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山口智美  ヤマグチ トモミ

教員組織電話番号
教育組織医学部附属病院 遺伝子医療研究センターFAX番号
職名助教(特定雇用)メールアドレス
住所〒390-8621 長野県松本市旭3-1-1ホームページURL

プロフィール

研究分野
分子生物学
遺伝医学
所属学会
所属学会
日本人類遺伝
学歴
出身大学院
2005 , 富山大学大学院 , 理工学研究科 , 生物学専攻

取得学位
理学修士 , 富山大学大学院
研究職歴等
研究職歴
2017- , 助教(特定雇用)
2005- , 株式会社ナガノトマト マーケティング部 研究開発グループ

研究活動業績

研究業績(著書・
発表論文等)
論文
Familial aortic dissection of a young adult caused by MYH11 gene mutation.
Ann Thorac Surg.,108(1):e49 2019(Jul.)
Author:Yamasaki M, Abe K, Kosho T, Yamaguchi T.


PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review.
Am J Med Genet A.,179(6):948-57 2019(Jun.)
Author:Yamaguchi T, Takano K, Inaba Y, Morikawa M, Motobayashi M, Kawamura R, Wakui K, Nishi E, Hirabayashi SI, Fukushima Y, Kato H, Takahashi J, Kosho T.


Structural alteration of glycosaminoglycan side chains and spatial disorganization of collagen networks in the skin of patients with mcEDS-CHST14.
Biochim Biophys Acta Gen Subj.,1863(3):623-31 2019(May)
Author:Hirose T, Takahashi N, Tangkawattana P, Minaguchi J, Mizumoto S, Yamada S, Miyake N, Hayashi S, Hatamochi A, Nakayama J, Yamaguchi T, Hashimoto A, Nomura Y, Takehana K, Kosho T, Watanabe T.


A novel CACNA1A nonsense variant in a patient presenting with paroxysmal exertion-induced dyskinesia.
J Neurol Sci.,399:214-6 2019(Apr.)
Author:Ogawa Y, Nakamura K, Ezawa N, Yamaguchi T, Yoshinaga T, Miyazaki D, Kosho T, Sekijima Y.


A case of septo-optic dysplasia with hereditary hemorrhagic telangiectasia: a previously unrecognized combination of malformations.
Clin Dysmorphol. 2019(Apr.)
Author:Kawano-Matsuda F, Shimada Y, Omotobara-Yabe T, Itonaga T, Maeda M, Maeda T, Yamaguchi T, Kosho T, Ihara K.


Frequency and clinical features of hearing loss caused by STRC deletions.
Sci Rep.,9(1):4408 2019(Mar.)
Author:Yokota Y, Moteki H, Nishio SY, Yamaguchi T, Wakui K, Kobayashi Y, Ohyama K, Miyazaki H, Matsuoka R, Abe S, Kumakawa K, Takahashi M, Sakaguchi H, Uehara N, Ishino T, Kosho T, Fukushima Y, Usami SI.


Efficacy and Safety of Denosumab Therapy for Osteogenesis Imperfecta Patients with Osteoporosis-Case Series.
J Clin Med.,7(12):479 2018(Nov.)
Author:Kobayashi T, Nakamura Y, Suzuki T, Yamaguchi T, Takeda R, Takagi M, Hasegawa T, Kosho T, Kato H.


Peripartum iliac arterial aneurysm and rupture in a patient with vascular Ehlers-Danlos syndrome diagnosed by next generation sequencing.
Int Heart J.,59(5):1180-5 2018(Sep.)
Author:Koitabashi N, Yamaguchi T, Fukui D, Nakano T, Umeyama A, Toda K, Funada R, Ishikawa M, Kawamura R, Okada K, Hatamochi A, Kosho T, Kurabayashi M.


Efficacy of denosumab therapy for neurofibromatosis type 1 with osteoporosis and history of fractures: a case report.
Ther Clin Risk Manag,14:1243–1246 2018(Jul.)
Author:Uehara M, Nakamura Y, Takahashi J, Kamimura M, Isobe F, Yamaguchi T, Kosho T, Uchiyama S, Suzuki T, Kato H.


【Marfan症候群の診断と治療】Marfan症候群と類縁疾患のPrecision Medicine.
医学のあゆみ,264(3):227-233 2018(Jan.)
Author:山口智美,古庄知己.


[Successful treatment of X-linked sideroblastic anemia with ALAS2 R452H mutation using vitamin B6].
Rinsho Ketsueki,59(4):401-406 2018
Author:Kawakami T, Nakazawa H, Kawakami F, Matsuzawa S, Sudo Y, Sakai H, Nishina S, Senoo N, Senoo Y, Komatsu M, Umemura T, Yamaguchi T, Kosho T, Fujiwara T, Harigae H, Ishida F.


A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8.
Hum Genome Var,4:17052 2017(Oct.)
Author:Yoshinaga T, Nakamura K, Ishikawa M, Yamaguchi T, Takano K, Wakui K, Kosho T, Yoshida K, Fukushima Y, Sekijima Y.


Mobile Cecum in a Young Woman with Ehlers-Danlos Syndrome Hypermobility type: A Case Report and Review of the Literature.
Intern Med,56(20):2791-2796 2017(Oct.)
Author:Fukuda Y, Higuchi Y, Shinozaki K, Tanigawa Y, Abe T, Hanaoka N, Matsubayashi S, Yamaguchi T, Kosho T, Nakamichi K.


Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration.
Eur J Med Genet,60(10):521-526 2017(Oct.)
Author:Takano K, Goto K, Motobayashi M, Wakui K, Kawamura R, Yamaguchi T, Fukushima Y, Kosho T.


Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency.
Clin Biochem,50(12):670-677 2017(Aug.)
Author:Mizumoto S, Kosho T, Hatamochi A, Honda T, Yamaguchi T, Okamoto N, Miyake N, Yamada S, Sugahara K.


NGSを活用した臨床シーケンスの現状と課題 遺伝性結合組織疾患の臨床シークエンス
臨床病理,65(6):683-690 2017(Jun.)
Author:山口 智美, 古庄 知己


Efficacy of Denosumab for Osteoporosis in Three Female Patients with Osteogenesis Imperfecta.
Tohoku J Exp Med,242(2):115-120 2017(Jun.)
Author:Uehara M, Nakamura Y, Takahashi J, Kamimura M, Ikegami S, Suzuki T, Uchiyama S, Yamaguchi T, Kosho T, Kato H.


Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization.
Ann Otol Rhinol Laryngol,125(11):918-923 2016(Nov.)
Author:Moteki H, Azaiez H, Sloan-Heggen CM, Booth K, Nishio SY, Wakui K, Yamaguchi T, Kolbe DL, Iwasa YI, Shearer AE, Fukushima Y, Smith RJ, Usami SI


Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.
Am J Med Genet A,170A(2):322-8 2016(Feb.)
Author:Takano K, Shiba N, Wakui K, Yamaguchi T, Aida N, Inaba Y, Fukushima Y, Kosho T.