KOSHO, Tomoki | Shinshu University Researcher Directory

Academic Organization	Academic Assembly　School of Medicine and Health Sciences　Institute of Medicine	TEL
Education and Research Organization	School of Medicine　Department of Medical Genetics	FAX
Position	professor	Mail Address
Address	390-8621　長野県松本市旭　3-1-1	Web site

Profile

Research Field: Medical Genetics
Human genetics
Pediatrics
Connective Tissue Diseases

Current Subject: Pathophysiological and therapeutic investigation for pD4ST1-deficient Ehlers-Danlos syndrome
Keywords:Ehlers-Danlos syndrome , CHST14/D4ST1 , Pathophysiology , Treatment , 2015-2017
Clinical and molecular investigation of new types of Ehlers-Danlos syndrome
Keywords:Ehlers-Danlos syndrome , NGS , 遺伝子解析 , 2013-2015
Establishment of natural history and healthcare guideline of Ehlers-Danlos syndrome (vascular type, D4ST1-deficient type)
Keywords:Ehlers-Danlos syndrome , natural history , healthcare guideline , vascular type , D4ST1-deficient typ , 2010-2011
Establishment of natural history and healthcare guideline of Ehlers-Danlos syndrome (vascular type, D4ST1-deficient type)
Keywords:Ehlers-Danlos syndrome , natural history , healthcare guideline , vascular type , D4ST1-deficient typ , 2009-2009
Delineation of natural history and health care program of trisomy 18
Keywords:trisomy 18 , natural history , health care program , 2003-2005

Academic Background: College
Keio University , (Medicine) , 1993

Degree
医学博士 , keio University

Awards: 2015 , 平成27年度日本小児科学会学術研究賞
2014 , 平成25年度信州大学医学部医学科学術奨励賞
2013 , 平成25年度日本医師会医学研究奨励賞
2013 , 第116回日本小児科学会学術集会最優秀演題賞（広島県知事賞）
2013 , 第36回日本小児遺伝学会学術集会優秀演題賞
2011 , 日本人類遺伝学会第56回大会奨励賞
2011 , 第34回日本小児遺伝学会学術集会優秀演題賞
2010 , 第34回日本遺伝カウンセリング学会学術集会優秀賞

Research Career: Research Career
2003- , Division of Medical Genetics, Shinshu University Hospital

Research

Books, Articles, etc.: Books
臨床遺伝学総論　5.遺伝学的マネジメント　A遺伝学的マネジメントの基本と診療の進め方, 臨床遺伝専門医テキスト1, 140-144
診断と治療社，東京 2021
Author:古庄知己

第12章遺伝性疾患の分子生物学的、生化学的、細胞学的基礎, トンプソン＆トンプソン遺伝医学第2版福嶋義光 (監訳) , 249-296
メディカルサイエンスインターナショナル，東京 2017
Author:古庄知己.

Carbohydrate (N-acetylgalactosamine 4-O) sulfotransferase 14 (CHST14)., Handbook of glycosyltransferases and related genes (Taniguchi N, Honke K, Fukuda M, Narimatsu H, Yamaguchi Y, Angata T, eds) , 1135-1148
Springer 2014
Author:Kosho T (corresponding author), Mizumoto S, Sugahara K

Discovery and delineation of dermatan 4-O-sulfotransferase-1 (D4ST1)-deficient Ehlers-Danlos syndrome., Current Genetics in Dermatology (Oiso N, Kawada A, eds) , 73-86
InTech 2013
Author:Kosho T

遺伝カウンセリング, 日本小児整形外科学会教育研修委員会編：小児整形外科テキスト , pp 5-8
メディカルビュー社，東京 2004
Author:古庄知己，福嶋義光

表皮水泡症，新川詔夫（監修），福島義光（編集）, 遺伝カウンセリングマニュアル（改訂第2版） , pp194-195
南江堂，東京 2003
Author:福嶋義光，玉井真理子，吉田邦広，久保田健夫，中村昭則，永井敏郎，後藤雄一，川目　裕，黒澤健司，宇佐美真一，羽田　明，坂爪　悟，西村　玄，松田正之，近藤達郎，古庄知己，櫻井晃洋，小池健一，和田敬仁，上松一永

Articles
Follow-up System for Childhood Cancer Survivors Via Germline Clinical Sequencing
The Shinshu Medical Journal,70(3):157-167 2022(Jun.)
Author:Watanabe Tatsuo, Hirabayashi Koichi, Morita Daisuke, Yamaguchi Tomomi, Okura Eri, Morokawa Hirokazu, Saito Shoji, Tanaka Miyuki, Nakazawa Yozo, Kosho Tomoki

Clinical Presentation and Characteristics of the Upper Extremity in Patients with Musculocontractural Ehlers-Danlos Syndrome.
Genes (Basel). ,13(11):1978 2022
Author:Isobe F, Hayashi M, Kobayashi R, Nakamura M, Kosho T, Takahashi J.

Atypical Sotos syndrome caused by a novel splice site variant.
Hum Genome Var. ,9(1):41 2022
Author:Minatogawa M, Tsuji T, Inaba M, Kawakami N, Mizuno S, Kosho T.

Case report: Mild phenotype of a patient with vascular Ehlers-Danlos syndrome and COL3A1duplication mutation without alteration in the [Gly-X-Y] repeat sequence.
Front Genet. ,13:1017446 2022
Author:Hayashi S, Yamaguchi T, Kosho T, Igawa K.

Severe Cerebral Small Vessel Disease Caused by the Uniallelic p.A252T Variant of HTRA1.
Neurol Genet. ,9(1):e200047 2022
Author:Kondo Y, Yoshinaga T, Nakamura K, Yamaguchi T, Ishikawa M, Kosho T, Sekijima Y.

Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14(mcEDS-CHST14).
J Med Genet.,59(9):865-877 2022
Author:Minatogawa M, Unzaki A, Morisaki H, Syx D, Sonoda T, Janecke AR, Slavotinek A, Voermans NC, Lacassie Y, Mendoza-Londono R, Wierenga KJ, Jayakar P, Gahl WA, Tifft CJ, Figuera LE, Hilhorst-Hofstee Y, Maugeri A, Ishikawa K, Kobayashi T, Aoki Y, Ohura T, Kawame H, Kono M, Mochida K, Tokorodani C, Kikkawa K, Morisaki T, Kobayashi T, Nakane T, Kubo A, Ranells JD, Migita O, Sobey G, Kaur A, Ishikawa M, Yamaguchi T, Matsumoto N, Malfait F, Miyake N, Kosho T.

Expanding the phenotypic spectrum of cardiospondylocarpofacial syndrome: From a detailed clinical and radiological observation of a boy with a novel missense variant in MAP3K7.
Am J Med Genet A.,188(1):350-356 2022
Author:Minatogawa M, Miyake N, Tsukahara Y, Tanabe Y, Uchiyama T, Matsumoto N, Kosho T.

Clinical and molecular features of patients with COL1-related disorders: Implications for the wider spectrum and the risk of vascular complications.
Am J Med Genet A. ,188(9):2560-2575 2022
Author:Takeda R, Yamaguchi T, Hayashi S, Sano S, Kawame H, Kanki S, Taketani T, Yoshimura H, Nakamura Y, Kosho T.

Clinical and pathophysiological delineation of musculocontractural Ehlers-Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS-DSE): A detailed and comprehensive glycobiological and pathological investigation in a novel patient.
Hum Mutat. ,43(12):1829-1836 2022
Author:Minatogawa M, Hirose T, Mizumoto S, Yamaguchi T, Nagae C, Taki M, Yamada S, Watanabe T, Kosho T.

Alterations in glycosaminoglycan biosynthesis associated with the Ehlers-Danlos Syndromes.
Am J Physiol Cell Physiol. ,323(6):C1843-C1859 2022
Author:Syx D, Delbaere S, Bui C, De Clercq A, Larson G, Mizumoto S, Kosho T, Fournel-Gigleux S, Malfait F.

Six years' accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures.
J Hum Genet. ,67(9):505-513 2022
Author:Takahashi Y, Date H, Oi H, Adachi T, Imanishi N, Kimura E, Takizawa H, Kosugi S, Matsumoto N, Kosaki K, Matsubara Y; IRUD Consortium, Mizusawa H.

希少疾患研究の醍醐味
日本学術会議中部地区会議ニュース,151:10-12 2022
Author:古庄知己

Neuropsychological and neurophysiological features of WAGR syndrome: Detailed comprehensive evaluation of a patient with severe intellectual disability and autism spectrum disorder.
Brain Dev. ,44(3):229-233 2022
Author:Nishizawa H, Motobayashi M, Akahane M, Wakui K, Kitazawa N, Inaba Y, Fukushima Y, Kosho T.

Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing.
J Hum Genet. ,67(7):387-392 2022
Author:Hiraide T, Shimizu K, Miyamoto S, Aoto K, Nakashima M, Yamaguchi T, Kosho T, Ogata T, Saitsu H.

A Case of Pure Gonadal Dysgenesis Whose Uterus was Safely Preserved during Prophylactic Laparoscopic Gonadectomy with Use of Hormone Replacement Therapy
The Shinshu Medical Journal,69(3):135-140 2021(Jun.)
Author:KOBARA Hisanori, OKA Kenji, SHINAGAWA Manaka, IDA Koichi, YAMADA Yasushi, MIYAMOTO Tsutomu, KOBARA Miyuki, ASAKA Shiho, KOSHO Tomoki, SHIOZAWA Tanri

Detailed clinical and radiological features of the first patient with Elsahy-Waters syndrome in East Asia.
Am J Med Genet A. ,185(12):3909-3915 2021
Author:Minatogawa M, Tsukahara Y, Yuzuriha S, Kosho T.

特集　発生学から考えてみよう！小児の先天疾患　Ⅰ．総論　先天異常総論
小児科診療,84(8):11-19 2021
Author:湊川真理、古庄知己

Early-onset Inflammatory Bowel Disease Caused by Mutations in the X-linked Gene IL2RG.
J Investig Allergol Clin Immunol ,31(1):69-71 2021
Author:Ogawa A, Watanabe T, Natsume T, Okura E, Saito S, Kato S, Nakayama Y, Furukawa S, Yamaguchi T, Kosho T, Uehara T, Kobayashi N, Agematsu K, Nakazawa Y, Shigemura T.

Expanding the phenotypic spectrum of cardiospondylocarpofacial syndrome: From a detailed clinical and radiological observation of a boy with a novel missense variant in MAP3K7.
Am J Med Genet A.,188(1):350-356 2021
Author:Minatogawa M, Miyake N, Tsukahara Y, Tanabe Y, Uchiyama T, Matsumoto N, Kosho T.

Myopathy Associated With Dermatan Sulfate-Deficient Decorin and Myostatin in Musculocontractural Ehlers-Danlos Syndrome: A Mouse Model Investigation.
Front Cell Dev Biol.,9:695021 2021
Author:Nitahara-Kasahara Y, Posadas-Herrera G, Mizumoto S, Nakamura-Takahashi A, Inoue YU, Inoue T, Nomura Y, Takeda S, Yamada S, Kosho T, Okada T.

Ehlers Danlos Syndrome with Glycosaminoglycan Abnormalities.
Adv Exp Med Biol. ,1348:235-249 2021
Author:Miyake N, Kosho T, Matsumoto N.

Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14(mcEDS-CHST14).
J Med Genet. 2021
Author:Minatogawa M, Unzaki A, Morisaki H, Syx D, Sonoda T, Janecke AR, Slavotinek A, Voermans NC, Lacassie Y, Mendoza-Londono R, Wierenga KJ, Jayakar P, Gahl WA, Tifft CJ, Figuera LE, Hilhorst-Hofstee Y, Maugeri A, Ishikawa K, Kobayashi T, Aoki Y, Ohura T, Kawame H, Kono M, Mochida K, Tokorodani C, Kikkawa K, Morisaki T, Kobayashi T, Nakane T, Kubo A, Ranells JD, Migita O, Sobey G, Kaur A, Ishikawa M, Yamaguchi T, Matsumoto N, Malfait F, Miyake N, Kosho T.

