-
5
-
-
0026606026
-
Nonlissencephalic cortical dysplasias: Correlation of imaging findings with clinical deficits
-
(1992)
AJNR
, vol.13
, pp. 95-103
-
-
Barkovich, A.J.1
Kjos, B.O.2
-
6
-
-
0028024069
-
Band heterotopia: Correlation of outcome with magnetic resonance imaging parameters
-
(1994)
Ann Neurol
, vol.36
, pp. 609-617
-
-
Barkovich, A.J.1
Guerrini, R.2
Battaglia, G.3
Kalifa, G.4
N'Guyen, T.5
Parmeggiani, A.6
Santucci, M.7
Giovanardi-Rossi, P.8
Granata, T.9
D'Incerti, L.10
-
15
-
-
0034642292
-
The location and type of mutation predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene
-
(2000)
Hum Mol Genet
, vol.9
, pp. 3019-3028
-
-
Cardoso, C.1
Leventer, R.J.2
Matsumoto, N.3
Kuc, J.A.4
Ramocki, M.B.5
Mewborn, S.K.6
Dudlicek, L.L.7
May, L.F.8
Mills, P.L.9
Das, S.10
Pilz, D.T.11
Dobyns, W.B.12
Ledbetter, D.H.13
-
16
-
-
9544227474
-
Role of tissue factor in embryonic blood vessel development
-
(1996)
Nature
, vol.383
, pp. 73-75
-
-
Carmeliet, P.1
Mackman, N.2
Moons, L.3
Luther, T.4
Gressens, P.5
Van Vlaenderen, I.6
Demunck, H.7
Kasper, M.8
Breier, G.9
Evrard, P.10
Muller, M.11
Risau, W.12
Edgington, T.13
Collen, D.14
-
23
-
-
0001883637
-
Tuberous sclerosis: Relationships between clinical and EEG findings and magnetic resonance imaging
-
Guerrini R, Andermann F, Canapicchi R, Roger J, Zifkin B, Pfanner P, editors Philadelphia: Lippincott-Raven
-
(1996)
Dysplasias of cerebral cortex and epilepsy
, pp. 191-198
-
-
Curatolo, P.1
-
27
-
-
0035167932
-
Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs
-
(2001)
Am J Hum Genet
, vol.68
, pp. 64-80
-
-
Dabora, S.L.1
Jozwiak, S.2
Franz, D.N.3
Roberts, P.S.4
Nieto, A.5
Chung, J.6
Choy, Y.S.7
Reeve, M.P.8
Thiele, E.9
Egelhoff, J.C.10
Kasprzyk-Obara, J.11
Domanska-Pakiela, D.12
Kwiatkowski, D.J.13
-
29
-
-
17444444915
-
Identification of a novel CNS gene required for neuronal migration and involved in Xlinked subcortical laminar heterotopia and lissencephaly syndrome
-
(1998)
Cell
, vol.92
, pp. 51-61
-
-
Des Portes, V.1
Pinard, J.M.2
Billuart, P.3
Vinet, M.C.4
Koulakoff, A.5
Carrie, A.6
Gelot, A.7
Dupuis, E.8
Motte, J.9
Berwald-Netter, Y.10
Catala, M.11
Kahn, A.12
Beldjord, C.13
Chelly, J.14
-
30
-
-
7144222745
-
Doublecortin is the major gene causing X-linked subcortical laminar heterotopia (SCLH)
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1063-1070
-
-
Des Portes, V.1
Francis, F.2
Pinard, J.M.3
Desguerre, I.4
Moutard, M.L.5
Snoeck, I.6
Meiners, L.C.7
Capron, F.8
Cusmai, R.9
Ricci, S.10
Motte, J.11
Echenne, B.12
Ponsot, G.13
Dulac, O.14
Chelly, J.15
Beldjord, C.16
-
31
-
-
0030996253
-
The human reelin gene: Isolation, sequencing, and mapping on chromosome 7
-
(1997)
Genome Res
, vol.7
, pp. 157-164
-
-
DeSilva, U.1
D'Arcangelo, G.2
Braden, V.V.3
Chen, J.4
Miao, G.G.5
Curran, T.6
Green, E.D.7
