Niikawa N - Search Results

1

Angelman syndrome caused by an identical familial 1,487-kb deletion.

Sato K, Iwakoshi M, Shimokawa O, Sakai H, Ohta T, Saitoh S, Miyake N, Niikawa N, Harada N, Saitsu H, Mizuguchi T, Matsumoto N. Sato K, et al. Among authors: niikawa n. Am J Med Genet A. 2007 Jan 1;143A(1):98-101. doi: 10.1002/ajmg.a.31550. Am J Med Genet A. 2007. PMID: 17152063 No abstract available.

2

On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS.

Miyake N, Harada N, Shimokawa O, Ohashi H, Kurosawa K, Matsumoto T, Fukushima Y, Nagai T, Shotelersuk V, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. Miyake N, et al. Among authors: niikawa n. Am J Med Genet A. 2004 Jul 15;128A(2):170-2. doi: 10.1002/ajmg.a.30137. Am J Med Genet A. 2004. PMID: 15214010 No abstract available.

3

A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome.

Harada N, Visser R, Dawson A, Fukamachi M, Iwakoshi M, Okamoto N, Kishino T, Niikawa N, Matsumoto N. Harada N, et al. Among authors: niikawa n. J Hum Genet. 2004;49(8):440-444. doi: 10.1007/s10038-004-0166-z. Epub 2004 Jul 16. J Hum Genet. 2004. PMID: 15258833

4

Phenotype-genotype correlation in two patients with 12q proximal deletion.

Miyake N, Tonoki H, Gallego M, Harada N, Shimokawa O, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. Miyake N, et al. Among authors: niikawa n. J Hum Genet. 2004;49(5):282-4. doi: 10.1007/s10038-004-0144-5. J Hum Genet. 2004. PMID: 15362574

5

Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion.

Visser R, Shimokawa O, Harada N, Kinoshita A, Ohta T, Niikawa N, Matsumoto N. Visser R, et al. Among authors: niikawa n. Am J Hum Genet. 2005 Jan;76(1):52-67. doi: 10.1086/426950. Epub 2004 Nov 16. Am J Hum Genet. 2005. PMID: 15580547 Free PMC article.

6

Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia.

Shimokawa O, Miyake N, Yoshimura T, Sosonkina N, Harada N, Mizuguchi T, Kondoh S, Kishino T, Ohta T, Remco V, Takashima T, Kinoshita A, Yoshiura K, Niikawa N, Matsumoto N. Shimokawa O, et al. Among authors: niikawa n. Am J Med Genet A. 2005 Jul 1;136(1):49-51. doi: 10.1002/ajmg.a.30778. Am J Med Genet A. 2005. PMID: 15937941

7

BAC array CGH reveals genomic aberrations in idiopathic mental retardation.

Miyake N, Shimokawa O, Harada N, Sosonkina N, Okubo A, Kawara H, Okamoto N, Kurosawa K, Kawame H, Iwakoshi M, Kosho T, Fukushima Y, Makita Y, Yokoyama Y, Yamagata T, Kato M, Hiraki Y, Nomura M, Yoshiura K, Kishino T, Ohta T, Mizuguchi T, Niikawa N, Matsumoto N. Miyake N, et al. Among authors: niikawa n. Am J Med Genet A. 2006 Feb 1;140(3):205-11. doi: 10.1002/ajmg.a.31098. Am J Med Genet A. 2006. PMID: 16419101

8

Array comparative genomic hybridization analysis in first-trimester spontaneous abortions with 'normal' karyotypes.

Shimokawa O, Harada N, Miyake N, Satoh K, Mizuguchi T, Niikawa N, Matsumoto N. Shimokawa O, et al. Among authors: niikawa n. Am J Med Genet A. 2006 Sep 15;140(18):1931-5. doi: 10.1002/ajmg.a.31421. Am J Med Genet A. 2006. PMID: 16906550

9

Congenital arhinia: molecular-genetic analysis of five patients.

Sato D, Shimokawa O, Harada N, Olsen OE, Hou JW, Muhlbauer W, Blinkenberg E, Okamoto N, Kinoshita A, Matsumoto N, Kondo S, Kishino T, Miwa N, Ariga T, Niikawa N, Yoshiura K. Sato D, et al. Among authors: niikawa n. Am J Med Genet A. 2007 Mar 15;143A(6):546-52. doi: 10.1002/ajmg.a.31613. Am J Med Genet A. 2007. PMID: 17304554

10

A girl with Down syndrome and partial trisomy for 21pter-q22.13: a clue to narrow the Down syndrome critical region.

Sato D, Kawara H, Shimokawa O, Harada N, Tonoki H, Takahashi N, Imai Y, Kimura H, Matsumoto N, Ariga T, Niikawa N, Yoshiura K. Sato D, et al. Among authors: niikawa n. Am J Med Genet A. 2008 Jan 1;146A(1):124-7. doi: 10.1002/ajmg.a.31974. Am J Med Genet A. 2008. PMID: 18074380 No abstract available.

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