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Items: 32

1.

A successful treatment of tadalafil in incontinentia pigmenti with pulmonary hypertension.

Mizuno M, Aso K, Tsuzuki Y, Kitazawa T, Migita O, Hokuto I, Yamamoto H.

Eur J Med Genet. 2019 Sep 10:103764. doi: 10.1016/j.ejmg.2019.103764. [Epub ahead of print]

PMID:
31518693
2.

Amplicon Sequencing-Based Noninvasive Fetal Genotyping for RHD-Positive D Antigen-Negative Alleles.

Takahashi K, Migita O, Sasaki A, Nasu M, Kawashima A, Sekizawa A, Sato T, Ito Y, Sago H, Okamoto A, Nakabayashi K, Hata K.

Clin Chem. 2019 Sep 5. pii: clinchem.2019.307074. doi: 10.1373/clinchem.2019.307074. [Epub ahead of print]

PMID:
31488553
3.

Analysis of chromosome microstructures in products of conception associated with recurrent miscarriage.

Sato T, Migita O, Hata H, Okamoto A, Hata K.

Reprod Biomed Online. 2019 May;38(5):787-795. doi: 10.1016/j.rbmo.2018.12.010. Epub 2018 Dec 21.

PMID:
30926177
4.

Liver transplantation: New treatment for mucopolysaccharidosis type VI in rats.

Toyama S, Migita O, Fujino M, Kunieda T, Kosuga M, Fukuhara Y, Nagahara Y, Li XK, Okuyama T.

Pediatr Int. 2019 Feb;61(2):180-189. doi: 10.1111/ped.13751. Epub 2019 Feb 21.

PMID:
30548979
5.

Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome.

Narumi-Kishimoto Y, Araki N, Migita O, Kawai T, Okamura K, Nakabayashi K, Kaname T, Ozawa Y, Ozawa H, Takada F, Hata K.

Eur J Med Genet. 2019 Sep;62(9):103547. doi: 10.1016/j.ejmg.2018.09.014. Epub 2018 Sep 26. No abstract available.

6.

Reading disability due to an ocular motor disorder: A case of an adolescent girl with a previous diagnosis of dyslexia.

Kurokami T, Koeda T, Migita O, Hata K.

Brain Dev. 2019 Feb;41(2):187-190. doi: 10.1016/j.braindev.2018.09.003. Epub 2018 Sep 25.

PMID:
30266219
7.

Molecular genetic analysis reveals atypical confined placental mosaicism with a small supernumerary marker chromosome derived from chromosome 18: A clinical report of discordant results from three prenatal tests.

Sato T, Samura O, Matsuoka T, Yoshida M, Aoki H, Migita O, Okamoto A, Hata K.

Eur J Med Genet. 2019 Jun;62(6):103533. doi: 10.1016/j.ejmg.2018.08.014. Epub 2018 Aug 30.

PMID:
30171908
8.

Novel TFAP2A mutation in a Japanese family with Branchio-oculo-facial syndrome.

Sato T, Samura O, Kato N, Taniguchi K, Takahashi K, Ito Y, Aoki H, Kobayashi M, Migita O, Okamoto A, Hata K.

Hum Genome Var. 2018 May 10;5:5. doi: 10.1038/s41439-018-0004-z. eCollection 2018.

9.

A novel heterozygous ITGB3 p.T720del inducing spontaneous activation of integrin αIIbβ3 in autosomal dominant macrothrombocytopenia with aggregation dysfunction.

Miyashita N, Onozawa M, Hayasaka K, Yamada T, Migita O, Hata K, Okada K, Goto H, Nakagawa M, Hashimoto D, Kahata K, Kondo T, Kunishima S, Teshima T.

Ann Hematol. 2018 Apr;97(4):629-640. doi: 10.1007/s00277-017-3214-4. Epub 2018 Jan 29.

10.

VaProS: a database-integration approach for protein/genome information retrieval.

Gojobori T, Ikeo K, Katayama Y, Kawabata T, Kinjo AR, Kinoshita K, Kwon Y, Migita O, Mizutani H, Muraoka M, Nagata K, Omori S, Sugawara H, Yamada D, Yura K.

J Struct Funct Genomics. 2016 Dec;17(4):69-81. doi: 10.1007/s10969-016-9211-3. Epub 2016 Dec 23.

11.

Cytogenetic analysis of spontaneously discharged products of conception by array-based comparative genomic hybridization.

Ozawa N, Sago H, Matsuoka K, Maruyama T, Migita O, Aizu Y, Inazawa J.

Springerplus. 2016 Jun 24;5(1):874. doi: 10.1186/s40064-016-2594-6. eCollection 2016.

12.

Human genetic variation database, a reference database of genetic variations in the Japanese population.

