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YAMAGUCHI Tomomi

Academic OrganizationTEL
Education and Research OrganizationUniversity Hospital Center for Medical GeneticsFAX
PositionAssistant ProfessorMail Address
Address3-1-1, Asahi, Matsumoto City 390-8621Web site

Profile

Research Field
Molecular biology
Medical Genetics

Research

Books, Articles, etc.
Articles
Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss.
Genes (Basel),10(9):715 2019(Sep.)
Author:Sugiyama K, Moteki H, Kitajiri SI, Kitano T, Nishio SY, Yamaguchi T, Wakui K, Abe S, Ozaki A, Motegi R, Matsui H, Teraoka M, Kobayashi Y, Kosho T, Usami SI.


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.


[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.


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.


Presentations
Clinical Sequencing for Vascular Ehlers-Danlos Syndrome Using Panel-Based Next-Generation Sequencing
Scientific Meeting Rarer types of EDS 2019(Nov.)
Author:Tomomi Yamaguchi, Shujiro Hayashi, Tomoki Kosho