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90 results
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Inverted insertion of chromosome 7q and ectrodactyly.
Naritomi K, Izumikawa Y, Tohma T, Hirayama K. Naritomi K, et al. Among authors: tohma t. Am J Med Genet. 1993 Jun 15;46(5):492-3. doi: 10.1002/ajmg.1320460505. Am J Med Genet. 1993. PMID: 8322806
Patellar dislocation in Kabuki syndrome.
Kurosawa K, Kawame H, Ochiai Y, Nakashima M, Tohma T, Ohashi H. Kurosawa K, et al. Among authors: tohma t. Am J Med Genet. 2002 Mar 1;108(2):160-3. doi: 10.1002/ajmg.10247. Am J Med Genet. 2002. PMID: 11857567
A locus for ophthalmo-acromelic syndrome mapped to 10p11.23.
Hamanoue H, Megarbane A, Tohma T, Nishimura A, Mizuguchi T, Saitsu H, Sakai H, Miura S, Toda T, Miyake N, Niikawa N, Yoshiura K, Hirahara F, Matsumoto N. Hamanoue H, et al. Among authors: tohma t. Am J Med Genet A. 2009 Mar;149A(3):336-42. doi: 10.1002/ajmg.a.32656. Am J Med Genet A. 2009. PMID: 19208380
Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan.
Chinen Y, Tohma T, Izumikawa Y, Uehara H, Ohta T. Chinen Y, et al. Among authors: tohma t. J Hum Genet. 2005;50(7):357-359. doi: 10.1007/s10038-005-0258-4. Epub 2005 Jun 3. J Hum Genet. 2005. PMID: 15933803
SMOC1 is essential for ocular and limb development in humans and mice.
Okada I, Hamanoue H, Terada K, Tohma T, Megarbane A, Chouery E, Abou-Ghoch J, Jalkh N, Cogulu O, Ozkinay F, Horie K, Takeda J, Furuichi T, Ikegawa S, Nishiyama K, Miyatake S, Nishimura A, Mizuguchi T, Niikawa N, Hirahara F, Kaname T, Yoshiura K, Tsurusaki Y, Doi H, Miyake N, Furukawa T, Matsumoto N, Saitsu H. Okada I, et al. Among authors: tohma t. Am J Hum Genet. 2011 Jan 7;88(1):30-41. doi: 10.1016/j.ajhg.2010.11.012. Epub 2010 Dec 30. Am J Hum Genet. 2011. PMID: 21194678 Free PMC article.
Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere.
Warburton PE, Dolled M, Mahmood R, Alonso A, Li S, Naritomi K, Tohma T, Nagai T, Hasegawa T, Ohashi H, Govaerts LC, Eussen BH, Van Hemel JO, Lozzio C, Schwartz S, Dowhanick-Morrissette JJ, Spinner NB, Rivera H, Crolla JA, Yu C, Warburton D. Warburton PE, et al. Among authors: tohma t. Am J Hum Genet. 2000 Jun;66(6):1794-806. doi: 10.1086/302924. Epub 2000 Apr 24. Am J Hum Genet. 2000. PMID: 10777715 Free PMC article. Review.
Functional disomy for Xq26.3-qter in a boy with an unbalanced t(X;21)(q26.3;p11.2) translocation.
Akiyama M, Kawame H, Ohashi H, Tohma T, Ohta H, Shishikura A, Miyata I, Usui N, Eto Y. Akiyama M, et al. Among authors: tohma t. Am J Med Genet. 2001 Mar 1;99(2):111-4. doi: 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1150>3.0.co;2-c. Am J Med Genet. 2001. PMID: 11241467 Review.
Megalocornea-mental retardation syndrome: an additional case report.
Naritomi K, Chinen Y, Tohma T. Naritomi K, et al. Among authors: tohma t. Jpn J Hum Genet. 1997 Sep;42(3):461-5. doi: 10.1007/BF02766950. Jpn J Hum Genet. 1997. PMID: 12503196
Craniofacial and dental characteristics of Kabuki syndrome.
Matsune K, Shimizu T, Tohma T, Asada Y, Ohashi H, Maeda T. Matsune K, et al. Among authors: tohma t. Am J Med Genet. 2001 Jan 15;98(2):185-90. Am J Med Genet. 2001. PMID: 11223856
Two sisters with Toriello-Carey syndrome.
Chinen Y, Tohma T, Izumikawa Y, Taketomi H, Iha T, Ohta T, Naritomi K. Chinen Y, et al. Among authors: tohma t. Am J Med Genet. 1999 Nov 26;87(3):262-4. doi: 10.1002/(sici)1096-8628(19991126)87:3<262::aid-ajmg13>3.0.co;2-3. Am J Med Genet. 1999. PMID: 10564882
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