Nishimura, Gen

Nosology and classification of genetic skeletal disorders: 2019 revision

Mortier, G. R., Cohn, D. H., Cormier‐Daire, V., Hall, C., Krakow, D., Mundlos, S., Nishimura, G., Robertson, S., Sangiorgi, L., Savarirayan, R., et al. (2019) · American Journal of Medical Genetics Part A

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 600

Nosology and classification of genetic skeletal disorders: 2015 revision

Bonafe, L., Cormier‐Daire, V., Hall, C., Lachman, R., Mortier, G., Mundlos, S., Nishimura, G., Sangiorgi, L., Savarirayan, R., Sillence, D., et al. (2015) · American Journal of Medical Genetics Part A

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 569

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

van Karnebeek, C. D. M., Bonafé, L., Wen, X.-Y., Tarailo-Graovac, M., Balzano, S., Royer-Bertrand, B., Ashikov, A., Garavelli, L., Mammi, I., Turolla, L., et al. (2016) · Nature Genetics

Glycosylation and Glycoproteins ResearchLysosomal Storage Disorders Research

Cited by 164

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

Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients

Fukami, M., Horikawa, R., Nagai, T., Tanaka, T., Naiki, Y., Sato, N., Okuyama, T., Nakai, H., Soneda, S., Tachibana, K., et al. (2005) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 155

Cortical-Bone Fragility — Insights from sFRP4 Deficiency in Pyle’s Disease

Simsek Kiper, P. O., Saito, H., Gori, F., