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Items: 1 to 50 of 391

1.

Utility of a diffusion kurtosis model in the differential diagnosis of orofacial tumours.

Panyarak W, Chikui T, Tokumori K, Yamashita Y, Kamitani T, Togao O, Yoshiura K.

Clin Radiol. 2020 Feb 15. pii: S0009-9260(20)30043-X. doi: 10.1016/j.crad.2020.01.008. [Epub ahead of print]

PMID:
32067698
2.

Possible mitochondrial dysfunction in a patient with deafness, dystonia, and cerebral hypomyelination (DDCH) due to BCAP31 Mutation.

Shimizu K, Oba D, Nambu R, Tanaka M, Oguma E, Murayama K, Ohtake A, Yoshiura KI, Ohashi H.

Mol Genet Genomic Med. 2020 Jan 17:e1129. doi: 10.1002/mgg3.1129. [Epub ahead of print]

3.

KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup).

Hamaguchi Y, Aoki M, Watanabe S, Mishima H, Yoshiura KI, Moriuchi H, Dateki S.

Hum Genome Var. 2019 Dec 13;6:54. doi: 10.1038/s41439-019-0085-3. eCollection 2019.

4.

Usefulness of a deep learning system for diagnosing Sjögren's syndrome using ultrasonography images.

Kise Y, Shimizu M, Ikeda H, Fujii T, Kuwada C, Nishiyama M, Funakoshi T, Ariji Y, Fujita H, Katsumata A, Yoshiura K, Ariji E.

Dentomaxillofac Radiol. 2020 Mar;49(3):20190348. doi: 10.1259/dmfr.20190348. Epub 2019 Dec 11.

PMID:
31804146
5.

Impact of sensory impairments on dementia incidence and symptoms among Japanese older adults.

Maruta M, Tabira T, Sagari A, Miyata H, Yoshimitsu K, Han G, Yoshiura K, Matsuo T, Kawagoe M.

Psychogeriatrics. 2019 Dec 4. doi: 10.1111/psyg.12494. [Epub ahead of print]

PMID:
31799771
6.

Atypical phenotype without fever in a Japanese family with an autosomal dominant transmission of familial Mediterranean fever due to heterozygous MEFV Thr577Asn mutations.

Endo Y, Koga T, Nakashima M, Mishima H, Yoshiura KI, Kawakami A.

Clin Exp Rheumatol. 2019 Nov-Dec;37 Suppl 121(6):161-162. Epub 2019 Sep 23. No abstract available.

7.

Cystic biliary atresia with paucity of bile ducts and gene mutation in KDM6A: a case report.

Masui D, Fukahori S, Mizuochi T, Watanabe Y, Fukui K, Ishii S, Saikusa N, Hashizume N, Higashidate N, Sakamoto S, Takato A, Yoshiura KI, Tanaka Y, Yagi M.

Surg Case Rep. 2019 Aug 14;5(1):132. doi: 10.1186/s40792-019-0688-4.

8.

Instrumental Activities of Daily Living: The Processes Involved in and Performance of These Activities by Japanese Community-Dwelling Older Adults with Subjective Memory Complaints.

Ikeda Y, Ogawa N, Yoshiura K, Han G, Maruta M, Hotta M, Tabira T.

Int J Environ Res Public Health. 2019 Jul 23;16(14). pii: E2617. doi: 10.3390/ijerph16142617.

9.

Target Capture/Next-Generation Sequencing for Nonsyndromic Cleft Lip and Palate in the Japanese Population.

Shibano M, Watanabe A, Takano N, Mishima H, Kinoshita A, Yoshiura KI, Shibahara T.

Cleft Palate Craniofac J. 2020 Jan;57(1):80-87. doi: 10.1177/1055665619857650. Epub 2019 Jul 23.

PMID:
31337262
10.

The missing link in image quality assessment in digital dental radiography.

Okamura K, Yoshiura K.

