Yoshiura KI - Search Results

1

Patients with SATB2-associated syndrome exhibiting multiple odontomas.

Kikuiri T, Mishima H, Imura H, Suzuki S, Matsuzawa Y, Nakamura T, Fukumoto S, Yoshimura Y, Watanabe S, Kinoshita A, Yamada T, Shindoh M, Sugita Y, Maeda H, Yawaka Y, Mikoya T, Natsume N, Yoshiura KI. Kikuiri T, et al. Among authors: yoshiura ki. Am J Med Genet A. 2018 Dec;176(12):2614-2622. doi: 10.1002/ajmg.a.40670. Epub 2018 Dec 21. Am J Med Genet A. 2018. PMID: 30575289

2

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: yoshiura ki. Gene. 2002 Apr 17;288(1-2):57-63. doi: 10.1016/s0378-1119(02)00428-6. Gene. 2002. PMID: 12034494

3

A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-beta1 (TGF-beta1) and its signaling pathway.

Watanabe Y, Kinoshita A, Yamada T, Ohta T, Kishino T, Matsumoto N, Ishikawa M, Niikawa N, Yoshiura K. Watanabe Y, et al. J Hum Genet. 2002;47(9):478-83. doi: 10.1007/s100380200069. J Hum Genet. 2002. PMID: 12202987

4

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. Hum Genet. 2003 Mar;112(3):220-6. doi: 10.1007/s00439-002-0891-3. Epub 2003 Jan 28. Hum Genet. 2003. PMID: 12552318

5

Atp10a, the mouse ortholog of the human imprinted ATP10A gene, escapes genomic imprinting.

Kayashima T, Yamasaki K, Joh K, Yamada T, Ohta T, Yoshiura K, Matsumoto N, Nakane Y, Mukai T, Niikawa N, Kishino T. Kayashima T, et al. Genomics. 2003 Jun;81(6):644-7. doi: 10.1016/s0888-7543(03)00077-6. Genomics. 2003. PMID: 12782135

6

TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations.

Kinoshita A, Fukumaki Y, Shirahama S, Miyahara A, Nishimura G, Haga N, Namba A, Ueda H, Hayashi H, Ikegawa S, Seidel J, Niikawa N, Yoshiura KI. Kinoshita A, et al. Among authors: yoshiura ki. Am J Med Genet A. 2004 May 15;127A(1):104-107. doi: 10.1002/ajmg.a.20671. Am J Med Genet A. 2004. PMID: 15103729 No abstract available.

7

Isolated congenital anosmia with morphologically normal olfactory bulb in two Iranian families: a new clinical entity?

Ghadami M, Majidzadeh-A K, Morovvati S, Damavandi E, Nishimura G, Komatsu K, Kinoshita A, Najafi MT, Niikawa N, Yoshiura K. Ghadami M, et al. Am J Med Genet A. 2004 Jun 15;127A(3):307-9. doi: 10.1002/ajmg.a.30025. Am J Med Genet A. 2004. PMID: 15150785

8

The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus.

Kamimura J, Wakui K, Kadowaki H, Watanabe Y, Miyake K, Harada N, Sakamoto M, Kinoshita A, Yoshiura KI, Ohta T, Kishino T, Ishikawa M, Kasuga M, Fukushima Y, Niikawa N, Matsumoto N. Kamimura J, et al. Among authors: yoshiura ki. J Hum Genet. 2004;49(7):360-365. doi: 10.1007/s10038-004-0158-z. Epub 2004 Jun 18. J Hum Genet. 2004. PMID: 15221640

9

Heterozygous TGFBR2 mutations in Marfan syndrome.

Mizuguchi T, Collod-Beroud G, Akiyama T, Abifadel M, Harada N, Morisaki T, Allard D, Varret M, Claustres M, Morisaki H, Ihara M, Kinoshita A, Yoshiura K, Junien C, Kajii T, Jondeau G, Ohta T, Kishino T, Furukawa Y, Nakamura Y, Niikawa N, Boileau C, Matsumoto N. Mizuguchi T, et al. Nat Genet. 2004 Aug;36(8):855-60. doi: 10.1038/ng1392. Epub 2004 Jul 4. Nat Genet. 2004. PMID: 15235604 Free PMC article.

10

Two missense mutations in the IRF6 gene in two Japanese families with Van der Woude syndrome.

Matsuzawa N, Yoshiura K, Machida J, Nakamura T, Niimi T, Furukawa H, Toyoda T, Natsume N, Shimozato K, Niikawa N. Matsuzawa N, et al. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2004 Oct;98(4):414-7. doi: 10.1016/j.tripleo.2003.12.034. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2004. PMID: 15472655

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