-
1
-
-
0019850335
-
Kabuki make-up syndrome: A syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency
-
Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, 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
-
-
0023696864
-
Kabuki make-up (Niikawa-Kuroki) syndrome: A study of 62 patients
-
Niikawa N, Kuroki Y, Kajii T, Matsuura N, Ishikiriyama S, Tonoki H, Ishikawa N, Yamada Y, Fujita M, Umemoto H, et al. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. Am J Med Genet 1988: 31: 565-589.
-
(1988)
Am J Med Genet
, vol.31
, pp. 565-589
-
-
Niikawa, N.1
Kuroki, Y.2
Kajii, T.3
Matsuura, N.4
Ishikiriyama, S.5
Tonoki, H.6
Ishikawa, N.7
Yamada, Y.8
Fujita, M.9
Umemoto, H.10
-
4
-
-
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, Gross-Kieselstein E, Hosenfeld D, Moncla A, Muller D, Porteous M, Santos H, Cordeiro I, Selicorni A, Silengo M, Tariveridian G. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases. Clin Dysmorph 1992: 1: 63-77.
-
(1992)
Clin Dysmorph
, vol.1
, pp. 63-77
-
-
Philip, N.1
Meinecke, P.2
David, A.3
Dean, J.4
Ayme, S.5
Clark, R.6
Gross-Kieselstein, E.7
Hosenfeld, D.8
Moncla, A.9
Muller, D.10
Porteous, M.11
Santos, H.12
Cordeiro, I.13
Selicorni, A.14
Silengo, M.15
Tariveridian, G.16
-
5
-
-
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, Tinschert S, Konig R, Philip N, Rizzo R, Schrander J, Pfeiffer L, Maat-Kievit A, van der Burgt I, van Essen T, Latta E, Hiling U, Verloes A, Journel H, Fryns JP. 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
Tinschert, S.5
Konig, R.6
Philip, N.7
Rizzo, R.8
Schrander, J.9
Pfeiffer, L.10
Maat-Kievit, A.11
Van Der Burgt, I.12
Van Essen, T.13
Latta, E.14
Hiling, U.15
Verloes, A.16
Journel, H.17
Fryns, J.P.18
-
6
-
-
0028903780
-
Kabuki make-up (Niikawa-Kuroki) syndrome in the Byelorussian register of congenital malformations: The new observations
-
Ilyina H, Lurie I, Numtchik I, Amoashy D, Stephanenko G, Fedotov V, Kostjuk A, Kabuki make-up (Niikawa-Kuroki) syndrome in the Byelorussian register of congenital malformations: the new observations. Am J Med Genet 1995: 56: 127-131.
-
(1995)
Am J Med Genet
, vol.56
, pp. 127-131
-
-
Ilyina, H.1
Lurie, I.2
Numtchik, I.3
Amoashy, D.4
Stephanenko, G.5
Fedotov, V.6
Kostjuk, A.7
-
7
-
-
2642642441
-
Coarctation of the aorta in Kabuki syndrome
-
Hughes HE, Davies SJ. Coarctation of the aorta in Kabuki syndrome. Am J Hum Genet 1993: [Suppl.] 53: 54.
-
(1993)
Am J Hum Genet
, vol.53
, Issue.SUPPL.
, pp. 54
-
-
Hughes, H.E.1
Davies, S.J.2
-
8
-
-
0028814317
-
Kabuki syndrome: Underdiagnosed recognizable pattern in cleft palate patients
-
Burke LW, Jones MC. Kabuki syndrome: underdiagnosed recognizable pattern in cleft palate patients. Cleft Palate Craniofac J 1995: 32: 77-84.
-
(1995)
Cleft Palate Craniofac J
, vol.32
, pp. 77-84
-
-
Burke, L.W.1
Jones, M.C.2
-
9
-
-
2642673914
-
Kabuki make up syndrome: Extending the phenotype to include immunological disease, and persistent hypoglycemia
-
Bay CA, Wegner K, Mang J, Barudi M, Ayas M, Saalouke M. Kabuki make up syndrome: extending the phenotype to include immunological disease, and persistent hypoglycemia. Proc Greewood Genet Center 1994: 13: 92-93.
-
(1994)
Proc Greewood Genet Center
, vol.13
, pp. 92-93
-
-
Bay, C.A.1
Wegner, K.2
Mang, J.3
Barudi, M.4
Ayas, M.5
Saalouke, M.6
-
10
-
-
0025185199
-
The Niikawa-Kuroki (Kabuki make-up) syndrome in a Moslem Arab child
-
Gillis R, Klar A, Gross-Kieselstein E. The Niikawa-Kuroki (Kabuki make-up) syndrome in a Moslem Arab child. Clin Genet 1990: 38: 348-381.
-
(1990)
Clin Genet
, vol.38
, pp. 348-381
-
-
Gillis, R.1
Klar, A.2
Gross-Kieselstein, E.3
-
12
-
-
0025347756
-
Deficiency of CD4 + CD45R + T lymphocytes in common variable immunodeficiency
-
Lebranchu Y, Thibault G, Degenne D, Bardos P. Deficiency of CD4 + CD45R + T lymphocytes in common variable immunodeficiency. N Engl J Med 1990: 323: 276-277.
-
(1990)
N Engl J Med
, vol.323
, pp. 276-277
-
-
Lebranchu, Y.1
Thibault, G.2
Degenne, D.3
Bardos, P.4
-
13
-
-
0029858527
-
Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q11.2
-
Li M, Zackai EH, Niikawa N, Kaplan P, Driscoll DA. Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q11.2. Am J Med Genet 1996: 65: 101-103.
-
(1996)
Am J Med Genet
, vol.65
, pp. 101-103
-
-
Li, M.1
Zackai, E.H.2
Niikawa, N.3
Kaplan, P.4
Driscoll, D.A.5
-
14
-
-
0029925662
-
Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome
-
Fryburg JS, Lin KY, Golden WL. Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome. Am J Med Genet 1996: 62: 272-275.
-
(1996)
Am J Med Genet
, vol.62
, pp. 272-275
-
-
Fryburg, J.S.1
Lin, K.Y.2
Golden, W.L.3
|