A new mouse model of Ehlers-Danlos syndrome generated using CRISPR/Cas9-mediated genomic editing.
Dis Model Mech. ,14(12):dmm048963 2021
Author:Nitahara-Kasahara Y, Mizumoto S, Inoue YU, Saka S, Posadas-Herrera G, Nakamura-Takahashi A, Takahashi Y, Hashimoto A, Konishi K, Miyata S, Masuda C, Matsumoto E, Maruoka Y, Yoshizawa T, Tanase T, Inoue T, Yamada S, Nomura Y, Takeda S, Watanabe A, Kosho T, Okada T.

特集　小児遺伝子疾患事典　Ⅰ．先天異常症候群　CHST14（関連疾患：Ehlers-Danlos症候群）
小児科診療,84(11):1431-1435 2021
Author:古庄知己

A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2.
J Hum Genet. ,66(11):1121-1126 2021
Author:Hara-Isono K, Matsubara K, Hamada R, Shimada S, Yamaguchi T, Wakui K, Miyazaki O, Muroya K, Kurosawa K, Fukami M, Ogata T, Kosho T, Kagami M.

Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis.
Am J Med Genet A. ,185(7):2175-2179 2021
Author:Hanafusa H, Hidaka Y, Yamaguchi T, Shimojo H, Tsukahara T, Murase T, Matsuoka D, Chiba N, Shimada S, Morokawa H, Omori N, Minoura H, Nagano C, Takano K, Nakamura K, Wakui K, Fukushima Y, Uehara T, Nakazawa Y, Iijima K, Nozu K, Kosho T.

A novel germline GATA2 frameshift mutation with a premature stop codon in a family with congenital sensory hearing loss and myelodysplastic syndrome.
Int J Hematol. ,114(2):286-291 2021
Author:Nakazawa H, Yamaguchi T, Sakai H, Maruyama M, Kawakami T, Kawakami F, Nishina S, Ishikawa M, Kosho T, Ishida F.

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation.
Sci Adv.,7(4):eaba2116 2021
Author:Beck DB, Basar MA, Asmar AJ, Thompson JJ, Oda H, Uehara DT, Saida K, Pajusalu S, Talvik I, D'Souza P, Bodurtha J, Mu W, Barañano KW, Miyake N, Wang R, Kempers M, Tamada T, Nishimura Y, Okada S, Kosho T, Dale R, Mitra A, Macnamara E; Undiagnosed Diseases Network, Matsumoto N, Inazawa J, Walkiewicz M, Õunap K, Tifft CJ, Aksentijevich I, Kastner DL, Rocha PP, Werner A.

Endoplasmic reticulum stress and collagenous formation anomalies in vascular-type Ehlers-Danlos syndrome via electron microscopy.
J Dermatol. ,48(4):481-485 2021
Author:Ishikawa S, Kosho T, Kaminaga T, Miyamoto M, Hamasaki Y, Yoshihara S, Hayashi S, Igawa K.

The First Experience of Denosmab Therapy on Patients with Ehlers-Danlos Syndrome and Osteoporosis: Detailed Observation of Two Patients.
Mod Rheumatol Case Rep.,:1-14 2021
Author:Yasukawa S, Uehara M, Suzuki T, Nakano M, Kosho T, Nakamura Y, Takahashi J.

Systematic Investigation of the Skin in Chst14-/- Mice: A Model for Skin Fragility in Musculocontractural Ehlers-Danlos Syndrome Caused by CHST14 Variants (mcEDS-CHST14).
Glycobiology ,31(2):137-150 2021
Author:Hirose T, Mizumoto S, Hashimoto A, Takahashi Y, Yoshizawa T, Nitahara-Kasahara Y, Takahashi N, Nakayama J, Takehana K, Okada T, Nomura Y, Yamada S, Kosho T(corresponding), Watanabe T(corresponding).

Intracranial and extracranial multiple arterial dissecting aneurysms in rheumatoid arthritis: A case report.
Interv Neuroradiol.,27(2):212-218 2021
Author:Uekawa K, Kaku Y, Amadatsu T, Matsuzaki H, Ohmori Y, Kawano T, Hirata S, Yamaguchi T, Kosho T, Mukasa A.

Early-onset Inflammatory Bowel Disease Caused by Mutations in the X-linked Gene IL2RG.
J Investig Allergol Clin Immunol ,31(1):69-71 2021
Author:Ogawa A, Watanabe T, Natsume T, Okura E, Saito S, Kato S, Nakayama Y, Furukawa S, Yamaguchi T, Kosho T, Uehara T, Kobayashi N, Agematsu K, Nakazawa Y, Shigemura T.

Marked motor function improvement in a 32-year-old woman with childhood-onset hypophosphatasia by asfotase alfa therapy: Evaluation based on standardized testing batteries used in Duchenne muscular dystrophy clinical trials.
Mol Genet Metab Rep. 2020
Author:Nishizawa H, Sato Y, Ishikawa M, Arakawa Y, Iijima M, Akiyama T, Takano K, Watanabe A, Kosho T.

Attitudes toward and current status of disclosure of secondary findings from next-generation sequencing: a nation-wide survey of clinical genetics professionals in Japan.
J Hum Genet. ,65(12):1045-1053 2020
Author:Tsuchiya M, Yamada T, Akaishi R, Hamanoue H, Hirasawa A, Hyodo M, Imoto I, Kosho T, Kurosawa K, Murakami H, Nakatani K, Nomura F, Sasaki A, Shimizu K, Tamai M, Umemura H, Watanabe A, Yoshida A, Yoshihashi H, Yotsumoto J, Kosugi S.

Posterior spinal fusion for severe spinal deformities in musculocontractural Ehlers-Danlos syndrome: Detailed observation of a novel Case and review of two reported cases.
World Neurosurg. ,143:454-461 2020
Author:Uehara M, Oba H, Hatakenaka T, Ikegami S, Kuraishi S, Takizawa T, Munakata R, Mimura T, Yamaguchi T, Kosho T, Takahashi J.

Backcrossing to an Appropriate Genetic Background Improves the Birth Rate of Carbohydrate Sulfotransferase 14 Gene-Deleted Mice.
Exp Anim ,69(4):407-413 2020
Author:Shimada S, Yoshizawa T, Takahashi Y, Nitahara-Kasahara Y, Okada T, Nomura Y, Yamanaka H, Kosho T, Matsumoto K.

The Ehlers-Danlos syndromes
Nat Rev Dis Primers.,6(1):64 2020
Author:Malfait F, Castori M, Francomano CA, Giunta C, Kosho T, Byers PH.

特集　難病研究の進歩　エーラス・ダンロス症候群．
生体の科学 ,71(5):488-489 2020
Author:古庄知己．

特集・臨床研究のための指針・法令を知る　ヒトゲノム・遺伝子解析研究における倫理指針．
Precision Medicine ,3(7):19-22 2020
Author:古庄知己．

ゲノム医療の提供体制構築と人材育成．
公衆衛生．,84(4):226-231 2020
Author:花房宏昭，古庄知己．

Recent advances in the pathophysiology of musculocontractural Ehlers-Danlos syndrome.
Genes ,11(1):43 2020
Author:Kosho T(corresponding), Mizumoto S, Watanabe T, Yoshizawa T, Miyake N, Yamada S,

Proximal Junctional Kyphosis After Posterior Spinal Fusion for Severe Kyphoscoliosis in a Patient With PIEZO2-deficient Arthrogryposis Syndrome.
Spine (Phila Pa 1976). ,45(10):E600-E604 2020
Author:Uehara M, Kosho T, Takano K, Inaba Y, Kuraishi S, Ikegami S, Oba H, Takaizawa T, Munakata R, Hatakenaka T, Takahashi J.

Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome.
Am J Med Genet A. ,182(5):994-1007 2020
Author:Ayoub S, Ghali N, Angwin C, Baker D, Baffini S, Brady AF, Giovannucci Uzielli ML, Giunta C, Johnson DS, Kosho T, Neas K, Pope FM, Rutsch F, Scarselli G, Sobey G, Vandersteen A, van Dijk FS.

A Case of Hereditary Breast and Ovarian Cancer Syndrome with Serous Tubal Intraepithelial Lesions in Bilateral Fimbriae Resected by Laparoscopic Risk-reducing Salpingo-oophorectomy
The Shinshu Medical Journal,67(3):209-215 2019(Jun.)
Author:KASHIMA Hiroyasu, OKA Kenji, SHINAGAWA Manaka, YAMANAKA Sakura, ONO Motoki, TAKEUCHI Hodaka, IDA Koichi, HIGUCHI Shotaro, YAMADA Yasushi, KOBARA Hisanori, KIKUCHI Norihiko, MIYAMOTO Tsutomu, TACHIBANA Ryota, FUKUSHIMA Yoshimitsu, KOSHO Tomoki, IESATO Asumi, ITO Ken-ichi, ASAKA Shiho, UEHARA Takeshi, SHIOZAWA Tanri

Delineation of musclocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency.
Medical Genetics & Genomic Medicine ,8(5):e1197, 2019
Author:Lautrup CK#, Teik KW#, Unzaki A#, Mizumoto S, Syx D, Sin HH, Nielsen IK, Markholt S, Yamada S, Malfait F, Matsumoto N, Miyake N, Kosho T(corresponding).

Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss.
Genes (Basel),10(9): pii: E715 2019
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.

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
J Hum Genet,64(12):1173-1186 2019
Author:Sekiguchi F, Tsurusaki Y, Okamoto N, et. al.

腎動脈破裂で発症し，次世代シークエンサーを用いて診断に至った血管型エーラス・ダンロス症候群の1例．
心臓 ,51(9):949-955 2019
Author:佐野幸恵，小板橋紀通，渋谷圭，宮崎将也，山口智美，中野考英，長坂崇司，佐藤万基人，梅山敦，船田竜一，古庄知己，倉林正彦．

Familial Aortic Dissection in a Young Adult Caused by MYH11 Gene Mutation
The Annals of thoracic surgery,108(1):e49 2019
Author:Yamasaki M, Abe K, Kosho T, Yamaguchi T.

A case of septo-optic dysplasia with hereditary hemorrhagic telangiectasia: a previously unrecognized combination of malformations
Clinical dysmorphology ,29(1):49-52 2019
Author:Kawano-Matsuda F, Shimada Y, Omotobara-Yabe T, Itonaga T, Maeda M, Maeda T, Yamaguchi T, Kosho T, Ihara K

A novel CACNA1A nonsense variant in a patient presenting with paroxysmal exertion-induced dyskinesia.
J Neurol Sci ,399:214-216 2019
Author:Ogawa Y, Nakamura K b, Ezawa N, Yamaguchi T, Yoshinaga T, Miyazaki D, Kosho T, Sekijima T.

PIEZO2 deficiency is a recognizable arthrogryposis syndrome: a new case and literature review.
Am J Med Genet A,179(6):948-957 2019
Author:Yamaguchi T#, Takano K#, Inaba Y, Morikawa M, Motobayashi M, Kawamura R, Wakui K, Nishi E, Hirabayashi S, Fukushima Y, Kato H, Takahashi J, Kosho T b.

Efficacy of denosumab therapy for a 21-year-old woman with Prader-Willi syndrome, osteoporosis and history of fractures: a case report.
Ther Clin Risk Manag. ,25(15):303-307 2019
Author:Uehara M, Nakamura Y, Takahashi J, Suzuki T, Iijima M, Arakawa Y, Ida K, Kosho T, Kato H.

Extremely young case of small bowel intussusception due to Peutz-Jeghers syndrome with nonsense mutation of STK11
Clinical journal of gastroenterology,12(5):429-433 2019
Author:Sado T, Nakayama Y, Kato S, Homma H, Kusakari M, Hidaka N, Gomi S, Takamizawa S, Kosho T, Saito S, Sugano K

Frequency and clinical features of hearing loss caused by STRC deletions
Scientific reports ,9(1):4408 2019
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 S

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Genet Med. ,21(6):1295-1307 2019
Author:an der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; et al.