-
34
-
-
10144257864
-
X-linked malformations of neuronal migration
-
(1996)
Neurology
, vol.47
, pp. 331-339
-
-
Dobyns, W.B.1
Andermann, E.2
Andermann, F.3
Czapansky-Beilman, D.4
Dubeau, F.5
Dulac, O.6
Guerrini, R.7
Hirsch, B.8
Ledbetter, D.H.9
Lee, N.S.10
Motte, J.11
Pinard, J.M.12
Radtke, R.A.13
Ross, M.E.14
Tampieri, D.15
Walsh, C.A.16
Truwit, C.L.17
-
35
-
-
0030701560
-
Bilateral periventricular nodular heterotopia (BPNH) with mental retardation and syndactyly in boys: A new X-linked mental retardation syndrome
-
(1997)
Neurology
, vol.49
, pp. 1042-1047
-
-
Dobyns, W.B.1
Guerrini, R.2
Czapansky-Beilman, D.K.3
Pierpont, M.E.4
Breningstall, G.5
Yock, D.H.6
Bonanni, P.7
Truwit, C.L.8
-
36
-
-
0028856316
-
Periventricular and subcortical nodular heterotopia. A study of 33 patients
-
(1995)
Brain
, vol.118
, pp. 1273-1287
-
-
Dubeau, F.1
Tampieri, D.2
Lee, N.3
Andermann, E.4
Carpenter, S.5
Leblanc, R.6
Olivier, A.7
Radtke, R.8
Villemure, J.G.9
Andermann, F.10
-
37
-
-
0033624279
-
Reelin binds alpha3beta1 integrin and inhibits neuronal migration
-
(2000)
Neuron
, vol.27
, pp. 33-44
-
-
Dulabon, L.1
Olson, E.C.2
Taglienti, M.G.3
Eisenhuth, S.4
McGrath, B.5
Walsh, C.A.6
Kreidberg, J.A.7
Anton, E.S.8
-
41
-
-
0034618076
-
The LIS1-related NUDF protein of Aspergillus nidulans interacts with the coiled-coil domain of the NUDE/RO11l protein
-
(2000)
J Cell Biol
, vol.150
, pp. 681-688
-
-
Efimov, V.P.1
Morris, N.R.2
-
42
-
-
0027770784
-
Identification and characterization of the tuberous sclerosis gene on chromosome 16
-
(1993)
Cell
, vol.75
, pp. 1305-1315
-
-
-
44
-
-
0030707886
-
A number of schizencephaly patients including 2 brothers are heterozygous for germline mutations in the homeobox gene EMX2
-
(1997)
Eur J Hum Genet
, vol.5
, pp. 186-190
-
-
Faiella, A.1
Brunelli, S.2
Granata, T.3
D'Incerti, L.4
Cardini, R.5
Lenti, C.6
Battaglia, G.7
Boncinelli, E.8
-
50
-
-
0033042045
-
Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly
-
(1999)
Ann Neurol
, vol.45
, pp. 154-156
-
-
Fogli, A.1
Guerrini, R.2
Moro, F.3
Fernandez-Alvarez, E.4
Livet, M.O.5
Renieri, A.6
Cioni, M.7
Pilz, D.T.8
Veggiotti, P.9
Rossi, E.10
Ballabio, A.11
Carrozzo, R.12
-
51
-
-
0032422555
-
Mutations in filamin I prevent migration of cerebral cortical neurons in human periventricular heterotopia
-
(1998)
Neuron
, vol.21
, pp. 1315-1325
-
-
Fox, J.W.1
Lamperti, E.D.2
Eksioglu, Y.Z.3
Hong, S.E.4
Feng, Y.5
Graham, D.A.6
Scheffer, I.E.7
Dobyns, W.B.8
Hirsch, B.A.9
Radtke, R.A.10
Berkovic, S.F.11
Huttenlocher, P.R.12
Walsh, C.A.13
-
55
-
-
0034168369
-
Classical lissencephaly and double cortex (subcortical band heterotopia): LIS1 and doublecortin
-
(2000)
Curr Opin Neurol
, vol.13
, pp. 121-125
-
-
Gleeson, J.G.1
-
56
-
-
0032498306
-
Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein
-
