-
1
-
-
0242422459
-
-
Japanese source
-
-
-
-
2
-
-
0033609907
-
Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q
-
Cody JD, Ghidoni PD, DuPont BR, et al. Congenital anomalies and anthropometry of 42 individuals with deletions of chromosome 18q. Am J Med Genet 1999; 85:455-62.
-
(1999)
Am J Med Genet
, vol.85
, pp. 455-462
-
-
Cody, J.D.1
Ghidoni, P.D.2
DuPont, B.R.3
-
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. Magnetic resonance imaging demonstrates incomplete myelination in 18q-syndrome: evidence for myelin basic protein haploinsufficiency. Am J Med Genet 1997;74:422-31.
-
(1997)
Am J Med Genet
, vol.74
, pp. 422-431
-
-
Gay, C.T.1
Hardies, L.J.2
Rauch, R.A.3
-
4
-
-
0028871377
-
Analysis of clinical variation seen in patients with 18q terminal deletions
-
Strathdee G, Zackai EH, Shapiro R, Kamholz J, Overhauser J. Analysis of clinical variation seen in patients with 18q terminal deletions. Am J Med Genet 1995;59:476-83.
-
(1995)
Am J Med Genet
, vol.59
, pp. 476-483
-
-
Strathdee, G.1
Zackai, E.H.2
Shapiro, R.3
Kamholz, J.4
Overhauser, J.5
-
5
-
-
0027422825
-
Molecular analysis of the 18q-syndrome-and correlation with phenotype
-
Kline AD, White ME, Wapner R, et al. Molecular analysis of the 18q-syndrome-and correlation with phenotype. Am J Hum Genet 1993;52:895-906.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 895-906
-
-
Kline, A.D.1
White, M.E.2
Wapner, R.3
-
6
-
-
0034040115
-
Concepts of myelin and myelination in neuroradiology
-
Barkovich AJ. Concepts of myelin and myelination in neuroradiology. AJNR Am J Neuroradiol 2000;21: 1099-109.
-
(2000)
AJNR Am J Neuroradiol
, vol.21
, pp. 1099-1109
-
-
Barkovich, A.J.1
-
7
-
-
0026601113
-
Morphometric analysis of normal, mutant, and transgenic CNS: Correlation of myelin basic protein expression to myelinogenesis
-
Shine HD, Readhead C, Popko B, Hood L, Sidman RL. Morphometric analysis of normal, mutant, and transgenic CNS: correlation of myelin basic protein expression to myelinogenesis. J Neurochem 1992;58:342-9.
-
(1992)
J Neurochem
, vol.58
, pp. 342-349
-
-
Shine, H.D.1
Readhead, C.2
Popko, B.3
Hood, L.4
Sidman, R.L.5
-
8
-
-
0034985911
-
Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31
-
Baulac S, Picard F, Hemlan A, et al. Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31. Ann Neurol 2001;49: 786-92.
-
(2001)
Ann Neurol
, vol.49
, pp. 786-792
-
-
Baulac, S.1
Picard, F.2
Hemlan, A.3
-
9
-
-
0036123516
-
Chromosomal abnormalities and epilepsy: A review for clinicians and gene hunters
-
Singh R, Gardner RJM, Crossland KM, Scheffer IE, Berkovic SF. Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters. Epilepsia 2002;43:127-40.
-
(2002)
Epilepsia
, vol.43
, pp. 127-140
-
-
Singh, R.1
Gardner, R.J.M.2
Crossland, K.M.3
Scheffer, I.E.4
Berkovic, S.F.5
-
10
-
-
0033869328
-
Autonomic seizures versus syncope in 18q-deletion syndrome: A case report
-
Sturm K, Knakc S, Schomburg U, et al. Autonomic seizures versus syncope in 18q-deletion syndrome: a case report. Epilepsia 2000;41:1039-43.
-
(2000)
Epilepsia
, vol.41
, pp. 1039-1043
-
-
Sturm, K.1
Knakc, S.2
Schomburg, U.3
-
11
-
-
0026742086
-
Monosomy 18q12.1 → 21.1: A recognizable aneuploidy syndrome? Report of a patient and review of the literature
-
Krasikov N, Thompson K, Sekhon GS. Monosomy 18q12.1 → 21.1: a recognizable aneuploidy syndrome? Report of a patient and review of the literature. Am J Med Genet 1992;43:531-4.
-
(1992)
Am J Med Genet
, vol.43
, pp. 531-534
-
-
Krasikov, N.1
Thompson, K.2
Sekhon, G.S.3
-
12
-
-
0026710963
-
Recognizable behavioral and somatic phenotype in patients with proximal interstitial 18q deletion: Report on a new affected child and follow-up on the original reported familial cases
-
Chudley AE, Kovnats S, Ray M. Recognizable behavioral and somatic phenotype in patients with proximal interstitial 18q deletion: report on a new affected child and follow-up on the original reported familial cases. Am J Med Genet 1992;43:535-8.
-
(1992)
Am J Med Genet
, vol.43
, pp. 535-538
-
-
Chudley, A.E.1
Kovnats, S.2
Ray, M.3
-
13
-
-
0018630218
-
Syndromes associated with deletion of the long arm of chromosome 18 [del (18q)]
-
Wilson MG, Towner JW, Forsman I, Siris E. Syndromes associated with deletion of the long arm of chromosome 18 [del (18q)]. Am J Med Genet 1979;3:155-74.
-
(1979)
Am J Med Genet
, vol.3
, pp. 155-174
-
-
Wilson, M.G.1
Towner, J.W.2
Forsman, I.3
Siris, E.4
-
14
-
-
0033590673
-
Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3)
-
Gustavsson P, Kimber E, Wahlstrom J, Anneren G. Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3). Am J Med Genet 1999;82:348-51.
-
(1999)
Am J Med Genet
, vol.82
, pp. 348-351
-
-
Gustavsson, P.1
Kimber, E.2
Wahlstrom, J.3
Anneren, G.4
-
15
-
-
0027414162
-
18q-mosaicism niosaicisin associated with Rett syndrome phenotype
-
Gordon K, Siu VM, Sergovich F, Jung J. 18q-mosaicism niosaicisin associated with Rett syndrome phenotype. Am J Med Genet 1993;46:142-4.
-
(1993)
Am J Med Genet
, vol.46
, pp. 142-144
-
-
Gordon, K.1
Siu, V.M.2
Sergovich, F.3
Jung, J.4
|