-
1
-
-
0000684034
-
Congenital malformations of the brain and skull
-
4th ed. Philadelphia: Lippincott Williams & Wilkins;
-
Barkovich AJ. Congenital malformations of the brain and skull. In: Pediatric Neuroimaging, 4th ed. Philadelphia: Lippincott Williams & Wilkins; 2005.
-
(2005)
Pediatric Neuroimaging
-
-
Barkovich, A.J.1
-
2
-
-
0037390829
-
Lissencephaly and the molecular basis of neuronal migration
-
Kato M, Dobyns WB. Lissencephaly and the molecular basis of neuronal migration. Hum Mol Genet 2003;12: R89-R96.
-
(2003)
Hum Mol Genet
, vol.12
-
-
Kato, M.1
Dobyns, W.B.2
-
3
-
-
26444434815
-
Genotypically defined lissencephalies show distinct pathologies
-
Forman MS, Squier W, Dobyns WB, et al. Genotypically defined lissencephalies show distinct pathologies. J Neuropathol Exp Neurol 2005;64:847-857.
-
(2005)
J Neuropathol Exp Neurol
, vol.64
, pp. 847-857
-
-
Forman, M.S.1
Squier, W.2
Dobyns, W.B.3
-
4
-
-
0033595252
-
Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly
-
Dobyns WB, Truwit CL, Ross ME, et al. Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. Neurology 1999;53:270-277.
-
(1999)
Neurology
, vol.53
, pp. 270-277
-
-
Dobyns, W.B.1
Truwit, C.L.2
Ross, M.E.3
-
5
-
-
0027486966
-
Lissencephaly: A human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13
-
Dobyns WB, Reiner O, Carrozzo R, et al. Lissencephaly: a human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. JAMA 1993; 270:2838-2842.
-
(1993)
JAMA
, vol.270
, pp. 2838-2842
-
-
Dobyns, W.B.1
Reiner, O.2
Carrozzo, R.3
-
6
-
-
0035213853
-
Lissencephaly with cerebellar hypoplasia (LCH): A heterogeneous group of cortical malformations
-
Ross ME, Swanson K, Dobyns WB. Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. Neuropediatrics 2001;32:256-263.
-
(2001)
Neuropediatrics
, vol.32
, pp. 256-263
-
-
Ross, M.E.1
Swanson, K.2
Dobyns, W.B.3
-
7
-
-
0030837406
-
Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities
-
van der Knaap MS, Smit LM, Barth PG, et al. Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities. Ann Neurol 1997; 42:50-59.
-
(1997)
Ann Neurol
, vol.42
, pp. 50-59
-
-
van der Knaap, M.S.1
Smit, L.M.2
Barth, P.G.3
-
8
-
-
0029991119
-
Brain MR in Fukuyama congenital muscular dystrophy
-
Aida N, Tamagawa K, Takada K, et al. Brain MR in Fukuyama congenital muscular dystrophy. AJNR Am J Neuroradiol 1996;17:605-613.
-
(1996)
AJNR Am J Neuroradiol
, vol.17
, pp. 605-613
-
-
Aida, N.1
Tamagawa, K.2
Takada, K.3
-
9
-
-
0028074926
-
MRI of the brain in muscle-eye-brain (MEB) disease
-
Valanne L, Pihko H, Katevuo K, et al. MRI of the brain in muscle-eye-brain (MEB) disease. Neuroradiology 1994; 36:473-476.
-
(1994)
Neuroradiology
, vol.36
, pp. 473-476
-
-
Valanne, L.1
Pihko, H.2
Katevuo, K.3
-
10
-
-
32944460140
-
Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations
-
Mercuri E, Topaloglu H, Brockington M, et al. Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations. Arch Neurol 2006;63: 251-257.