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 ,1863:623-631 2019
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♭.

Spinal manifestations in 12 patients with musculocontractural Ehlers-Danlos syndrome caused by CHST14/D4ST1 deficiency (mcEDS-CHST14).
Am J Med Genet A. ,176:2331-2341 2018(Jun.)
Author:Uehara M, Kosho T, Yamamoto N, Takahashi HE, Shimakura T, Nakayama J, Kato H, Takahashi J

ビタミンB6が著効したALAS2 R452H変異陽性X連鎖性鉄芽球性貧血
臨床血液,59(4):401-406 2018
Author:川上徹, 中澤英之, 川上史裕, 松澤周治, 須藤裕里子, 酒井均, 仁科さやか, 妹尾紀子, 妹尾寧, 小松通治, 梅村武司, 山口智美, 古庄知己, 藤原亨, 張替秀郎, 石田文宏

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
Author:Uehara M, Nakamura Y, Takahashi J, Kamimura M, Isobe F, Yamaguchi T, Kosho T, Uchiyama S, Suzuki T, Kato H.

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

Efficacy of Denosumab for Glucocorticoid-Induced Osteoporosis in an Adolescent Patient with Duchenne Muscular Dystrophy: A Case Report.
JBJS Case Connect.,8:e22 2018
Author:Kumaki D, Nakamura Y, Sakai N, Kosho T, Nakamura A, Hirabayashi S, Suzuki T, Kamimura M, Kato H.

Examining the Validity of Efforts of the Muscular Dystrophy Medical Network in Nagano : A Questionnaire Study
The Shinshu Medical Journal,66(3):205-212 2018
Author:Nishizawa H, Takahashi H, Aoki K, Kosho T, Inaba Y, Nakamura A

Clinical courses of children with trisomy 13 receiving intensive neonatal and pediatric treatment.
Am J Med Genet A. ,176:1941-1949 2018
Author:Nishi E, Takasugi M, Kawamura R, Shibuya S, Takamizawa S, Hiroma T, Nakamura T, Kosho T

遺伝性乳がん卵巣がん症候群における遺伝カウンセリング受診者の臨床的特徴：信州大学医学部附属病院における20年間の取り組みから
日本遺伝カウンセリング学会誌,39(1):53-59 2018
Author:家里明日美，黄瀬恵美子，石川真澄，山本佳那，大場崇旦，伊藤勅子，金井敏晴，前野一真，山下浩美，髙野亨子，鹿島大靖，菊地範彦，宮本強，塩沢丹里，福嶋義光，伊藤研一，古庄知己

Safety and efficacy of noncardiac surgical procedures in the management of patients with trisomy 13: A single institution-based detailed clinical observation.
Am J Med Genet A. ,176(5):1137-1144 2018
Author:Shibuya S, Miyake Y, Takamizawa S, Nishi E, Yoshizawa K, Hatata T, Yoshizawa K, Fujita K, Noguchi M, Ohata J, Hiroma T, Nakamura T, Kosho T.

Myelodysplastic syndrome in an infant with constitutional pure duplication 1q41-qter.
Hum Genome Var. ,5:6 2018
Author:Morokawa H, Kamiya M, Wakui K, Kobayashi M, Kurata T, Matsuda K, Kawamura R, Kanno H, Fukushima Y, Nakazawa Y, Kosho T.

Peripartum Iliac Arterial Aneurysm and Rupture in a Patient with Vascular Ehlers-Danlos Syndrome Diagnosed by Next Generation Sequencing.
Int Heart J in press,59:1180-1185 2018
Author:Koitabashi N, Yamaguchi T, Fukui D, Nakano T, Umeyama A, Toda K, Funada R, Okada K, Hatamochi A, Kosho T, Kurabayashi M.

Vascular abnormalities in the placenta of Chst14-/- fetuses: implications in the pathophysiology of perinatal lethality of the murine model and vascular lesions in human CHST14/D4ST1 deficiency.
Glycobiology. ,28:80-89 2018
Author:Yoshizawa T, Mizumoto S, Takahashi Y, Shimada S, Sugahara K, Nakayama J, Takeda S, Nomura Y, Nitahara-Kasahara Y, Okada T, Matsumoto K, Yamada S, Kosho T.

Hepatomegaly in a boy with ARID1B-related Coffin-Siris syndrome.
Pediatr Int. ,60:378-380 2018
Author:Natsume T, Takano K, Motobayashi M, Kosho T.

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.

Clinical features of a female with WDR45 mutation complicated by infantile spasms: a case report and literature review.
Brain Dev,39(9):804-807 2017(Oct.)
Author:Morikawa M, Takano K, Motobayashi M, Shiba N, Kosho T, Nakazawa Y, Inaba Y.

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.

【遺伝性がんはここまで解明された】耳鼻咽喉科領域の遺伝性がん
成人病と生活習慣病,47(7):903-907 2017(Jul.)
Author:古庄知己

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.

【出生前診断と遺伝カウンセリング】遺伝診療における産婦人科と小児科の考え方の違い
産婦人科の実際,66(4):491-496 2017(Apr.)
Author:古庄知己

Hypohidrotic ectodermal dysplasia: A report of two cases.
J Dermatol,44(4):479-481 2017(Apr.)
Author:Miyake T, Kiniwa Y, Kosho T, Nakano H, Okuyama R.

【精神医学症候群(第2版)-発達障害・統合失調症・双極性障害・抑うつ障害-】神経発達症群/神経発達障害群　遺伝的要因による神経発達障害　染色体異常　5p-症候群
日本臨床,別冊(精神医学症候群I):143-146 2017(Mar.)
Author:古庄知己

Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders.
Pharmaceuticals (Basel),10(2):E34 2017(Mar.)
Author:Mizumoto S, Kosho T, Yamada S, Sugahara K.

Painful locking of the wrist in a patient with pseudoachondroplasia confirmed by COMP mutation.
J Surg Case Rep,2017(1):rjw216 2017(Jan.)
Author:Ideta H, Uchiyama S, Hayashi M, Kosho T, Nakamura Y, 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. ,264:227-233 2017
Author:山口智美，古庄知己．

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

NOTCH2 Hajdu-Cheney Mutations Escape SCFFBW7-Dependent Proteolysis to Promote Osteoporosis.
Mol Cell. ,68:645-658 2017
Author:Fukushima H, Shimizu K, Watahiki A, Hoshikawa S, Kosho T, Oba D, Sakano S, Arakaki M, Yamada A, Nagashima K, Okabe K, Fukumoto S, Jimi E, Bigas A, Nakayama KI, Nakayama K, Aoki Y, Wei W, Inuzuka H.

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

Rigid Occipitocervical Instrumented Fusion for Atlantoaxial Instability in an 18-month-old Toddler with Brachytelephalangic Chondrodysplasia Punctata: A Case Report.
Spine (Phila Pa,:in press 2017
Author:Oba H, Takahashi J, Takano K, Inaba Y, Motobayashi M, Nishimura G, Kuraishi S, Shimizu M, Ikegami S, Futatsugi T, Uehara M, Kosho T, Kato H, Uno K.

【先天異常症候群の新しい展開】日本が貢献した先天異常症候群　Ehlers-Danlos症候群Kosho type　デルマタン4-O-硫酸基転移酵素-1欠損に基づく新型エーラスダンロス症候群の発見と疾患概念の確立
小児科診療,79(12):1761-1769 2016(Dec.)
Author:古庄知己

【周産期医学必修知識第8版】　新生児編性染色体異常症
周産期医学,46(増刊):542-544 2016(Dec.)
Author:古庄知己

【周産期医学必修知識第8版】　新生児編常染色体異常症
周産期医学,46(増刊):545-549 2016(Dec.)
Author:古庄知己

指定難病最前線(Volume26)　エーラスダンロス症候群の特徴と治療の現状
新薬と臨牀,65(11):1548-1554 2016(Nov.)
Author:古庄知己

Exome sequencing-based identification of mutations in non-syndromic genes among individuals with apparently syndromic features.
Am J Med Genet A,170(11):2889-2894 2016(Nov.)
Author:Nishi E, Masuda K, Arakawa M, Kawame H, Kosho T, Kitahara M, Kubota N, Hidaka E, Katoh Y, Shirahige K, Izumi K.

Challenges of Transarticular Screw Fixation in Young Children: Report of Surgical Treatment of a 5-Year-Old Patient's Unstable Os-Odontoideum.
Asian Spine J,10(5):950-954 2016(Oct.)
Author:Takahashi J, Hirabayashi H, Hashidate H, Ogihara N, Mukaiyama K, Komatsu M, Inaba Y, Kosho T, Kato H.

Decreased Aortic Elasticity in Children With Marfan Syndrome or Loeys-Dietz Syndrome.
Circ J,80(11):2369-2375 2016(Oct.)
Author:Akazawa Y, Motoki N, Tada A, Yamazaki S, Hachiya A, Matsuzaki S, Kamiya M, Nakamura T, Kosho T, Inaba Y.

【最新遺伝医学研究と遺伝カウンセリング(シリーズ1)　最新遺伝性腫瘍・家族性腫瘍研究と遺伝カウンセリング】 (第3章)がん遺伝カウンセリング各論　がん遺伝カウンセリングのフォローアップ、マネジメント
遺伝子医学MOOK,別冊(最新遺伝性腫瘍・家族性腫瘍研究と遺伝カウンセリング):269-272 2016(Aug.)
Author:石川真澄, 黄瀬恵美子, 古庄知己

Dermatan 4-O-sulfotransferase 1-deficient Ehlers-Danlos syndrome complicated by a large subcutaneous hematoma on the back.
J Dermatol,43(7):832-3 2016(Jul.)
Author:Mochida K, Amano M, Miyake N, Matsumoto N, Hatamochi A, Kosho T.

【ガイドラインと最新文献による小児科学レビュー2016-'17】　疾患編遺伝・先天奇形・染色体異常　染色体異常、先天奇形症候群
小児科学レビュー,2016-'17:51-61 2016(May)
Author:古庄知己

【小児の症候群】　染色体異常・先天奇形症候群 13トリソミー症候群
小児科診療,79(増刊):9 2016(Apr.)
Author:西恵理子, 古庄知己

【小児の症候群】　染色体異常・先天奇形症候群 18トリソミー症候群
小児科診療,79(増刊):10 2016(Apr.)
Author:古庄知己

【小児の症候群】　染色体異常・先天奇形症候群神経線維腫症I型(von Recklinghausen病)
小児科診療,79(増刊):74 2016(Apr.)
Author:古庄知己

SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements.
J Hum Genet,61(4):335-43 2016(Apr.)
Author:Uehara DT, Hayashi S, Okamoto N, Mizuno S, Chinen Y, Kosaki R, Kosho T, Kurosawa K, Matsumoto H, Mitsubuchi H, Numabe H, Saitoh S, Makita Y, Hata A, Imoto I, Inazawa J.

Does medical intervention affect outcome in infants with trisomy 18 or trisomy 13?
Am J Med Genet A,170A(4):847-9 2016(Apr.)
Author:Kosho T, Carey JC.

【周産期と死亡を考える】致死率の高い新生児疾患への対応　先天異常
周産期医学,46(3):367-369 2016(Mar.)
Author:古庄知己

CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome.
Pediatr Int,58(2):88-99 2016(Feb.)
Author:Kosho T.

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.

Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.
Clin Genet,89(1):115-9 2016(Jan.)
Author:Miyake N, Tsurusaki Y, Koshimizu E, Okamoto N, Kosho T, Brown NJ, Tan TY, Yap PJ, Suzumura H, Tanaka T, Nagai T, Nakashima M, Saitsu H, Niikawa N, Matsumoto N.

