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Items: 1 to 50 of 251

1.

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.

2.

Characteristics of Patent Ductus Arteriosus in Congenital Rubella Syndrome.

Toizumi M, Do CGT, Motomura H, Do TN, Fukunaga H, Iijima M, Le NN, Nguyen HT, Moriuchi H, Yoshida LM.

Sci Rep. 2019 Nov 19;9(1):17105. doi: 10.1038/s41598-019-52936-6.

3.

Streptococcus mutans isolated from a 4-year-old girl diagnosed with infective endocarditis.

Kondo Y, Hoshino T, Ogawa M, Hidaka K, Hasuwa T, Moriuchi H, Fujiwara T.

Clin Exp Dent Res. 2019 Jul 22;5(5):534-540. doi: 10.1002/cre2.220. eCollection 2019 Oct.

4.

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
5.

Purpuric skin lesions possibly associated with acquired cytomegalovirus infection.

Esaki H, Otsubo Y, Sumi M, Moriuchi M, Moriuchi H.

Pediatr Int. 2019 May;61(5):522-523. doi: 10.1111/ped.13836. Epub 2019 May 20. No abstract available.

6.

Asthma, Rhinoconjunctivitis, Eczema, and the Association with Perinatal Anthropometric Factors in Vietnamese Children.

Toizumi M, Hashizume M, Nguyen HAT, Yasunami M, Kitamura N, Iwasaki C, Takegata M, Moriuchi H, Dang DA, Ariyoshi K, Yoshida LM.

Sci Rep. 2019 Feb 25;9(1):2655. doi: 10.1038/s41598-019-39658-5.

7.

Medial meniscal extrusion and spontaneous osteonecrosis of the knee.

Oda S, Fujita A, Moriuchi H, Okamoto Y, Otsuki S, Neo M.

J Orthop Sci. 2019 Sep;24(5):867-872. doi: 10.1016/j.jos.2019.02.001. Epub 2019 Feb 21.

PMID:
30799164
8.

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
9.

Anaphylaxis to Carboxymethylcellulose: Add Food Additives to the List of Elicitors.

Ohnishi A, Hashimoto K, Ozono E, Sasaki M, Sakamoto A, Tashiro K, Moriuchi H.

Pediatrics. 2019 Mar;143(3). pii: e20181180. doi: 10.1542/peds.2018-1180. Epub 2019 Feb 14.

PMID:
30765462
10.

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
11.

Influenza B associated paediatric acute respiratory infection hospitalization in central vietnam.

Yoshihara K, Le MN, Toizumi M, Nguyen HA, Vo HM, Odagiri T, Fujisaki S, Ariyoshi K, Moriuchi H, Hashizume M, Dang DA, Yoshida LM.

Influenza Other Respir Viruses. 2019 May;13(3):248-261. doi: 10.1111/irv.12626. Epub 2019 Feb 28.

12.

Clinical manifestations of congenital rubella syndrome: A review of our experience in Vietnam.

Toizumi M, Vo HM, Dang DA, Moriuchi H, Yoshida LM.

Vaccine. 2019 Jan 3;37(1):202-209. doi: 10.1016/j.vaccine.2018.11.046. Epub 2018 Nov 30. Review.

PMID:
30503658
13.

Viral Acute Respiratory Illnesses in Young Infants Increase the Risk of Respiratory Readmission.

Toizumi M, Suzuki M, Nguyen HAT, Le MN, Ariyoshi K, Moriuchi H, Hashizume M, Dang DA, Yoshida LM.

Pediatr Infect Dis J. 2018 Dec;37(12):1217-1222. doi: 10.1097/INF.0000000000001998.

PMID:
30408004
14.

Neonatal varicella: Probable transmission from a vaccinated mother.

Machi H, Nakashima K, Moriuchi M, Moriuchi H.

Pediatr Int. 2018 Sep;60(9):900-901. doi: 10.1111/ped.13655. Epub 2018 Sep 5. No abstract available.

PMID:
30187602
15.

A Twenty-Year Retrospective Diagnosis of Congenital Cytomegalovirus Infection.

Hayashi M, Nishiyama I, Moriuchi M, Moriuchi H.

Pediatr Neurol. 2018 Sep;86:71-72. doi: 10.1016/j.pediatrneurol.2018.05.007. Epub 2018 May 24. No abstract available.

