-
1
-
-
0025086847
-
A distinctive triad of malformations of the central nervous system in the Meckel-Gruber syndrome
-
Ahdab-Barmada M, Classen D (1990) A distinctive triad of malformations of the central nervous system in the Meckel-Gruber syndrome. J Neuropathol Exp Neurol 49:610-620
-
(1990)
J. Neuropathol. Exp. Neurol.
, vol.49
, pp. 610-620
-
-
Ahdab-Barmada, M.1
Classen, D.2
-
2
-
-
0034703283
-
Interaction between LIS1 and doublecortin, two lissencephaly gene products
-
Caspi M, Atlas R, Kantor A, Sapir T, Reiner O (2000) Interaction between LIS1 and doublecortin, two lissencephaly gene products. Hum Mol Genet 9:2205-2213
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 2205-2213
-
-
Caspi, M.1
Atlas, R.2
Kantor, A.3
Sapir, T.4
Reiner, O.5
-
3
-
-
0026489538
-
Perspectives on holoprosencephaly. II. Central nervous system, craniofacial anatomy, syndrome commentary, diagnostic approach, and experimental studies
-
Cohen MM Jr, Sulik KK (1992) Perspectives on holoprosencephaly. II. Central nervous system, craniofacial anatomy, syndrome commentary, diagnostic approach, and experimental studies. J Craniofacial Genet Dev Biol 12:196-244
-
(1992)
J. Craniofacial Genet. Dev. Biol.
, vol.12
, pp. 196-244
-
-
Cohen M.M., Jr.1
Sulik, K.K.2
-
4
-
-
0035942359
-
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease
-
Cormand B, Pihko H, Bayes M, Valanne L, Santavuori P, Talim B, Gershoni-Baruch R, Ahmad A, van Bokhoven H, Brunner HG, Voit T, Topaloglu H, Dobyns WB, Lehesjoki AE (2001) Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. Neurology 56:1059-1069
-
(2001)
Neurology
, vol.56
, pp. 1059-1069
-
-
Cormand, B.1
Pihko, H.2
Bayes, M.3
Valanne, L.4
Santavuori, P.5
Talim, B.6
Gershoni-Baruch, R.7
Ahmad, A.8
van Bokhoven, H.9
Brunner, H.G.10
Voit, T.11
Topaloglu, H.12
Dobyns, W.B.13
Lehesjoki, A.E.14
-
5
-
-
0029979155
-
Brainstem tegmental necrosis and olivary hypoplasia: A lethal entity associated with congenital apnea
-
Cortez SC, Kinney HC (1996) Brainstem tegmental necrosis and olivary hypoplasia: a lethal entity associated with congenital apnea. J Neuropathol Exp Neurol 55:841-849
-
(1996)
J. Neuropathol. Exp. Neurol.
, vol.55
, pp. 841-849
-
-
Cortez, S.C.1
Kinney, H.C.2
-
6
-
-
0036807228
-
Ultrasonographic and pathological correlation in a fetal intracranial cyst: A case of "diencephalo-synapsis"
-
De France I, Saada P, Jouannic JM, Tantau J, Martinovic J, Encha-Razavi F (2002) Ultrasonographic and pathological correlation in a fetal intracranial cyst: a case of "diencephalo-synapsis" J Gynecol Obstet Biol Reprod (Paris) 31:600-603
-
(2002)
J. Gynecol. Obstet. Biol. Reprod. (Paris)
, vol.31
, pp. 600-603
-
-
De France, I.1
Saada, P.2
Jouannic, J.M.3
Tantau, J.4
Martinovic, J.5
Encha-Razavi, F.6
-
8
-
-
0021174658
-
Syndromes with lissencephaly. I. Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly
-
Dobyns WB, Stratton RF, Greenberg F (1984) Syndromes with lissencephaly. I. Miller-Dieker and Norman-Roberts syndromes and isolated lissencephaly. Am J Med Genet 18:509-526
-
(1984)
Am. J. Med. Genet.
