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Items: 1 to 50 of 2220

1.

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.

Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E, Babovic-Vuksanovic D, Schelley S, Hudgins L, Kant S, Isidor B, Cogne B, Bradbury K, Williams M, Patel C, Heussler H, Duff-Farrier C, Lakeman P, Scurr I, Kini U, Elting M, Reijnders M, Schuurs-Hoeijmakers J, Wafik M, Blomhoff A, Ruivenkamp CAL, Nibbeling E, Dingemans AJM, Douine ED, Nelson SF; DDD Study,, Arboleda VA, Newbury-Ecob R.

Genet Med. 2018 Sep 24. doi: 10.1038/s41436-018-0259-2. [Epub ahead of print]

PMID:
30245513
2.

Phenotypic and molecular insights into PQBP1-related intellectual disability.

Abdel-Salam GMH, Miyake N, Abdel-Hamid MS, Sayed ISM, Gadelhak MI, Ismail SI, Aglan MS, Afifi HH, Temtamy SA, Matsumoto N.

Am J Med Genet A. 2018 Sep 23. doi: 10.1002/ajmg.a.40479. [Epub ahead of print]

PMID:
30244542
3.

Microcystic Adenocarcinoma: An Initially Overlooked First Proposal of the Term.

Ide F, Matsumoto N, Kikuchi K, Kusama K.

Head Neck Pathol. 2018 Sep 21. doi: 10.1007/s12105-018-0967-6. [Epub ahead of print] No abstract available.

PMID:
30242735
4.

Complex formation of sphingomyelin synthase 1 with glucosylceramide synthase increases sphingomyelin and decreases glucosylceramide levels.

Hayashi Y, Nemoto-Sasaki Y, Matsumoto N, Hama K, Tanikawa T, Oka S, Saeki T, Kumasaka T, Koizumi T, Arai S, Wada I, Yokoyama K, Sugiura T, Yamashita A.

J Biol Chem. 2018 Sep 21. pii: jbc.RA118.002048. doi: 10.1074/jbc.RA118.002048. [Epub ahead of print]

5.

Easy and efficient production of completely embryonic-stem-cell-derived mice using a micro-aggregation device.

Sumiyama K, Matsumoto N, Garçon-Yoshida J, Ukai H, Ueda HR, Tanaka Y.

PLoS One. 2018 Sep 19;13(9):e0203056. doi: 10.1371/journal.pone.0203056. eCollection 2018.

6.

Polymorphism in Benzene-1,3,5-tricarboxamide Supramolecular Assemblies in Water: a Subtle Trade-off between Structure and Dynamics.

Matsumoto NM, Lafleur RPM, Lou X, Shih KC, Wijnands SPW, Guibert CEM, Van Rosendaal JWAM, Voets IK, Palmans ARA, Lin Y, Meijer EW.

J Am Chem Soc. 2018 Sep 17. doi: 10.1021/jacs.8b07697. [Epub ahead of print]

PMID:
30221520
7.

[A case of liver Mycobacterium avium complex syndrome, diagnosed by liver biopsy].

Hikita K, Takami S, Sugimoto H, Kimura H, Tanaka N, Nakajima J, Yoriki H, Jo M, Zen K, Masuzawa A, Matsumoto N, Wakabayashi N, Kataoka K, Masuzawa N.

Nihon Shokakibyo Gakkai Zasshi. 2018;115(9):818-824. doi: 10.11405/nisshoshi.115.818. Japanese.

PMID:
30197396
8.

Screening of known disease genes in congenital scoliosis.

Takeda K, Kou I, Mizumoto S, Yamada S, Kawakami N, Nakajima M, Otomo N, Ogura Y, Miyake N, Matsumoto N, Kotani T, Sudo H, Yonezawa I, Uno K, Taneichi H, Watanabe K, Shigematsu H, Sugawara R, Taniguchi Y, Minami S, Nakamura M, Matsumoto M; Japan Early Onset Scoliosis Research Group, Watanabe K, Ikegawa S.

Mol Genet Genomic Med. 2018 Sep 9. doi: 10.1002/mgg3.466. [Epub ahead of print]

9.

Ultrahigh-resolution CT scan of the temporal bone.

Yamashita K, Hiwatashi A, Togao O, Kikuchi K, Matsumoto N, Momosaka D, Nakatake H, Sakai Y, Honda H.