(1998)
Cell
, vol.92
, pp. 63-72
-
-
Gleeson, J.G.1
Allen, K.M.2
Fox, J.W.3
Lamperti, E.D.4
Berkovic, S.5
Scheffer, I.6
Cooper, E.C.7
Dobyns, W.B.8
Minnetath, S.R.9
Ross, M.E.10
Walsh, C.A.11
-
57
-
-
0033967577
-
Genetic and neuroradiological heterogeneity of double cortex syndrome
-
(2000)
Ann Neurol
, vol.47
, pp. 265-269
-
-
Gleeson, J.G.1
Luo, R.F.2
Grant, P.E.3
Guerrini, R.4
Huttenlocher, P.R.5
Berg, M.J.6
Ricci, S.7
Cusmai, R.8
Wheless, J.W.9
Berkovic, S.10
Scheffer, I.11
Dobyns, W.B.12
Walsh, C.A.13
-
60
-
-
0002119354
-
Schizencephaly: Clinical findings
-
Guerrini R Andermann E Canapicchi R, Roger J, Zifkin BG, Pfanner P, editors.Philadelphia, New York: Lippincott-Raven
-
(1996)
Dysplasias of cerebral cortex and epilepsy
, pp. 407-415
-
-
Granata, T.1
Battaglia, G.2
D'Incerti, L.3
Franceschetti, S.4
Spreafico, R.5
Savoiardo, M.6
Avanzini, G.7
-
62
-
-
0025184841
-
Human endothelial actin-binding protein [ABP-280, nonmuscle filamin]: A molecular leaf spring
-
(1990)
J Cell Biol
, vol.111
, pp. 1089-1105
-
-
Gorlin, J.B.1
Yamin, R.2
Egan, S.3
Stewart, M.4
Stossel, T.P.5
Kwiatkowski, D.J.6
Hartwig, J.H.7
-
63
-
-
0033930097
-
Familial perisylvian polymicrogyria: A new familial syndrome of cortical maldevelopment
-
(2000)
Ann Neurol
, vol.48
, pp. 39-48
-
-
Guerreiro, M.M.1
Andennann, E.2
Guerrini, R.3
Dobyns, W.B.4
Kuzniecky, R.5
Silver, K.6
Van Bogaert, P.7
Gillain, C.8
David, P.9
Ambrosetto, G.10
Rosati, A.11
Bartolomei, F.12
Parmeggiani, A.13
Paetau, R.14
Salonen, O.15
Ignatius, J.16
Borgatti, R.17
Zucca, C.18
Bastos, A.C.19
Palmini, A.20
Fernandes, W.21
Montenegro, M.A.22
Cendes, F.23
Andermann, E.24
more..
-
64
-
-
0031722883
-
Bilateral periventricular nodular heterotopia with mental retardation and frontonasal malformation
-
(1998)
Neurology
, vol.51
, pp. 499-503
-
-
Guerrini, R.1
Dobyns, W.B.2
-
65
-
-
0026649728
-
Epilepsy and focal gyral anomalies detected by magnetic resonance imaging: Electroclinico-morphological correlations and follow-up
-
(1992)
Dev Med Child Neurol
, vol.34
, pp. 706-718
-
-
Guerrini, R.1
Dravet, C.2
Raybaud, C.3
Roger, J.4
Bureau, M.5
Battaglia, A.6
Livet, M.O.7
Gambarelli, D.8
Robain, O.9
-
66
-
-
0026721692
-
Neurological findings and seizure outcome in children with bilateral opercular macrogyric-like changes detected by magnetic resonance imaging
-
(1992)
Dev Med Child Neurol
, vol.34
, pp. 694-705
-
-
Guerrini, R.1
Dravet, C.2
Raybaud, C.3
Roger, J.4
Bureau, M.5
Battaglia, A.6
Livet, M.O.7
Colicchio, G.8
Robain, O.9
-
68
-
-
0001887838
-
Diffuse and localized dysplasias of cerebral cortex: Clinical presentation, outcome, and proposal for a morphologic MRI classification based on a study of 90 patients
-
Guerrini R, Andermann F, Canapicchi R, Roger J. Zifkin BG, Planner P, editors. Philadelphia, New York: Lippincott-Raven