PMID:
30104109
16.

Synovial sarcoma of the left forearm in a neonate.

Kirino T, Funakoshi Y, Miyata N, Okada M, Moriuchi H.

Pediatr Int. 2018 Jun;60(6):604-605. doi: 10.1111/ped.13581. No abstract available.

PMID:
29924478
17.

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
18.

[A 15-year-old girl with congenital cytomegalovirus infection presenting with sensorineural hearing impairment and cerebral while matter lesions but no intellectual disability].

Nakagawa K, Kadoya M, Matsumoto H, Moriuchi H, Ikewaki K, Kaida K.

Rinsho Shinkeigaku. 2018 May 25;58(5):320-323. doi: 10.5692/clinicalneurol.cn-001164. Epub 2018 Apr 28. Japanese.

PMID:
29710020
19.

Prospective multinational serosurveillance study of Bordetella pertussis infection among 10- to 18-year-old Asian children and adolescents.

Son S, Thamlikitkul V, Chokephaibulkit K, Perera J, Jayatilleke K, Hsueh PR, Lu CY, Balaji V, Moriuchi H, Nakashima Y, Lu M, Yang Y, Yao K, Kim SH, Song JH, Kim S, Kim MJ, Heininger U, Chiu CH, Kim YJ.

Clin Microbiol Infect. 2019 Feb;25(2):250.e1-250.e7. doi: 10.1016/j.cmi.2018.04.013. Epub 2018 Apr 22.

PMID:
29689428
20.

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.

21.

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
22.

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.

23.

A Neonatal Case of Glial Choristoma of the Tongue Causing Airway Obstruction.

Machi H, Karata H, Yamane Y, Fukuoka J, Funakoshi Y, Moriuchi H.

Case Rep Otolaryngol. 2017;2017:2413035. doi: 10.1155/2017/2413035. Epub 2017 Sep 20.

24.

Congenital cytomegalovirus in Japan: More than 2 year follow up of infected newborns.

Koyano S, Morioka I, Oka A, Moriuchi H, Asano K, Ito Y, Yoshikawa T, Yamada H, Suzutani T, Inoue N; Japanese Congenital Cytomegalovirus Study Group.

Pediatr Int. 2018 Jan;60(1):57-62. doi: 10.1111/ped.13433. Epub 2017 Dec 19.

PMID:
29032597
25.

Low risk of treatment resistance in Down syndrome with Kawasaki disease.

Takatsuki S, Ogata S, Ishii M, Yokozawa M, Ono M, Fujiwara M, Ida H, Motomura H, Moriuchi H, Taketazu M, Kawamura Y, Kawano T, Izumi T, Shiono J, Tsuchiya S, Tsuchiya K, Goushi T, Ichida F, Saji T.

Pediatr Int. 2017 Dec;59(12):1236-1239. doi: 10.1111/ped.13429.

PMID:
28960680
26.

Siblings with congenital thrombotic thrombocytopenic purpura.

Funakoshi Y, Okada M, Matsumoto M, Kokame K, Moriuchi H.

Rinsho Ketsueki. 2017;58(8):933-937. doi: 10.11406/rinketsu.58.933. Japanese.

PMID:
28883277
27.

Draft Genome Sequence of a Clinical Isolate of Streptococcus mutans Strain HM.

Kondo Y, Nishimata H, Hidaka K, Hasuwa T, Moriuchi H, Fujiwara T, Hoshino T.

Genome Announc. 2017 Aug 17;5(33). pii: e00826-17. doi: 10.1128/genomeA.00826-17.

28.

Development of systemic lupus erythematosus 5 years after onset of thrombotic thrombocytopenic purpura.

Shingu K, Funakoshi Y, Ito N, Okada M, Moriuchi H.

Pediatr Int. 2017 Aug;59(8):943-944. doi: 10.1111/ped.13327. Epub 2017 Jul 14. No abstract available.

PMID:
28707764
29.

Novel SGCE mutation (p.Glu65*) in a Japanese family with myoclonus-dystonia.

Koide N, Dateki S, Watanabe K, Moriuchi H.

Pediatr Int. 2017 Sep;59(9):1018-1020. doi: 10.1111/ped.13335. Epub 2017 Jul 14. No abstract available.