, vol.18
, pp. 509-526
-
-
Dobyns, W.B.1
Stratton, R.F.2
Greenberg, F.3
-
9
-
-
0021972775
-
Syndromes with lissencephaly. II. Walker-Warburg and cerebro-oculomuscular syndromes and a new syndrome with type II lissencephaly
-
Dobyns WB, Kirkpatrick JB, Hittner HM, Roberts RM, Kretzer FL (1985) Syndromes with lissencephaly. II. Walker-Warburg and cerebro-oculomuscular syndromes and a new syndrome with type II lissencephaly. Am J Med Genet 22:157-195
-
(1985)
Am. J. Med. Genet.
, vol.22
, pp. 157-195
-
-
Dobyns, W.B.1
Kirkpatrick, J.B.2
Hittner, H.M.3
Roberts, R.M.4
Kretzer, F.L.5
-
11
-
-
0033595252
-
Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly
-
Dobyns WB, Truwit CL, Ross ME, Matsumoto N, Pilz DT, Ledbetter DH, Gleeson JG, Walsh CA, Barkovich AJ (1999) Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. Neurology 53:270-277
-
(1999)
Neurology
, vol.53
, pp. 270-277
-
-
Dobyns, W.B.1
Truwit, C.L.2
Ross, M.E.3
Matsumoto, N.4
Pilz, D.T.5
Ledbetter, D.H.6
Gleeson, J.G.7
Walsh, C.A.8
Barkovich, A.J.9
-
12
-
-
0002622020
-
Fetal neuropathology
-
Duckett S (ed) Williams and Wilkins, Baltimore
-
Encha-Razavi F (1995) Fetal neuropathology. In: Duckett S (ed) Pediatric neuropathology. Williams and Wilkins, Baltimore, pp 108-122
-
(1995)
Pediatric Neuropathology
, pp. 108-122
-
-
Encha-Razavi, F.1
-
13
-
-
2842566053
-
Lethal familial fetal akinesia sequence (FAS) with distinct neuropathological pattern: Type III lissencephaly syndrome
-
Encha-Razavi F, Larroche JC, Roume J, Gonzales M, Kondo HC, Mulliez N (1996) Lethal familial fetal akinesia sequence (FAS) with distinct neuropathological pattern: type III lissencephaly syndrome. Am J Med Genet 62:16-22
-
(1996)
Am. J. Med. Genet.
, vol.62
, pp. 16-22
-
-
Encha-Razavi, F.1
Larroche, J.C.2
Roume, J.3
Gonzales, M.4
Kondo, H.C.5
Mulliez, N.6
-
15
-
-
0031728633
-
Holoprosencephaly: A defect in brain patterning
-
Golden JA (1998) Holoprosencephaly: a defect in brain patterning. J Neuropathol Exp Neurol 57:991-999
-
(1998)
J. Neuropathol. Exp. Neurol.
, vol.57
, pp. 991-999
-
-
Golden, J.A.1
-
17
-
-
0019210894
-
Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly - A new syndrome? I. Clinical, causal, and pathogenetic considerations
-
Hall JG, Pallister PD, Clarren SK, Beckwith JB, Wiglesworth FW, Fraser FC, Cho S, Benke PJ, Reed SD (1980) Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly-a new syndrome? I. Clinical, causal, and pathogenetic considerations. Am J Med Genet 7:47-74
-
(1980)
Am. J. Med. Genet.
, vol.7
, pp. 47-74
-
-
Hall, J.G.1
Pallister, P.D.2
Clarren, S.K.3
Beckwith, J.B.4
Wiglesworth, F.W.5
Fraser, F.C.6
Cho, S.7
Benke, P.J.8
Reed, S.D.9
-
18
-
-
0031881598
-
The neuropathology of alcohol-specific brain damage, or does alcohol damage the brain?
