Niikawa 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: niikawa 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

Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family.

Komatsu K, Nakamura N, Ghadami M, Matsumoto N, Kishino T, Ohta T, Niikawa N, Yoshiura K. Komatsu K, et al. Among authors: niikawa n. J Hum Genet. 2002;47(8):395-9. doi: 10.1007/s100380200057. J Hum Genet. 2002. PMID: 12181639

3

Haploinsufficiency of NSD1 causes Sotos syndrome.

Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondoh T, Nagai T, Ohashi H, Naritomi K, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Hasegawa T, Chinen Y, Tomita Ha HA, Kinoshita A, Mizuguchi T, Yoshiura Ki K, Ohta T, Kishino T, Fukushima Y, Niikawa N, Matsumoto N. Kurotaki N, et al. Among authors: niikawa n. Nat Genet. 2002 Apr;30(4):365-6. doi: 10.1038/ng863. Epub 2002 Mar 18. Nat Genet. 2002. PMID: 11896389

4

Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE).

Kayashima T, Matsuo H, Satoh A, Ohta T, Yoshiura K, Matsumoto N, Nakane Y, Niikawa N, Kishino T. Kayashima T, et al. Among authors: niikawa n. J Hum Genet. 2002;47(2):77-9. doi: 10.1007/s100380200004. J Hum Genet. 2002. PMID: 11916006

5

A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet.

Kondoh S, Sugawara H, Harada N, Matsumoto N, Ohashi H, Sato M, Kantaputra PN, Ogino T, Tomita H, Ohta T, Kishino T, Fukushima Y, Niikawa N, Yoshiura K. Kondoh S, et al. Among authors: niikawa n. J Hum Genet. 2002;47(3):136-9. doi: 10.1007/s100380200015. J Hum Genet. 2002. PMID: 11954550

6

The gene TSGA14, adjacent to the imprinted gene MEST, escapes genomic imprinting.

Yamada T, Kayashima T, Yamasaki K, Ohta T, Yoshiura Ki, Matsumoto N, Fujimoto S, Niikawa N, Kishino T. Yamada T, et al. Among authors: niikawa n. Gene. 2002 Apr 17;288(1-2):57-63. doi: 10.1016/s0378-1119(02)00428-6. Gene. 2002. PMID: 12034494

7

Maternal isodisomy for 14q21-q24 in a man with diabetes mellitus.

Kayashima T, Katahira M, Harada N, Miwa N, Ohta T, Yoshiura K, Matsumoto N, Nakane Y, Nakamura Y, Kajii T, Niikawa N, Kishino T. Kayashima T, et al. Among authors: niikawa n. Am J Med Genet. 2002 Jul 22;111(1):38-42. doi: 10.1002/ajmg.10511. Am J Med Genet. 2002. PMID: 12124731

8

Duplication of 8p23.2: a benign cytogenetic variant?

Harada N, Takano J, Kondoh T, Ohashi H, Hasegawa T, Sugawara H, Ida T, Yoshiura K, Ohta T, Kishino T, Kajii T, Niikawa N, Matsumoto N. Harada N, et al. Among authors: niikawa n. Am J Med Genet. 2002 Aug 15;111(3):285-8. doi: 10.1002/ajmg.10584. Am J Med Genet. 2002. PMID: 12210324

9

The novel imprinted carboxypeptidase A4 gene ( CPA4) in the 7q32 imprinting domain.

Kayashima T, Yamasaki K, Yamada T, Sakai H, Miwa N, Ohta T, Yoshiura K, Matsumoto N, Nakane Y, Kanetake H, Ishino F, Niikawa N, Kishino T. Kayashima T, et al. Among authors: niikawa n. Hum Genet. 2003 Mar;112(3):220-6. doi: 10.1007/s00439-002-0891-3. Epub 2003 Jan 28. Hum Genet. 2003. PMID: 12552318

10

Kabuki make-up syndrome: a review.

Matsumoto N, Niikawa N. Matsumoto N, et al. Among authors: niikawa n. Am J Med Genet C Semin Med Genet. 2003 Feb 15;117C(1):57-65. doi: 10.1002/ajmg.c.10020. Am J Med Genet C Semin Med Genet. 2003. PMID: 12561059 Review.

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

425 results

Search Page

Filters