PMID:
28707723
30.

Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver-Russell syndrome.

Dateki S, Kagami M, Matsubara K, Izumi K, Watanabe S, Nakatomi A, Kondoh T, Fukami M, Moriuchi H.

J Hum Genet. 2017 Oct;62(10):919-922. doi: 10.1038/jhg.2017.62. Epub 2017 Jun 8.

PMID:
28592837
31.

Association of cord blood chemokines and other biomarkers with neonatal complications following intrauterine inflammation.

Otsubo Y, Hashimoto K, Kanbe T, Sumi M, Moriuchi H.

PLoS One. 2017 May 22;12(5):e0175082. doi: 10.1371/journal.pone.0175082. eCollection 2017.

32.

Newborn Congenital Cytomegalovirus Screening Based on Clinical Manifestations and Evaluation of DNA-based Assays for In Vitro Diagnostics.

Fujii T, Oka A, Morioka I, Moriuchi H, Koyano S, Yamada H, Saito S, Sameshima H, Nagamatsu T, Tsuchida S, Inoue N; Japanese Congenital Cytomegalovirus Study Group.

Pediatr Infect Dis J. 2017 Oct;36(10):942-946. doi: 10.1097/INF.0000000000001630.

PMID:
28471866
33.

Sensory defects and developmental delay among children with congenital rubella syndrome.

Toizumi M, Nguyen GT, Motomura H, Nguyen TH, Pham E, Kaneko KI, Uematsu M, Nguyen HA, Dang DA, Hashizume M, Yoshida LM, Moriuchi H.

Sci Rep. 2017 Apr 13;7:46483. doi: 10.1038/srep46483.

34.

Exposure to paternal tobacco smoking increased child hospitalization for lower respiratory infections but not for other diseases in Vietnam.

Miyahara R, Takahashi K, Anh NT, Thiem VD, Suzuki M, Yoshino H, Tho LH, Moriuchi H, Cox SE, Yoshida LM, Anh DD, Ariyoshi K, Yasunami M.

Sci Rep. 2017 Mar 31;7:45481. doi: 10.1038/srep45481.

35.

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
36.

[Ictal arterial spin labeling MRI findings in two cases of acute confusional migraine].

Watanabe Y, Kitajima T, Nishiguchi N, Watanabe K, Sato T, Dateki S, Ideguchi R, Moriuchi H.

No To Hattatsu. 2017 Mar;49(2):136-40. Japanese.

PMID:
30113155
37.

The Significant Effects of Pazopanib on Multiple Pulmonary Metastatic Lesions of Alveolar Soft Part Sarcoma: A Case Report.

Funakoshi Y, Okada M, Kawata S, Ito N, Abe K, Moriuchi H.

J Pediatr Hematol Oncol. 2017 Apr;39(3):238-239. doi: 10.1097/MPH.0000000000000736. No abstract available.

PMID:
28060129
38.

Clinical results of surgical treatment for femoral neck fractures with the Targon® FN.

Takigawa N, Yasui K, Eshiro H, Moriuchi H, Abe M, Tsujinaka S, Kinoshita M.

Injury. 2016 Dec;47 Suppl 7:S44-S48. doi: 10.1016/S0020-1383(16)30854-3.

PMID:
28040078
39.

Diagnostic value of single photon emission computed tomography (SPECT) for patients with non-herpetic acute limbic encephalitis.

Nishiguchi N, Sato T, Haraguchi K, Inoue D, Takahashi Y, Moriuchi H.

No To Hattatsu. 2017 Jan;49(1):46-50. Japanese.

PMID:
30011155
40.

Complete Genome Sequence of Streptococcus sp. Strain NPS 308.

Kondo Y, Ogura Y, Sato K, Imamura K, Hoshino T, Nishiguchi M, Hasuwa T, Moriuchi H, Hayashi T, Fujiwara T.

Genome Announc. 2016 Dec 22;4(6). pii: e01349-16. doi: 10.1128/genomeA.01349-16.

41.

Analysis of the Outcomes in Central Venous Access Port Implantation Performed by Residents via the Internal Jugular Vein and Subclavian Vein.

Matsushima H, Adachi T, Iwata T, Hamada T, Moriuchi H, Yamashita M, Kitajima T, Okubo H, Eguchi S.

