-
1
-
-
0019850335
-
Kabuki make-up syndrome: a syndrome with mental retardation, unusual faces, large and protruding ears, and postnatal growth deficiency
-
Niikawa N., Matsuura N., Fukushima Y., Ohsawa T., Kajii T. Kabuki make-up syndrome: a syndrome with mental retardation, unusual faces, large and protruding ears, and postnatal growth deficiency. J Pediatr 1981, 99:565-569.
-
(1981)
J Pediatr
, vol.99
, pp. 565-569
-
-
Niikawa, N.1
Matsuura, N.2
Fukushima, Y.3
Ohsawa, T.4
Kajii, T.5
-
2
-
-
0019837311
-
A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation
-
Kuroki Y., Suzuki Y., Chyo H., Hata A., Matsui I. A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pediatr 1981, 99:570-573.
-
(1981)
J Pediatr
, vol.99
, pp. 570-573
-
-
Kuroki, Y.1
Suzuki, Y.2
Chyo, H.3
Hata, A.4
Matsui, I.5
-
3
-
-
14044272145
-
Kabuki syndrome: a review
-
Adam M.P., Hudgins L. Kabuki syndrome: a review. Clin Genet 2005, 67:209-219.
-
(2005)
Clin Genet
, vol.67
, pp. 209-219
-
-
Adam, M.P.1
Hudgins, L.2
-
4
-
-
0030717474
-
Dominant inheritance of Kabuki make-up syndrome
-
Tsukahara M., Kuroki Y., Imaizumi K., Miyazawa Y., Matsuo K. Dominant inheritance of Kabuki make-up syndrome. Am J Med Genet 1997, 73:19-23.
-
(1997)
Am J Med Genet
, vol.73
, pp. 19-23
-
-
Tsukahara, M.1
Kuroki, Y.2
Imaizumi, K.3
Miyazawa, Y.4
Matsuo, K.5
-
5
-
-
0030561981
-
Inheritance in Kabuki make-up (Niikawa-Kuroki) syndrome
-
Kobayashi O., Sakuragawa N. Inheritance in Kabuki make-up (Niikawa-Kuroki) syndrome. Am J Med Genet 1996, 61:92-93.
-
(1996)
Am J Med Genet
, vol.61
, pp. 92-93
-
-
Kobayashi, O.1
Sakuragawa, N.2
-
6
-
-
0344308337
-
Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH
-
Milunsky J.M., Huang X.L. Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH. Clin Genet 2003, 64:509-516.
-
(2003)
Clin Genet
, vol.64
, pp. 509-516
-
-
Milunsky, J.M.1
Huang, X.L.2
-
7
-
-
34548851463
-
The C20orf 133 gene is disrupted in a patient with Kabuki syndrome
-
Maas N.M., Van de Putte T., Melotte C., Francis A., Schrander-Stumpel C., Sanlaville D., et al. The C20orf 133 gene is disrupted in a patient with Kabuki syndrome. J Med Genet 2007, 44:562-569.
-
(2007)
J Med Genet
, vol.44
, pp. 562-569
-
-
Maas, N.M.1
Van de Putte, T.2
Melotte, C.3
Francis, A.4
Schrander-Stumpel, C.5
Sanlaville, D.6
-
8
-
-
67649520260
-
Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome
-
Kuniba H., Yoshiura K.I., Kondoh T., Ohashi H., Kurosawa K., Tonoki H., et al. Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome. J Hum Genet 2009, 54:304-309.
-
(2009)
J Hum Genet
, vol.54
, pp. 304-309
-
-
Kuniba, H.1
Yoshiura, K.I.2
Kondoh, T.3
Ohashi, H.4
Kurosawa, K.5
Tonoki, H.6
-
9
-
-
0030868987
-
CNS malformation in a child with Kabuki (Niikawa-Kuroki) syndrome: report and review
-
Chu D., Finley S.C., Young D.W., Proud V.K. CNS malformation in a child with Kabuki (Niikawa-Kuroki) syndrome: report and review. Am J Med Genet 1997, 72:205-209.
-
(1997)
Am J Med Genet
, vol.72
, pp. 205-209
-
-
Chu, D.1
Finley, S.C.2
Young, D.W.3
Proud, V.K.4
-
10
-
-
0032802685
-
Epilepsy and polymicrogyria in Kabuki make-up (Niikawa-Kuroki) syndrome
-
Di Gennaro G., Condoluci C., Casali C., Ciccarelli O., Albertini G. Epilepsy and polymicrogyria in Kabuki make-up (Niikawa-Kuroki) syndrome. Pediatr Neurol 1999, 21:566-568.
-
(1999)
Pediatr Neurol
, vol.21
, pp. 566-568
-
-
Di Gennaro, G.1
Condoluci, C.2
Casali, C.3
Ciccarelli, O.4
Albertini, G.5
-
11
-
-
0026849459
-
Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases
-
Philip N., Meinecke P., David A., Dean J., Ayme S., Clark R., et al. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases. Clin Dysmorphol 1992, 1:63-77.
-
(1992)
Clin Dysmorphol
, vol.1
, pp. 63-77
-
-
Philip, N.1
Meinecke, P.2
David, A.3
Dean, J.4
Ayme, S.5
Clark, R.6
-
12
-
-
0028261004
-
The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients
-
Schrander-Stumpel C., Meinecke P., Wilson G., Gillessen Kaesbach G., Tinschrt S., Konig R., et al. The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients. Eur J Pediatr 1994, 153:438-445.
