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Items: 1 to 50 of 345

1.

Myogenin promoter-associated lncRNA Myoparr is essential for myogenic differentiation.

Hitachi K, Nakatani M, Takasaki A, Ouchi Y, Uezumi A, Ageta H, Inagaki H, Kurahashi H, Tsuchida K.

EMBO Rep. 2019 Jan 8. pii: e47468. doi: 10.15252/embr.201847468. [Epub ahead of print]

PMID:
30622218
2.

Exonic duplication of the OTC gene by a complex rearrangement that likely occurred via a replication-based mechanism: a case report.

Yokoi K, Nakajima Y, Inagaki H, Tsutsumi M, Ito T, Kurahashi H.

BMC Med Genet. 2018 Dec 12;19(1):210. doi: 10.1186/s12881-018-0733-3.

3.

Spatial Distribution of Forensically Significant Blow Flies in Subfamily Luciliinae (Diptera: Calliphoridae), Chiang Mai Province, Northern Thailand: Observations and Modeling Using GIS.

Klong-Klaew T, Ngoen-Klan R, Moophayak K, Sukontason K, Irvine KN, Tomberlin JK, Kurahashi H, Chareonviriyaphap T, Somboon P, Sukontason KL.

Insects. 2018 Dec 3;9(4). pii: E181. doi: 10.3390/insects9040181.

4.

FOXA2 gene mutation in a patient with congenital complex pituitary hormone deficiency.

Boda H, Miyata M, Inagaki H, Shinkai Y, Kato T, Yoshikawa T, Kurahashi H.

Eur J Med Genet. 2018 Nov 8. pii: S1769-7212(18)30408-7. doi: 10.1016/j.ejmg.2018.11.004. [Epub ahead of print]

PMID:
30414530
5.

A case of early onset life-threatening epilepsy associated with a novel ATP1A3 gene variant.

Ishihara N, Inagaki H, Miyake M, Kawamura Y, Yoshikawa T, Kurahashi H.

Brain Dev. 2018 Nov 1. pii: S0387-7604(18)30256-0. doi: 10.1016/j.braindev.2018.10.008. [Epub ahead of print]

PMID:
30392841
6.

A case of dihydropyrimidinase deficiency incidentally detected by urine metabolome analysis.

Tsuchiya H, Akiyama T, Kuhara T, Nakajima Y, Ohse M, Kurahashi H, Kato T, Maeda Y, Yoshinaga H, Kobayashi K.

Brain Dev. 2018 Oct 29. pii: S0387-7604(18)30381-4. doi: 10.1016/j.braindev.2018.10.005. [Epub ahead of print]

PMID:
30384990
7.

Compound heterozygous RYR1 mutations by whole exome sequencing in a family with three repeated affected fetuses with fetal akinesia.

Suzumori N, Inagaki H, Ohtani A, Kumagai K, Takeda E, Yoshihara H, Sawada Y, Inuzuka S, Iwagaki S, Takahashi Y, Kurahashi H, Sugiura-Ogasawara M.

Eur J Obstet Gynecol Reprod Biol. 2018 Nov;230:200-202. doi: 10.1016/j.ejogrb.2018.09.013. Epub 2018 Sep 12. No abstract available.

PMID:
30236493
8.

Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis.

Hayano S, Okuno Y, Tsutsumi M, Inagaki H, Fukasawa Y, Kurahashi H, Kojima S, Takahashi Y, Kato T.

Int J Cardiol. 2019 Jan 1;274:290-295. doi: 10.1016/j.ijcard.2018.09.032. Epub 2018 Sep 13.

PMID:
30228022
9.

Potential role for nectin-4 in the pathogenesis of pre-eclampsia: a molecular genetic study.

Ito M, Nishizawa H, Tsutsumi M, Kato A, Sakabe Y, Noda Y, Ohwaki A, Miyazaki J, Kato T, Shiogama K, Sekiya T, Kurahashi H, Fujii T.

BMC Med Genet. 2018 Sep 14;19(1):166. doi: 10.1186/s12881-018-0681-y.

10.

A constitutional jumping translocation involving the Y and acrocentric chromosomes.

Tsutsumi M, Fujita N, Suzuki F, Mishima T, Fujieda S, Watari M, Takahashi N, Tonoki H, Moriwaka O, Endo T, Kurahashi H.

