Matsumoto N - Search Results

1

A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family.

Okubo A, Miyoshi O, Baba K, Takagi M, Tsukamoto K, Kinoshita A, Yoshiura K, Kishino T, Ohta T, Niikawa N, Matsumoto N. Okubo A, et al. Among authors: matsumoto n. J Med Genet. 2004 Jul;41(7):e97. doi: 10.1136/jmg.2004.018895. J Med Genet. 2004. PMID: 15235040 Free PMC article. No abstract available.

2

Physical map of a YAC contig containing the region of the human gene (HYRC) complementing hyper-radiosensitivity of the scid mouse mutation.

Watanabe Y, Matsumoto N, Ohta T, Tsujita T, Niikawa N. Watanabe Y, et al. Among authors: matsumoto n. Jpn J Hum Genet. 1996 Mar;41(1):149-58. doi: 10.1007/BF01892622. Jpn J Hum Genet. 1996. PMID: 8914630

3

Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1.

Soejima H, Fujimoto M, Tsukamoto K, Matsumoto N, Yoshiura KI, Fukushima Y, Jinno Y, Niikawa N. Soejima H, et al. Among authors: matsumoto n. Hum Mutat. 1997;9(2):177-80. doi: 10.1002/(SICI)1098-1004(1997)9:2<177::AID-HUMU11>3.0.CO;2-#. Hum Mutat. 1997. PMID: 9067759 No abstract available.

4

Molecular mapping of a translocation breakpoint at 14q13 in a patient with mirror-image polydactyly of hands and feet.

Matsumoto N, Ohashi H, Kato R, Fujimoto M, Tsujita T, Sasaki T, Nakano M, Miyoshi O, Fukushima Y, Niikawa N. Matsumoto N, et al. Hum Genet. 1997 Apr;99(4):450-3. doi: 10.1007/s004390050387. Hum Genet. 1997. PMID: 9099832

5

Assignment of the human connexin43 gene, GJA1, to chromosome 6q22.3.

Kato R, Matsumoto N, Niikawa N. Kato R, et al. Among authors: matsumoto n. Jpn J Hum Genet. 1997 Mar;42(1):213-6. doi: 10.1007/BF02766924. Jpn J Hum Genet. 1997. PMID: 9184001

6

Fish mapping of a translocation breakpoint at 6q21 (or q22) in a patient with heterotaxia.

Kato R, Matsumoto N, Fujimoto M, Nakano M, Nakamura Y, Niikawa N. Kato R, et al. Among authors: matsumoto n. Jpn J Hum Genet. 1997 Dec;42(4):525-32. doi: 10.1007/BF02767029. Jpn J Hum Genet. 1997. PMID: 9560952

7

Identification of eight novel NSD1 mutations in Sotos syndrome.

Kamimura J, Endo Y, Kurotaki N, Kinoshita A, Miyake N, Shimokawa O, Harada N, Visser R, Ohashi H, Miyakawa K, Gerritsen J, Innes AM, Lagace L, Frydman M, Okamoto N, Puttinger R, Raskin S, Resic B, Culic V, Yoshiura K, Ohta T, Kishino T, Ishikawa M, Niikawa N, Matsumoto N. Kamimura J, et al. Among authors: matsumoto n. J Med Genet. 2003 Nov;40(11):e126. doi: 10.1136/jmg.40.11.e126. J Med Genet. 2003. PMID: 14627693 Free PMC article. No abstract available.

8

Assignment of the human GLI2 gene to 2q14 by fluorescence in situ hybridization.

Matsumoto N, Fujimoto M, Kato R, Niikawa N. Matsumoto N, et al. Genomics. 1996 Aug 15;36(1):220-1. doi: 10.1006/geno.1996.0454. Genomics. 1996. PMID: 8812445 No abstract available.

9

Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene.

Kurotaki N, Harada N, Yoshiura K, Sugano S, Niikawa N, Matsumoto N. Kurotaki N, et al. Among authors: matsumoto n. Gene. 2001 Nov 28;279(2):197-204. doi: 10.1016/s0378-1119(01)00750-8. Gene. 2001. PMID: 11733144

10

Visser R, Shimokawa O, Harada N, Niikawa N, Matsumoto N. Visser R, et al. Among authors: matsumoto n. J Med Genet. 2005 Nov;42(11):e66. doi: 10.1136/jmg.2005.034355. J Med Genet. 2005. PMID: 16272258 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

3,338 results

Search Page

Filters