-
(1996)
Dysplasias of cerebral cortex and epilepsy
, pp. 255-269
-
-
Guerrini, R.1
Dravet, Ch.2
Bureau, M.3
Mancini, J.4
Canapicchi, R.5
Livet, M.O.6
Belmonte, A.7
-
70
-
-
18244413664
-
Bilateral parasagittal parietooccipital polymicrogyria and epilepsy
-
(1997)
Ann Neurol
, vol.41
, pp. 65-73
-
-
Guerrini, R.1
Dubeau, F.2
Dulac, O.3
Barkovich, A.J.4
Kuzniecky, R.5
Fett, C.6
Jones-Gotman, M.7
Canapicchi, R.8
Cross, H.9
Fish, D.10
Bonanni, P.11
Jambaqué, I.12
Andermann, F.13
-
71
-
-
0031723314
-
Multilobar polymicrogyria, intractable drop attack seizures and sleep-related electrical status epilepticus
-
(1998)
Neurology
, vol.51
, pp. 504-512
-
-
Guerrini, R.1
Genton, P.2
Bureau, M.3
Parmeggiani, A.4
Salas-Puig, X.5
Santucci, M.6
Bonanni, P.7
Ambrosetto, G.8
Dravet, C.9
-
73
-
-
0033008615
-
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies. A new syndrome?
-
(1999)
Clin Dysmorphol
, vol.81
, pp. 1-4
-
-
Guion-Almeida, M.L.1
Richieri-Costa, A.2
-
81
-
-
0029072876
-
The reeler gene encodes a protein with an EGFlike motif expressed by pioneer neurons
-
(1995)
Nat Genet
, vol.10
, pp. 77-83
-
-
Hirotsune, S.1
Takahara, T.2
Sasaki, N.3
Hirose, K.4
Yoshiki, A.5
Ohashi, T.6
Kusakabe, M.7
Murakami, Y.8
Muramatsu, M.9
Watanabe, S.10
Nakao, K.11
Katsuki, M.12
Hayashizaki, Y.13
-
82
-
-
0342906570
-
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations
-
(2000)
Nat Genet
, vol.26
, pp. 93-96
-
-
Hong, S.E.1
Shugart, Y.Y.2
Huang, D.T.3
Al Shahwan, S.4
Grant, P.E.5
Hourihane, J.O.6
Martin, N.D.T.7
Walsh, C.A.8
-
86
-
-
0033365408
-
Comprehensive mutation analysis of TSC1 and TSC2 and phenotypic correlations in 150 families with tuberous sclerosis
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1305-1315
-
-
Jones, A.C.1
Shyamsundar, M.M.2
Thomas, M.W.3
Maynard, J.4
Idziaszczyk, S.5
Tomkins, S.6
Sampson, J.R.7
Cheadle, J.P.8
-
88
-
-
0032560851
-
An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy
-
(1998)
Nature
, vol.394
, pp. 388-392
-
-
Kobayashi, K.1
Nakahori, Y.2
Miyake, M.3
Matsumura, K.4
Kondo-lida, E.5
Nomura, Y.6
Segawa, M.7
Yoshioka, M.8
Saito, K.9
Osawa, M.10
Hamano, K.11
Sakakihara, Y.12
Nonaka, I.13
Nakagome, Y.14
Kanazawa, I.15
Nakamura, Y.16
Tokunaga, K.17
Toda, T.18
-
89
-
-
0035793428
-
Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin
-
(2001)
FEBS Lett
, vol.489
, pp. 192-196
-
-
Kobayashi, K.1
Sasaki, J.2
Kondo-lida, E.3
Fukuda, Y.4
Kinoshita, M.5
Sunada, Y.6
Nakamura, Y.7
Toda, T.8
-
90
-
-
0032723417
-
Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy [FCMD]
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2303-2309
-
-
Kondo-lida, E.1
Kobayashi, K.2
Watanabe, M.3
Sasaki, J.4
Kumagai, T.5
Koide, H.6
Saito, K.7
Osawa, M.8
Nakamura, Y.9
Toda, T.10
-
98
-
-
0026894185
-