Asian J Androl. 2018 Aug 17. doi: 10.4103/aja.aja_60_18. [Epub ahead of print] No abstract available.

11.

Predicting Geographic Distribution of Forensically Significant Blow Flies of Subfamily Chrysomyinae (Diptera: Calliphoridae) in Northern Thailand.

Klong-Klaew T, Ngoen-Klan R, Moophayak K, Sukontason K, Irvine KN, Tomberlin JK, Somboon P, Chareonviriyaphap T, Kurahashi H, Sukontason KL.

Insects. 2018 Aug 21;9(3). pii: E106. doi: 10.3390/insects9030106.

12.

Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy.

Katagiri S, Iwasa M, Hayashi T, Hosono K, Yamashita T, Kuniyoshi K, Ueno S, Kondo M, Ueyama H, Ogita H, Shichida Y, Inagaki H, Kurahashi H, Kondo H, Ohji M, Hotta Y, Nakano T.

Sci Rep. 2018 Jul 31;8(1):11507. doi: 10.1038/s41598-018-29891-9.

13.

The effects of antihistamines on the semiology of febrile seizures.

Takasu M, Kubota T, Tsuji T, Kurahashi H, Numoto S, Okumura A.

Brain Dev. 2019 Jan;41(1):72-76. doi: 10.1016/j.braindev.2018.07.005. Epub 2018 Jul 29.

PMID:
30064732
14.

Two siblings with 11qter deletion syndrome that had been rescued in their mother by uniparental disomy.

Kawai M, Tsutsumi M, Suzuki F, Sameshima K, Dowa Y, Kyoya T, Inagaki H, Kurahashi H.

Eur J Med Genet. 2019 Mar;62(3):224-228. doi: 10.1016/j.ejmg.2018.07.018. Epub 2018 Jul 18.

PMID:
30031150
15.

DNA methylation accumulation in gastric mucosa adjacent to cancer after Helicobacter pylori eradication.

Tahara S, Tahara T, Horiguchi N, Kato T, Shinkai Y, Yamashita H, Yamada H, Kawamura T, Terada T, Okubo M, Nagasaka M, Nakagawa Y, Shibata T, Yamada S, Urano M, Tsukamoto T, Kurahashi H, Kuroda M, Ohmiya N.

Int J Cancer. 2019 Jan 1;144(1):80-88. doi: 10.1002/ijc.31667. Epub 2018 Nov 12.

PMID:
29978464
16.

A patient with a GNAO1 mutation with decreased spontaneous movements, hypotonia, and dystonic features.

Okumura A, Maruyama K, Shibata M, Kurahashi H, Ishii A, Numoto S, Hirose S, Kawai T, Iso M, Kataoka S, Okuno Y, Muramatsu H, Kojima S.

Brain Dev. 2018 Nov;40(10):926-930. doi: 10.1016/j.braindev.2018.06.005. Epub 2018 Jun 21.

PMID:
29935962
17.

Potentially effective method for fetal gender determination by noninvasive prenatal testing for X-linked disease.

Noda Y, Kato T, Kato A, Nishizawa H, Miyazaki J, Ito M, Terasawa S, Sekiya T, Fujii T, Kurahashi H.

Congenit Anom (Kyoto). 2018 Jun 21. doi: 10.1111/cga.12302. [Epub ahead of print]

PMID:
29926512
18.

Chromosomally integrated human herpesvirus 6 in the Japanese population.

Miura H, Kawamura Y, Hattori F, Kozawa K, Ihira M, Ohye T, Kurahashi H, Yoshikawa T.

J Med Virol. 2018 Oct;90(10):1636-1642. doi: 10.1002/jmv.25244. Epub 2018 Jul 10.

PMID:
29905966
19.

Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery.

Kumar R, Gardner A, Homan CC, Douglas E, Mefford H, Wieczorek D, Lüdecke HJ, Stark Z, Sadedin S; Broad CMG, Nowak CB, Douglas J, Parsons G, Mark P, Loidi L, Herman GE, Mihalic Mosher T, Gillespie MK, Brady L, Tarnopolsky M, Madrigal I, Eiris J, Domènech Salgado L, Rabionet R, Strom TM, Ishihara N, Inagaki H, Kurahashi H, Dudding-Byth T, Palmer EE, Field M, Gecz J.

Hum Mutat. 2018 Aug;39(8):1126-1138. doi: 10.1002/humu.23557. Epub 2018 Jun 14.

PMID:
29851191
20.

A rare case of fetal extensive intracranial hemorrhage and whole-cerebral hypoplasia due to latent maternal vitamin K deficiency.

Goto T, Kakita H, Takasu M, Takeshita S, Ueda H, Muto D, Kondo T, Kurahashi H, Okumura A, Yamada Y.

J Neonatal Perinatal Med. 2018;11(2):191-194. doi: 10.3233/NPM-181745.

PMID:
29843264
21.

Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion.

Yokoi K, Nakajima Y, Ohye T, Inagaki H, Wada Y, Fukuda T, Sugie H, Yuasa I, Ito T, Kurahashi H.

JIMD Rep. 2018 May 12. doi: 10.1007/8904_2018_108. [Epub ahead of print]

22.

[Durable remission attained with rituximab therapy in a patient with acquired von Willebrand syndrome associated with CD20-positive lymphoproliferative disorder].

Kurahashi H, Kawabata Y, Michishita Y, Kitabayashi A, Kobayashi T, Kitadate A, Takahashi N.

Rinsho Ketsueki. 2018;59(4):420-425. doi: 10.11406/rinketsu.59.420. Japanese.

PMID:
29743402
23.

Lethal persistent pulmonary hypertension of the newborn in Bohring-Opitz syndrome.

Kibe M, Ibara S, Inagaki H, Kato T, Kurahashi H, Ikeda T.

Am J Med Genet A. 2018 May;176(5):1245-1248. doi: 10.1002/ajmg.a.38681.

PMID:
29681105
24.

Prenatal diagnosis of premature chromatid separation/mosaic variegated aneuploidy (PCS/MVA) syndrome.

Yamaguchi T, Yamaguchi M, Akeno K, Fujisaki M, Sumiyoshi K, Ohashi M, Sameshima H, Ozaki M, Kato M, Kato T, Hosoba E, Kurahashi H.

J Obstet Gynaecol Res. 2018 Jul;44(7):1313-1317. doi: 10.1111/jog.13647. Epub 2018 Apr 19.

PMID:
29673003
25.

Interaction of carbon monoxide-releasing ruthenium carbonyl CORM-3 with plasma fibronectin.

Aki T, Unuma K, Noritake K, Kurahashi H, Funakoshi T, Uemura K.

Toxicol In Vitro. 2018 Aug;50:201-209. doi: 10.1016/j.tiv.2018.03.010. Epub 2018 Mar 23.

PMID:
29580987
26.

Clinical Consequences of Chromothripsis and Other Catastrophic Cellular Events.

Fukami M, Kurahashi H.

Methods Mol Biol. 2018;1769:21-33. doi: 10.1007/978-1-4939-7780-2_2. Review.

PMID:
29564815
27.

Multiplex PCR in noninvasive prenatal diagnosis for FGFR3-related disorders.

Terasawa S, Kato A, Nishizawa H, Kato T, Yoshizawa H, Noda Y, Miyazaki J, Ito M, Sekiya T, Fujii T, Kurahashi H.

Congenit Anom (Kyoto). 2019 Jan;59(1):4-10. doi: 10.1111/cga.12278. Epub 2018 Apr 15.

PMID:
29542187
28.

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy.

Kurahashi H, Hirose S.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2002 May 16 [updated 2018 Mar 15].

29.

Twin pregnancy with chromosomal abnormalities mimicking a gestational trophoblastic disorder and coexistent foetus on ultrasound.

Ohwaki A, Nishizawa H, Aida N, Kato T, Kambayashi A, Miyazaki J, Ito M, Urano M, Kiriyama Y, Kuroda M, Nakayama M, Sonta SI, Suzumori K, Sekiya T, Kurahashi H, Fujii T.

J Obstet Gynaecol. 2018 Oct;38(7):1023-1025. doi: 10.1080/01443615.2017.1401598. Epub 2018 Mar 9. No abstract available.

PMID:
29523025
30.

Molecular basis for diversification of yeast prion strain conformation.

Ohhashi Y, Yamaguchi Y, Kurahashi H, Kamatari YO, Sugiyama S, Uluca B, Piechatzek T, Komi Y, Shida T, Müller H, Hanashima S, Heise H, Kuwata K, Tanaka M.

Proc Natl Acad Sci U S A. 2018 Mar 6;115(10):2389-2394. doi: 10.1073/pnas.1715483115. Epub 2018 Feb 21.