Oral Radiol. 2019 Jul 13. doi: 10.1007/s11282-019-00396-z. [Epub ahead of print] Review.

PMID:
31302866
11.

TERT mRNA Expression as a Novel Prognostic Marker in Papillary Thyroid Carcinomas.

Tanaka A, Matsuse M, Saenko V, Nakao T, Yamanouchi K, Sakimura C, Yano H, Nishihara E, Hirokawa M, Suzuki K, Miyauchi A, Eguchi S, Yoshiura KI, Yamashita S, Nagayasu T, Mitsutake N.

Thyroid. 2019 Aug;29(8):1105-1114. doi: 10.1089/thy.2018.0695. Epub 2019 Aug 5.

PMID:
31286848
12.

Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan.

Mishima H, Suzuki H, Doi M, Miyazaki M, Watanabe S, Matsumoto T, Morifuji K, Moriuchi H, Yoshiura KI, Kondoh T, Kosaki K.

J Hum Genet. 2019 Aug;64(8):789-794. doi: 10.1038/s10038-019-0619-z. Epub 2019 May 29.

PMID:
31138847
13.

Genome analysis of myelodysplastic syndromes among atomic bomb survivors in Nagasaki.

Taguchi M, Mishima H, Shiozawa Y, Hayashida C, Kinoshita A, Nannya Y, Makishima H, Horai M, Matsuo M, Sato S, Itonaga H, Kato T, Taniguchi H, Imanishi D, Imaizumi Y, Hata T, Takenaka M, Moriuchi Y, Shiraishi Y, Miyano S, Ogawa S, Yoshiura KI, Miyazaki Y.

Haematologica. 2020 Jan 31;105(2):358-365. doi: 10.3324/haematol.2019.219386. Print 2020.

14.

Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities.

Morimoto Y, Yoshida S, Kinoshita A, Satoh C, Mishima H, Yamaguchi N, Matsuda K, Sakaguchi M, Tanaka T, Komohara Y, Imamura A, Ozawa H, Nakashima M, Kurotaki N, Kishino T, Yoshiura KI, Ono S.

Neurology. 2019 May 14;92(20):e2364-e2374. doi: 10.1212/WNL.0000000000007505. Epub 2019 Apr 19.

15.

Impact of Outpatient Rehabilitation Service in Preventing the Deterioration of the Care-Needs Level Among Japanese Older Adults Availing Long-Term Care Insurance: A Propensity Score Matched Retrospective Study.

Maruta M, Tabira T, Makizako H, Sagari A, Miyata H, Yoshimitsu K, Han G, Yoshiura K, Kawagoe M.

Int J Environ Res Public Health. 2019 Apr 10;16(7). pii: E1292. doi: 10.3390/ijerph16071292.

16.

Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome.

Shimizu H, Watanabe S, Kinoshita A, Mishima H, Nishimura G, Moriuchi H, Yoshiura KI, Dateki S.

J Hum Genet. 2019 May;64(5):467-471. doi: 10.1038/s10038-019-0581-9. Epub 2019 Feb 22.

PMID:
30796325
17.

Identification of a novel CCDC22 mutation in a patient with severe Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis and aggressive natural killer cell leukemia.

Yamashita Y, Nishikawa A, Iwahashi Y, Fujimoto M, Sasaki I, Mishima H, Kinoshita A, Hemmi H, Kanazawa N, Ohshima K, Imadome KI, Murata SI, Yoshiura KI, Kaisho T, Sonoki T, Tamura S.

Int J Hematol. 2019 Jun;109(6):744-750. doi: 10.1007/s12185-019-02595-0. Epub 2019 Jan 31.

PMID:
30706328
18.

A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiency.

Dateki S, Watanabe S, Mishima H, Shirakawa T, Morikawa M, Kinoshita E, Yoshiura KI, Moriuchi H.

J Hum Genet. 2019 Apr;64(4):341-346. doi: 10.1038/s10038-019-0566-8. Epub 2019 Jan 28.

PMID:
30692597
19.

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.

Am J Med Genet A. 2018 Dec;176(12):2614-2622. doi: 10.1002/ajmg.a.40670. Epub 2018 Dec 21.

PMID:
30575289
20.

Image Quality and ADC Assessment in Turbo Spin-Echo and Echo-Planar Diffusion-Weighted MR Imaging of Tumors of the Head and Neck.

Panyarak W, Chikui T, Yamashita Y, Kamitani T, Yoshiura K.

Acad Radiol. 2019 Oct;26(10):e305-e316. doi: 10.1016/j.acra.2018.11.016. Epub 2018 Dec 6.

PMID:
30528753
21.

Comprehensive methylation analysis of imprinting-associated differentially methylated regions in colorectal cancer.

Hidaka H, Higashimoto K, Aoki S, Mishima H, Hayashida C, Maeda T, Koga Y, Yatsuki H, Joh K, Noshiro H, Iwakiri R, Kawaguchi A, Yoshiura KI, Fujimoto K, Soejima H.

Clin Epigenetics. 2018 Dec 4;10(1):150. doi: 10.1186/s13148-018-0578-9.

22.

Determination of optimum exposure parameters for dentoalveolar structures of the jaws using the CB MercuRay system with cluster signal-to-noise analysis.

Weerawanich W, Shimizu M, Takeshita Y, Okamura K, Yoshida S, Jasa GR, Yoshiura K.

Oral Radiol. 2019 Sep;35(3):260-271. doi: 10.1007/s11282-018-0348-6. Epub 2018 Sep 14.

PMID:
30484205
23.

Evaluation of cone-beam computed tomography diagnostic image quality using cluster signal-to-noise analysis.

Weerawanich W, Shimizu M, Takeshita Y, Okamura K, Yoshida S, Jasa GR, Yoshiura K.

Oral Radiol. 2019 Jan;35(1):59-67. doi: 10.1007/s11282-018-0325-0. Epub 2018 Mar 15.

PMID:
30484183
24.

Identification of a variant associated with early-onset diabetes in the intron of the insulin gene with exome sequencing.

Matsuno S, Furuta H, Kosaka K, Doi A, Yorifuji T, Fukuda T, Senmaru T, Uraki S, Matsutani N, Furuta M, Mishima H, Iwakura H, Nishi M, Yoshiura K, Fukui M, Akamizu T.

J Diabetes Investig. 2019 Jul;10(4):947-950. doi: 10.1111/jdi.12974. Epub 2018 Dec 5.

25.

A Novel Association between the 27-bp Deletion and 538G>A Mutation in the ABCC11 Gene.

Hori YS, Yamada A, Matsuda N, Ono Y, Starenki D, Sosonkina N, Yoshiura KI, Niikawa N, Ohta T.

Hum Biol. 2017 Oct;89(4):305-307.

PMID:
30047321
26.

Auto-immune disorders in a child with PIK3CD variant and 22q13 deletion.

Kiyota K, Yoshiura KI, Houbara R, Miyahara H, Korematsu S, Ihara K.

Eur J Med Genet. 2018 Oct;61(10):631-633. doi: 10.1016/j.ejmg.2018.04.008. Epub 2018 Apr 17.

PMID:
29673649
27.

Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome.

Dateki S, Kitajima T, Kihara T, Watanabe S, Yoshiura KI, Moriuchi H.

Hum Genome Var. 2018 Mar 29;5:18014. doi: 10.1038/hgv.2018.14. eCollection 2018.

28.

Reference values for circulating pregnancy-associated microRNAs in maternal plasma and their clinical usefulness in uncomplicated pregnancy and hypertensive disorder of pregnancy.

Murakami Y, Miura K, Sato S, Higashijima A, Hasegawa Y, Miura S, Yoshiura KI, Masuzaki H.

