142
-
-
Bajic, D.1
Wang, C.2
Kumlien, E.3
-
20
-
-
26044432780
-
Analysis of shape and positioning of the hippocampal formation: An MRI study in patients with partial epilepsy and healthy controls
-
Bernasconi N, Kinay D, Andermann F, Antel S, Bernasconi A. Analysis of shape and positioning of the hippocampal formation: an MRI study in patients with partial epilepsy and healthy controls. Brain. 2005;128:2442-52.
-
(2005)
Brain
, vol.128
, pp. 2442-2452
-
-
Bernasconi, N.1
Kinay, D.2
Andermann, F.3
Antel, S.4
Bernasconi, A.5
-
21
-
-
70349202060
-
HIMAL is a malformation that predisposes to prolonged febrile seizures: Data from FEBSTAT study
-
Lewis CS, Bello JA. HIMAL is a malformation that predisposes to prolonged febrile seizures: data from FEBSTAT study. Epilepsia. 2006;47 16.
-
(2006)
Epilepsia
, vol.47
, pp. 16
-
-
Lewis, C.S.1
Bello, J.A.2
-
22
-
-
0034064651
-
Children and adolescents with velocardiofacial syndrome: A volumetric MRI study
-
Eliez S, Schmitt JE, White CD, Reiss AL. Children and adolescents with velocardiofacial syndrome: a volumetric MRI study. Am J Psychiatry. 2000;157:409-15.
-
(2000)
Am J Psychiatry
, vol.157
, pp. 409-415
-
-
Eliez, S.1
Schmitt, J.E.2
White, C.D.3
Reiss, A.L.4
-
23
-
-
0035095617
-
Velocardiofacial syndrome: Are structural changes in the temporal and mesial temporal regions related to schizophrenia?
-
Eliez S, Blasey CM, Schmitt EJ, White CD, Hu D, Reiss AL. Velocardiofacial syndrome: are structural changes in the temporal and mesial temporal regions related to schizophrenia? Am J Psychiatry. 2001;158:447-53.
-
(2001)
Am J Psychiatry
, vol.158
, pp. 447-453
-
-
Eliez, S.1
Blasey, C.M.2
Schmitt, E.J.3
White, C.D.4
Hu, D.5
Reiss, A.L.6
-
24
-
-
37849038398
-
Hippocampal volume reduction in children with chromosome 22q11.2 deletion syndrome is associated with cognitive impairment
-
Deboer T, Wu Z, Lee A, Simon TJ. Hippocampal volume reduction in children with chromosome 22q11.2 deletion syndrome is associated with cognitive impairment. Behav Brain Funct. 2007; 3:54.
-
(2007)
Behav Brain Funct
, vol.3
, pp. 54
-
-
Deboer, T.1
Wu, Z.2
Lee, A.3
Simon, T.J.4
-
25
-
-
0035869620
-
A quantitative MRI study of posterior fossa development in velocardiofacial syndrome
-
Eliez S, Schmitt JE, White CD, Wellis VG, Reiss AL. A quantitative MRI study of posterior fossa development in velocardiofacial syndrome. Biol Psychiatry. 2001;49:540-6.
-
(2001)
Biol Psychiatry
, vol.49
, pp. 540-546
-
-
Eliez, S.1
Schmitt, J.E.2
White, C.D.3
Wellis, V.G.4
Reiss, A.L.5
-
26
-
-
3142720255
-
Thalamic reductions in children with chromosome 22q11.2 deletion syndrome
-
Bish JP, Nguyen V, Ding L, Ferrante S, Simon TJ. Thalamic reductions in children with chromosome 22q11.2 deletion syndrome. Neuroreport. 2004;15:1413-15.
-
(2004)
Neuroreport
, vol.15
, pp. 1413-1415
-
-
Bish, J.P.1
Nguyen, V.2
Ding, L.3
Ferrante, S.4
Simon, T.J.5
-
27
-
-
0036641248
-
Increased basal ganglia volumes in velo-cardio-facial syndrome (deletion 22q11.2)
-
Eliez S, Barnea-Goraly N, Schmitt JE, Liu Y, Reiss AL. Increased basal ganglia volumes in velo-cardio-facial syndrome (deletion 22q11.2). Biol Psychiatry. 2002;52:68-70.