Eur Arch Otorhinolaryngol. 2018 Aug 22. doi: 10.1007/s00405-018-5101-6. [Epub ahead of print]

PMID:
30159727
10.
11.

Anticoagulants, Reperfusion Therapy, and Outcomes in Ischemic Stroke Patients With Non-Valvular Atrial Fibrillation - A Single-Center, 6-Year Experience of 546 Consecutive Patients.

Suda S, Sakamoto Y, Okubo S, Aoki J, Shimoyama T, Kanamaru T, Suzuki K, Kutsuna A, Matsumoto N, Nito C, Nishiyama Y, Mishina M, Kimura K.

Circ J. 2018 Aug 30. doi: 10.1253/circj.CJ-18-0561. [Epub ahead of print]

12.

Muscarinic Acetylcholine Receptors Chrm1 and Chrm3 Are Essential for REM Sleep.

Niwa Y, Kanda GN, Yamada RG, Shi S, Sunagawa GA, Ukai-Tadenuma M, Fujishima H, Matsumoto N, Masumoto KH, Nagano M, Kasukawa T, Galloway J, Perrin D, Shigeyoshi Y, Ukai H, Kiyonari H, Sumiyama K, Ueda HR.

Cell Rep. 2018 Aug 28;24(9):2231-2247.e7. doi: 10.1016/j.celrep.2018.07.082.

13.

Funding map using paragraph embedding based on semantic diversity.

Kawamura T, Watanabe K, Matsumoto N, Egami S, Jibu M.

Scientometrics. 2018;116(2):941-958. doi: 10.1007/s11192-018-2783-x. Epub 2018 May 28.

14.
15.

The subiculum: Unique hippocampal hub and more.

Matsumoto N, Kitanishi T, Mizuseki K.

Neurosci Res. 2018 Aug 16. pii: S0168-0102(18)30275-X. doi: 10.1016/j.neures.2018.08.002. [Epub ahead of print] Review.

PMID:
30121285
17.

Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders - leukodystrophy and autism.

Yamamoto T, Yamamoto-Shimojima K, Ueda Y, Imai K, Takahashi Y, Imagawa E, Miyake N, Matsumoto N.

Hum Genome Var. 2018 Jul 19;5:18. doi: 10.1038/s41439-018-0020-z. eCollection 2018.

18.

A recurrent homozygous NHLRC1 variant in siblings with Lafora disease.

Araya N, Takahashi Y, Shimono M, Fukuda T, Kato M, Nakashima M, Matsumoto N, Saitsu H.

Hum Genome Var. 2018 Jul 12;5:16. doi: 10.1038/s41439-018-0015-9. eCollection 2018.

19.

Three-Year Clinical Outcomes Associated With Warfarin vs. Direct Oral Anticoagulant Use Among Japanese Patients With Atrial Fibrillation - Findings From the SAKURA AF Registry.

Okumura Y, Yokoyama K, Matsumoto N, Tachibana E, Kuronuma K, Oiwa K, Matsumoto M, Kojima T, Hanada S, Nomoto K, Arima K, Takahashi F, Kotani T, Ikeya Y, Fukushima S, Itou S, Kondo K, Chiku M, Ohno Y, Onikura M, Hirayama A; SAKURA AF Registry Investigators.

Circ J. 2018 Aug 4. doi: 10.1253/circj.CJ-18-0535. [Epub ahead of print]

20.

Biallelic loss-of-function UBA5 mutations in a patient with intractable West syndrome and profound failure to thrive.

Daida A, Hamano SI, Ikemoto S, Matsuura R, Nakashima M, Matsumoto N, Kato M.

Epileptic Disord. 2018 Aug 1;20(4):313-318. doi: 10.1684/epd.2018.0981.

PMID:
30078785
21.

A novel homozygous mutation of CLCN2 in a patient with characteristic brain MRI images - A first case of CLCN2-related leukoencephalopathy in Japan.

Hoshi M, Koshimizu E, Miyatake S, Matsumoto N, Imamura A.

Brain Dev. 2018 Aug 1. pii: S0387-7604(18)30342-5. doi: 10.1016/j.braindev.2018.07.011. [Epub ahead of print]

PMID:
30077506
22.

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.

Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, Bruel AL, Buchert R, Calpena E, Cogné B, Dallapiccola B, Distelmaier F, Elmslie F, Faivre L, Haack TB, Harrison V, Henderson A, Hunt D, Isidor B, Joset P, Kumada S, Lachmeijer AMA, Lees M, Lynch SA, Martinez F, Matsumoto N, McDougall C, Mefford HC, Miyake N, Myers CT, Moutton S, Nesbitt A, Novelli A, Orellana C, Rauch A, Rosello M, Saida K, Santani AB, Sarkar A, Scheffer IE, Shinawi M, Steindl K, Symonds JD, Zackai EH; University of Washington Center for Mendelian Genomics; DDD Study, Reis A, Sticht H, Zweier C.

Am J Hum Genet. 2018 Aug 2;103(2):305-316. doi: 10.1016/j.ajhg.2018.07.003. Epub 2018 Jul 26.

PMID:
30057029
23.

Low Free Triiodothyronine Predicts 3-Month Poor Outcome After Acute Stroke.

Suda S, Shimoyama T, Nagai K, Arakawa M, Aoki J, Kanamaru T, Suzuki K, Sakamoto Y, Takeshi Y, Matsumoto N, Nishiyama Y, Nito C, Mishina M, Kimura K.

J Stroke Cerebrovasc Dis. 2018 Oct;27(10):2804-2809. doi: 10.1016/j.jstrokecerebrovasdis.2018.06.009. Epub 2018 Jul 26.

PMID:
30056971
24.

A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report.

Hyun HS, Kim SH, Park E, Cho MH, Kang HG, Lee HS, Miyake N, Matsumoto N, Tsukaguchi H, Cheong HI.

BMC Med Genet. 2018 Jul 27;19(1):131. doi: 10.1186/s12881-018-0649-y.

25.

A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia.

Uchiyama Y, Yanagisawa K, Kunishima S, Shiina M, Ogawa Y, Nakashima M, Hirato J, Imagawa E, Fujita A, Hamanaka K, Miyatake S, Mitsuhashi S, Takata A, Miyake N, Ogata K, Handa H, Matsumoto N, Mizuguchi T.

Clin Genet. 2018 Jul 26. doi: 10.1111/cge.13423. [Epub ahead of print]

PMID:
30051457
26.

Simultaneous monitoring of mouse respiratory and cardiac rates through a single precordial electrode.

Sato M, Matsumoto N, Noguchi A, Okonogi T, Sasaki T, Ikegaya Y.

J Pharmacol Sci. 2018 Jun;137(2):177-186. doi: 10.1016/j.jphs.2018.06.009. Epub 2018 Jun 20.

27.

Diagnostic Ability of Endoscopic Bile Cytology Using a Newly Designed Biliary Scraper for Biliary Strictures.

Nakahara K, Michikawa Y, Morita R, Suetani K, Morita N, Sato J, Tsuji K, Ikeda H, Matsunaga K, Watanabe T, Matsumoto N, Kobayashi S, Otsubo T, Itoh F.

Dig Dis Sci. 2018 Jul 23. doi: 10.1007/s10620-018-5217-y. [Epub ahead of print]

PMID:
30039240
28.

Who Originally Described Pindborg Tumor?

Ide F, Matsumoto N, Kikuchi K, Kusama K.

Head Neck Pathol. 2018 Jul 19. doi: 10.1007/s12105-018-0950-2. [Epub ahead of print] No abstract available.

PMID:
30027385
29.

Dysregulation of miRNA in chronic hepatitis B is associated with hepatocellular carcinoma risk after nucleos(t)ide analogue treatment.

Wakasugi H, Takahashi H, Niinuma T, Kitajima H, Oikawa R, Matsumoto N, Takeba Y, Otsubo T, Takagi M, Ariizumi Y, Suzuki M, Okuse C, Iwabuchi S, Nakano M, Akutsu N, Kang JH, Matsui T, Yamada N, Sasaki H, Yamamoto E, Kai M, Sasaki Y, Sasaki S, Tanaka Y, Yotsuyanagi H, Tsutsumi T, Yamamoto H, Tokino T, Nakase H, Suzuki H, Itoh F.

Cancer Lett. 2018 Oct 10;434:91-100. doi: 10.1016/j.canlet.2018.07.019. Epub 2018 Jul 17.

PMID:
30026054
30.

PEX10-related autosomal recessive cerebellar ataxia with hearing loss.

Kaya Özçora GD, Miyatake S, Matsumoto N, Canpolat M, Erdoğan M, Bayramov R, Kumandaş S.