Higasa K, Miyake N, Yoshimura J, Okamura K, Niihori T, Saitsu H, Doi K, Shimizu M, Nakabayashi K, Aoki Y, Tsurusaki Y, Morishita S, Kawaguchi T, Migita O, Nakayama K, Nakashima M, Mitsui J, Narahara M, Hayashi K, Funayama R, Yamaguchi D, Ishiura H, Ko WY, Hata K, Nagashima T, Yamada R, Matsubara Y, Umezawa A, Tsuji S, Matsumoto N, Matsuda F.

J Hum Genet. 2016 Jun;61(6):547-53. doi: 10.1038/jhg.2016.12. Epub 2016 Feb 25.

13.

Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.

Yaoita M, Niihori T, Mizuno S, Okamoto N, Hayashi S, Watanabe A, Yokozawa M, Suzumura H, Nakahara A, Nakano Y, Hokosaki T, Ohmori A, Sawada H, Migita O, Mima A, Lapunzina P, Santos-Simarro F, García-Miñaúr S, Ogata T, Kawame H, Kurosawa K, Ohashi H, Inoue S, Matsubara Y, Kure S, Aoki Y.

Hum Genet. 2016 Feb;135(2):209-22. doi: 10.1007/s00439-015-1627-5. Epub 2015 Dec 29.

PMID:
26714497
14.

Novel Nonsense Mutation in the NLRP7 Gene Associated with Recurrent Hydatidiform Mole.

Ito Y, Maehara K, Kaneki E, Matsuoka K, Sugahara N, Miyata T, Kamura H, Yamaguchi Y, Kono A, Nakabayashi K, Migita O, Higashimoto K, Soejima H, Okamoto A, Nakamura H, Kimura T, Wake N, Taniguchi T, Hata K.

Gynecol Obstet Invest. 2016;81(4):353-8. doi: 10.1159/000441780. Epub 2015 Nov 26.

PMID:
26606510
15.

Compilation of copy number variants identified in phenotypically normal and parous Japanese women.

Migita O, Maehara K, Kamura H, Miyakoshi K, Tanaka M, Morokuma S, Fukushima K, Shimamoto T, Saito S, Sago H, Nishihama K, Abe K, Nakabayashi K, Umezawa A, Okamura K, Hata K.

J Hum Genet. 2014 Jun;59(6):326-31. doi: 10.1038/jhg.2014.27. Epub 2014 May 1.

PMID:
24785687
16.

Mechanisms of formation of structural variation in a fully sequenced human genome.

Pang AW, Migita O, Macdonald JR, Feuk L, Scherer SW.

Hum Mutat. 2013 Feb;34(2):345-54. doi: 10.1002/humu.22240. Epub 2012 Nov 19.

PMID:
23086744
17.

Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways.

Silversides CK, Lionel AC, Costain G, Merico D, Migita O, Liu B, Yuen T, Rickaby J, Thiruvahindrapuram B, Marshall CR, Scherer SW, Bassett AS.

PLoS Genet. 2012;8(8):e1002843. doi: 10.1371/journal.pgen.1002843. Epub 2012 Aug 9.

18.

Newborn screening for Pompe disease in Japan.

Oda E, Tanaka T, Migita O, Kosuga M, Fukushi M, Okumiya T, Osawa M, Okuyama T.

Mol Genet Metab. 2011 Dec;104(4):560-5. doi: 10.1016/j.ymgme.2011.09.002. Epub 2011 Sep 10.

PMID:
21963784
19.

Living-related liver transplantation for siblings with progressive familial intrahepatic cholestasis 2, with novel genetic findings.

Shimizu H, Migita O, Kosaki R, Kasahara M, Fukuda A, Sakamoto S, Shigeta T, Uemoto S, Nakazawa A, Kakiuchi T, Arai K.

Am J Transplant. 2011 Feb;11(2):394-8. doi: 10.1111/j.1600-6143.2010.03397.x. Epub 2011 Jan 10.

20.

A genome-wide scan for common alleles affecting risk for autism.

Anney R, Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Sykes N, Pagnamenta AT, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Carson AR, Casallo G, Casey J, Chu SH, Cochrane L, Corsello C, Crawford EL, Crossett A, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Melhem NM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Piven J, Posey DJ, Poustka A, Poustka F, Prasad A, Ragoussis J, Renshaw K, Rickaby J, Roberts W, Roeder K, Roge B, Rutter ML, Bierut LJ, Rice JP, Salt J, Sansom K, Sato D, Segurado R, Senman L, Shah N, Sheffield VC, Soorya L, Sousa I, Stoppioni V, Strawbridge C, Tancredi R, Tansey K, Thiruvahindrapduram B, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Wallace S, Wang K, Wang Z, Wassink TH, Wing K, Wittemeyer K, Wood S, Yaspan BL, Zurawiecki D, Zwaigenbaum L, Betancur C, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Gallagher L, Geschwind DH, Gill M, Haines JL, Miller J, Monaco AP, Nurnberger JI Jr, Paterson AD, Pericak-Vance MA, Schellenberg GD, Scherer SW, Sutcliffe JS, Szatmari P, Vicente AM, Vieland VJ, Wijsman EM, Devlin B, Ennis S, Hallmayer J.

