Kosho, Tomoki

The 2017 international classification of the Ehlers–Danlos syndromes

Malfait, F., Francomano, C., Byers, P., Belmont, J., Berglund, B., Black, J., Bloom, L., Bowen, J. M., Brady, A. F., Burrows, N. P., et al. (2017) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 1,936

The Ehlers–Danlos syndromes, rare types

Brady, A. F., Demirdas, S., Fournel‐Gigleux, S., Ghali, N., Giunta, C., Kapferer‐Seebacher, I., Kosho, T., Mendoza‐Londono, R., Pope, M. F., Rohrbach, M., et al. (2017) · American Journal of Medical Genetics Part C Seminars in Medical Genetics

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 258

Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome

Miyake, N., Kosho, T., Mizumoto, S., Furuichi, T., Hatamochi, A., Nagashima, Y., Arai, E., Takahashi, K., Kawamura, R., Wakui, K., et al. (2010) · Human Mutation

Connective tissue disorders researchProteoglycans and glycosaminoglycans research

Cited by 156

Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature

Kosho, T., Okamoto, N., Ohashi, H., Tsurusaki, Y., Imai, Y., Hibi‐Ko, Y., Kawame, H., Homma, T., Tanabe, S., Kato, M., et al. (2013) · American Journal of Medical Genetics Part A

Chromatin Remodeling and CancerGenetics and Neurodevelopmental Disorders

Cited by 101

A new Ehlers–Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility‐related manifestations

Kosho, T., Miyake, N., Hatamochi, A., Takahashi, J., Kato, H., Miyahara, T., Igawa, Y., Yasui, H., Ishida, T., Ono, K., et al. (2010) · American Journal of Medical Genetics Part A

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 88

Delineation of dermatan 4‐O‐sulfotransferase 1 deficient Ehlers–Danlos syndrome: Observation of two additional patients and comprehensive review of 20 reported patients

Shimizu, K., Okamoto, N., Miyake, N., Taira, K., Sato, Y., Matsuda, K., Akimaru, N., Ohashi, H., Wakui, K., Fukushima, Y., et al. (2011) · American Journal of Medical Genetics Part A

Connective tissue disorders researchProteoglycans and glycosaminoglycans research

Cited by 68

CHST14/D4ST1 deficiency: New form of Ehlers–Danlos syndrome

Kosho, T. (2016) · Pediatrics International

Connective tissue disorders researchProteoglycans and glycosaminoglycans research

Cited by 53

Ehlers–Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls

Kosho, T., Takahashi, J., Ohashi, H., Nishimura, G., Kato, H., & Fukushima, Y. (2005) · American Journal of Medical Genetics Part A

Connective tissue disorders researchDermatological and Skeletal Disorders

Cited by 51

NOTCH2 Hajdu-Cheney Mutations Escape SCFFBW7-Dependent Proteolysis to Promote Osteoporosis

Fukushima, H., Shimizu, K., Watahiki, A., Hoshikawa, S., Kosho, T., Oba, D., Sakano, S., Arakaki, M., Yamada, A., Nagashima, K., et al. (2017) · Molecular Cell

Bone Metabolism and DiseasesBone Tumor Diagnosis and Treatments

Cited by 46

A MinION-based Long-Read Sequencing Application With One-Step PCR for the Genetic Diagnosis of 21-Hydroxylase Deficiency

Adachi, E., Nakagawa, R., Tsuji-Hosokawa, A., Gau, M., Kirino, S., Yogi, A., Nakatani, H., Takasawa, K., Yamaguchi, T., Kosho, T., et al. (2024) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersGenomics and Rare Diseases

Cited by 16

Discovery and Delineation of Dermatan 4-O-Sulfotransferase-1 (D4ST1)-Deficient Ehlers-Danlos Syndrome

Kosho, T. (2013) · Current Genetics in Dermatology

Connective tissue disorders researchProteoglycans and glycosaminoglycans research

Cited by 12

Mobile Cecum in a Young Woman with Ehlers-Danlos Syndrome Hypermobility type: A Case Report and Review of the Literature

Fukuda, Y., Higuchi, Y., Shinozaki, K., Tanigawa, Y., Abe, T., Hanaoka, N., Matsubayashi, S., Yamaguchi, T., Kosho, T., & Nakamichi, K. (2017) · Internal Medicine

Intestinal Malrotation and Obstruction DisordersGastrointestinal disorders and treatments

Cited by 8

Carbohydrate (N-Acetylgalactosamine 4-O) Sulfotransferase 14 (CHST14)

Kosho, T., Mizumoto, S., & Sugahara, K. (2014) · Handbook of Glycosyltransferases and Related Genes

Proteoglycans and glycosaminoglycans researchLysosomal Storage Disorders Research

Cited by 6