Perspectives on the care and advances in the management of children with trisomy 13 and 18.
Am J Med Genet C Semin Med Genet,172(3):249-250 2016
Author:Carey JC, Kosho T

A 45-year-old Woman with Ehlers-Danlos Syndrome Caused by Dermatan 4-O-sulfotransferase-1 Deficiency: Implications for Early Ageing.
Acta Derm Venereol,96(6):830-831 2016
Author:Kono M, Hasegawa-Murakami Y, Sugiura K, Ono M, Toriyama K, Miyake N, Hatamochi A, Kamei Y, Kosho T, Akiyama M

Reversible cerebral vasoconstriction syndrome and posterior reversible encephalopathy syndrome in a boy with Loeys-Dietz syndrome.
Am J Med Genet A. ,167(10):2435-2439 2015
Author:Akazawa Y, Inaba Y (corresponding author), Hachiya A, Motoki N, Matsuzaki S, Minatoya K, Morisaki T, Morisaki H, Kosaki K, Kosho T (corresponding author), Koike K.

Renal complications in 6p duplication syndrome: microarray-based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS).
Am J Med Genet A,167A(3):592-601 2015
Author:Yoshimura-Furuhata M, Nishimura-Tadaki A, Amano Y, Ehara T, Hamasaki Y, Muramatsu M, Shishido S, Aikawa A, Hamada R, Ishikura K, Hataya H, Hidaka Y, Noda S, Koike K, Wakui K, Fukushima Y, Matsumoto N, Awazu M, Miyake N, Kosho T (corresponding author).

Aggressive change of a carotid-cavernous fistula in a patient with Ehlers-Danlos syndrome type IV
Interv Neuroradiol.,21(3):341-345 2015
Author:Kojima A, Saga I, Tomio R, Kosho T, Hatamochi A

Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations
Clin Genet,89(1):115-119 2015
Author:Miyake N, Tsurusaki Y, Koshimizu E, Okamoto N, Kosho T, Brown NJ, Tan TY, Yap PJ, Suzumura H, Tanaka T, Nagai T, Nakashima M, Saitsu H, Niikawa N, Matsumoto N.

ARID1B-CSS consortium. The ARID1B phenotype: what we have learned so far.
,166C(3):276-289 2014
Author:Santen GW, Clayton-Smith J,Kosho T,et al.

Hennekam RC; Nicolaides-Baraitser Syndrome International Consortium. Phenotype and genotype in Nicolaides-Baraitser syndrome
Am J Med Genet C Semin Med Genet,166C(3):302-314 2014
Author:Sousa SB, Hennekam RC,Kosho T,et al.

A case of Kindler syndrome with severe esophageal stenosis.
Int J Dermatol ,54(4):106-108 2014
Author:Ohashi A, Kiniwa Y, Kosho T, Suga T, Has C, Kubo H, Okuyama R.

Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation.
Mol Cytogenet,13(7):55 2014
Author:Mishra D, Kato T, Inagaki H, Kosho T, Wakui K, Kido Y, Sakazume S, Taniguchi-Ikeda M, Morisada N, Iijima K, Fukushima Y, Emanuel BS, Kurahashi H.

Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C
J Hum Genet,60(2):91-95 2014
Author:Nakashima S, Kato F, Kosho T, Nagasaki K, Kikuchi T, Kagami M, Fukami M, Ogata T

Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex.
Orphanet J Rare Dis. ,21(9):125 2014
Author:Nagata E, Kano H, Kato F, Yamaguchi R, Nakashima S, Takayama S, Kosaki R, Tonoki H, Mizuno S, Watanabe S, Yoshiura KI, Kosho T, Hasegawa T, Kimizuka M, Suzuki A, Shimizu K, Ohashi H, Haga N, Numabe H, Horii E, Nagai T, Yoshihashi H, Nishimura G, Toda T, Takada S, Yokoyama S, Asahara H, Sano S, Fukami M, Ikegawa S, Ogata T.

Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature.
Am J Med Genet A.,164A(5):1272-1276 2014
Author:Narumi Y, Nishina S, Tokimitsu M, Aoki Y, Kosaki R, Wakui K, Azuma N, Murata T, Takada F, Fukushima Y, Kosho T.

Ehlers-danlos syndrome associated with glycosaminoglycan abnormalities.
Adv Exp Med Biol.,802:145-159 2014
Author:Miyake N, Kosho T, Matsumoto N.

A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines.
Am J Med Genet A,167(2):407-411 2014
Author:Nishi E, Mizuno S, Nanjo Y, Niihori T, Fukushima Y, Matsubara Y, Aoki Y, Kosho T (corresponding author).

Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: Historical review and recent advances using next generation sequencing.
Am J Med Genet C Semin Med Genet.,166(3):241-251 2014
Author:Kosho T (corresponding author), Miyake N, Carey JC.

Coffin-Siris Syndrome International Collaborators. Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A
Am J Med Genet C Semin Med Genet,166(3):262-275 2014
Author:Kosho T (corresponding author), Okamoto N

信州大学医学部附属病院遺伝子診療部の取り組み～小児科出身の臨床遺伝科医として思うこと
日本遺伝カウンセリング学会誌,35(1):15-26 2014
Author:古庄知己

Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan
JOURNAL OF HUMAN GENETICS,58(8):560-563 2013(Aug.)
Author:Tanaka, K; Sekijima, Y; Yoshida, K; Tamai, M; Kosho, T; Sakurai, A; Wakui, K; Ikeda, S; Fukushima, Y

A novel de novo point mutation of the OCT-binding site in the IGF2/H19-imprinting control region in a Beckwith-Wiedemann syndrome patient.
Clin Genet.,86(6):539-44 2013
Author:Higashimoto K, Jozaki K, Kosho T, Matsubara K, Fuke T, Yamada D, Yatsuki H, Maeda T, Ohtsuka Y, Nishioka K, Joh K, Koseki H, Ogata T, Soejima H.

MLL2 and KDM6A mutations in patients with Kabuki syndrome.
Am J Med Genet A,161(9):2234-2243 2013
Author:Miyake N, Koshimizu E, Okamoto N, et al.

Lamellar ichthyosis in a collodion baby caused by CYP4F22 mutations in a non-consanguineous family outside the Mediterranean.
J Dermatol Sci ,72(2):193-195 2013
Author:Sugiura K, Takeichi T, Tanahashi K, Ito Y, Kosho T, Saida K, Uhara H, Okuyama R, Akiyama M.

Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients.
J Hum Genet,58(7):455-460 2013
Author:Nitta H, Unoki M, Ichiyanagi K, Kosho T, Shigemura T, Takahashi H, Velasco G, Francastel C, Picard C, Kubota T, Sasaki H.

デルマタン4-O-硫酸基転移酵素-1欠損に基づく新型エーラスダンロス症候群の発見と疾患概念の確立．
日本遺伝カウンセリング学会誌,34(1):21-29 2013
Author:古庄知己

遺伝カウンセリングロールプレイ実習～全人的医学教育としての取り組み～
日本遺伝カウンセリング学会誌,34(1):17-20 2013
Author:古庄知己

Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome.
Am J Med Genet Part A,164A(3):597-609 2013
Author:Shimizu K, Wakui K, Kosho T (corresponding author), Okamoto N, Mizuno S, Itomi K, Hattori S, Nishio K, Samura O, Kobayashi Y, Kako Y, Arai T, Oishi T, Kawame H, Narumi Y, Ohashi H, Fukushima Y.

Surgical intervention for esophageal atresia in patients with trisomy 18
Am J Med Genet Part A,164(2):324-330 2013
Author:Nishi E, Takamizawa S, Iio K, Yamada Y, Yoshizawa K, Hatata T, Hiroma T, Mizuno S, Kawame H, Fukushima Y, Nakamura T, Kosho T (corresponding author).

Natural history and parental experience of children with trisomy 18 based on a questionnaire given to a Japanese trisomy 18 parental support group.
Am J Med Genet Part A,161A(7):1531-1542 2013
Author:Kosho T (corresponding author), Kuniba H, Tanikawa Y, Hashimoto Y, Sakurai H.

Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature.
Am J Med Genet Part A,161A(6):1221-1237 2013
Author:Kosho T (corresponding author), Okamoto N, Ohashi H, Tsurusaki Y, Imai Y, Hibi-Ko Y, Kawame H, Homma T, Tanabe S, Kato M, Hiraki Y, Yamagata T, Yano S, Sakazume S, Ishii T, Nagai T, Ohta T, Niikawa N, Mizuno S, Kaname T, Naritomi K, Narumi Y, Wakui K, Fukushima Y, Miyatake S, Mizuguchi T, Saitsu H, Miyake N, Matsumoto N

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
Nat Genet,44(4):376-378 2012
Author:Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N

[Case with intrauterine fetus death: interphase fluorescence in situ hybridization using buccal cells is useful for examining chromosomal abnormalities when placental villus not available]
Rinsho Byori.,60(1):32-36 2012
Author:Takezawa Y, Kosho T, Matsuda K, Taira C, Ito Y, Hidaka E, Sugano M, Narumi Y, Mizuuchi A, Kobara H, Wakui K, Okumura N, Fukushima Y, Honda T.

Myelodysplastic syndrome in a child with 15q24 deletion syndrome
Am J Med Genet A,158A(2):412-416 2012
Author:Narumi Y, Shiohara M, Wakui K, Hama A, Kojima S, Yoshikawa K, Amano Y, Kosho T, Fukushima Y

Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients.
Clin Genet,83(2):135-144 2012
Author:Tsurusaki Y, Kosho T (equal contribution, corresponding author), Hatasaki K, Narumi Y, Wakui K, Fukushima Y, Doi H, Saitsu H, Miyake N, Matsumoto N.

Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing.
Am J Med Genet Part A,158A(4):772-778 2012
Author:Kondo E, Nishimura T, Kosho T (corresponding author), Inaba Y, Mitsuhashi S, Ishida T, Baba A, Koike K, Nishino I, Nonaka I, Furukawa T, Saito K.

Neurodevelopmental features in 2q23.1 microdeletion syndrome: report of a new patient with intractable seizures and review of literature.
Am J Med Genet A,158A(4):861-868 2012
Author:Motobayashi M, Nishimura-Tadaki A, Inaba Y, Kosho T (corresponding author), Miyatake S, Niimi T, Nishimura T, Wakui K, Fukushima Y, Matsumoto N, Koike K.

De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathy
Am J Med Genet A,155A(11):2879-2884 2011
Author:Saitsu H, Igarashi N, Kato M, Okada I, Kosho T, Shimokawa O, Sasaki Y, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Harada N, Hayasaka K, Matasumoto N

Sigmoid colon perforation induced by the vascular type of Ehlers-Danlos syndrome: report of a case
Surg Today,41:733-736 2011
Author:Omori H, Hatamochi A, Koike M, Sato Y, Kosho T, Kitakado Y, Oe T, Mukai T, Hari Y, Takahashi Y, Takubo K

Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure
J Hum Genet,56(2):156-160 2011
Author:Nishimura-Tadaki A, Wada T, Bano G, Gough K, Warner J, Kosho T, Ando N, Hamanoue H, Sakakibara H, Nishimura G, Tsurusaki Y, Doi H, Miyake N, Wakui K, Saitsu H, Fukushima Y, Hirahara F, Matsumoto N

Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies
J Hum Genet,56(2):110-124 2011
Author:Hayashi S, Imoto I, Aizu Y, Okamoto N, Mizuno S, Kurosawa K, Okamoto N, Honda S, Araki S, Mizutani S, Numabe H, Saitoh S, Kosho T, Fukushima Y, Mitsubuchi H, Endo F, Chinen Y, Kosaki R, Okuyama T, Ohki H, Yoshihashi H, Ono M, Takada F, Ono H, Yagi M, Matsumoto H, Makita Y, Hata A, Inazawa J

Leg ulcers associated with positive lupus anticoagulant in two cases of Klinefelter's syndrome
Acta Derm Venereol,91(1):90-91 2011
Author:Goto Y, Uhara H, Murata H, Koga H, Kosho T, Yamazaki M, Takata M, Okuyama R

Discovery and Delineation of a New Type of Ehlers-Danlos Syndrome Caused by Dermatan 4-O-sulfotransferase Deficiency
The Shinshu Medical Journal,59(5):305-319 2011
Author:Kosho T

A response to: Loss of dermatan-4-sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, “Dermatan sulfate-deficient adducted thumb-clubfoot syndrome”. Which name is appropriate, “adducted thumb-clubfoot syndrome” or “Ehlers-Danlos syndrome”?
Hum Mutat,32:1507-1509 2011
Author:Kosho T, Miyake N, Mizumoto S, Hatamochi A, Fukushima Y, Sugahara K, Matsumoto N.