Acta Neurol Belg. 2018 Jul 19. doi: 10.1007/s13760-018-0987-8. [Epub ahead of print] No abstract available.

PMID:
30022445
31.

Novel SUZ12 mutations in Weaver-like syndrome.

Imagawa E, Albuquerque EVA, Isidor B, Mitsuhashi S, Mizuguchi T, Miyatake S, Takata A, Miyake N, Boguszewski MCS, Boguszewski CL, Lerario AM, Funari MA, Jorge AAL, Matsumoto N.

Clin Genet. 2018 Jul 18. doi: 10.1111/cge.13415. [Epub ahead of print]

PMID:
30019515
32.

A novel SLC9A1 mutation causes cerebellar ataxia.

Iwama K, Osaka H, Ikeda T, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ito S, Mizuguchi T, Matsumoto N.

J Hum Genet. 2018 Jul 17. doi: 10.1038/s10038-018-0488-x. [Epub ahead of print]

PMID:
30018422
33.

A longitudinal study of the association of the eicosapentaenoic acid/arachidonic acid ratio derived from fish consumption with the serum lipid levels: a pilot study.

Tani S, Matsuo R, Matsumoto N.

Heart Vessels. 2018 Jul 16. doi: 10.1007/s00380-018-1226-1. [Epub ahead of print]

PMID:
30014269
34.

Changing relationship between the dead and the living in Japanese prehistory.

Matsumoto N.

Philos Trans R Soc Lond B Biol Sci. 2018 Sep 5;373(1754). pii: 20170272. doi: 10.1098/rstb.2017.0272.

PMID:
30012738
35.

Immunological association of inducible bronchus-associated lymphoid tissue organogenesis in Ag85B-rHPIV2 vaccine-induced anti-tuberculosis mucosal immune responses in mice.

Nagatake T, Suzuki H, Hirata SI, Matsumoto N, Wada Y, Morimoto S, Nasu A, Shimojou M, Kawano M, Ogami K, Tsujimura Y, Kuroda E, Iijima N, Hosomi K, Ishii KJ, Nosaka T, Yasutomi Y, Kunisawa J.

Int Immunol. 2018 Jul 16. doi: 10.1093/intimm/dxy046. [Epub ahead of print]

PMID:
30011025
36.

Lectin histochemical studies on the olfactory gland and two types of gland in vomeronasal organ of the brown bear.

Tomiyasu J, Kondoh D, Sakamoto H, Matsumoto N, Haneda S, Matsui M.

Acta Histochem. 2018 Aug;120(6):566-571. doi: 10.1016/j.acthis.2018.07.003. Epub 2018 Jul 9.

PMID:
30001800
37.

Apoptosis and non-alcoholic fatty liver diseases.

Kanda T, Matsuoka S, Yamazaki M, Shibata T, Nirei K, Takahashi H, Kaneko T, Fujisawa M, Higuchi T, Nakamura H, Matsumoto N, Yamagami H, Ogawa M, Imazu H, Kuroda K, Moriyama M.

World J Gastroenterol. 2018 Jul 7;24(25):2661-2672. doi: 10.3748/wjg.v24.i25.2661. Review.

38.

Isolation of Adipose-Derived Stem/Stromal Cells from Cryopreserved Fat Tissue and Transplantation into Rats with Spinal Cord Injury.

Ohta Y, Takenaga M, Hamaguchi A, Ootaki M, Takeba Y, Kobayashi T, Watanabe M, Iiri T, Matsumoto N.

Int J Mol Sci. 2018 Jul 5;19(7). pii: E1963. doi: 10.3390/ijms19071963.

39.

Esophagogastric varices were diagnosed in a non-cirrhotic liver case during long-term follow-up after oxaliplatin-based chemotherapy.

Shigefuku R, Watanabe T, Mizukami T, Matsunaga K, Hattori N, Ehira T, Suzuki T, Nakano H, Sato Y, Matsuo Y, Nakahara K, Ikeda H, Matsumoto N, Tsuda T, Katayama M, Koizumi S, Okuse C, Suzuki M, Otsubo T, Nakajima TE, Yasuda H, Itoh F.

Clin J Gastroenterol. 2018 Jun 11. doi: 10.1007/s12328-018-0873-1. [Epub ahead of print]

PMID:
29948819
40.

Assessment of the timing and degree of smolt development in southern populations of masu salmon Oncorhynchus masou.

Inatani Y, Ineno T, Sone S, Matsumoto N, Uchida K, Shimizu M.

