-
1
-
-
0025734430
-
The spectrum of lissencephaly: Report of ten cases analyzed by magnetic resonance imaging
-
Barkovich AJ, Koch TK, Carrol CL. The spectrum of lissencephaly: report of ten cases analyzed by magnetic resonance imaging. Ann Neurol 1991;30:139-146.
-
(1991)
Ann Neurol
, vol.30
, pp. 139-146
-
-
Barkovich, A.J.1
Koch, T.K.2
Carrol, C.L.3
-
2
-
-
10144257864
-
X-linked malformations of neuronal migration
-
Dobyns WB, Andermann E, Andermann F, et al. X-linked malformations of neuronal migration. Neurology 1996;47:331-339.
-
(1996)
Neurology
, vol.47
, pp. 331-339
-
-
Dobyns, W.B.1
Andermann, E.2
Andermann, F.3
-
3
-
-
0004042407
-
-
New York: Oxford University Press
-
Norman MG, McGillivray BC, Kalousek DK, Hill A, Poskitt KJ. Congenital malformations of the brain: pathological, embryological, clinical, radiological and genetic aspects. New York: Oxford University Press, 1995.
-
(1995)
Congenital Malformations of the Brain: Pathological, Embryological, Clinical, Radiological and Genetic Aspects
-
-
Norman, M.G.1
McGillivray, B.C.2
Kalousek, D.K.3
Hill, A.4
Poskitt, K.J.5
-
4
-
-
0028024069
-
Band heterotopia: Correlation of outcome with magnetic resonance imaging parameters
-
Barkovich AJ, Guerrini R, Battaglia G, et al. Band heterotopia: correlation of outcome with magnetic resonance imaging parameters. Ann Neurol 1994;36:609-617.
-
(1994)
Ann Neurol
, vol.36
, pp. 609-617
-
-
Barkovich, A.J.1
Guerrini, R.2
Battaglia, G.3
-
5
-
-
0027176708
-
Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats
-
Reiner O, Carrozzo R, Shen Y, et al. Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature 1993;364:717-721.
-
(1993)
Nature
, vol.364
, pp. 717-721
-
-
Reiner, O.1
Carrozzo, R.2
Shen, Y.3
-
6
-
-
0031046839
-
A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3
-
Chong SS, Pack SD, Roschke AV, et al. A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. Hum Mol Genet 1997;6:147-155.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 147-155
-
-
Chong, S.S.1
Pack, S.D.2
Roschke, A.V.3
-
7
-
-
0028023599
-
Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase
-
Hattori M, Adachi H, Tsujimoto M, Arai N, Inoue K. Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase. Nature 1994;370:216-218.
-
(1994)
Nature
, vol.370
, pp. 216-218
-
-
Hattori, M.1
Adachi, H.2
Tsujimoto, M.3
Arai, N.4
Inoue, K.5
-
8
-
-
0025968152
-
Clinical and molecular diagnosis of Miller-Dieker syndrome
-
Dobyns WB, Curry CJR, Hoyme HE, Turlington L, Ledbetter DH. Clinical and molecular diagnosis of Miller-Dieker syndrome. Am J Hum Genet 1991;48:584-594.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 584-594
-
-
Dobyns, W.B.1
Curry, C.2
Hoyme, H.E.3
Turlington, L.4
Ledbetter, D.H.5
-
9
-
-
0031040866
-
Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome
-
Lo Nigro C, Chong SS, Smith ACM, Dobyns WB, Ledbetter DH. Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. Hum Mol Genet 1997;6: 157-164.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 157-164
-
-
Lo Nigro, C.1
Chong, S.S.2
Smith, A.C.M.3
Dobyns, W.B.4
Ledbetter, D.H.5
-
10
-
-
7844223263
-
LIS1 and XLIS (DCX) mutations cause most human classical lissencephaly, but different patterns of malformation
-
Pilz DT, Matsumoto N, Minnerath S, et al. LIS1 and XLIS (DCX) mutations cause most human classical lissencephaly, but different patterns of malformation. Hum Mol Genet 1998; 7:2029-2037.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 2029-2037
-
-
Pilz, D.T.1
Matsumoto, N.2
Minnerath, S.3
-
11
-
-
0032195408
-
Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence
-
Pilz DT, Macha ME, Precht KS, Smith ACM, Dobyns WB, Ledbetter DH. Fluorescence in situ hybridization analysis with LIS1 specific probes reveals a high deletion mutation rate in isolated lissencephaly sequence. Genet Med 1998;1: 29-33.
-
(1998)
Genet Med
, vol.1
, pp. 29-33
-
-
Pilz, D.T.1
Macha, M.E.2
Precht, K.S.3
Smith, A.C.M.4
Dobyns, W.B.5
Ledbetter, D.H.6
-
12
-
-
8244247118
-
Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): A gene causing neuronal migration defects in human brain
-
Ross ME, Allen KM, Srivistava AK, et al. Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain. Hum Mol Genet 1997;6:555-562.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 555-562
-
-
Ross, M.E.1
Allen, K.M.2
Srivistava, A.K.3
-
13
-
-
17444444915
-
A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome
-
des Portes V, Pinard JM, Billuart P, et al. A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome. Cell 1998;92:51-61.
-
(1998)
Cell
, vol.92
, pp. 51-61
-
-
Des Portes, V.1
Pinard, J.M.2
Billuart, P.3
-
14
-
-
0032498306
-
Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein
-
Gleeson JG, Allen KA, Fox JW, et al. Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell 1998;92:63-72.
-
(1998)
Cell
, vol.92
, pp. 63-72
-
-
Gleeson, J.G.1
Allen, K.A.2
Fox, J.W.3
-
15
-
-
0031829069
-
Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects
-
Sossey-Alaoui K, Hartung AJ, Guerrini R, et al. Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is mutated in human X-linked neuronal migration defects. Hum Mol Genet 1998;7:1327-1332.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1327-1332
-
-
Sossey-Alaoui, K.1
Hartung, A.J.2
Guerrini, R.3
-
16
-
-
0026780723
-
Causal heterogeneity in isolated lissencephaly
-
Dobyns WB, Elias ER, Newlin AC, Pagon RA, Ledbetter DH. Causal heterogeneity in isolated lissencephaly. Neurology 1992;42:1375-1388.
-
(1992)
Neurology
, vol.42
, pp. 1375-1388
-
-
Dobyns, W.B.1
Elias, E.R.2
Newlin, A.C.3
Pagon, R.A.4
Ledbetter, D.H.5
-
17
-
-
0032965786
-
Characterization of mutations in the gene doublecortin in patients with double cortex syndrome
-
Gleeson JG, Minnerath SR, Allen KM, et al. Characterization of mutations in the gene doublecortin in patients with double cortex syndrome. Ann Neurol 1999;45:146-153.
-
(1999)
Ann Neurol
, vol.45
, pp. 146-153
-
-
Gleeson, J.G.1
Minnerath, S.R.2
Allen, K.M.3
-
18
-
-
0029072773
-
Previously apparently undescribed syndrome: Shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation
-
Ramer JC, Lin AE, Dobyns WB, et al. Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation. Am J Med Genet 1995;57:403-409.
-
(1995)
Am J Med Genet
, vol.57
, pp. 403-409
-
-
Ramer, J.C.1
Lin, A.E.2
Dobyns, W.B.3
|