-
(2006)
Arch Neurol
, vol.63
, pp. 251-257
-
-
Mercuri, E.1
Topaloglu, H.2
Brockington, M.3
-
12
-
-
32144433872
-
A developmental and genetic classification for malformations of cortical development
-
Barkovich AJ, Kuzniecky RI, Jackson GD, et al. A developmental and genetic classification for malformations of cortical development. Neurology 2005;65:1873-1887.
-
(2005)
Neurology
, vol.65
, pp. 1873-1887
-
-
Barkovich, A.J.1
Kuzniecky, R.I.2
Jackson, G.D.3
-
13
-
-
0019487358
-
Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in Hutterites
-
Schurig V, Orman AV, Bowen P. Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in Hutterites. Am J Med Genet 1981;9: 43-53.
-
(1981)
Am J Med Genet
, vol.9
, pp. 43-53
-
-
Schurig, V.1
Orman, A.V.2
Bowen, P.3
-
14
-
-
23944470349
-
-
Boycott KM, Flavelle S, Bureau A, et al. Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. Am J Hum Genet 2005;77:477-483.
-
Boycott KM, Flavelle S, Bureau A, et al. Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. Am J Hum Genet 2005;77:477-483.
-
-
-
-
15
-
-
19444378363
-
Merosin-deficient congenital muscular dystrophy (CMD): A study of 25 Brazilian patients using MRI
-
Leite CC, Lucato LT, Martin MGM. Merosin-deficient congenital muscular dystrophy (CMD): a study of 25 Brazilian patients using MRI. Pediatr Radiol 2005;35:572-579.
-
(2005)
Pediatr Radiol
, vol.35
, pp. 572-579
-
-
Leite, C.C.1
Lucato, L.T.2
Martin, M.G.M.3
-
16
-
-
0034192753
-
Brain magnetic resonance imaging abnormalities in merosin-positive congenital muscular dystrophy
-
Philpot J, Pennock J, Cowan F, et al. Brain magnetic resonance imaging abnormalities in merosin-positive congenital muscular dystrophy. Eur J Paediatr Neurol 2000;4:109-114.
-
(2000)
Eur J Paediatr Neurol
, vol.4
, pp. 109-114
-
-
Philpot, J.1
Pennock, J.2
Cowan, F.3
-
17
-
-
0342906570
-
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations
-
Hong SE, Shugart YY, Huang DT, et al. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet 2000;26:93-96.
-
(2000)
Nat Genet
, vol.26
, pp. 93-96
-
-
Hong, S.E.1
Shugart, Y.Y.2
Huang, D.T.3
-
18
-
-
26844470918
-
Autosomal recessive cerebellar hypoplasia in the Hutterite population
-
Glass HC, Boycott KM, Adams C, et al. Autosomal recessive cerebellar hypoplasia in the Hutterite population. Dev Med Child Neurol 2005;47:691-695.
-
(2005)
Dev Med Child Neurol
, vol.47
, pp. 691-695
-
-
Glass, H.C.1
Boycott, K.M.2
Adams, C.3
-
19
-
-
10744226857
-
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan
-
Longman C, Brockington M, Torelli S, et al. Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Hum Mol Genet 2003;12:2853-2861.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2853-2861
-
-
Longman, C.1
Brockington, M.2
Torelli, S.3
-
20
-
-
3042850663
-
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome
-
Beltran-Valero de Bernabé D, Voit T, Longman C, et al. Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. J Med Genet 2004;41:e61.
-
(2004)
J Med Genet
, vol.41
-
-
Beltran-Valero de Bernabé, D.1
Voit, T.2
Longman, C.3
-
21
-
-
26944438148
-
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome
-
van Reeuwijk J, Janssen M, van den Elzen C, et al. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J Med Genet 2005;42:907-912.
-
(2005)
J Med Genet
, vol.42
, pp. 907-912
-
-
van Reeuwijk, J.1
Janssen, M.2
van den Elzen, C.3
-
22
-
-
33646356732
-
The expanding phenotype of POMT1 mutations: From Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation
-
van Reeuwijk J, Maugenre S, van den Elzen C, et al. The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. Hum Mutat 2006;27:453-459.