-
Harper C (1998) The neuropathology of alcohol-specific brain damage, or does alcohol damage the brain? J Neuropathol Exp Neurol 57:101-110
-
(1998)
J. Neuropathol. Exp. Neurol.
, vol.57
, pp. 101-110
-
-
Harper, C.1
-
19
-
-
0036210430
-
Arthrogryposis multiplex congenital and cerebellopontine ischemic lesions in sibs: Recurrence of prenatal disruptive brain lesions with different patterns of expression?
-
Mahieu-Caputo D, Salomon LJ, Dommergues M, Aubry MC, Sonigo P, Martinovic Y, Le Merrer M, Dumez Y, Encha-Razavi F (2002) Arthrogryposis multiplex congenital and cerebellopontine ischemic lesions in sibs: recurrence of prenatal disruptive brain lesions with different patterns of expression? Fetal Diagn Ther 17:153-156
-
(2002)
Fetal Diagn. Ther.
, vol.17
, pp. 153-156
-
-
Mahieu-Caputo, D.1
Salomon, L.J.2
Dommergues, M.3
Aubry, M.C.4
Sonigo, P.5
Martinovic, Y.6
Le Merrer, M.7
Dumez, Y.8
Encha-Razavi, F.9
-
20
-
-
0034939629
-
Septo-optic dysplasia as a manifestation of valproic acid embryopathy
-
McMahon CL, Braddock SR (2001) Septo-optic dysplasia as a manifestation of valproic acid embryopathy. Teratology 64:83-86
-
(2001)
Teratology
, vol.64
, pp. 83-86
-
-
McMahon, C.L.1
Braddock, S.R.2
-
21
-
-
0020066915
-
Agenesis of the vermis with fusion of the cerebellar hemispheres, septo-optic dysplasia and associated anomalies. Report of a case
-
Michaud J, Mizrahi EM, Urich H (1982) Agenesis of the vermis with fusion of the cerebellar hemispheres, septo-optic dysplasia and associated anomalies. Report of a case. Acta Neuropathol (Berl) 56:161-166
-
(1982)
Acta Neuropathol. (Berl)
, vol.56
, pp. 161-166
-
-
Michaud, J.1
Mizrahi, E.M.2
Urich, H.3
-
22
-
-
0034107360
-
Genetics of ventral forebrain development and holoprosencephaly
-
Muenke M, Beachy PH (2000) Genetics of ventral forebrain development and holoprosencephaly. Curr Opin Genet Dev 10:262-269
-
(2000)
Curr. Opin. Genet. Dev.
, vol.10
, pp. 262-269
-
-
Muenke, M.1
Beachy, P.H.2
-
23
-
-
0004042407
-
Congenital malformations of the brain. Pathological, embryological, radiological and genetic aspects
-
Oxford University Press, New York
-
Norman MG, McGillivray BC, Kalousek DK, Hill A, Poskitt KJ (1995) Congenital malformations of the brain. Pathological, embryological, radiological and genetic aspects. Oxford University Press, New York
-
(1995)
-
-
Norman, M.G.1
McGillivray, B.C.2
Kalousek, D.K.3
Hill, A.4
Poskitt, K.J.5
-
24
-
-
0036135841
-
Neuronal migration, cerebral cortical development and cerebral cortical anomalies
-
Pilz D, Stoodley N, Golden JA (2002) Neuronal migration, cerebral cortical development and cerebral cortical anomalies. J Neuropathol Exp Neurol 61:1-11
-
(2002)
J. Neuropathol. Exp. Neurol.
, vol.61
, pp. 1-11
-
-
Pilz, D.1
Stoodley, N.2
Golden, J.A.3
-
25
-
-
0030330152
-
A locus-specific mutation database for the neural cell adhesion molecule L1CAM (Xq28)
-
Van Camp G, Frasen E, Vits L, Raes G, Willems PJ (1996) A locus-specific mutation database for the neural cell adhesion molecule L1CAM (Xq28). Hum Mutat 8:391
-
(1996)
Hum. Mutat.
, vol.8
, pp. 391
-
-
Van Camp, G.1
Frasen, E.2
Vits, L.3
Raes, G.4
Willems, P.J.5
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