31.

Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders.

Mizuguchi T, Nakashima M, Kato M, Okamoto N, Kurahashi H, Ekhilevitch N, Shiina M, Nishimura G, Shibata T, Matsuo M, Ikeda T, Ogata K, Tsuchida N, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Hata K, Kaname T, Matsubara Y, Saitsu H, Matsumoto N.

Hum Mol Genet. 2018 Apr 15;27(8):1421-1433. doi: 10.1093/hmg/ddy052.

PMID:
29432562
32.

MYRF is associated with encephalopathy with reversible myelin vacuolization.

Kurahashi H, Azuma Y, Masuda A, Okuno T, Nakahara E, Imamura T, Saitoh M, Mizuguchi M, Shimizu T, Ohno K, Okumura A.

Ann Neurol. 2018 Jan;83(1):98-106. doi: 10.1002/ana.25125. Epub 2018 Jan 14.

PMID:
29265453
33.

Two patients with PNKP mutations presenting with microcephaly, seizure, and oculomotor apraxia.

Taniguchi-Ikeda M, Morisada N, Inagaki H, Ouchi Y, Takami Y, Tachikawa M, Satake W, Kobayashi K, Tsuneishi S, Takada S, Yamaguchi H, Nagase H, Nozu K, Okamoto N, Nishio H, Toda T, Morioka I, Wada H, Kurahashi H, Iijima K.

Clin Genet. 2018 Apr;93(4):931-933. doi: 10.1111/cge.13106. Epub 2017 Dec 15. No abstract available.

PMID:
29243230
34.

Remote intracranial recurrence of IDH mutant gliomas is associated with TP53 mutations and an 8q gain.

Nakae S, Kato T, Murayama K, Sasaki H, Abe M, Kumon M, Kumai T, Yamashiro K, Inamasu J, Hasegawa M, Kurahashi H, Hirose Y.

Oncotarget. 2017 Sep 15;8(49):84729-84742. doi: 10.18632/oncotarget.20951. eCollection 2017 Oct 17.

35.

Genomic Characterization of Chromosomal Insertions: Insights into the Mechanisms Underlying Chromothripsis.

Kato T, Ouchi Y, Inagaki H, Makita Y, Mizuno S, Kajita M, Ikeda T, Takeuchi K, Kurahashi H.

Cytogenet Genome Res. 2017;153(1):1-9. doi: 10.1159/000481586. Epub 2017 Oct 27.

36.

A One-Month-Old Boy With a Seizure During a Febrile Illness.

Muto T, Nago N, Kurahashi H, Minagawa H, Okumura A.

Clin Pediatr (Phila). 2018 Mar;57(3):355-357. doi: 10.1177/0009922817691827. Epub 2017 Feb 16. No abstract available.

PMID:
28952354
37.

Morphology of immature stages of blow fly, Lucilia sinensis Aubertin (Diptera: Calliphoridae), a potential species of forensic importance.

Sanit S, Sukontason K, Kurahashi H, Tomberlin JK, Wannasan A, Kraisittipanit R, Sukontason KL.

Acta Trop. 2017 Dec;176:395-401. doi: 10.1016/j.actatropica.2017.09.014. Epub 2017 Sep 20.

PMID:
28939496
38.

Decreased platelet count in children with epilepsy treated with valproate and its relationship to the immature platelet fraction.

Kurahashi H, Takami A, Murotani K, Numoto S, Okumura A.

Int J Hematol. 2018 Jan;107(1):105-111. doi: 10.1007/s12185-017-2323-0. Epub 2017 Sep 6.

PMID:
28879549
39.

The DNA Damage Checkpoint Eliminates Mouse Oocytes with Chromosome Synapsis Failure.

Rinaldi VD, Bolcun-Filas E, Kogo H, Kurahashi H, Schimenti JC.

Mol Cell. 2017 Sep 21;67(6):1026-1036.e2. doi: 10.1016/j.molcel.2017.07.027. Epub 2017 Aug 24.

40.

Corrigendum: Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome.

Nagasaka M, Taniguchi-Ikeda M, Inagaki H, Ouchi Y, Kurokawa D, Yamana K, Harada R, Nozu K, Sakai Y, Mishra SK, Yamaguchi Y, Morioka I, Toda T, Kurahashi H, Iijima K.

J Hum Genet. 2017 Sep;62(9):869. doi: 10.1038/jhg.2017.59.

