Naritomi K - Search Results

1

Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome.

Kaname T, Yanagi K, Chinen Y, Makita Y, Okamoto N, Maehara H, Owan I, Kanaya F, Kubota Y, Oike Y, Yamamoto T, Kurosawa K, Fukushima Y, Bohring A, Opitz JM, Yoshiura K, Niikawa N, Naritomi K. Kaname T, et al. Among authors: naritomi k. Am J Hum Genet. 2007 Oct;81(4):835-41. doi: 10.1086/522014. Epub 2007 Aug 27. Am J Hum Genet. 2007. PMID: 17847009 Free PMC article.

2

Combined Goltz and Aicardi syndromes in a terminal Xp deletion: are they a contiguous gene syndrome?

Naritomi K, Izumikawa Y, Nagataki S, Fukushima Y, Wakui K, Niikawa N, Hirayama K. Naritomi K, et al. Am J Med Genet. 1992 Jul 15;43(5):839-43. doi: 10.1002/ajmg.1320430517. Am J Med Genet. 1992. PMID: 1642272

3

Diagnostic hand anomalies in Smith-Magenis syndrome: four new patients with del (17)(p11.2p11.2).

Kondo I, Matsuura S, Kuwajima K, Tokashiki M, Izumikawa Y, Naritomi K, Niikawa N, Kajii T. Kondo I, et al. Among authors: naritomi k. Am J Med Genet. 1991 Nov 1;41(2):225-9. doi: 10.1002/ajmg.1320410219. Am J Med Genet. 1991. PMID: 1785639

4

Replication asynchrony between homologs 15q11.2: cytogenetic evidence for genomic imprinting.

Izumikawa Y, Naritomi K, Hirayama K. Izumikawa Y, et al. Among authors: naritomi k. Hum Genet. 1991 May;87(1):1-5. doi: 10.1007/BF01213082. Hum Genet. 1991. PMID: 2037275

5

Cytogenetic and molecular study of Angelman syndrome.

Imaizumi K, Takada F, Kuroki Y, Naritomi K, Hamabe J, Niikawa N. Imaizumi K, et al. Among authors: naritomi k. Am J Med Genet. 1990 Mar;35(3):314-8. doi: 10.1002/ajmg.1320350305. Am J Med Genet. 1990. PMID: 2309778

6

Gene assignment of Zellweger syndrome to 7q11.23: report of the second case associated with a pericentric inversion of chromosome 7.

Naritomi K, Izumikawa Y, Ohshiro S, Yoshida K, Shimozawa N, Suzuki Y, Orii T, Hirayama K. Naritomi K, et al. Hum Genet. 1989 Dec;84(1):79-80. doi: 10.1007/BF00210677. Hum Genet. 1989. PMID: 2606480

7

Trisomy 9q3 syndrome: a case report and review of the literature.

Naritomi K, Izumikawa Y, Goya Y, Gushiken M, Shiroma N, Hirayama K. Naritomi K, et al. Clin Genet. 1989 Apr;35(4):293-8. doi: 10.1111/j.1399-0004.1989.tb02947.x. Clin Genet. 1989. PMID: 2653675 Review.

8

Partial trisomy of distal 8q derived from mother with mosaic 8q23.3----24.13 deletion, and relatively mild expression of trichorhinophalangeal syndrome I.

Naritomi K, Hirayama K. Naritomi K, et al. Hum Genet. 1989 May;82(2):199-201. doi: 10.1007/BF00284059. Hum Genet. 1989. PMID: 2722199

9

Zellweger syndrome and a microdeletion of the proximal long arm of chromosome 7.

Naritomi K, Hyakuna N, Suzuki Y, Orii T, Hirayama K. Naritomi K, et al. Hum Genet. 1988 Oct;80(2):201-2. doi: 10.1007/BF00702873. Hum Genet. 1988. PMID: 3169748

10

16q21 is critical for 16q deletion syndrome.

Naritomi K, Shiroma N, Izumikawa Y, Sameshima K, Ohdo S, Hirayama K. Naritomi K, et al. Clin Genet. 1988 May;33(5):372-5. doi: 10.1111/j.1399-0004.1988.tb03464.x. Clin Genet. 1988. PMID: 3378367

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