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