-
(2002)
Biol Psychiatry
, vol.52
, pp. 68-70
-
-
Eliez, S.1
Barnea-Goraly, N.2
Schmitt, J.E.3
Liu, Y.4
Reiss, A.L.5
-
28
-
-
3042738235
-
Frontal and caudate alterations in velocardiofacial syndrome (deletion at chromosome 22q11.2)
-
Kates WR, Burnette CP, Bessette BA, et al. Frontal and caudate alterations in velocardiofacial syndrome (deletion at chromosome 22q11.2). J Child Neurol. 2004;19:337-42.
-
(2004)
J Child Neurol
, vol.19
, pp. 337-342
-
-
Kates, W.R.1
Burnette, C.P.2
Bessette, B.A.3
-
29
-
-
15444351738
-
Hippocampal developmental changes in patients with partial epilepsy: Magnetic resonance imaging and clinical aspects
-
Baulac M, De Grissac N, Hasboun D, et al. Hippocampal developmental changes in patients with partial epilepsy: magnetic resonance imaging and clinical aspects. Ann Neurol. 1998;44:223-33.
-
(1998)
Ann Neurol
, vol.44
, pp. 223-233
-
-
Baulac, M.1
De Grissac, N.2
Hasboun, D.3
-
30
-
-
84857224923
-
Magnetic resonance imaging volumetry and clinical analysis of epilepsy patients with unilateral hippocampal abnormality
-
Matsufuji M, Utsunomiya H, Inoue T, Yasumoto S, Takashima S, Mitsudome A. Magnetic resonance imaging volumetry and clinical analysis of epilepsy patients with unilateral hippocampal abnormality. Pediatr Int. 2012;54:19-26.
-
(2012)
Pediatr Int
, vol.54
, pp. 19-26
-
-
Matsufuji, M.1
Utsunomiya, H.2
Inoue, T.3
Yasumoto, S.4
Takashima, S.5
Mitsudome, A.6
-
31
-
-
77953231855
-
Hippocampal development at gestation weeks 23 to An ultrasound study on preterm neonates
-
Bajic D, Ewald U, Raininko R. Hippocampal development at gestation weeks 23 to An ultrasound study on preterm neonates. Neuroradiology. 2010;52:489-94.
-
(2010)
Neuroradiology
, vol.52
, pp. 489-494
-
-
Bajic, D.1
Ewald, U.2
Raininko, R.3
-
32
-
-
33644548669
-
Patterns of hippocampal abnormalities in malformations of cortical development
-
Montenegro MA, Kinay D, Cendes F, et al. Patterns of hippocampal abnormalities in malformations of cortical development. J Neurol Neurosurg Psychiatry. 2006;77:367-71.
-
(2006)
J Neurol Neurosurg Psychiatry
, vol.77
, pp. 367-371
-
-
Montenegro, M.A.1
Kinay, D.2
Cendes, F.3
-
33
-
-
84871546292
-
22q11 gene dosage establishes an adaptive range for sonic hedgehog and retinoic acid signaling during early development
-
Maynard TM, Gopalakrishna D, Meechan D, Paronett E, Newbern J, Lamantia AS. 22q11 gene dosage establishes an adaptive range for sonic hedgehog and retinoic acid signaling during early development. Hum Mol Genet. 2013;22:300-12.
-
(2013)
Hum Mol Genet
, vol.22
, pp. 300-312
-
-
Maynard, T.M.1
Gopalakrishna, D.2
Meechan, D.3
Paronett, E.4
Newbern, J.5
Lamantia, A.S.6
-
34
-
-
77951653299
-
Hippocampal malrotation in pediatric patients with epilepsy associated with complex prefrontal dysfunction
-
Stiers P, Fonteyne A, Wouters H, D'Agostino E, Sunaert S, Lagae L. Hippocampal malrotation in pediatric patients with epilepsy associated with complex prefrontal dysfunction. Epilepsia. 2010;51:546-55.
-
(2010)
Epilepsia
, vol.51
, pp. 546-555
-
-
Stiers, P.1
Fonteyne, A.2
Wouters, H.3
D'Agostino, E.4
Sunaert, S.5
Lagae, L.6
-
35
-
-
4344653696
-
A study of hippocampal shape anomaly in schizophrenia and in families multiply affected by schizophrenia or bipolar disorder
-
Connor SE, Ng V, McDonald C, et al. A study of hippocampal shape anomaly in schizophrenia and in families multiply affected by schizophrenia or bipolar disorder. Neuroradiology. 2004;46:523-34.
-
(2004)
Neuroradiology
, vol.46
, pp. 523-534
-
-
Connor, S.E.1
Ng, V.2
McDonald, C.3
|