An archipelago of CpG islands in Xq28: Identification and fine mapping of 20 new CpG islands of the human X chromosome
-
(1992)
Hum Mol Genet
, vol.1
, pp. 275-280
-
-
Maestrini, E.1
Tamanini, F.2
Kioschis, P.3
Gimbo, E.4
Marinelli, P.5
Tribioli, C.6
D'Urso, M.7
Palmieri, G.8
Poustka, A.9
Toniolo, D.10
-
99
-
-
0027190784
-
Mapping of two genes encoding isoforms of the actin binding protein ABP-280, a dystrophin like protein, to Xq28 and to chromosome 7
-
(1993)
Hum Mol Genet
, vol.2
, pp. 761-766
-
-
Maestrini, E.1
Patrosso, C.2
Mancini, M.3
Rivella, S.4
Rocchi, M.5
Repetto, M.6
Villa, A.7
Frattini, A.8
Zoppe, M.9
Vezzoni, P.10
Toniolo, D.11
-
100
-
-
0034143343
-
The lack of Emx2 causes impairment of Reelin signaling and defects of neuronal migration in the developing cerebral cortex
-
(2000)
J Neurosci
, vol.20
, pp. 1109-1118
-
-
Boncinelli, E.1
-
102
-
-
0035145745
-
Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 5-12
-
-
Matsumoto, N.1
Leventer, R.J.2
Kuc, J.A.3
Mewborn, S.K.4
Dudlicek, L.L.5
Ramocki, M.B.6
Pilz, D.T.7
Mills, P.L.8
Das, S.9
Ross, M.E.10
Ledbetter, D.H.11
Dobyns, W.B.12
-
105
-
-
0002529249
-
Electrophysiology of heterotopic gray matter in the "double cortex" syndrome
-
(1992)
Epilepsia 33
, Issue.SUPPL. 3
, pp. 76
-
-
Morrell, F.1
Whisler, W.W.2
Hoeppner, T.J.3
Smith, M.C.4
Kanner, A.M.5
Pierre-Louis, J.-C.6
Chez, M.G.7
Hasegawa, H.8
-
107
-
-
0002993862
-
Usefulness of stereo EEG investigations in partial epilepsy associated with cortical dysplastic lesions and gray matter heterotopia
-
Guerrini R, Andermann F, Canapicchi R, Roger J, Zifkin B, Pfanner P, editors. Philadelphia, New York: Lippincott-Raven
-
(1996)
Dysplasias of cerebral cortex and epilepsy
, pp. 383-394
-
-
Munari, C.1
Francione, S.2
Kahane, P.3
Tassi, L.4
Hoffmann, D.5
Garrel, S.6
Pasquier, B.7
-
108
-
-
0034520636
-
NUDEL is a novel Cdk5 substrate that associates with LIS1 and cytoplasmic dynein
-
(2000)
Neuron
, vol.28
, pp. 697-711
-
-
Niethammer, M.1
Smith, D.S.2
Ayala, R.3
Peng, J.4
Ko, J.5
Lee, M.S.6
Morabito, M.7
Tsai, L.H.8
-
110
-
-
0029008666
-
The reeler gene-associated antigen on Cajal-Retzius neurons is a crucial molecule for laminar organization of cortical neurons
-
(1995)
Neuron
, vol.14
, pp. 899-912
-
-
Ogawa, M.1
Miyata, T.2
Nakajima, K.3
Yagyu, K.4
Seike, M.5
Ikenaka, K.6
Yamamoto, H.7
Mikoshiba, K.8
-
112
-
-
0026055460
-
Diffuse cortical dysplasia, or the double cortex syndrome: The clinical and epileptic spectrum in 10 patients
-
(1991)
Neurology
, vol.41
, pp. 1656-1662
-
-
Palmini, A.1
Andermann, F.2
Aicardi, J.3
Dulac, O.4
Chaves, F.5
Ponsot, G.6
Pinard, J.M.7
Goutieres, F.8
Livingston, J.9
Tampieri, D.10
-
114
-
-
0344423821
-
Subcortical band heterotopia in rare affected males can be caused by missense mutations in DCX [XLIS] or LIS1
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1757-1760
