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Results: 1 to 20 of 414

1.

Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.

Kaname T, Ki CS, Niikawa N, Baillie GS, Day JP, Yamamura K, Ohta T, Nishimura G, Mastuura N, Kim OH, Sohn YB, Kim HW, Cho SY, Ko AR, Lee JY, Kim HW, Ryu SH, Rhee H, Yang KS, Joo K, Lee J, Kim CH, Cho KH, Kim D, Yanagi K, Naritomi K, Yoshiura K, Kondoh T, Nii E, Tonoki H, Houslay MD, Jin DK.

Cell Signal. 2014 Nov;26(11):2446-59. doi: 10.1016/j.cellsig.2014.07.025. Epub 2014 Jul 24.

PMID:
25064455
[PubMed - in process]
2.

Transforming growth factor beta1 (TGFβ1) polymorphisms and breast cancer risk.

Amani D, Khalilnezhad A, Ghaderi A, Niikawa N, Yoshiura K.

Tumour Biol. 2014 May;35(5):4757-64. doi: 10.1007/s13277-014-1621-x. Epub 2014 Jan 15.

PMID:
24425107
[PubMed - indexed for MEDLINE]
3.

MLL2 and KDM6A mutations in patients with Kabuki syndrome.

Miyake N, Koshimizu E, Okamoto N, Mizuno S, Ogata T, Nagai T, Kosho T, Ohashi H, Kato M, Sasaki G, Mabe H, Watanabe Y, Yoshino M, Matsuishi T, Takanashi J, Shotelersuk V, Tekin M, Ochi N, Kubota M, Ito N, Ihara K, Hara T, Tonoki H, Ohta T, Saito K, Matsuo M, Urano M, Enokizono T, Sato A, Tanaka H, Ogawa A, Fujita T, Hiraki Y, Kitanaka S, Matsubara Y, Makita T, Taguri M, Nakashima M, Tsurusaki Y, Saitsu H, Yoshiura K, Matsumoto N, Niikawa N.

Am J Med Genet A. 2013 Sep;161A(9):2234-43. doi: 10.1002/ajmg.a.36072. Epub 2013 Aug 2.

PMID:
23913813
[PubMed - indexed for MEDLINE]
4.

Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature.

Kosho T, Okamoto N, Ohashi H, Tsurusaki Y, Imai Y, Hibi-Ko Y, Kawame H, Homma T, Tanabe S, Kato M, Hiraki Y, Yamagata T, Yano S, Sakazume S, Ishii T, Nagai T, Ohta T, Niikawa N, Mizuno S, Kaname T, Naritomi K, Narumi Y, Wakui K, Fukushima Y, Miyatake S, Mizuguchi T, Saitsu H, Miyake N, Matsumoto N.

Am J Med Genet A. 2013 Jun;161A(6):1221-37. doi: 10.1002/ajmg.a.35933. Epub 2013 May 1. Review.

PMID:
23637025
[PubMed - in process]
5.

Pharmacogenetics of human ABC transporter ABCC11: new insights into apocrine gland growth and metabolite secretion.

Ishikawa T, Toyoda Y, Yoshiura K, Niikawa N.

Front Genet. 2013 Jan 2;3:306. doi: 10.3389/fgene.2012.00306. eCollection 2012.

PMID:
23316210
[PubMed]
Free PMC Article
6.

The history of human populations in the Japanese Archipelago inferred from genome-wide SNP data with a special reference to the Ainu and the Ryukyuan populations.

Japanese Archipelago Human Population Genetics Consortium, Jinam T, Nishida N, Hirai M, Kawamura S, Oota H, Umetsu K, Kimura R, Ohashi J, Tajima A, Yamamoto T, Tanabe H, Mano S, Suto Y, Kaname T, Naritomi K, Yanagi K, Niikawa N, Omoto K, Tokunaga K, Saitou N.

J Hum Genet. 2012 Dec;57(12):787-95. doi: 10.1038/jhg.2012.114. Epub 2012 Nov 8.

PMID:
23135232
[PubMed - indexed for MEDLINE]
7.

KDM6A point mutations cause Kabuki syndrome.

Miyake N, Mizuno S, Okamoto N, Ohashi H, Shiina M, Ogata K, Tsurusaki Y, Nakashima M, Saitsu H, Niikawa N, Matsumoto N.

Hum Mutat. 2013 Jan;34(1):108-10. doi: 10.1002/humu.22229. Epub 2012 Oct 17.

PMID:
23076834
[PubMed - indexed for MEDLINE]
8.

Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome.

Hosoki K, Ohta T, Natsume J, Imai S, Okumura A, Matsui T, Harada N, Bacino CA, Scaglia F, Jones JY, Niikawa N, Saitoh S.

Am J Med Genet A. 2012 Aug;158A(8):1891-6. doi: 10.1002/ajmg.a.35439. Epub 2012 Jun 18.

PMID:
22711443
[PubMed - indexed for MEDLINE]
9.

An elderly patient who developed spontaneous spinal epidural hematoma during warfarin therapy.

Yabe H, Ishii A, Niikawa N, Matsubayashi H, Kakei M, Kawakami M, Sugawara H.

Intern Med. 2012;51(11):1429-32. Epub 2012 Jun 1.

PMID:
22687856
[PubMed - indexed for MEDLINE]
Free Article
10.

Three patients with Wolf-Hirschhorn syndrome carrying a satellited chromosome 4p.