J Fish Biol. 2018 Jun 21. doi: 10.1111/jfb.13647. [Epub ahead of print]

PMID:
29931678
41.

Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder.

Chong PF, Saitsu H, Sakai Y, Imagi T, Nakamura R, Matsukura M, Matsumoto N, Kira R.

Seizure. 2018 Aug;60:91-93. doi: 10.1016/j.seizure.2018.06.012. Epub 2018 Jun 13.

PMID:
29929112
42.

Comparison of ICD shock rates in Japanese and non-Japanese patients in the PainFree SST study.

Kurita T, Ando K, Ueda M, Shizuta S, Okamura H, Matsumoto N, Gerritse B, Fagan DH, Schloss EJ, Meijer A, Auricchio A, Sterns LD, Okumura K; PainFree SST investigators.

Pacing Clin Electrophysiol. 2018 Sep;41(9):1185-1191. doi: 10.1111/pace.13427. Epub 2018 Aug 13.

PMID:
29928759
43.

Aberration correction considering curved sample surface shape for non-contact two-photon excitation microscopy with spatial light modulator.

Matsumoto N, Konno A, Inoue T, Okazaki S.

Sci Rep. 2018 Jun 18;8(1):9252. doi: 10.1038/s41598-018-27693-7.

44.

A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene.

Sato T, Kato M, Moriyama K, Haraguchi K, Saitsu H, Matsumoto N, Moriuchi H.

Brain Dev. 2018 Oct;40(9):819-823. doi: 10.1016/j.braindev.2018.05.012. Epub 2018 Jun 12.

PMID:
29907476
45.

Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: Expanding the phenotype of LAMB1 gene mutations.

Okazaki T, Saito Y, Hayashida T, Akaboshi S, Miyake N, Matsumoto N, Kasagi N, Adachi K, Shinohara Y, Nanba E, Maegaki Y.

Clin Genet. 2018 Oct;94(3-4):391-392. doi: 10.1111/cge.13378. Epub 2018 Jun 10.

PMID:
29888467
46.

Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification.

Ürel-Demir G, Simsek-Kiper PO, Akgün-Doğan Ö, Göçmen R, Wang Z, Matsumoto N, Miyake N, Utine GE, Nishimura G, Ikegawa S, Boduroglu K.

J Hum Genet. 2018 Jun 8. doi: 10.1038/s10038-018-0473-4. [Epub ahead of print]

PMID:
29884795
47.

Long-term events after physician-referred initial tests by myocardial perfusion imaging or computed tomography coronary angiography in patients with suspected coronary artery disease.

Naya M, Uemura Y, Matsumoto N, Momose M, Kato T, Hida S, Yamauchi T, Nakajima T, Suzuki E, Tamaki N; J-COMPASS Extended Follow-Up Study Group.

Coron Artery Dis. 2018 Jun 5. doi: 10.1097/MCA.0000000000000645. [Epub ahead of print]

PMID:
29877870
48.

Prognostic impact of reducing myocardial ischemia identified using ECG-gated myocardial perfusion SPECT in Japanese patients with coronary artery disease: J-ACCESS 4 study.

Nanasato M, Matsumoto N, Nakajima K, Chikamori T, Moroi M, Takehana K, Momose M, Nishina H, Kasai T, Yoda S, Kiso K, Yamamoto H, Nishimura S, Yamashina A, Kusuoka H, Hirayama A, Nishimura T.

Int J Cardiol. 2018 Sep 15;267:202-207. doi: 10.1016/j.ijcard.2018.05.090. Epub 2018 May 24.

49.

PRUNE1-related disorder: Expanding the clinical spectrum.

Imagawa E, Yamamoto Y, Mitsuhashi S, Isidor B, Fukuyama T, Kato M, Sasaki M, Tanabe S, Miyatake S, Mizuguchi T, Takata A, Miyake N, Matsumoto N.

Clin Genet. 2018 Oct;94(3-4):362-367. doi: 10.1111/cge.13385. Epub 2018 Jun 26.

PMID:
29797509
50.

A novel 8-bp duplication in ADAT3 causes mild intellectual disability.

Salehi Chaleshtori AR, Miyake N, Ahmadvand M, Bashti O, Matsumoto N, Noruzinia M.

Hum Genome Var. 2018 May 21;5:7. doi: 10.1038/s41439-018-0007-9. eCollection 2018.

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