PMID:
28839276
41.

Field evaluation of a semi-automatic funnel trap targeted the medically important non-biting flies.

Klong-Klaew T, Sontigun N, Sanit S, Samerjai C, Sukontason K, Kurahashi H, Koehler PG, Pereira RM, Limsopatham K, Suwannayod S, Thanapornpoonpong SN, Chareonviriyaphap T, Sukontason KL.

Acta Trop. 2017 Dec;176:68-77. doi: 10.1016/j.actatropica.2017.07.018. Epub 2017 Jul 23.

PMID:
28743450
42.

Analysis of the origin of inherited chromosomally integrated human herpesvirus 6 in the Japanese population.

Kawamura Y, Ohye T, Miura H, Ihira M, Kato Y, Kurahashi H, Yoshikawa T.

J Gen Virol. 2017 Jul;98(7):1823-1830. doi: 10.1099/jgv.0.000834. Epub 2017 Jul 12.

PMID:
28699856
43.

The semiology of febrile seizures: Focal features are frequent.

Takasu M, Kubota T, Tsuji T, Kurahashi H, Numoto S, Watanabe K, Okumura A.

Epilepsy Behav. 2017 Aug;73:59-63. doi: 10.1016/j.yebeh.2017.05.004. Epub 2017 Jun 14.

PMID:
28622546
44.

PCS/MVA syndrome caused by an Alu insertion in the BUB1B gene.

Kato M, Kato T, Hosoba E, Ohashi M, Fujisaki M, Ozaki M, Yamaguchi M, Sameshima H, Kurahashi H.

Hum Genome Var. 2017 Jun 8;4:17021. doi: 10.1038/hgv.2017.21. eCollection 2017.

45.

Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes.

Azuma Y, Töpf A, Evangelista T, Lorenzoni PJ, Roos A, Viana P, Inagaki H, Kurahashi H, Lochmüller H.

Neurol Genet. 2017 May 3;3(3):e152. doi: 10.1212/NXG.0000000000000152. eCollection 2017 Jun.

46.

A case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearrangements.

Kohmoto T, Okamoto N, Naruto T, Murata C, Ouchi Y, Fujita N, Inagaki H, Satomura S, Okamoto N, Saito M, Masuda K, Kurahashi H, Imoto I.

Mol Cytogenet. 2017 Apr 28;10:15. doi: 10.1186/s13039-017-0316-6. eCollection 2017.

47.

Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome.

Nagasaka M, Taniguchi-Ikeda M, Inagaki H, Ouchi Y, Kurokawa D, Yamana K, Harada R, Nozu K, Sakai Y, Mishra SK, Yamaguchi Y, Morioka I, Toda T, Kurahashi H, Iijima K.

J Hum Genet. 2017 Sep;62(9):851-855. doi: 10.1038/jhg.2017.48. Epub 2017 Apr 27. Erratum in: J Hum Genet. 2017 Sep;62(9):869.

PMID:
28446798
48.

Characteristics of epilepsy in patients with Kabuki syndrome with KMT2D mutations.

Kurahashi N, Miyake N, Mizuno S, Koshimizu E, Kurahashi H, Yamada K, Natsume J, Aoki Y, Nakamura M, Taniai H, Maki Y, Abe-Hatano C, Matsumoto N, Maruyama K.

Brain Dev. 2017 Sep;39(8):672-677. doi: 10.1016/j.braindev.2017.03.025. Epub 2017 Apr 9.

PMID:
28404210
49.

Preserved search asymmetry in the detection of fearful faces among neutral faces in individuals with Williams syndrome revealed by measurement of both manual responses and eye tracking.

Hirai M, Muramatsu Y, Mizuno S, Kurahashi N, Kurahashi H, Nakamura M.

J Neurodev Disord. 2017 Mar 3;9:8. doi: 10.1186/s11689-017-9190-0. eCollection 2017.

50.

A Family with Craniofrontonasal Syndrome: The First Report of Familial Cases of Craniofrontonasal Syndrome with Bilateral Cleft Lip and Palate.

Inoue Y, Sakamoto Y, Sugimoto M, Inagaki H, Boda H, Miyata M, Kato H, Kurahashi H, Okumoto T.

Cleft Palate Craniofac J. 2018 Aug;55(7):1026-1029. doi: 10.1597/15-347. Epub 2018 Feb 26.

PMID:
28140668

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