-
1
-
-
0033752767
-
Adult-onset leukodystrophies
-
Baumann N, Turpin J-C (2000) Adult-onset leukodystrophies. J Neurol 247:751-759
-
(2000)
J Neurol
, vol.247
, pp. 751-759
-
-
Baumann, N.1
Turpin, J.-C.2
-
3
-
-
0030816598
-
Magnetic resonance imaging demonstrates incomplete myelination in 18q-syndrome: Evidence for myelin basic protein haploinsufficiency
-
Gay CT, Hardies LJ, Rauch RA et al. (1997) Magnetic resonance imaging demonstrates incomplete myelination in 18q-syndrome: evidence for myelin basic protein haploinsufficiency. Am J Med Genet 74:422-431
-
(1997)
Am J Med Genet
, vol.74
, pp. 422-431
-
-
Gay, C.T.1
Hardies, L.J.2
Rauch, R.A.3
-
4
-
-
0242642792
-
Intractable epilepsy (apneic seizure) in an infant with 18q deletion syndrome
-
Kumada K, Ito M, Miyajima T, Fujii T, Okuno T, Kumakura A (2003) Intractable epilepsy (apneic seizure) in an infant with 18q deletion syndrome (in Japanese). No To Hattatsu 35:521-526
-
(2003)
No to Hattatsu
, vol.35
, pp. 521-526
-
-
Kumada, K.1
Ito, M.2
Miyajima, T.3
Fujii, T.4
Okuno, T.5
Kumakura, A.6
-
5
-
-
0141507085
-
18q-syndrome: Brain MRI shows poor differentiation of gray and white matter on T2-weighted images
-
Linnankivi TT, Autti TH, Pihko SH, et al. (2003) 18q-syndrome: brain MRI shows poor differentiation of gray and white matter on T2-weighted images. J Magn Reson Imaging 18:414-419
-
(2003)
J Magn Reson Imaging
, vol.18
, pp. 414-419
-
-
Linnankivi, T.T.1
Autti, T.H.2
Pihko, S.H.3
-
7
-
-
0036123516
-
Chromosomal abnormalities and epilepsy: A review for clinicians and gene hunters
-
Singh R, McKinlay Gardner RJ, Crossland KM, Scheffer IE, Berkovic SF (2002) Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters. Epilepsia 43:127-140
-
(2002)
Epilepsia
, vol.43
, pp. 127-140
-
-
Singh, R.1
McKinlay Gardner, R.J.2
Crossland, K.M.3
Scheffer, I.E.4
Berkovic, S.F.5
-
8
-
-
0842313067
-
Septo-optic dysplasia and dentato-olivary dysplasia in a case of 18q deletion/3p trisomy
-
Singh V, Boesel CP, Baker P (2004) Septo-optic dysplasia and dentato-olivary dysplasia in a case of 18q deletion/3p trisomy. Clin Neuropathol 23:28-33
-
(2004)
Clin Neuropathol
, vol.23
, pp. 28-33
-
-
Singh, V.1
Boesel, C.P.2
Baker, P.3
-
9
-
-
12744261060
-
Autonomic seizures in 18q-syndrome
-
Stephenson JBP (2005) Autonomic seizures in 18q-syndrome. Brain Dev 27:125-126
-
(2005)
Brain Dev
, vol.27
, pp. 125-126
-
-
Stephenson, J.B.P.1
-
10
-
-
0033869328
-
Autonomic seizures versus syncope in 18q-deletion syndrome: A case report
-
Sturm K, Knake S, Schomburg U, et al. (2000) Autonomic seizures versus syncope in 18q-deletion syndrome: a case report. Epilepsia 41:1039-1043
-
(2000)
Epilepsia
, vol.41
, pp. 1039-1043
-
-
Sturm, K.1
Knake, S.2
Schomburg, U.3
-
11
-
-
2942724715
-
Benign focal epilepsy with onset in infancy in a patient with 18q-syndrome
-
Verrolti A Trotta D, Salladini C, di Corcia G, Chiarelli F (2004) Benign focal epilepsy with onset in infancy in a patient with 18q-syndrome. Childs Nerv Syst 20:362-365
-
(2004)
Childs Nerv Syst
, vol.20
, pp. 362-365
-
-
Verrolti, A.1
Trotta, D.2
Salladini, C.3
Di Corcia, G.4
Chiarelli, F.5
-
13
-
-
0014974374
-
Clinical and chromosomal studies of the 18q-syndrome
-
Wertelecki W, Gerald PS (1971) Clinical and chromosomal studies of the 18q-syndrome. J Pediatr 78:44-52
-
(1971)
J Pediatr
, vol.78
, pp. 44-52
-
-
Wertelecki, W.1
Gerald, P.S.2
-
14
-
-
0018630218
-
Syndromes associated with deletion of the long arm of chromosome 18 (del (18q))
-
Wilson MG, Towner JW, Forsman I, Siris E (1979) Syndromes associated with deletion of the long arm of chromosome 18 (del (18q)). Am J Med Genet 3:155-174
-
(1979)
Am J Med Genet
, vol.3
, pp. 155-174
-
-
Wilson, M.G.1
Towner, J.W.2
Forsman, I.3
Siris, E.4
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