Implantable Cardioverter Defibrillator for Progressive Hypertrophic Cardiomyopathy in a Patient with LEOPARD Syndrome and a Novel PTPN11 Mutation Gln510His.
Am J Med Genet Part A,155A(10):2529-2533 2011
Author:Wakabayashi Y, Yamazaki K, Narumi Y, Fuseya S, Horigome M, Wakui K, Fukushima Y, Matsubara Y, Aoki Y, Kosho T (corresponding author).

Delineation of Dermatan 4-O-sulfotransferase 1 Deficient Ehlers-Danlos Syndrome: Observation of Two Additional Patients and Comprehensive Review of 20 Reported Patients.
Am J Med Genet Part A,155A:1949-1958 2011
Author:Shimizu K, Okamoto N, Miyake N, Taira K, Sato Y, Matsuda K, Akimaru N, Ohashi H, Wakui K, Fukushima Y, Matsumoto N, Kosho T (equal contribution, corresponding author).

Successful Pregnancy and Lactation Outcome in a Patient With Gaucher Disease Receiving Enzyme Replacement Therapy, and the Subsequent Distribution and Excretion of Imiglucerase in Human Breast Milk
CLINICAL THERAPEUTICS,32(12):2048-2052 2010(Nov.)
Author:Sekijima, Yoshiki; Ohashi, Toya; Ohira, Satoshi; Kosho, Tomoki; Fukushima, Yoshimitsu

Genital abnormalities in Pallister-Hall syndrome: Report of two patients and review of the literature
Am J Med Genet A,152A(12):3143-3147 2010
Author:Narumi Y, Kosho T, Tsuruta G, Shiohara M, Shimazaki E, Mori T, Shimizu A, Igawa Y, Nishizawa S, Takagi K, Kawamura R, Wakui K, Fukushima Y.

Clinical and genetic features of 20 Japanese patients with vascular-type Ehlers-Danlos syndrome.
Br J Dermatol,163(4):704-710 2010
Author:Shimaoka Y, Kosho T, Wataya-Kaneda M, Funakoshi M, Suzuki T, Hayashi S, Mitsuhashi Y, Isei T, Aoki Y, Yamazaki K, Ono M, Makino K, Tanaka T, Kunii E, Hatamochi A.

難治性疾患克服研究事業による血管型エーラスダンロス症候群の実態調査．
日本遺伝カウンセリング学会誌,31(3):157-161 2010
Author:古庄知己，渡邉淳，森崎裕子，福嶋義光，籏持淳

Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.
Hum Mutat,31(8):966-974 2010
Author:Miyake N, Kosho T(equal contribution), Mizumoto S, Furuichi T, Hatamochi A, Nagashima Y, Arai E, Takahashi K, Kawamura R, Wakui K, Takahashi J, Kato H, Yasui H, Ishida T, Ohashi H, Nishimura G, Shiina M, Saitsu H, Tsurusaki Y, Doi H, Fukushima Y, Ikegawa S, Yamada S, Sugahara K, Matsumoto N.

A New Ehlers-Danlos Syndrome With Craniofacial Characteristics, Multiple Congenital Contractures, Progressive Joint and Skin Laxity, and Multisystem Fragility-related Manifestations.
Am J Med Genet Part A,152A(6):1333-1346 2010
Author:Kosho T, Miyake N, Hatamochi A, Takahashi J, Kato H, Miyahara T, Igawa Y, Yasui H, Ishida T, Ono K, Kosuda T, Inoue A, Kohyama M, Hattori T, Ohashi H, Nishimura G, Kawamura R, Wakui K, Fukushima Y, Matsumoto N

18トリソミーの自然歴およびマネジメントの確立をめざして
日本小児科学会誌,114(4):637-645 2010
Author:古庄知己

Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation.
Am J Med Genet A,152A(3):764-769 2010
Author:Yamazaki M, Kosho T (equal contribution, corresponding author), Kawachi S, Mikoshiba M, Takahashi J, Sano R, Oka K, Yoshida K, Watanabe T, Kato H, Komatsu M, Kawamura R, Wakui K, Knappskog PM, Boman H, Fukushima Y.

Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B.
Am J Med Genet A,152A(2):417-421 2010
Author:Muramatsu Y, Kosho T (corresponding author), Magota M, Yokotsuka T, Ito M, Yasuda A, Kito O, Suzuki C, Nagata Y, Kawai S, Ikoma M, Hatano T, Nakayama M, Kawamura R, Wakui K, Morisaki H, Morisaki T, Fukushima Y

今月の症例　習慣性の腸管破裂にてEhlers-Danlos症候群と判明した1例
日本内科学会雑誌,98(4):140-142 2009
Author:佐畑貴之，津田聡，山岸俊夫，阿保昌樹，実方一典，青木洋子，古庄知己，籏持淳

医学部新入生は「遺伝」をどうとらえているか　遺伝医学教育充実の必要性
医学教育,39(2):97-101 2008
Author:櫻井晃洋，古庄知己, 和田敬仁, 涌井敬子, 福嶋義光

Bilateral Perisylvian Polymicrogyria, Periventricular Nodular Heterotopia, and Left Ventricular Noncompaction in a girl with 10.5-11.1 Mb Terminal Deletion of 1p36.
Am J Med Genet A,146A(22):2891-2897 2008
Author:Saito S, Kawamura R, Kosho T (corresponding author), Shimizu T, Aoyama K, Koike K, Wada T, Matsumoto N, Kato M, Wakui K, Fukushima Y.

De-novo balanced translocation between 7q31 and 10p14 in a girl with central precocious puberty, moderate mental retardation, and severe speech impairment.
Clin Dysmorphol,17(1):31-34 2008
Author:Kosho T, Sakazume S, Kawame H, Wakui K, Wada T, Okoshi Y, Mikawa M, Hasegawa T, Matsuura N, Niikawa N, Matsumoto N, Fukushima Y

Invited Comment: Care of children with trisomy 18 in Japan.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,146A(11):1369-1371 2008
Author:Kosho, T

Screening for Alagille syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatography.
Genet Test ,11(3):216-227 2007
Author:Samejima H, Torii C, Kosaki R, Kurosawa K, Yoshihashi H, Muroya K, Okamoto N, Watanabe Y, Kosho T, Kubota M, Matsuda O, Goto M, Izumi K, Takahashi T, Kosaki K

Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency
J Hum Genet ,52(4):349-354 2007
Author:Keiji Kurokawa, Tohru Yorifuji, Masahiko Kawai, Toru Momoi, Hironori Nagasaka, Masaki Takayanagi, Keiko Kobayashi, Makoto Yoshino, Tomoki Kosho, Masanori Adachi, Harumi Otsuka, Shigenori Yamamoto, Toshiaki Murata, Akihito Suenaga, Tsutomu Ishii, Kihei Terada, Naoto Shimura, Koji Kiwaki, Haruo Shintaku, Masaru Yamakawa, Hiroki Nakabayashi, Tatsutoshi Nakahata

日本における18トリソミーの予後
日本未熟児新生児学会雑誌,19(1):38-42 2007
Author:古庄知己

Genetic aspect of the vascular type Ehlers-Danlos syndrome (vEDS, RDSⅣ) in Japan.
Circ J ,71(2):261-265 2007
Author:Watanabe A, Kosho T, Wada T, Sakai N, Fujimoto M, Fukushima Y, Shimada T.

Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes.
Am J Med Genet A,143(21):2598-2603 2007
Author:Kosho T, Takahashi J, Momose T, Nakamura A, Sakurai A, Wada T, Yoshida K, Wakui K, Suzuki T, Kasuga K, Nishimura G, Kato H, Fukushima Y

Brothers with genu recurvatum
KNEE,14(6):500-501 2007
Author:Saito, N; Tensyo, K; Horiuchi, H; Aoki, K; Kobayashi, S; Kato, H; Kosho, T

BAC array CGH reveals genomic aberrations in idiopathic mental retardation
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,140A(3):205-211 2006
Author:Miyake, N; Shimokawa, O; Harada, N; Sosonkina, N; Okubo, A; Kawara, H; Okamoto, N; Kurosawa, K; Kawame, H; Iwakoshi, M; Kosho, T; Fukushima, Y; Makita, Y; Yokoyama, Y; Yamagata, T; Kato, M; Hiraki, Y; Nomura, M; Yoshiura, K; Kishino, T; Ohta, T; Mizuguchi, T; Niikawa, N; Matsumoto, N

Neonatal management of trisomy 18: Clinical details of 24 patients receiving intensive treatment
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,140A(9):937-944 2006
Author:Kosho, T; Nakamura, T; Kawame, H; Baba, A; Tamura, M; Fukushima, YL

Ring syndrome involving chromosome 2 confirmed by fish analysis using chromosome-specific subtelomeric probes
GENETIC COUNSELING,16(1):65-70 2005
Author:Kosho, T; Matsushima, K; Sahashi, T; Mitsu, N; Fukushima, Y; Sobajima, H; Ohashi, H

ダウン症候群と遺伝カウンセリング
産婦人科の実際,54:2217-2225 2005
Author:古庄知己

遺伝カウンセリングケースレポート
小児科診療,68:950-952 2005
Author:古庄知己

染色体異常児のフォローアップ
周産期医学,35:529-534 2005
Author:古庄知己

医学教育における遺伝カウンセリング・ロールプレイ実習
家族性腫瘍,5:51-56 2005
Author:櫻井晃洋，古庄知己，和田敬仁，涌井敬子，玉井眞理子，川目　裕，福嶋義光

【小児科医に必要な遺伝カウンセリングの知識と実際】遺伝カウンセリングとその基本的事項
小児科,46:909-915 2005
Author:古庄知己，福嶋義光

Ehlers-Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,138(3):282-287 2005
Author:Kosho, T; Takahashi, J; Ohashi, H; Nishimura, G; Kato, H; Fukushima, Y

Multiple cartilaginous cxostoses(多発性軟骨性外骨腫症)
目で見る骨系統疾患2004.小児内科増刊号,36:254-256 2004
Author:古庄知己，福嶋義光

Aoromelic dysplasias(遠位肢異形成症)
目で見る骨系統疾患2004.小児内科増刊号,36:164-166 2004
Author:古庄知己，西村　玄

自然歴情報の収集と健康管理プログラムの運用
小児科診療,67:221-227 2004
Author:古庄知己

さいたま市立病院周産期母子医療センターの概要及び開設1年間の稼働状況
埼玉県医学会雑誌,38:518-520 2004
Author:森　和広，前山克博，関谷菜穂子，工藤京子，土屋貴義，市川知則，古庄知己，竪田泰樹，佐藤清二，辻　敦敏，落合大吾，長島　隆，谷垣伸治，稲垣　昇，池田俊之，矢久保和美，福井谷達郎，吉田史子，浮山越史，遠藤昌夫

成熟児中枢性無呼吸発作に対するアセタゾラミド少量投与療法
日本小児科学会雑誌,108:421-424 2004
Author:土屋貴義，古庄知己，服部静香，市川知則，森　和広，前山克博，永井敏郎，佐藤清二，辻　敦敏

周産期医療施設における養育困難家庭への支援と介入の試みに関する現状と課題
日本小児科学会雑誌,108:1398-1403 2004
Author:本澤志方，古庄知己，森　和広，福家智子，市川知則，佐藤清ニ，土屋貴義，前山克博

Hypoplasia of portal vein and intrahepatic tumor in a patient with Wolf-Hirschorn syndrome.
AMERICAN JOURNAL OF HUMAN GENETICS,73(5):279-279 2003
Author:Kosho, T; Hisazumi, H; Yakubo, K; Matsushima, K; Tsuchiya, T; Ichikawa, T; Mori, K; Maeyama, K; Fukushima, Y; Tsuji, A; Ohashi, H; Sato, S

偽性副甲状腺機能低下症の一家系
長野赤十字病院医誌,17:37-41 2003
Author:平林佳奈枝，三澤由佳, 足立浩, 中村真一, 南勇樹, 鷲沢一彦, 若林靖伸, 古庄知己, 福嶋義光, 長谷川泰延

Bronchopulmonary foregut malformation diagnosed by three-dimensional CT
Pediatr Radiol,33:887-889 2003
Author:Tsuchiya T, Mori K, Ichikawa T, Kosho T, Ukiyama E, Endo M, Tsuji A, Maeyama K.