-
(1994)
Eur J Pediatr
, vol.153
, pp. 438-445
-
-
Schrander-Stumpel, C.1
Meinecke, P.2
Wilson, G.3
Gillessen Kaesbach, G.4
Tinschrt, S.5
Konig, R.6
-
13
-
-
0033504485
-
Phenotypic spectrum and management issues in Kabuki syndrome
-
Kawame H., Hannibal M.C., Hudgins L., Roberta A. Phenotypic spectrum and management issues in Kabuki syndrome. J Pediatr 1999, 134:480-485.
-
(1999)
J Pediatr
, vol.134
, pp. 480-485
-
-
Kawame, H.1
Hannibal, M.C.2
Hudgins, L.3
Roberta, A.4
-
14
-
-
0042884438
-
Favorable seizure outcome in Kabuki make-up syndrome associated with epilepsy
-
Ogawa A., Yasumoto S., Tomoda Y., Ohfu M., Mitsudome A., Kuroki Y. Favorable seizure outcome in Kabuki make-up syndrome associated with epilepsy. J Child Neurol 2003, 18:549-551.
-
(2003)
J Child Neurol
, vol.18
, pp. 549-551
-
-
Ogawa, A.1
Yasumoto, S.2
Tomoda, Y.3
Ohfu, M.4
Mitsudome, A.5
Kuroki, Y.6
-
16
-
-
0346500527
-
Temporo-occipital spikes: a typical EEG finding in Kabuki syndrome
-
Oksanen V.E., Arvio M.A., Peippo M.M., Valanne L.K., Sainio K.O. Temporo-occipital spikes: a typical EEG finding in Kabuki syndrome. Pediatr Neurol 2004, 30:67-70.
-
(2004)
Pediatr Neurol
, vol.30
, pp. 67-70
-
-
Oksanen, V.E.1
Arvio, M.A.2
Peippo, M.M.3
Valanne, L.K.4
Sainio, K.O.5
-
17
-
-
7044239233
-
Temporo-occipital spikes: are they so typical for Kabuki syndrome?
-
Di Gennaro G., Sebastiano F., Quarato P.P., Albertini G., Majolini L., Onorati P. Temporo-occipital spikes: are they so typical for Kabuki syndrome?. Pediatr Neurol 2004, 31:379.
-
(2004)
Pediatr Neurol
, vol.31
, pp. 379
-
-
Di Gennaro, G.1
Sebastiano, F.2
Quarato, P.P.3
Albertini, G.4
Majolini, L.5
Onorati, P.6
-
18
-
-
7044239233
-
Temporo-occipital spikes: are they so typical for Kabuki syndrome? Author reply
-
Oksanen V.E., Arvio M.A., Peippo M.M., Valanne L.K., Sainio K.O. Temporo-occipital spikes: are they so typical for Kabuki syndrome? Author reply. Pediatr Neurol 2004, 31:379-380.
-
(2004)
Pediatr Neurol
, vol.31
, pp. 379-380
-
-
Oksanen, V.E.1
Arvio, M.A.2
Peippo, M.M.3
Valanne, L.K.4
Sainio, K.O.5
-
19
-
-
34247637092
-
A case of Kabuki syndrome presenting West syndrome
-
Ito H., Mori K., Inoue N., Kagami S. A case of Kabuki syndrome presenting West syndrome. Brain Dev 2007, 29:380-382.
-
(2007)
Brain Dev
, vol.29
, pp. 380-382
-
-
Ito, H.1
Mori, K.2
Inoue, N.3
Kagami, S.4
-
20
-
-
0019509687
-
Proposal for revised clinical and electroencephalography classification of epileptic seizures. From the Commission on Classification and Terminology of International League against Epilepsy
-
Bancaud J., Henriksen O., Rubio-Donnadieu F., Masakatsu S., Dreifuss F.E., Penry K. Proposal for revised clinical and electroencephalography classification of epileptic seizures. From the Commission on Classification and Terminology of International League against Epilepsy. Epilepsia 1981, 22:489-501.
-
(1981)
Epilepsia
, vol.22
, pp. 489-501
-
-
Bancaud, J.1
Henriksen, O.2
Rubio-Donnadieu, F.3
Masakatsu, S.4
Dreifuss, F.E.5
Penry, K.6
-
21
-
-
0034957202
-
A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology
-
Engel J. A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology. Epilepsia 2001, 42:796-803.
-
(2001)
Epilepsia
, vol.42
, pp. 796-803
-
-
Engel, J.1
-
22
-
-
0032773639
-
Epilepsy and EEG findings in males with fragile X syndrome
-
Musumeci S.A., Hagerman R.J., Ferri R., Bosco P., Dalla Bernardina B., Tassinari C.A., et al. Epilepsy and EEG findings in males with fragile X syndrome. Epilepsia 1999, 40:1092-1099.
-
(1999)
Epilepsia
, vol.40
, pp. 1092-1099
-
-
Musumeci, S.A.1
Hagerman, R.J.2
Ferri, R.3
Bosco, P.4
Dalla Bernardina, B.5
Tassinari, C.A.6
-
23
-
-
0029844761
-
Children with benign focal sharp waves in the EEG developmental disorders and epilepsy
-
Doose H., Neubauer B., Carlsson G. Children with benign focal sharp waves in the EEG developmental disorders and epilepsy. Neuropediatrics 1996, 27:227-241.
-
(1996)
Neuropediatrics
, vol.27
, pp. 227-241
-
-
Doose, H.1
Neubauer, B.2
Carlsson, G.3
-
24
-
-
0034488516
-
The concept of hereditary impairment of brain maturation
-
Doose H., Neubauer B.A., Petersen B. The concept of hereditary impairment of brain maturation. Epileptic Disord 2000, 2(Suppl. 1):S45-S49.
-
(2000)
Epileptic Disord
, vol.2
, Issue.SUPPL. 1
-
-
Doose, H.1
Neubauer, B.A.2
Petersen, B.3
|