Liang D, Zhou Z, Meng D, Du J, Wen J, Niikawa N, Wu L.

Birth Defects Res A Clin Mol Teratol. 2012 Jul;94(7):549-52. doi: 10.1002/bdra.23019. Epub 2012 May 29.

PMID:
22641563
[PubMed - indexed for MEDLINE]
11.

Hand-foot-genital syndrome with a 7p15 deletion: clinically recognizable syndrome.

Hosoki K, Ohta T, Fujita K, Nishigaki S, Shiomi M, Niikawa N, Saitoh S.

Pediatr Int. 2012 Jun;54(3):e22-5. doi: 10.1111/j.1442-200X.2011.03550.x. No abstract available.

PMID:
22631585
[PubMed - indexed for MEDLINE]
12.

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N.

Nat Genet. 2012 Mar 18;44(4):376-8. doi: 10.1038/ng.2219.

PMID:
22426308
[PubMed - indexed for MEDLINE]
13.

Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.

Ono S, Yoshiura K, Kinoshita A, Kikuchi T, Nakane Y, Kato N, Sadamatsu M, Konishi T, Nagamitsu S, Matsuura M, Yasuda A, Komine M, Kanai K, Inoue T, Osamura T, Saito K, Hirose S, Koide H, Tomita H, Ozawa H, Niikawa N, Kurotaki N.

J Hum Genet. 2012 May;57(5):338-41. doi: 10.1038/jhg.2012.23. Epub 2012 Mar 8. Erratum in: J Hum Genet. 2012 Jun;57(6):399.

PMID:
22399141
[PubMed - indexed for MEDLINE]
14.

Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome.

Arima K, Kinoshita A, Mishima H, Kanazawa N, Kaneko T, Mizushima T, Ichinose K, Nakamura H, Tsujino A, Kawakami A, Matsunaka M, Kasagi S, Kawano S, Kumagai S, Ohmura K, Mimori T, Hirano M, Ueno S, Tanaka K, Tanaka M, Toyoshima I, Sugino H, Yamakawa A, Tanaka K, Niikawa N, Furukawa F, Murata S, Eguchi K, Ida H, Yoshiura K.

Proc Natl Acad Sci U S A. 2011 Sep 6;108(36):14914-9. doi: 10.1073/pnas.1106015108. Epub 2011 Aug 18.

PMID:
21852578
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.

Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, Gildersleeve HI, Bigham AW, Tabor HK, Mefford HC, Cook J, Yoshiura K, Matsumoto T, Matsumoto N, Miyake N, Tonoki H, Naritomi K, Kaname T, Nagai T, Ohashi H, Kurosawa K, Hou JW, Ohta T, Liang D, Sudo A, Morris CA, Banka S, Black GC, Clayton-Smith J, Nickerson DA, Zackai EH, Shaikh TH, Donnai D, Niikawa N, Shendure J, Bamshad MJ.

Am J Med Genet A. 2011 Jul;155A(7):1511-6. doi: 10.1002/ajmg.a.34074. Epub 2011 Jun 10.

PMID:
21671394
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Down-regulation of ABCC11 protein (MRP8) in human breast cancer.

Sosonkina N, Nakashima M, Ohta T, Niikawa N, Starenki D.

Exp Oncol. 2011 Mar;33(1):42-6.

PMID:
21423094
[PubMed - indexed for MEDLINE]
17.

Mutation and copy number analysis in paroxysmal kinesigenic dyskinesia families.

Ono S, Yoshiura K, Kurotaki N, Kikuchi T, Niikawa N, Kinoshita A.

Mov Disord. 2011 Mar;26(4):761-3. doi: 10.1002/mds.23475. Epub 2011 Feb 10. No abstract available.

PMID:
21312274
[PubMed - indexed for MEDLINE]
18.

Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders.

Miura K, Higashijima A, Shimada T, Miura S, Yamasaki K, Abe S, Jo O, Kinoshita A, Yoshida A, Yoshimura S, Niikawa N, Yoshiura K, Masuzaki H.

J Hum Genet. 2011 Apr;56(4):296-9. doi: 10.1038/jhg.2011.7. Epub 2011 Feb 10.

PMID:
21307866
[PubMed - indexed for MEDLINE]
19.

SMOC1 is essential for ocular and limb development in humans and mice.

Okada I, Hamanoue H, Terada K, Tohma T, Megarbane A, Chouery E, Abou-Ghoch J, Jalkh N, Cogulu O, Ozkinay F, Horie K, Takeda J, Furuichi T, Ikegawa S, Nishiyama K, Miyatake S, Nishimura A, Mizuguchi T, Niikawa N, Hirahara F, Kaname T, Yoshiura K, Tsurusaki Y, Doi H, Miyake N, Furukawa T, Matsumoto N, Saitsu H.

Am J Hum Genet. 2011 Jan 7;88(1):30-41. doi: 10.1016/j.ajhg.2010.11.012. Epub 2010 Dec 30.

PMID:
21194678
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Coding region polymorphisms in the indoleamine 2,3-dioxygenase (INDO) gene and recurrent spontaneous abortion.

Amani D, Ravangard F, Niikawa N, Yoshiura K, Karimzadeh M, Dehaghani AS, Ghaderi A.

J Reprod Immunol. 2011 Jan;88(1):42-7. doi: 10.1016/j.jri.2010.07.007. Epub 2010 Oct 27.

PMID:
21030093
[PubMed - indexed for MEDLINE]

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