-
-
Pilz, D.T.1
Kuc, J.2
Matsumoto, N.3
Bodurtha, J.4
Bernadi, B.5
Tassinari, C.A.6
Dobyns, W.B.7
Ledbetter, D.H.8
-
116
-
-
0033736569
-
Periventricular nodular heterotopia in patients with filamin-1 gene mutations: Neuroimaging findings
-
(2000)
Pediatr Radiol
, vol.30
, pp. 748-755
-
-
Poussaint, T.Y.1
Fox, J.W.2
Dobyns, W.B.3
Radtke, R.4
Scheffer, I.E.5
Berkovic, S.F.6
Barnes, P.D.7
Huttenlocher, P.R.8
Walsh, C.A.9
-
117
-
-
0028168936
-
Two loci for tuberous sclerosis: One on 9q34 and one on 16p13
-
(1994)
Ann Hum Genet
, vol.58
, pp. 107-127
-
-
Povey, S.1
Burley, M.W.2
Attwood, J.3
Benham, F.4
Hunt, D.5
Jeremiah, S.J.6
Franklin, D.7
Gillett, G.8
Malas, S.9
Robson, E.B.10
Tippett, P.11
Edwards, J.H.12
Kwiatkowski, D.J.13
Super, M.14
Mueller, R.15
Fryer, A.16
Clarke, A.17
Webb, D.18
Osborne, J.19
-
119
-
-
0027176708
-
Isolation of a MillerDieker lissencephaly gene containing G protein beta-subunit-like repeats
-
(1993)
Nature
, vol.364
, pp. 717-721
-
-
Reiner, O.1
Carrozzo, R.2
Shen, Y.3
Wehnert, M.4
Faustinella, F.5
Dobyns, W.B.6
Caskey, C.T.7
Ledbetter, D.H.8
-
120
-
-
0029013985
-
Lissencephaly gene [LIS1] expression in the CNS suggests a role in neuronal migration
-
(1995)
J Neurosci
, vol.15
, pp. 3730-3738
-
-
Reiner, O.1
Albrecht, U.2
Gordon, M.3
Chianese, K.A.4
Wong, C.5
Gal-Gerber, O.6
Sapir, T.7
Siracusa, L.D.8
Buchberg, A.M.9
Caskey, C.T.10
-
124
-
-
0021735528
-
L'épilepsie dans la Sclérose Tubéreuse de Bourneville
-
(1984)
Boll Lega It Epil
, vol.45
, Issue.46
, pp. 33-38
-
-
Roger, J.1
Dravet, Ch.2
Boniver, C.3
Magaudda, A.4
Bureau, M.5
Fernandez-Alvarez, E.6
Sanmarti, F.X.7
Fabregues, I.8
Cenraud, B.9
Larrieu, J.L.10
-
125
-
-
8244247118
-
Linkage and physical mapping X-linked lissencephaly/SBH [XLIS]: A novel gene causing neuronal migration defects in human brain
-
(1997)
Hum Mol Genet
, vol.6
, pp. 555-562
-
-
Ross, M.E.1
Allen, K.M.2
Srivastava, A.K.3
Featherstone, T.4
Gleeson, J.G.5
Hirsch, B.6
Harding, B.N.7
Andermann, E.8
Abdullah, R.9
Berg, M.10
Czapansky-Bielman, D.11
Flanders, D.J.12
Guerrini, R.13
Motte, J.14
Mira, A.P.15
Scheffer, I.16
Berkovic, S.17
Scaravilli, F.18
King, R.A.19
Ledbetter, D.H.20
Schlessinger, D.21
Dobyns, W.B.22
Walsh, C.A.23
more..
-
128
-
-
16944364802
-
Spectrum of clinical features associated with interstitial chromosome 22qll deletions: A European collaborative study
-
(1997)
J Med Genet
, vol.34
, pp. 798-804
-
-
Ryan, A.K.1
Goodship, J.A.2
Wilson, D.I.3
Philip, N.4
Levy, A.5
Seidel, H.6
Schuffenhauer, S.7
Oechsler, H.8
Belohradsky, B.9
Prieur, M.10
Aurias, A.11
Raymond, F.L.12
Clayton-Smith, J.13
Hatchwell, E.14
McKeown, C.15
Beemer, F.A.16
Dallapiccola, B.17
Novelli, G.18
Hurst, J.A.19
Ignatius, J.20
Green, A.J.21
Winter, R.M.22
Brueton, L.23
Brondum-Nielsen, K.24
Scambler, P.J.25
more..