-
(2006)
Hum Mutat
, vol.27
, pp. 453-459
-
-
van Reeuwijk, J.1
Maugenre, S.2
van den Elzen, C.3
-
23
-
-
34250352221
-
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome
-
van Reeuwijk J, Grewal PK, Salih MA, et al. Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome. Hum Genet 2007;121:685-690.
-
(2007)
Hum Genet
, vol.121
, pp. 685-690
-
-
van Reeuwijk, J.1
Grewal, P.K.2
Salih, M.A.3
-
24
-
-
33745057441
-
Defects in tangential neuronal migration of pontine nuclei neurons in the Largemyd mouse are associated with stalled migration in the ventrolateral hindbrain
-
Qu Q, Crandall JE, Luo T, et al. Defects in tangential neuronal migration of pontine nuclei neurons in the Largemyd mouse are associated with stalled migration in the ventrolateral hindbrain. Eur J Neurosci 2006; 23:2877-2886.
-
(2006)
Eur J Neurosci
, vol.23
, pp. 2877-2886
-
-
Qu, Q.1
Crandall, J.E.2
Luo, T.3
-
25
-
-
37849013276
-
A developmental classification of malformations of the brainstem
-
Barkovich AJ, Millen KJ, Dobyns WB. A developmental classification of malformations of the brainstem. Ann Neurol 2007;62:625-639.
-
(2007)
Ann Neurol
, vol.62
, pp. 625-639
-
-
Barkovich, A.J.1
Millen, K.J.2
Dobyns, W.B.3
-
26
-
-
0032822119
-
X-linked lissencephaly with absent corpus callosum and ambiguous genitalia
-
Dobyns WB, Berry-Kravis E, Havernick NJ, et al. X-linked lissencephaly with absent corpus callosum and ambiguous genitalia. Am J Med Genet 1999;86:331-337.
-
(1999)
Am J Med Genet
, vol.86
, pp. 331-337
-
-
Dobyns, W.B.1
Berry-Kravis, E.2
Havernick, N.J.3
-
27
-
-
33947417339
-
Agenesis of the corpus callosum: Genetic, developmental and functional aspects of connectivity
-
Paul LK, Brown WS, Adolphs R, et al. Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity. Nat Rev Neurosci 2007;8:287-299.
-
(2007)
Nat Rev Neurosci
, vol.8
, pp. 287-299
-
-
Paul, L.K.1
Brown, W.S.2
Adolphs, R.3
-
28
-
-
0029655911
-
Absence makes the search grow longer
-
Dobyns WB. Absence makes the search grow longer. Am J Hum Genet 1996;58:7-16.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 7-16
-
-
Dobyns, W.B.1
-
29
-
-
33845565114
-
Magnetic resonance imaging and histological studies of corpus callosal and hippocampal abnormalities linked to doublecortin deficiency
-
Kappeler C, Dhenain M, Tuy FPD, et al. Magnetic resonance imaging and histological studies of corpus callosal and hippocampal abnormalities linked to doublecortin deficiency. J Comp Neurol 2007;500:239-254.
-
(2007)
J Comp Neurol
, vol.500
, pp. 239-254
-
-
Kappeler, C.1
Dhenain, M.2
Tuy, F.P.D.3
-
30
-
-
30744444931
-
The phenotypic spectrum of Baraitser-Winter Syndrome: A new case and review of literature
-
Ganesh A, Al-Kindi A, Jain R, Raeburn S. The phenotypic spectrum of Baraitser-Winter Syndrome: a new case and review of literature. J AAPOS 2005;9:604-606.
-
(2005)
J AAPOS
, vol.9
, pp. 604-606
-
-
Ganesh, A.1
Al-Kindi, A.2
Jain, R.3
Raeburn, S.4
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