Indexed keywords
ANTICONVULSIVE AGENT;
CARBAMAZEPINE;
PHENOBARBITAL;
VALPROIC ACID;
ADOLESCENT;
ALOPECIA;
ARTICLE;
BRAIN RADIOGRAPHY;
CASE REPORT;
CHROMOSOMAL LOCALIZATION;
CHROMOSOME 14;
CHROMOSOME MOSAICISM;
CYANOSIS;
EPILEPSY;
FACE DYSMORPHIA;
FOCAL EPILEPSY;
HUMAN;
INFANT;
KARYOTYPE 46,XY;
MALE;
MENTAL DEFICIENCY;
MICROCEPHALY;
MONOSOMY;
MOTOR RETARDATION;
OCCIPITAL LOBE;
PRIORITY JOURNAL;
RESPIRATORY ARREST;
RING CHROMOSOME;
SPIKE WAVE;
ADOLESCENT;
CHROMOSOMES, HUMAN, PAIR 14;
ELECTROENCEPHALOGRAPHY;
EPILEPSIES, PARTIAL;
HUMANS;
INFANT;
KARYOTYPING;
MALE;
RING CHROMOSOMES;
1
0019834614
Ring chromosome 14: A distinct clinical entity
Schmidt R, Eviatar L, Nitowsky HM, et al. Ring chromosome 14: a distinct clinical entity. J Med Genet 1981;18:304-7.
(1981)
J Med Genet
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Schmidt, R.1
Eviatar, L.2
Nitowsky, H.M.3
2
0020631156
Ring 14 syndrome with decreased bone mineral content in two pubertal girls
Ieshima A, Takeshita K, Yamamoto K. Ring 14 syndrome with decreased bone mineral content in two pubertal girls. Jpn J Hum Genet 1983;28:35-43.
(1983)
Jpn J Hum Genet
, vol.28
, pp. 35-43
Ieshima, A.1
Takeshita, K.2
Yamamoto, K.3
3
0025368059
Transmission of ring 14 chromosome from mother to sons
Matalon R, Supple P, Wyandt H, et al. Transmission of ring 14 chromosome from mother to sons. Am J Med Genet 1990;36:381-5.
(1990)
Am J Med Genet
, vol.36
, pp. 381-385
Matalon, R.1
Supple, P.2
Wyandt, H.3
4
0026009081
Ring chromosome 14 syndrome: Report of two cases, including extended evaluation of a previously reported patient and review
Zelante L, Torricelli F, Calvano S, et al. Ring chromosome 14 syndrome: report of two cases, including extended evaluation of a previously reported patient and review. Ann Genet 1991;34:93-7.
(1991)
Ann Genet
, vol.34
, pp. 93-97
Zelante, L.1
Torricelli, F.2
Calvano, S.3
5
0026664906
Ring 14 chromosome with complex partial seizures: A case report
Shirasaka Y, Ito M, Okuno T, et al. Ring 14 chromosome with complex partial seizures: a case report. Brain Dev 1992;14:257-60.
(1992)
Brain Dev
, vol.14
, pp. 257-260
Shirasaka, Y.1
Ito, M.2
Okuno, T.3
6
0032958516
Ring chromosome 14 complicated with complex partial seizures and hypoplastic corpus callosum
Ono J, Nishiike K, Imai K, et al. Ring chromosome 14 complicated with complex partial seizures and hypoplastic corpus callosum. Pediatr Neurol 1999;20:70-2.
(1999)
Pediatr Neurol
, vol.20
, pp. 70-72
Ono, J.1
Nishiike, K.2
Imai, K.3
8
0023811014
Retinal/macular pigmentation in conjunction with ring 14 chromosome
Howard PJ, Clark D, Dearlove J. Retinal/macular pigmentation in conjunction with ring 14 chromosome. Hum Genet 1988;80:140-2.
(1988)
Hum Genet
, vol.80
, pp. 140-142
Howard, P.J.1
Clark, D.2
Dearlove, J.3
9
0019442464
Ring 14 chromosome: Association with seizures
Lippe BM, Sparkes RS. Ring 14 chromosome: association with seizures. Am J Med Genet 1981;9:301-5.
(1981)
Am J Med Genet
, vol.9
, pp. 301-305
Lippe, B.M.1
Sparkes, R.S.2
10
0020953743
Ring chromosome 14: A distinct clinical entity
Fryns JP, Kubien E, Kleczkowska A, et al. Ring chromosome 14: a distinct clinical entity. J Genet Hum 1983;31:367-75.
(1983)
J Genet Hum
, vol.31
, pp. 367-375
Fryns, J.P.1
Kubien, E.2
Kleczkowska, A.3
11
0036605106
Further delineation of the chromosome 14q terminal deletion syndrome
Van Karnebeek CDM, Quik S, Sluijter S, et al. Further delineation of the chromosome 14q terminal deletion syndrome. Am J Hum Genet 2002;110:65-72.
(2002)
Am J Hum Genet
, vol.110
, pp. 65-72
Van Karnebeek, C.D.M.1
Quik, S.2
Sluijter, S.3
12
0029049165
Molecular analysis redefines three human chromosome 14 deletions
Wintle RF, Costa T, Haslam RH, et al. Molecular analysis redefines three human chromosome 14 deletions. Hum Genet 1995;95:495500.
(1995)
Hum Genet
, vol.95
, pp. 495500
Wintle, R.F.1
Costa, T.2
Haslam, R.H.3