J Obstet Gynaecol Res. 2018 May;44(5):840-851. doi: 10.1111/jog.13610. Epub 2018 Mar 8.

PMID:
29516574
29.

Clonal dynamics in a case of acute monoblastic leukemia that later developed myeloproliferative neoplasm.

Sato S, Itonaga H, Taguchi M, Sawayama Y, Imanishi D, Tsushima H, Hata T, Moriuchi Y, Mishima H, Kinoshita A, Yoshiura KI, Miyazaki Y.

Int J Hematol. 2018 Aug;108(2):213-217. doi: 10.1007/s12185-018-2419-1. Epub 2018 Feb 7.

PMID:
29417354
30.

Whole-exome sequencing and gene-based rare variant association tests suggest that PLA2G4E might be a risk gene for panic disorder.

Morimoto Y, Shimada-Sugimoto M, Otowa T, Yoshida S, Kinoshita A, Mishima H, Yamaguchi N, Mori T, Imamura A, Ozawa H, Kurotaki N, Ziegler C, Domschke K, Deckert J, Umekage T, Tochigi M, Kaiya H, Okazaki Y, Tokunaga K, Sasaki T, Yoshiura KI, Ono S.

Transl Psychiatry. 2018 Feb 2;8(1):41. doi: 10.1038/s41398-017-0088-0.

31.

Prediction of detectability of the mandibular canal by quantitative image quality evaluation using cone beam CT.

Takeshita Y, Shimizu M, Jasa GR, Weerawanich W, Okamura K, Yoshida S, Tokumori K, Asaumi J, Yoshiura K.

Dentomaxillofac Radiol. 2018 May;47(4):20170369. doi: 10.1259/dmfr.20170369. Epub 2018 Feb 13.

32.

Estimation of proton density fat fraction of the salivary gland.

Chikui T, Yamashita Y, Kise Y, Saito T, Okamura K, Yoshiura K.

Br J Radiol. 2018 May;91(1085):20170671. doi: 10.1259/bjr.20170671. Epub 2018 Feb 6.

33.

A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome.

Motokawa M, Watanabe S, Nakatomi A, Kondoh T, Matsumoto T, Morifuji K, Sawada H, Nishimura T, Nunoi H, Yoshiura KI, Moriuchi H, Dateki S.

J Hum Genet. 2018 Mar;63(3):387-390. doi: 10.1038/s10038-017-0396-5. Epub 2018 Jan 15.

PMID:
29335451
34.

A novel heterozygous GLI2 mutation in a patient with congenital urethral stricture and renal hypoplasia/dysplasia leading to end-stage renal failure.

Shirakawa T, Nakashima Y, Watanabe S, Harada S, Kinoshita M, Kihara T, Hamasaki Y, Shishido S, Yoshiura KI, Moriuchi H, Dateki S.

CEN Case Rep. 2018 May;7(1):94-97. doi: 10.1007/s13730-018-0302-9. Epub 2018 Jan 9.

35.

MicroRNA-204-3p inhibits lipopolysaccharide-induced cytokines in familial Mediterranean fever via the phosphoinositide 3-kinase γ pathway.

Koga T, Migita K, Sato T, Sato S, Umeda M, Nonaka F, Fukui S, Kawashiri SY, Iwamoto N, Ichinose K, Tamai M, Nakamura H, Origuchi T, Ueki Y, Masumoto J, Agematsu K, Yachie A, Yoshiura KI, Eguchi K, Kawakami A.

Rheumatology (Oxford). 2018 Apr 1;57(4):718-726. doi: 10.1093/rheumatology/kex451.

PMID:
29294109
36.

Detection of de novo single nucleotide variants in offspring of atomic-bomb survivors close to the hypocenter by whole-genome sequencing.