J Surg Educ. 2017 May - Jun;74(3):443-449. doi: 10.1016/j.jsurg.2016.11.005. Epub 2016 Dec 5.

PMID:
27932306
42.

Anomalous origin of the right coronary artery: First familial cases in Asia.

Motomura H, Yokokawa M, Fukunaga H, Nakagaki M, Hasuwa T, Moriuchi H.

Pediatr Int. 2016 Nov;58(11):1232-1234. doi: 10.1111/ped.13146.

PMID:
27882733
43.

Molecular evolution of respiratory syncytial virus subgroup A genotype NA1 and ON1 attachment glycoprotein (G) gene in central Vietnam.

Yoshihara K, Le MN, Nagasawa K, Tsukagoshi H, Nguyen HA, Toizumi M, Moriuchi H, Hashizume M, Ariyoshi K, Dang DA, Kimura H, Yoshida LM.

Infect Genet Evol. 2016 Nov;45:437-446. doi: 10.1016/j.meegid.2016.10.010. Epub 2016 Oct 14.

PMID:
27746294
44.

Identification of 11p14.1-p15.3 deletion probably associated with short stature, relative macrocephaly, and delayed closure of the fontanelles.

Dateki S, Watanabe S, Kinoshita F, Yoshiura KI, Moriuchi H.

Am J Med Genet A. 2017 Jan;173(1):217-220. doi: 10.1002/ajmg.a.37978. Epub 2016 Sep 23.

PMID:
27662520
45.

Therapeutic drug monitoring of ganciclovir for postnatal cytomegalovirus infection in an extremely low birth weight infant: a case report.

Sunada M, Kinoshita D, Furukawa N, Kihara M, Nishimura A, Moriuchi M, Moriuchi H.

BMC Pediatr. 2016 Aug 22;16(1):141. doi: 10.1186/s12887-016-0683-x.

46.

Association of RSV-A ON1 genotype with Increased Pediatric Acute Lower Respiratory Tract Infection in Vietnam.

Yoshihara K, Le MN, Okamoto M, Wadagni AC, Nguyen HA, Toizumi M, Pham E, Suzuki M, Nguyen AT, Oshitani H, Ariyoshi K, Moriuchi H, Hashizume M, Dang DA, Yoshida LM.

Sci Rep. 2016 Jun 16;6:27856. doi: 10.1038/srep27856.

47.

Asian Dust and Pediatric Emergency Department Visits Due to Bronchial Asthma and Respiratory Diseases in Nagasaki, Japan.

Nakamura T, Hashizume M, Ueda K, Shimizu A, Takeuchi A, Kubo T, Hashimoto K, Moriuchi H, Odajima H, Kitajima T, Tashiro K, Tomimasu K, Nishiwaki Y.

J Epidemiol. 2016 Nov 5;26(11):593-601. Epub 2016 May 14.

48.

Genetic background of hyperphenylalaninemia in Nagasaki, Japan.

Dateki S, Watanabe S, Nakatomi A, Kinoshita E, Matsumoto T, Yoshiura K, Moriuchi H.

Pediatr Int. 2016 May;58(5):431-3. doi: 10.1111/ped.12924.

PMID:
27173423
49.

Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome.

Watanabe S, Shimizu K, Ohashi H, Kosaki R, Okamoto N, Shimojima K, Yamamoto T, Chinen Y, Mizuno S, Dowa Y, Shiomi N, Toda Y, Tashiro K, Shichijo K, Minatozaki K, Aso S, Minagawa K, Hiraki Y, Shimokawa O, Matsumoto T, Fukuda M, Moriuchi H, Yoshiura K, Kondoh T.

Am J Med Genet A. 2016 Apr;170A(4):908-17. doi: 10.1002/ajmg.a.37496. Epub 2016 Jan 18.

PMID:
26782913
50.

The Rapid Induction of Carbapenem-Resistance in an Aeromonas dhakensis Blood Isolate.

Murata M, Morinaga Y, Akamatsu N, Matsuda J, Uno N, Kosai K, Hasegawa H, Okada M, Moriuchi H, Yanagihara K.

Jpn J Infect Dis. 2016 Sep 21;69(5):439-41. doi: 10.7883/yoken.JJID.2015.098. Epub 2016 Jan 8.

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