-
131
-
-
0033572772
-
Analysis of lissencephaly-causing LIS1 mutations
-
(1999)
Eur J Biochem
, vol.266
, pp. 1011-1020
-
-
Sapir, T.1
Eisensrein, M.2
Burgess, H.A.3
Horesh, D.4
Cahana, A.5
Aoki, J.6
Hattori, M.7
Arai, H.8
Inoue, K.9
Reiner, O.10
-
132
-
-
0034642293
-
Neuronal expression of the fukutin gene
-
(2000)
Hum Mol Genet
, vol.9
, pp. 3083-3090
-
-
Sasaki, J.1
Ishikawa, K.2
Kobayashi, K.3
Kondo-lida, E.4
Fukayama, M.5
Mizusawa, H.6
Takashima, S.7
Sakakihara, Y.8
Nakamura, Y.9
Toda, T.10
-
134
-
-
0033362230
-
Learning from the slime mold: Dictyostelium and human disease
-
(1999)
Am J Hum Genet
, vol.65
, pp. 25-30
-
-
Saxe, C.L.1
-
137
-
-
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
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1327-1332
-
-
Sossey-Alaoui, K.1
Hartung, A.J.2
Guerrini, R.3
Manchester, D.K.4
Posar, A.5
Puche-Mira, A.6
Andermann, E.7
Dobyns, W.B.8
Srivastava, A.K.9
-
141
-
-
0033003134
-
Reeler/ Disabled-like disruption of neuronal migration in knockout mice lacking the VLDL receptor and ApoE receptor 2
-
(1999)
Cell
, vol.97
, pp. 689-701
-
-
Trommsdorff, M.1
Gotthardt, M.2
Hiesberger, T.3
Shelton, J.4
Stockinger, W.5
Nimpf, J.6
Hammer, R.E.7
Richardson, J.A.8
Herz, J.9
-
144
-
-
0030879277
-
Identification of the tuberous sclerosis gene TSCI on chromosome 9q34
-
(1997)
Science
, vol.277
, pp. 805-808
-
-
Van Slegtenhorst, M.1
De Hoogt, R.2
Hermans, C.3
Nellist, M.4
Janssen, B.5
Verhoef, S.6
Lindhout, D.7
Van den Ouweland, A.8
Halley, D.9
Young, J.10
Burley, M.11
Jeremiah, S.12
Woodward, K.13
Nahmias, J.14
Fox, M.15
Ekong, R.16
Osborne, J.17
Wolfe, J.18
Povey, S.19
Snell, R.G.20
Cheadle, J.P.21
Jones, A.C.22
Tachataki, M.23
Ravine, D.24
Sampson, J.R.25
Reeve, M.P.26
Richardson, P.27
Wilmer, F.28
Munro, C.29
Hawkins, T.L.30
Sepp, T.31
Johari, B.32
Ali, M.33
Ward, S.34
Green, A.J.35
Yates Kwiatkowska, J.J.R.36
Henske, E.P.M.37
Short, M.P.38
Haines, J.H.39
Jozwiak, S.40
Kwiatkowski, D.J.41
more..
-
145
-
-
7144255533
-
Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1053-1057
-
-
Van Slegtenhorst, M.1
Nellist, M.2
Nagelkerken, B.3
Cheadle, J.4
Snell, R.5
Van den Ouweland, A.6
Reuser, A.7
Sampson, J.8
Halley, D.9
Van der Sluijs, P.10
-
146
-
-
0032913859
-
Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhood
-
(1999)
Eur J Pediatr
, vol.158
, pp. 284-287
-
-
Verhoef, S.1
Van Diemen-Steenvoorde, R.2
Akkersdij, W.L.3
Bax, N.M.A.4
Ariyurek, Y.5
Hermans, C.J.6
Van Nieuwenhuizen, O.7
Nikkels, P.G.J.8
Lindhout, D.9
Halley, D.J.J.10
Lips, K.11
Van den Ouweland, A.M.W.12
-
147
-
-
0033136701
-
Genetic malformations of the human cerebral cortex
-
(1999)
Neuron
, vol.23
, pp. 19-29
-
-
Walsh, C.A.1
|