Nanba E - Search Results

1

Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex.

Zhang H, Nanba E, Yamamoto T, Ninomiya H, Ohno K, Mizuguchi M, Takeshita K. Zhang H, et al. Among authors: nanba e. J Hum Genet. 1999;44(6):391-6. doi: 10.1007/s100380050185. J Hum Genet. 1999. PMID: 10570911

2

Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex.

Yamamoto T, Pipo JR, Feng JH, Takeda H, Nanba E, Ninomiya H, Ohno K. Yamamoto T, et al. Among authors: nanba e. Brain Dev. 2002 Jun;24(4):227-30. doi: 10.1016/s0387-7604(02)00017-7. Brain Dev. 2002. PMID: 12015165

3

Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation.

Feng JH, Yamamoto T, Nanba E, Ninomiya H, Oka A, Ohno K. Feng JH, et al. Among authors: nanba e. Hum Mutat. 2004 Apr;23(4):397. doi: 10.1002/humu.9225. Hum Mutat. 2004. PMID: 15024740

4

Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: identification of point mutations in Japanese patients with Lesch-Nyhan syndrome and hereditary gout and their permanent expression in an HPRT-deficient mouse cell line.

Tohyama J, Nanba E, Ohno K. Tohyama J, et al. Among authors: nanba e. Hum Genet. 1994 Feb;93(2):175-81. doi: 10.1007/BF00210606. Hum Genet. 1994. PMID: 8112742

5

Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity in a lung cyst.

Zhang H, Yamamoto T, Nanba E, Kitamura Y, Terada T, Akaboshi S, Yuasa I, Ohtani K, Nakamoto S, Takeshita K, Ohno K. Zhang H, et al. Among authors: nanba e. Am J Med Genet. 1999 Feb 19;82(5):368-70. doi: 10.1002/(sici)1096-8628(19990219)82:5<368::aid-ajmg2>3.0.co;2-i. Am J Med Genet. 1999. PMID: 10069705

6

A novel mutation (A246T) in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease.

Yamamoto T, Nanba E. Yamamoto T, et al. Among authors: nanba e. Hum Mutat. 1999 Aug 19;14(2):182. doi: 10.1002/(SICI)1098-1004(1999)14:2<182::AID-HUMU12>3.0.CO;2-Y. Hum Mutat. 1999. PMID: 10425042 No abstract available.

7

NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C.

Yamamoto T, Nanba E, Ninomiya H, Higaki K, Taniguchi M, Zhang H, Akaboshi S, Watanabe Y, Takeshima T, Inui K, Okada S, Tanaka A, Sakuragawa N, Millat G, Vanier MT, Morris JA, Pentchev PG, Ohno K. Yamamoto T, et al. Among authors: nanba e. Hum Genet. 1999 Jul-Aug;105(1-2):10-6. doi: 10.1007/s004399900059. Hum Genet. 1999. PMID: 10480349

8

Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome.

Chikumi H, Yamamoto T, Ohta Y, Nanba E, Nagata K, Ninomiya H, Narasaki K, Katoh T, Hisatome I, Ono K, Tanaka Y, Kuroda H, Ohgi S. Chikumi H, et al. Among authors: nanba e. J Hum Genet. 2000;45(2):115-8. doi: 10.1007/s100380050027. J Hum Genet. 2000. PMID: 10721679

9

A novel interstitial deletion of KAL1 in a Japanese family with Kallmann syndrome.

Nagata K, Yamamoto T, Chikumi H, Ikeda T, Yamamoto H, Hashimoto K, Yoneda K, Nanba E, Ninomiya H, Ishitobi K. Nagata K, et al. Among authors: nanba e. J Hum Genet. 2000;45(4):237-40. doi: 10.1007/s100380070033. J Hum Genet. 2000. PMID: 10944855

10

Two novel serine repeat length polymorphisms (1043insS and 1043insSS) at exon 23 of the TSC1 gene.

Pipo JR, Yamamoto T, Takeda H, Maegawa S, Nanba E, Ninomiya H, Ohno K, Takeshita K. Pipo JR, et al. Among authors: nanba e. Hum Mutat. 2000 Oct;16(4):375. doi: 10.1002/1098-1004(200010)16:4<375::AID-HUMU18>3.0.CO;2-T. Hum Mutat. 2000. PMID: 11013456 No abstract available.

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