Horai M, Mishima H, Hayashida C, Kinoshita A, Nakane Y, Matsuo T, Tsuruda K, Yanagihara K, Sato S, Imanishi D, Imaizumi Y, Hata T, Miyazaki Y, Yoshiura KI.

J Hum Genet. 2018 Mar;63(3):357-363. doi: 10.1038/s10038-017-0392-9. Epub 2017 Dec 26.

PMID:
29279608
37.

Chromosomal analysis of myelodysplastic syndromes among atomic bomb survivors in Nagasaki.

Horai M, Satoh S, Matsuo M, Iwanaga M, Horio K, Jo T, Takasaki Y, Kawaguchi Y, Tsushima H, Yoshida S, Taguchi M, Itonaga H, Sawayama Y, Taguchi J, Imaizumi Y, Hata T, Moriuchi Y, Haase D, Yoshiura KI, Miyazaki Y.

Br J Haematol. 2018 Feb;180(3):381-390. doi: 10.1111/bjh.15050. Epub 2017 Dec 19.

PMID:
29265181
38.

Fundamental Tongue Motions for Trumpet Playing: A Study Using Cine Magnetic Resonance Imaging (Cine MRI).

Furuhashi H, Chikui T, Inadomi D, Shiraishi T, Yoshiura K.

Med Probl Perform Art. 2017 Dec;32(4):201-208. doi: 10.21091/mppa.2017.4038.

PMID:
29231953
39.

One-Shot Multiple Borylation toward BN-Doped Nanographenes.

Matsui K, Oda S, Yoshiura K, Nakajima K, Yasuda N, Hatakeyama T.

J Am Chem Soc. 2018 Jan 31;140(4):1195-1198. doi: 10.1021/jacs.7b10578. Epub 2017 Nov 9.

PMID:
29120174
40.

Two consecutive successful live birth in woman with 17α hydroxylase deficiency by frozen-thaw embryo transfer under hormone replacement endometrium preparation.

Kitajima M, Miura K, Inoue T, Murakami Y, Kitajima Y, Murakami N, Taniguchi K, Yoshiura KI, Masuzaki H.

Gynecol Endocrinol. 2018 May;34(5):381-384. doi: 10.1080/09513590.2017.1393512. Epub 2017 Oct 25.

PMID:
29068264
41.

Effects of HLA-DRB1 alleles on susceptibility and clinical manifestations in Japanese patients with adult onset Still's disease.

Asano T, Furukawa H, Sato S, Yashiro M, Kobayashi H, Watanabe H, Suzuki E, Ito T, Ubara Y, Kobayashi D, Iwanaga N, Izumi Y, Fujikawa K, Yamasaki S, Nakamura T, Koga T, Shimizu T, Umeda M, Nonaka F, Yasunami M, Ueki Y, Eguchi K, Tsuchiya N, Tohma S, Yoshiura KI, Ohira H, Kawakami A, Migita K.

Arthritis Res Ther. 2017 Sep 12;19(1):199. doi: 10.1186/s13075-017-1406-x.

42.

Deep sequencing reveals variations in somatic cell mosaic mutations between monozygotic twins with discordant psychiatric disease.

Morimoto Y, Ono S, Imamura A, Okazaki Y, Kinoshita A, Mishima H, Nakane H, Ozawa H, Yoshiura KI, Kurotaki N.

Hum Genome Var. 2017 Jul 27;4:17032. doi: 10.1038/hgv.2017.32. eCollection 2017.

43.

Cluster signal-to-noise analysis for evaluation of the information content in an image.

Weerawanich W, Shimizu M, Takeshita Y, Okamura K, Yoshida S, Yoshiura K.

Dentomaxillofac Radiol. 2018 Jan;47(1):20170147. doi: 10.1259/dmfr.20170147. Epub 2017 Dec 11.

44.

Postmortem genetic analysis of sudden unexpected death in infancy: neonatal genetic screening may enable the prevention of sudden infant death.

