Tomita H - Search Results

1

LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density.

Mizuguchi T, Furuta I, Watanabe Y, Tsukamoto K, Tomita H, Tsujihata M, Ohta T, Kishino T, Matsumoto N, Minakami H, Niikawa N, Yoshiura KI. Mizuguchi T, et al. Among authors: tomita h. J Hum Genet. 2004;49(2):80-86. doi: 10.1007/s10038-003-0111-6. Epub 2004 Jan 15. J Hum Genet. 2004. PMID: 14727154

2

An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12.

Yamada K, Tomita H, Yoshiura K, Kondo S, Wakui K, Fukushima Y, Ikegawa S, Nakamura Y, Amemiya T, Niikawa N. Yamada K, et al. Among authors: tomita h. Eur J Hum Genet. 2000 Jul;8(7):535-9. doi: 10.1038/sj.ejhg.5200485. Eur J Hum Genet. 2000. PMID: 10909854

3

Maternal uniparental disomy for chromosome 14 in a boy with intrauterine growth retardation.

Miyoshi O, Hayashi S, Fujimoto M, Tomita H, Sohda M, Niikawa N. Miyoshi O, et al. Among authors: tomita h. J Hum Genet. 1998;43(2):138-42. doi: 10.1007/s100380050056. J Hum Genet. 1998. PMID: 9621521 Review.

4

Confirmation of genetic homogeneity of syndactyly type 1 in an Iranian family.

Ghadami M, Majidzadeh-A K, Haerian BS, Damavandi E, Yamada K, Pasallar P, Najafi MT, Nishimura G, Tomita HA, Yoshiura KI, Niikawa N. Ghadami M, et al. Among authors: tomita ha. Am J Med Genet. 2001 Nov 22;104(2):147-51. doi: 10.1002/ajmg.10061. Am J Med Genet. 2001. PMID: 11746046

5

The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32.

Fujimoto M, Kantaputra PN, Ikegawa S, Fukushima Y, Sonta S, Matsuo M, Ishida T, Matsumoto T, Kondo S, Tomita H, Deng HX, D'urso M, Rinaldi MM, Ventruto V, Takagi T, Nakamura Y, Niikawa N. Fujimoto M, et al. Among authors: tomita h. J Hum Genet. 1998;43(1):32-6. doi: 10.1007/s100380050033. J Hum Genet. 1998. PMID: 9609995

6

Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.

Kinoshita A, Saito T, Tomita H, Makita Y, Yoshida K, Ghadami M, Yamada K, Kondo S, Ikegawa S, Nishimura G, Fukushima Y, Nakagomi T, Saito H, Sugimoto T, Kamegaya M, Hisa K, Murray JC, Taniguchi N, Niikawa N, Yoshiura K. Kinoshita A, et al. Among authors: tomita h. Nat Genet. 2000 Sep;26(1):19-20. doi: 10.1038/79128. Nat Genet. 2000. PMID: 10973241

7

Characterization of the promoter region, first ten exons and nine intron-exon boundaries of the DNA-dependent protein kinase catalytic subunit gene, DNA-PKcs (XRCC7).

Fujimoto M, Matsumoto N, Tsujita T, Tomita H, Kondo S, Miyake N, Nakano M, Niikawa N. Fujimoto M, et al. Among authors: tomita h. DNA Res. 1997 Apr 28;4(2):151-4. doi: 10.1093/dnares/4.2.151. DNA Res. 1997. PMID: 9205842 Free article.

8

Genetically distinct autosomal dominant posterior polar cataract in a four-generation Japanese family.

Yamada K, Tomita HA, Kanazawa S, Mera A, Amemiya T, Niikawa N. Yamada K, et al. Among authors: tomita ha. Am J Ophthalmol. 2000 Feb;129(2):159-65. doi: 10.1016/s0002-9394(99)00313-x. Am J Ophthalmol. 2000. PMID: 10682967

9

Bardet-Biedl syndrome type 3 in an Iranian family: clinical study and confirmation of disease localization.

Ghadami M, Tomita HA, Najafi MT, Damavandi E, Farahvash MS, Yamada K, Majidzadeh-A K, Niikawa N. Ghadami M, et al. Among authors: tomita ha. Am J Med Genet. 2000 Oct 23;94(5):433-7. doi: 10.1002/1096-8628(20001023)94:5<433::aid-ajmg17>3.0.co;2-x. Am J Med Genet. 2000. PMID: 11050632

10

A 1.2-megabase BAC/PAC contig spanning the 14q13 breakpoint of t(2; 14) in a mirror-image polydactyly patient.

Matsumoto N, Soeda E, Ohashi H, Fujimoto M, Kato R, Tsujita T, Tomita H, Kondo S, Fukushima Y, Niikawa N. Matsumoto N, et al. Among authors: tomita h. Genomics. 1997 Oct 1;45(1):11-6. doi: 10.1006/geno.1997.4897. Genomics. 1997. PMID: 9339355

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