Hum Mol Genet. 2010 Oct 15;19(20):4072-82. doi: 10.1093/hmg/ddq307. Epub 2010 Jul 27.

21.

Functional impact of global rare copy number variation in autism spectrum disorders.

Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Almeida J, Bacchelli E, Bader GD, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Bryson SE, Carson AR, Casallo G, Casey J, Chung BH, Cochrane L, Corsello C, Crawford EL, Crossett A, Cytrynbaum C, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green A, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Pilorge M, Piven J, Ponting CP, Posey DJ, Poustka A, Poustka F, Prasad A, Ragoussis J, Renshaw K, Rickaby J, Roberts W, Roeder K, Roge B, Rutter ML, Bierut LJ, Rice JP, Salt J, Sansom K, Sato D, Segurado R, Sequeira AF, Senman L, Shah N, Sheffield VC, Soorya L, Sousa I, Stein O, Sykes N, Stoppioni V, Strawbridge C, Tancredi R, Tansey K, Thiruvahindrapduram B, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Wallace S, Wang K, Wang Z, Wassink TH, Webber C, Weksberg R, Wing K, Wittemeyer K, Wood S, Wu J, Yaspan BL, Zurawiecki D, Zwaigenbaum L, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Devlin B, Ennis S, Gallagher L, Geschwind DH, Gill M, Haines JL, Hallmayer J, Miller J, Monaco AP, Nurnberger JI Jr, Paterson AD, Pericak-Vance MA, Schellenberg GD, Szatmari P, Vicente AM, Vieland VJ, Wijsman EM, Scherer SW, Sutcliffe JS, Betancur C.

Nature. 2010 Jul 15;466(7304):368-72. doi: 10.1038/nature09146. Epub 2010 Jun 9.

22.

Two distinctive classic genetic syndromes, 22q11.2 deletion syndrome and Angelman syndrome, occurring within the same family.

Kosaki R, Migita O, Takahashi T, Kosaki K.

Am J Med Genet A. 2009 Feb 15;149A(4):702-5. doi: 10.1002/ajmg.a.32666.

PMID:
19288551
23.

The CASK gene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation.

Hayashi S, Mizuno S, Migita O, Okuyama T, Makita Y, Hata A, Imoto I, Inazawa J.

Am J Med Genet A. 2008 Aug 15;146A(16):2145-51. doi: 10.1002/ajmg.a.32433.

PMID:
18629876
24.

Monozygotic twins of Smith-Magenis syndrome.

Kosaki R, Okuyama T, Tanaka T, Migita O, Kosaki K.

Am J Med Genet A. 2007 Apr 1;143A(7):768-9. No abstract available.

PMID:
17345621
25.

[Disorders of pituitary gland development].

Migita O, Umezawa A.

Nihon Rinsho. 2006 May 28;Suppl 1:206-11. Review. Japanese. No abstract available.

PMID:
16776128
26.

Determination of structure and transcriptional regulation of CYSLTR1 and an association study with asthma and rhinitis.

Zhang J, Migita O, Koga M, Shibasaki M, Arinami T, Noguchi E.

Pediatr Allergy Immunol. 2006 Jun;17(4):242-9.

PMID:
16771777
27.

Haplotype analysis of a 100 kb region spanning TNF-LTA identifies a polymorphism in the LTA promoter region that is associated with atopic asthma susceptibility in Japan.

Migita O, Noguchi E, Koga M, Jian Z, Shibasaki M, Migita T, Ito S, Ichikawa K, Matsui A, Arinami T.

Clin Exp Allergy. 2005 Jun;35(6):790-6.

PMID:
15969671
28.

Association of a haplotype block spanning SDAD1 gene and CXC chemokine genes with allergic rhinitis.

Zhang J, Noguchi E, Migita O, Yokouchi Y, Nakayama J, Shibasaki M, Arinami T.

J Allergy Clin Immunol. 2005 Mar;115(3):548-54.

PMID:
15753903
29.

Association between a polymorphism in cysteinyl leukotriene receptor 2 on chromosome 13q14 and atopic asthma.

Fukai H, Ogasawara Y, Migita O, Koga M, Ichikawa K, Shibasaki M, Arinami T, Noguchi E.

Pharmacogenetics. 2004 Oct;14(10):683-90.

PMID:
15454733
30.

ADRB2 polymorphisms and asthma susceptibility: transmission disequilibrium test and meta-analysis.

Migita O, Noguchi E, Jian Z, Shibasaki M, Migita T, Ichikawa K, Matsui A, Arinami T.

Int Arch Allergy Immunol. 2004 Jun;134(2):150-7. Epub 2004 May 19.

PMID:
15153795
31.
32.

Association of ZNF74 gene genotypes with age-at-onset of schizophrenia.

Takase K, Ohtsuki T, Migita O, Toru M, Inada T, Yamakawa-Kobayashi K, Arinami T.

Schizophr Res. 2001 Dec 1;52(3):161-5.

PMID:
11705709

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