【周産期医療と遺伝相談】　遺伝カウンセリングとは
周産期医学,33:1057-1060 2003
Author:古庄知己，福嶋義光

p 47-phox欠損型慢性肉芽腫症を伴うWilliams症候群の1例
日本臨床免疫学会会誌,26(5):299-303 2003
Author:冠木智之，河合利尚，金慶彰，城　宏輔，大橋博文，古庄知己，谷内江昭宏，金兼弘和，宮脇利男，大石　勉

Refined mapping of the gene for otopalatodigital syndrome type I
J Med Genet,39(2):E7 2002
Author:Kosho T, Uemura T, Tanimura M, Ohashi H, Muroya K, Ogata T

Structural analysis of a rare rearranged Y chromosome and its bearing on genotype-phenotype correlation
AMERICAN JOURNAL OF MEDICAL GENETICS,92(4):256-259 2000
Author:Ogata, T; Wakui, K; Kosho, T; Muroya, K; Yamanouchi, Y; Takano, T; Fukushima, Y; Rappold, G; Suzuki, Y

Genetic evidence for a novel gene(s) involved in urogenital development on 10q26
KIDNEY INTERNATIONAL,58(6):2281-2290 2000
Author:Ogata, T; Muroya, K; Sasagawa, I; Kosho, T; Wakui, K; Sakazume, S; Ito, K; Matsuo, N; Ohashi, H; Nagai, T

Short stature homeobox-containing gene duplication on the der(X) chromosome in a female with 45,X/46,X, der(X), gonadal dysgenesis, and tall stature
JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM,85(8):2927-2930 2000
Author:Ogata, T; Kosho, T; Wakui, K; Fukushima, Y; Yoshimoto, M; Miharu, N

ターナー症候群を招く遺伝的機序
ホルモンと臨床,48:45-55 2000
Author:緒方　勤、室谷浩二、古庄知己

FISH解析が過剰マーカー染色体の同定に有用であった非典型的cat eye症候群の１症例．
埼玉小児医療センター医学誌,17:17-23 2000
Author:古庄知己，松嶋一成，浦島　崇，三井規雅，武藤玲子，細野茂春，大野　勉，小川　潔，西田俊朗，大橋博文

A Case of neonatal-onset carbamoyl-phosphate synthase I deficiency treated by continuous hemodiafiltration
E J Pediatr,159:629-630 2000
Author:Kosho T, Nakamura T, Kaneko T, Tamura M

Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome.
J Clin Endocrinol Metab,84:4613-4621 1999(Dec.)
Author:Kosho T, Muroya K, Nagai T, Fujimoto M, Yokoya S, Sakamoto H, Hirano T, Terasaki H, Ohashi H, Nishimura G, Sato S, Matsuo N, Ogata T

Female carriers of Xp22.3 deletion including MRX locus
Am J Med Genet,84:384-385 1999
Author:Muroya K, Kosho T, Ogata T, Matsuo M

カルボプラチンを中心とした化学療法が有効であったいわゆる新生児optic gliomaの１例
小児がん,34:261-264 1997
Author:古庄知己、佐々木道子、辻　敦敏、山田素行、斎藤良一、奥井俊一

Presentations
マイクロアレイ染色体検査にて検出した病的CNV情報を含む最終核型決定に分裂像FISH解析が必須だった染色体構造異常例
日本人類遺伝学会第64回大会 2019(Nov.)
Presenter:涌井敬子、髙野亨子、山口智美、福嶋義光、古庄知己

KIF1A関連多系統神経変性症の臨床像：新規ミスセンス変異を有した32歳男性例の長期経過
日本人類遺伝学会第64回大会 2019(Nov.)
Presenter:中村勝哉、黄瀬恵美子、山口智美、吉長恒明、小平農、関島良樹、古庄知己

信大病院遺伝子医療研究センター「ID外来」におけるマイクロアレイおよび次世代シークエンサーを用いた遺伝学的診断－第2 報－
日本人類遺伝学会第64回大会 2019(Nov.)
Presenter:髙野亨子、涌井敬子、山口智美、湊川真理、花房宏昭、武田良淳、石川真澄、黄瀬恵美子、小島朋美、福山哲弘、夏目岳典、本林光雄、稲葉雄二、平林伸一、笛木昇、要匡、秦健一郎、松原洋一、福嶋義光、古庄知己

新規DSE 変異による筋拘縮型エーラスダンロス症候群の日本人第1 例における臨床的・糖鎖医学的・病理学的特徴
日本人類遺伝学会第64回大会 2019(Nov.)
Presenter:湊川真理、水本秀二、広瀬拓哉、山口智美、長江千愛、瀧正志、涌井敬子、渡邉敬文、山田修平、古庄知己

TRPC6変異による乳児期発症のステロイド抵抗性ネフローゼ症候群の1男児例
日本人類遺伝学会第64回大会 2019(Nov.)
Presenter:花房宏昭、日高義彦、村瀬翼、山口智美、湊川真理、中村勝哉、涌井敬子、髙野亨子、古庄知己

筋強直性ジストロフィーの両親検索についての検討
日本人類遺伝学会第64回大会 2019(Nov.)
Presenter:石川真澄、黄瀬恵美子、小島朋美、髙野亨子、吉長恒明、中村勝哉、関島良樹、古庄知己

Otological features in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in CHST14 (mcEDS-CHST14)
ASHG2019 2019(Oct.)
Presenter:古庄知己

筋強直性ジストロフィーの遺伝カウンセリングについての検討
日本遺伝カウンセリング学会誌 40 2 134 2019(Aug.)
Presenter:石川真澄、黄瀬恵美子、小島朋美、吉長恒明、中村勝哉、関島良樹、古庄知己

北信がんプロにおける「がん診療に詳しい認定遺伝カウンセラー養成コース」の設立
日本遺伝カウンセリング学会誌 40 2 169 2019(Aug.)
Presenter:小島朋美、古庄知己、小泉知展、矢野聖二

信州HBOCワーキング開始後のHBOC関連遺伝カウンセリング来談者の動向
日本遺伝カウンセリング学会誌 40 2 89 2019(Aug.)
Presenter:黄瀬恵美子、石川真澄、山下浩美、小島朋美、伊藤研一、宮本強、髙野亨子、福嶋義光、古庄知己

当院におけるトランスサイレチン型家族性アミロイドポリニューロパチーの遺伝カウンセリングの状況
日本遺伝カウンセリング学会誌 40 2 92 2019(Aug.)
Presenter:中村勝哉、石川真澄、黄瀬恵美子、小島朋美、吉長恒明、関島良樹、古庄知己

Structural alteration of glycosaminoglycan side chains and spatial disorganization of collagen networks in the skin of patients with musculocontracutural Ehlers-Danlos syndrome caused by CHST14D/D4ST1 deficiency
ASHG2018 2018(Oct.)
Presenter:古庄知己

11p13バンドに染色体転座切断点と微細欠失を伴う複雑構造異常を有するがPAX6遺伝子に病的ゲノムバリアントを認めない無虹彩症例
日本人類遺伝学会第63回大会 2018(Oct.)
Presenter:涌井敬子、内山由理、羽田明、朽方豊夢、山口智美、古庄知己、三宅紀子、福嶋義光、松本直通

KMT5B遺伝子変異による神経発達症の3例
日本人類遺伝学会第63回大会 2018(Oct.)
Presenter:髙野亨子、福山哲弘、本林光雄、細谷まち子、山口智美、河村理恵、涌井敬子、福嶋義光、古庄知己

筋拘縮型エーラス・ダンロス症候群に伴う巨大皮下血腫に対する予防的デスモプレシン点鼻療法の経験
日本人類遺伝学会第63回大会 2018(Oct.)
Presenter:藤田直久、石川真澄、黄瀬恵美子、山口智美、吉長恒明、髙野亨子、古庄知己、福嶋義光

信州大学医学部附属病院遺伝子医療研究センターにおける包括的クリニカルシークエンスの現状
日本人類遺伝学会第63回大会 2018(Oct.)
Presenter:藤川朝海、山口智美、重藤翔平、根岸達哉、石川真澄、黄瀬恵美子、小島朋美、藤田直久、髙野亨子、吉長恒明、中村勝哉、涌井敬子、松田和之、福嶋義光、古庄知己

相談内容に「ダウン症候群」を含む症例からみる遺伝子医療部門の役割の推移
日本人類遺伝学会第63回大会 2018(Oct.)
Presenter:石川真澄、黄瀬恵美子、小島朋美、藤田直久、運﨑愛、髙野亨子、福嶋義光、古庄知己

次世代シークエンサーを用いた血管型エーラス・ダンロス症候群のクリニカルシークエンス
日本人類遺伝学会第63回大会 2018(Oct.)
Presenter:山口智美、荒川航太、石川真澄、黄瀬恵美子、小島朋美、運﨑愛、藤田直久、髙野亨子、吉長恒明、涌井敬子、福嶋義光、古庄知己

ダウン症候群の児の出産既往のある妊婦における出生前診断受検をめぐる思い
日本人類遺伝学会第63回大会 2018(Oct.)
Presenter:黄瀬恵美子、石川真澄、小島朋美、髙野亨子、大平哲史、菊地範彦、福嶋義光、古庄知己

ダウン症候群を持つ児の親である妊婦に対する出生前遺伝カウンセリングの経験
日本遺伝カウンセリング学会誌 39 2 93 2018(Jul.)
Presenter:黄瀬恵美子，石川真澄，小島朋美，運﨑愛, 髙野亨子，大平哲史，菊地範彦，福嶋義光，古庄知己

退行様症状が疑われ来談したダウン症者の臨床的・社会的特徴
日本遺伝カウンセリング学会誌 39 2 94 2018(Jul.)
Presenter:石川真澄，黄瀬恵美子，小島朋美，髙野亨子，福嶋義光，古庄知己

NGSDプロジェクト・インテンシブコース（信州大学）：「細胞遺伝学的検査実習集中コース」の取り組み
日本遺伝カウンセリング学会誌 39 2 77 2018(Jun.)
Presenter:涌井敬子，河村理恵，髙野亨子，吉長恒明，古庄知己，福嶋義光

次世代シークエンスの臨床応用
日本遺伝カウンセリング学会誌 39 2 39 2018(Jun.)
Presenter:古庄知己

Musculocontractural EDS-CHST14における脊椎病変の包括的検討，
第40回日本小児遺伝学会学術集会 2018(Jan.)
Presenter:古庄知己，上原将志，中山淳，島倉剛俊，高橋榮明，山本智章，加藤博之，高橋淳，

信州大学医学部附属病院遺伝子医療研究センターにおけるエーラスダンロス症候群診療の実態調査，
日本人類遺伝学会第62回大会 2017(Nov.)
Presenter:石川真澄，黄瀬恵美子，小島朋美，山口智美，吉長恒明，髙野亨子，福嶋義光，古庄知己，

当院における不育症・男性不妊症の遺伝カウンセリング実態調査，
日本人類遺伝学会第62回大会 2017(Nov.)
Presenter:小島朋美，河村理恵，石川真澄，黄瀬恵美子，髙野亨子，涌井敬子，福嶋義光，古庄知己，

