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KMS  -  Kabuki mental retardation syndrome

Homo sapiens

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  1. Kabuki make-up syndrome (Niikawa-Kuroki syndrome) associated with congenital heart disease. Ohdo, S., Madokoro, H., Sonoda, T., Nishiguchi, T., Kawaguchi, K., Hayakawa, K. J. Med. Genet. (1985) [Pubmed]
  2. Precocious puberty in Kabuki makeup syndrome. Kuroki, Y., Katsumata, N., Eguchi, T., Fukushima, Y., Suwa, S., Kajii, T. J. Pediatr. (1987) [Pubmed]
  3. Neonatal syndromes of polyendocrinopathy. Dotta, F., Vendrame, F. Endocrinol. Metab. Clin. North Am. (2002) [Pubmed]
  4. Congenital heart defects in Kabuki syndrome. Digilio, M.C., Marino, B., Toscano, A., Giannotti, A., Dallapiccola, B. Am. J. Med. Genet. (2001) [Pubmed]
  5. Biliary atresia in Kabuki syndrome. McGaughran, J.M., Donnai, D., Clayton-Smith, J. Am. J. Med. Genet. (2000) [Pubmed]
  6. Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort. Turner, C., Lachlan, K., Amerasinghe, N., Hodgkins, P., Maloney, V., Barber, J., Temple, I.K. Eur. J. Hum. Genet. (2005) [Pubmed]
  7. Intellectual abilities and adaptive behavior of children and adolescents with Kabuki syndrome: a preliminary study. Mervis, C.B., Becerra, A.M., Rowe, M.L., Hersh, J.H., Morris, C.A. Am. J. Med. Genet. A (2005) [Pubmed]
  8. Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13. Lynch, S.A., Ashcroft, K.A., Zwolinski, S., Clarke, C., Burn, J. J. Med. Genet. (1995) [Pubmed]
  9. Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome. Sanlaville, D., Genevieve, D., Bernardin, C., Amiel, J., Baumann, C., de Blois, M.C., Cormier-Daire, V., Gerard, B., Gerard, M., Le Merrer, M., Parent, P., Prieur, F., Prieur, M., Raoul, O., Toutain, A., Verloes, A., Viot, G., Romana, S., Munnich, A., Lyonnet, S., Vekemans, M., Turleau, C. Eur. J. Hum. Genet. (2005) [Pubmed]
  10. Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome. Schoumans, J., Nordgren, A., Ruivenkamp, C., Brøndum-Nielsen, K., Teh, B.T., Annéren, G., Holmberg, E., Nordenskjöld, M., Anderlid, B.M. Eur. J. Hum. Genet. (2005) [Pubmed]
  11. Sequence characterization of a newly identified human alpha-tubulin gene (TUBA2). Dodé, C., Weil, D., Levilliers, J., Crozet, F., Chaïb, H., Levi-Acobas, F., Guilford, P., Petit, C. Genomics (1998) [Pubmed]
  12. Patellar dislocation in Kabuki syndrome. Kurosawa, K., Kawame, H., Ochiai, Y., Nakashima, M., Tohma, T., Ohashi, H. Am. J. Med. Genet. (2002) [Pubmed]
  13. Severe congenital anomalies requiring transplantation in children with Kabuki syndrome. Ewart-Toland, A., Enns, G.M., Cox, V.A., Mohan, G.C., Rosenthal, P., Golabi, M. Am. J. Med. Genet. (1998) [Pubmed]
  14. A child with Kabuki syndrome and primary sclerosing cholangitis successfully treated with ursodiol and cholestryamine. Suskind, D.L., Finn, L., Wahbeh, G., Christie, D., Horslen, S. J. Pediatr. Gastroenterol. Nutr. (2006) [Pubmed]
  15. Ring chromosome X in a child with manifestations of Kabuki syndrome. McGinniss, M.J., Brown, D.H., Burke, L.W., Mascarello, J.T., Jones, M.C. Am. J. Med. Genet. (1997) [Pubmed]
  16. Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2. Li, M., Zackai, E.H., Niikawa, N., Kaplan, P., Driscoll, D.A. Am. J. Med. Genet. (1996) [Pubmed]
  17. Kabuki syndrome-like features associated with a small ring chromosome X and XIST gene expression. Stankiewicz, P., Thiele, H., Giannakudis, I., Schlicker, M., Baldermann, C., Krüger, A., Dörr, S., Starke, H., Hansmann, I. Am. J. Med. Genet. (2001) [Pubmed]
  18. CNS malformation in a child with Kabuki (Niikawa-Kuroki) syndrome: report and review. Chu, D.C., Finley, S.C., Young, D.W., Proud, V.K. Am. J. Med. Genet. (1997) [Pubmed]
  19. Inner ear abnormalities in Kabuki make-up syndrome: report of three cases. Igawa, H.H., Nishizawa, N., Sugihara, T., Inuyama, Y. Am. J. Med. Genet. (2000) [Pubmed]
  20. Quadrigeminal cistern arachnoid cyst in a patient with Kabuki syndrome. Kara, B., Kayserili, H., Imer, M., Calişkan, M., Ozmen, M. Pediatr. Neurol. (2006) [Pubmed]
  21. Defective clavicles in Kabuki syndrome. Hinrichs, B., Gramss, B., Meinecke, P. Genetic counseling (Geneva, Switzerland) (2002) [Pubmed]
  22. Kabuki syndrome: oral and general features seen in a 2-year-old Chinese boy. Atar, M., Lee, W., O'Donnell, D. International journal of paediatric dentistry / the British Paedodontic Society [and] the International Association of Dentistry for Children. (2006) [Pubmed]
  23. Occlusal guidance of two Kabuki make-up syndrome patients: case reports. Takada, K., Fukushima, H., Watanabe, S., Ishida, M., Ogasawara, H., Motokawa, W. The Journal of clinical pediatric dentistry. (2004) [Pubmed]
  24. No major contribution of the TGFBR1- and TGFBR2-mediated pathway to Kabuki syndrome. Bottani, A., Pardo, B., Bouchardy, I., Schoumans, J., Toutain, A., Conrad, B. Am. J. Med. Genet. A (2006) [Pubmed]
  25. Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41. Makita, Y., Yamada, K., Miyamoto, A., Okuno, A., Niikawa, N. Am. J. Med. Genet. (1999) [Pubmed]
  26. Unexpected life-threatening complications in Kabuki syndrome. van Haelst, M.M., Brooks, A.S., Hoogeboom, J., Wessels, M.W., Tibboel, D., de Jongste, J.C., den Hollander, J.C., Bongers-Schokking, J.J., Niermeijer, M.F., Willems, P.J. Am. J. Med. Genet. (2000) [Pubmed]
  27. Favorable seizure outcome in Kabuki make-up syndrome associated with epilepsy. Ogawa, A., Yasumoto, S., Tomoda, Y., Ohfu, M., Mitsudome, A., Kuroki, Y. J. Child Neurol. (2003) [Pubmed]
  28. Growth hormone deficiency and premature thelarche in a female infant with kabuki makeup syndrome. Devriendt, K., Lemli, L., Craen, M., de Zegher, F. Horm. Res. (1995) [Pubmed]
  29. 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. J. Pediatr. (1981) [Pubmed]
  30. 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. Pediatric neurology. (2004) [Pubmed]
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