Oshima Y, Yamamoto T, Ishikawa T, Mishima H, Matsusue A, Umehara T, Murase T, Abe Y, Kubo SI, Yoshiura KI, Makita N, Ikematsu K.

J Hum Genet. 2017 Nov;62(11):989-995. doi: 10.1038/jhg.2017.79. Epub 2017 Jul 27.

PMID:
28747690
45.

Clinical usefulness of the mDIXON Quant the method for estimation of the salivary gland fat fraction: comparison with MR spectroscopy.

Kise Y, Chikui T, Yamashita Y, Kobayashi K, Yoshiura K.

Br J Radiol. 2017 Aug;90(1077):20160704. doi: 10.1259/bjr.20160704. Epub 2017 Jul 14.

46.

Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 Mutation.

Seki A, Ishikawa T, Daumy X, Mishima H, Barc J, Sasaki R, Nishii K, Saito K, Urano M, Ohno S, Otsuki S, Kimoto H, Baruteau AE, Thollet A, Fouchard S, Bonnaud S, Parent P, Shibata Y, Perrin JP, Le Marec H, Hagiwara N, Mercier S, Horie M, Probst V, Yoshiura KI, Redon R, Schott JJ, Makita N.

J Am Coll Cardiol. 2017 Jul 18;70(3):358-370. doi: 10.1016/j.jacc.2017.05.039. Erratum in: J Am Coll Cardiol. 2017 Aug 29;70(9):1201.

47.

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L, Jones TI, Erdin S, Williamson KA, Rainger J, Stortchevoi A, Samocha K, Currall BB, Dunican DS, Collins RL, Willer JR, Lek A, Lek M, Nassan M, Pereira S, Kammin T, Lucente D, Silva A, Seabra CM, Chiang C, An Y, Ansari M, Rainger JK, Joss S, Smith JC, Lippincott MF, Singh SS, Patel N, Jing JW, Law JR, Ferraro N, Verloes A, Rauch A, Steindl K, Zweier M, Scheer I, Sato D, Okamoto N, Jacobsen C, Tryggestad J, Chernausek S, Schimmenti LA, Brasseur B, Cesaretti C, García-Ortiz JE, Buitrago TP, Silva OP, Hoffman JD, Mühlbauer W, Ruprecht KW, Loeys BL, Shino M, Kaindl AM, Cho CH, Morton CC, Meehan RR, van Heyningen V, Liao EC, Balasubramanian R, Hall JE, Seminara SB, Macarthur D, Moore SA, Yoshiura KI, Gusella JF, Marsh JA, Graham JM Jr, Lin AE, Katsanis N, Jones PL, Crowley WF Jr, Davis EE, FitzPatrick DR, Talkowski ME.

Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969c. No abstract available.

PMID:
28546579
48.

Fetiform teratoma was a parthenogenetic tumor arising from a mature ovum.

Miura K, Kurabayashi T, Satoh C, Sasaki K, Ishiguro T, Yoshiura KI, Masuzaki H.

J Hum Genet. 2017 Sep;62(9):803-808. doi: 10.1038/jhg.2017.45. Epub 2017 Apr 27.

PMID:
28446797
49.

Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation.

Dateki S, Nakatomi A, Watanabe S, Shimizu H, Inoue Y, Baba H, Yoshiura KI, Moriuchi H.

J Hum Genet. 2017 Jul;62(7):717-721. doi: 10.1038/jhg.2017.33. Epub 2017 Mar 23.

PMID:
28331218
50.

Intermediate Phenotype between ADULT Syndrome and EEC Syndrome Caused by R243Q Mutation in TP63.

Otsuki Y, Ueda K, Satoh C, Maekawa R, Yoshiura KI, Iseki S.

Plast Reconstr Surg Glob Open. 2016 Dec 22;4(12):e1185. doi: 10.1097/GOX.0000000000001185. eCollection 2016 Dec.

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