信州HBOCワーキングにおける認定遺伝カウンセラーの働き，
日本人類遺伝学会第62回大会 2017(Nov.)
Presenter:黄瀬恵美子，石川真澄，山下浩美，小島朋美，家里明日美，伊藤勅子，伊藤研一，鹿島大靖，時光亜希子，菊地範彦，宮本強，塩沢丹里，上原剛，浅香志穂，髙野亨子，古庄知己，福嶋義光，

信大病院遺伝子医療研究センター知的障害（ID）外来におけるマイクロアレイおよび次世代シークエンサー用いた遺伝学的診断，
日本人類遺伝学会第62回大会 2017(Nov.)
Presenter:高野亨子，古庄知己，涌井敬子，西恵理子，運崎愛，石川真澄，黄瀬恵美子，山口智美，河村理恵，本林光雄，福山哲広，笛木昇，平林伸一，稲葉雄二，要匡，秦健一郎，松原洋一，福嶋義光，

稀少疾患の診断から治療へ〜次世代シークエンスが開く遺伝性結合組織疾患の包括的診療〜，
日本人類遺伝学会第62回大会 2017(Nov.)
Presenter:古庄知己

Musculocontractural EDS-CHST14における脊椎病変の包括的検討，
日本人類遺伝学会第62回大会 2017(Nov.)
Presenter:古庄知己，上原将志，中山淳，島倉剛俊，高橋榮明，山本智章，加藤博之，高橋淳，

Genetic evaluation of patients with intellectual disability (ID) using chromosomal microarray and next-generation sequencing at the “ID clinic”,
American Society of Human Genetics 66th Annual Meeting, 2017(Oct.)
Presenter:Kyoko Takano, Tomoki Kosho, Keiko Wakui, Eriko Nishi, Ai Unzaki, Masumi Ishikawa, Emiko Kise, Tomomi Yamaguchi, Rie Kawamura, Mitsuo Motobayashi, Tetsuhiro Fukuyama, Noboru Fueki, Shinichi Hirabayashi, Yuji Inaba, Kumiko Yanagi, Tadashi Kaname, Kenichiro Hata, Yoshimitsu Fukushima,

Spinal manifestations of patients with musculocontractural Ehlers-Danlos syndrome caused by CHST14/D4ST1 deficiency (mcEDS-CHST14), T. Kosho , M. Uehara , H. Kato , J. Takahashi, American Society of Human Genetics 66th Annual Meeting, 2017/10/17-21, 海外.
American Society of Human Genetics 66th Annual Meeting, 2017(Oct.)
Presenter:T. Kosho , M. Uehara , H. Kato , J. Takahashi,

信州大学医学部附属病院におけるHBOC診療体制の構築拾い上げ問診票導入後の院内連携の変化，
第41回日本遺伝カウンセリング学会学術集会， 2017(Jun.)
Presenter:黄瀬恵美子，石川真澄，山下浩美，家里明日美，伊藤研一，鹿島大靖，菊地範彦，宮本強，塩沢丹里，浅香志穂，上原剛，髙野亨子，古庄知己，福嶋義光，

信州大学医学部附属病院遺伝子医療研究センター知的障害（ID）外来の取り組み，
第59回小児神経学会学術集会， 2017(Jun.)
Presenter:高野亨子，本林光雄，稲葉雄二，福山哲広，平林伸一，西恵理子，笛木昇，山口智美，涌井敬子，要匡，秦健一郎，古庄知己，福嶋義光，

The reasons for not choosing prenatal aneuploidy screening in pregnant women receiving genetic counseling for advanced maternal ages,
European Society of Human Genetics 2017, 2017(Jun.)
Presenter:Emiko Kise, Masumi Ishikawa, Kyoko Takano, Satoshi Ohira, Norihiko Kikuchi, Yoshimitsu Fukushima, Tomoki Kosho,

Pathophysiology of large subcutaneous hematomas in Musculocontractural EDS-CHST14: an iPS cells-based comprehensive investigation,
European Society of Human Genetics 2017, 2017(Jun.)
Presenter:T. Kosho, F. Yue, T. Era, J. Nakayama, T. Yamaguchi, N. Miyake, S. Mizumoto, S. Yamada, R. Kawamura, K. Wakui, T. Yoshizawa, Y. Takahashi, K. Matsumoto, T. Hirose, J. Minaguchi, K. Takehana, M. Uehara, J. Takahashi, M. Ishikawa, C. Masuda, S. Shimazu, Y. Nitahara-Kasahara, A. Watanabe, T. Okada, K. Matsumoto, A. Hashimoto Y. Nomura, Y. Kakuta, A. Hatamochi, Y. Fukushima, K. Sasai,

18部分トリソミーの一例
日本周産期・新生児医学会雑誌 53 2 602 2017(Jun.)
Presenter:大岡尚実, 大家ゆず子, 中西恵美, 寺尾美代子, 高木紀美代, 古庄知己, 吉田志朗

信州大学医学部附属病院遺伝子医療研究センター知的障害(ID)外来の取り組み
脳と発達 49 Suppl. S391 2017(May)
Presenter:高野亨子, 本林光雄, 稲葉雄二, 福山哲広, 平林伸一, 西恵理子, 笛木昇, 山口智美, 涌井敬子, 要匡, 秦健一郎, 古庄知己, 福嶋義光

Marfan症候群および類縁疾患における遺伝学的検査受検に際した保護者から未成年者への説明のプロセス
日本遺伝カウンセリング学会誌 38 2 66 2017(May)
Presenter:井ノ口卓彦, 古庄知己, 高野亨子, 涌井敬子, 河村理恵, 石川真澄, 黄瀬恵美子, 福嶋義光

ダウン症候群を持つ子どもの親が育児を通じて感じてきた思い　長野県内親の会へのアンケート調査から
日本遺伝カウンセリング学会誌 38 2 67 2017(May)
Presenter:吉沢奈緒子, 河村理恵, 古庄知己, 福嶋義光

信州大学医学部附属病院における血管型エーラスダンロス症候群の診療実態調査
日本遺伝カウンセリング学会誌 38 2 97 2017(May)
Presenter:塚谷延枝, 古庄知己, 石川真澄, 黄瀬恵美子, 高野亨子, 中村勝哉, 山下浩美, 玉井真理子, 涌井敬子, 河村理恵, 福嶋義光

信州大学医学部附属病院におけるHBOC診療体制の構築　拾い上げ問診票導入後の院内連携の変化
日本遺伝カウンセリング学会誌 38 2 106 2017(May)
Presenter:黄瀬恵美子, 石川真澄, 山下浩美, 家里明日美, 伊藤研一, 鹿島大靖, 菊地範彦, 宮本強, 塩沢丹里, 浅香志穂, 上原剛, 高野亨子, 古庄知己, 福嶋義光

OTC欠損症の児を持つヘテロ接合体女性への遺伝カウンセリング
日本遺伝カウンセリング学会誌 38 2 123 2017(May)
Presenter:荒川経子, 関聡子, 竹内浩一, 西恵理子, 古庄知己

不育症、不妊症をめぐる遺伝カウンセリングの有用性　信州大学附属病院におけるインタビュー調査から
日本遺伝カウンセリング学会誌 38 2 139 2017(May)
Presenter:小島朋美, 古庄知己, 高野亨子, 涌井敬子, 河村理恵, 石川真澄, 黄瀬恵美子, 福嶋義光

遺伝医療部門に求められていること　D4ST1欠損型エーラス・ダンロス症候群の自然歴調査から
日本遺伝カウンセリング学会誌 38 2 151 2017(May)
Presenter:石川真澄, 古庄知己, 黄瀬恵美子, 福嶋義光

知的障害(Intellectual Disability:ID)外来　2年間の成果
日本小児科学会雑誌 121 3 640 2017(Mar.)
Presenter:高野亨子, 古庄知己, 福嶋義光

遺伝性結合組織疾患の包括的遺伝子解析をめざして　次世代シーケンスを活用した自施設でのパネル解析とIRUDへの参加
日本小児科学会雑誌 121 3 640 2017(Mar.)
Presenter:古庄知己, 高野亨子, 福嶋義光

ダウン症候群のある子どもの親が育児を通じて感じてきた思いに関する調査
長野県母子衛生学会誌 19 35 2017(Mar.)
Presenter:吉沢奈緒子, 河村理恵, 古庄知己, 福嶋義光

D4ST1欠損に基づくエーラスダンロス症候群の病態解明と治療法の開発
日本小児科学会雑誌 121 2 230 2017(Feb.)
Presenter:古庄知己, 吉沢隆浩, 岳鳳鳴, 水本秀二, 野村義宏, 中山淳, 岡田尚巳

D4ST1欠損に基づくEhlers-Danlos症候群における巨大皮下血腫の病態解明
日本小児科学会雑誌 121 2 262 2017(Feb.)
Presenter:古庄知己, 福嶋義光

デルマタン4-O-硫酸基転移酵素1（D4ST1）欠損に基づくEhlers-Danlos症候群（DDEDS）における巨大皮下血腫の病態解明：iPS細胞を用いた検討．
日本小児遺伝学会学術集会プログラム 53 2016(Dec.)
Presenter:古庄知己、岳鳳鳴、江良択実、籏持淳、河村理恵、涌井敬子、福嶋義光、佐々木克典：

高度の頸部ジストニアを主徴とし、新規DCAF17遺伝子変異を認めたWoodhouse-Sakati syndromeの21歳女性例
臨床神経学 56 12 884 2016(Dec.)
Presenter:松野淳洋, 宮崎大吾, 小平農, 中村勝哉, 山崎輝行, 古庄知己, 関島良樹, 池田修一

Becker muscular dystrophyのDMD遺伝子変異Hot Spotにおける遺伝型一表現型の検討
臨床神経学 56 Suppl. S420 2016(Dec.)
Presenter:宮崎大吾, 中村昭則, 柴直子, 稲葉雄二, 笛木昇, 古庄知己, 池田修一

iPS cells-based pathophysiological investigation for large subcutaneous hematomas in Ehlers-Danlos syndrome caused by CHST14/D4ST1 deficiency.
American Society of Human Genetics 65th Annual Meeting 2016(Oct.)
Presenter:Tomoki Kosho, Fengming Yue, Takumi Era, Jun Nakayama, Tomomi Yamaguchi, Noriko Miyake, Shuji Mizumoto, Shuhei Yamada, Rie Kawamura, Keiko Wakui, Takahiro Yoshizawa, Yuki Takahashi, Kiyoshi Matsumoto, Takuya Hirose, Jun Minaguchi, Kazushige Takehana, Masashi Uehara, Jun Takahashi, Masumi Ishikawa, Chiaki Masuda, Sonoko Shimazu, Yuko Nitahara-Kasahara, Atsushi Watanabe, Takashi Okada, Ken-ichi Matsumoto, Yoshihiro Nomura, Yoshimitsu Kakuta, Atsushi Hatamochi, Yoshimitsu Fukushima,Katsunori Sasaki

CDKN1C重複は半身低形成のないシルバーラッセル症候群サブタイプを招く
日本小児科学会雑誌 120 10 1561 2016(Oct.)
Presenter:中島信一, 加藤芙弥子, 古庄知己, 長崎啓祐, 菊池透, 鏡雅代, 深見真紀, 緒方勤

高度な食道狭窄をきたしたKindler症候群の1例
日本皮膚科学会雑誌 126 11 2130 2016(Oct.)
Presenter:大橋敦子, 木庭幸子, 奥山隆平, 菅智明, 古庄知己, 久保仁美

先天性外胚葉形成不全症の2例
日本皮膚科学会雑誌 126 11 2132 2016(Oct.)
Presenter:三宅知美, 木庭幸子, 奥山隆平, 古庄知己, 中野創

NGSを活用した臨床シーケンスの現状と課題次世代シーケンスの臨床応用　遺伝性結合組織疾患のパネル解析を中心に
臨床病理 64 補冊 SY16-1 2016(Sep.)
Presenter:古庄知己

デルマタン4-O-硫酸基転移酵素-1欠損に基づくエーラスダンロス症候群モデルマウスの作製および病態解析
日本生化学会大会プログラム・講演要旨集 89 [2T07-05(2P-327)] 2016(Sep.)
Presenter:笠原優子, 積田奈々, 増田千明, 島田苑子, 水本秀二, 井上由起子, 井上高良, 吉沢隆浩, 中山淳, 高橋有希, 武田伸一, 古庄知己, 岡田尚巳

子宮頸がんワクチン接種後副反応疑いで受診し、染色体異常が発見されたXXXX症候群の一例
NEUROINFECTION 21 2 237 2016(Sep.)
Presenter:池田修一, 日根野晃代, 吉長恒明, 古庄知己, 関島良樹, 加藤博之

デルマタン4-O-硫酸基転移酵素1(D4ST1)欠損に基づく新型エーラスダンロス症候群のマウスモデルにおける皮膚形態解析
日本獣医学会学術集会講演要旨集 159 305 2016(Aug.)
Presenter:広瀬拓哉, 吉沢隆浩, 笠原優子, 岡田尚巳, 増田千明, 島津苑子, 高橋有希, 古庄知己, 美名口順, 竹花一成

遺伝性結合組織疾患の包括的遺伝子解析をめざして：次世代シーケンスを活用した自施設でのパネル解析とIRUDへの参加．
第8回日本小児科学会長野地方会 2016(Jun.)
Presenter:古庄知己、高野亨子、福嶋義光：

デルマタン4-O-硫酸基転移酵素1(D4ST1)欠損に基づく新型エーラスダンロス症候群のマウスモデル(Chst14-/-マウス)における皮膚形態解析
日本結合組織学会学術大会プログラム・抄録集 48 74 2016(Jun.)
Presenter:広瀬拓哉, 吉沢隆浩, 笠原優子, 岡田尚巳, 古庄知己, 美名口順, 竹花一成

ナノ液体クロマトグラフィータンデム質量分析法を用いたエーラスダンロス症の診断法の開発
日本結合組織学会学術大会プログラム・抄録集 48 76 2016(Jun.)
Presenter:山田和夫, 渡辺淳, 古庄知己, 竹下治男, 松本健一

多発関節弛緩型エーラスダンロス症候群(EDS)の2例
日本結合組織学会学術大会プログラム・抄録集 48 118 2016(Jun.)
Presenter:東海林怜, 嶋岡弥生, 小池真美, 濱崎洋一郎, 古庄知己, 籏持淳

デルマタン4-O-硫酸基転移酵素-1(D4ST1)欠損に基づく新型エーラスダンロス症候群(DD-EDS)の2例
日本結合組織学会学術大会プログラム・抄録集 48 120 2016(Jun.)
Presenter:嶋岡弥生, 東海林怜, 小池真美, 濱崎洋一郎, 古庄知己, 持田耕介, 天野正宏, 籏持淳

Natural history of Ehlers-Danlos Syndrome (EDS) caused by CHST14/D4ST1 deficiency: from an international collaborative clinical study by the International Consortium for EDS.
European Society of Human Genetics 2016 2016(May)
Presenter:Tomoki Kosho, Delfien Syx, Tim Van Damme Hiroko Morisaki, Hiroshi Kawame, Tohru Sonoda, Yvonne Hilhorst-Hofstee, Alessandra Maugeri, Jean Pierre Fryns, Nicol C. Voermans, Roberto Mendoza-Londono, Klaas J. Wierenga, Parul Jayakar, Ken Ishikawa, Tomoko Kobayashi, Yoko Aoki, Sohei Watanabe, Toshihiro Ohura, Michihiro Kono, Kosuke Mochida, Kiyoshi Kikkawa, Chiho Tokoroya, Takayuki Morisaki, Cecilia Giunta, Andreas R. Janecke, Noriko Miyake, Fransiska Malfait:

Diagnosis and management of EDS musculocontractural type(EDS caused by CHST14/D4ST1 or DSE deficiency)
EDS国際シンポジウム 2016(May)
Presenter:古庄知己,積田奈々,増田千秋,吉沢隆浩,岳鳳鳴,笠原優子,水本秀二,広瀬拓哉,上原剛,三宅紀子,松本健一,青木義継,山田修平,竹花一成,中山淳, 野村義宏,福嶋義光,渡辺淳,旗持淳,佐々木克典,岡田尚巳

重度発達遅滞を呈したジストロフィン遺伝子の一部を含む3.36MbのXp21.1微細欠失の1男児例
脳と発達 48 Suppl. S329 2016(May)
Presenter:柴直子, 西岡誠, 山内翔子, 川崎洋一郎, 本林光雄, 高野亨子, 古庄知己, 涌井敬子, 福嶋義光, 中村昭則, 稲葉雄二

SHANK3遺伝子変異を認めた1女児例
脳と発達 48 Suppl. S410 2016(May)
Presenter:高野亨子, 古庄知己, 涌井敬子, 福嶋義光

Multisystem involvement and progressive course in Woodhouse-Sakati syndrome:from detailed,comprehensive,and longitudinal observation of the first East Asian patient
ICHG2016　The 13th International Congress of Human Geneticsプログラム 2016(Apr.)
Presenter:神谷素子，山口智美，高野亨子，山崎雅則，安尾将法，宮川麻衣子，宇佐美真一，皆川茜，高橋淳，金井将史，平林一貴，中村勝哉，石川真澄，黄瀬恵美子，涌井敬子，福嶋義光，古庄知己

Factors influencing the decision not to choose prenatal aneuploidy screening in pregnant women receiving genetic counseling for advanced maternal ages
ICHG2016　The 13th International Congress of Human Geneticsプログラム 2016(Apr.)
Presenter:黄瀬恵美子，石川真澄，高野亨子，大平哲史，浅香亮一，三宅秀彦，金井誠，福嶋義光，古庄知己

Clinical courses and experiences of seven patients with Ehlers-Danlos syndrome caused by CHST14/D4ST1 deficiency
ICHG2016　The 13th International Congress of Human Geneticsプログラム 2016(Apr.)
Presenter:石川真澄，黄瀬恵美子，福嶋義光，古庄知己

Next generation sequencing-based panel analysis for hereditary connective tissue disorders through the ion PGM™ system
ICHG2016　The 13th International Congress of Human Geneticsプログラム 2016(Apr.)
Presenter:山口智美，髙橋有希，石川真澄，黄瀬恵美子，神谷素子，高野亨子，中村勝哉，河村理恵，涌井敬子，福嶋義光，古庄知己

Next Generation Sequencing as a Clinicl Diagnostic Tool for Hereditary Spinocerebellar Degeneration
ICHG2016　The 13th International Congress of Human Geneticsプログラム 2016(Apr.)
Presenter:中村勝哉，吉田邦広，古庄知己，高野亨子，涌井敬子，佐藤俊一，関島良樹，牧下英夫，大原慎司，石川真澄，池田修一，福嶋義光

Genetic evaluation ob patients with intellectual disability (ID) using chromosomal microarray and targeted next-generation sequencing at the "ID clinic"
ICHG2016　The 13th International Congress of Human Geneticsプログラム 2016(Apr.)
Presenter:高野亨子，古庄知己，涌井敬子，神谷素子，本林光雄，柴直子，福山哲広，平林伸一，西恵理子，石川真澄，黄瀬恵美子，山口智美，河村理恵，稲葉雄二，福嶋義光

Retrospective evaluation of rare benign CNVs detected by chromosomal microarray
ICHG2016　The 13th International Congress of Human Geneticsプログラム 2016(Apr.)
Presenter:涌井敬子，古庄知己，高野亨子，清水健司，鳴海洋子，西恵理子，水野誠二，山口智美，河村理恵，大橋博文，福嶋義光

From dysmorphology to human biology: a lesson from the discovery of Ehlers-Danlos syndrome caused by CHST14/D4ST1 deficiency” Concurrent Invited Session, “Clinical Genetics and Dysmorphology
ICHG2016　The 13th International Congress of Human Geneticsプログラム 2016(Apr.)
Presenter:古庄知己

D4ST1欠損に基づくエーラスダンロス症候群(DDEDS)の国際共同自然歴調査
日本小児科学会雑誌 120 2 279 2016(Feb.)
Presenter:古庄知己, 森崎裕子, 三宅紀子, 福嶋義光

長野県立こども病院におけるマイクロアレイを用いたゲノムコピー数異常解析例の検討
日本小児科学会雑誌 120 2 399 2016(Feb.)
Presenter:西恵理子, 高野亨子, 古庄知己, 中村友彦

上気道性呼吸不全を呈したcoffin-siris症候群の早産極低出生体重児の一例
日本小児科学会雑誌 120 2 494 2016(Feb.)
Presenter:関聡子, 亀井良哉, 伊藤有香子, 山口由美, 小田新, 西恵理子, 廣間武彦, 古庄知己, 三宅紀子, 中村友彦

信州大学医学部附属病院遺伝子診療部知的障害(ID)外来の取り組み(第2報)
日本小児科学会雑誌 120 2 517 2016(Feb.)
Presenter:高野亨子, 神谷素子, 稲葉雄二, 福山哲広, 平林伸一, 笛木昇, 西恵理子, 古庄知己, 福嶋義光

家族性洞不全症候群が疑われた若年女性の1症例
山梨医学 43 169-170 2016(Feb.)
Presenter:小池直樹, 大畑和義, 杉本武史, 車谷容子, 佐宗真由美, 田中裕也, 山崎恭平, 古庄知己

Research Grants: Cooperative research with industry
2019 - 2020 , ゲノム医療の実装に資する臨床ゲノム情報統合データベースの整備と我が国の継続的なゲノム医療実施体制の構築
2018 - 2020 , 未診断疾患イニシアチブ（Initiative on Rare and Undiagnosed Diseases(IRUD)）:希少未診断疾患に対する診断プログラムの開発に関する研究
2017 - 2019 , ゲノム医療従事者の育成プログラム開発
2015 - 2017 , デルマタン4-O-硫酸基転移酵素-1欠損に基づくエーラスダンロス症候群の病態解明と治療法の開発

Grants‐in‐aid for Scientific Research(Research Representative)
2019 - 2021 , 筋拘縮型エーラス・ダンロス症候群の病態解明に基づくデルマタン硫酸の統合的理解 , 基盤研究（B)
2014 - 2014 , デルマタン4-O-硫酸基転移酵素-1欠損に基づくエーラス・ダンロス症候群（DDEDS）の病態解明と治療法の開発 , 公益財団法人小児医学研究振興財団
2012 - 2013 , デルマタン4-O-硫酸基転移酵素-1欠損に基づくエーラスダンロス症候群の病態解明と治療法の開発 , 厚生労働科学研究費・難治性疾患克服研究事業
2010 - 2011 , エーラスダンロス症候群（主に血管型および新型）の実態把握および診療指針の確立 , 厚生労働科学研究費・難治性疾患克服研究事業
2009 - 2009 , エーラスダンロス症候群（主に血管型および新型）の実態把握および診療指針の確立 , 厚生労働科学研究費・難治性疾患克服研究事業

Grants‐in‐aid for Scientific Research(Researcher)
2020 - 2022 , 先天異常症候群のライフステージ全体の自然歴と合併症の把握：Reverse phenotypingを包含したアプローチ , 厚生労働科学研究費補助金
2018 - 2020 , 難病領域における検体検査の精度管理体制の整備に資する研究 , 厚生労働科学研究費補助金
2017 - 2019 , 先天異常症候群領域の指定難病等の QOL の向上を目指す包括的研究 , 厚生労働科学研究費補助金
2014 - 2016 , 国際標準に立脚した奇形症候群領域の診療指針に関する学際的・網羅的検討 , 厚生労働科学研究費補助金
2014 - 2014 , 診断基準・診療指針の改良と普及をめざした大動脈疾患など遺伝性血管難病に関する調査研究 , 厚生労働科学研究費補助金
2013 - 2013 , カムラチー・エンゲルマン病の治療法の確立：新規遺伝子探索、モデル構築、分子標的治療薬の探索 , 厚生労働科学研究費補助金

Research Activities: Journal Editorial Board
日本遺伝カウンセリング学会

Shinshu University Researcher Directory

KOSHO Tomoki

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KOSHO　Tomoki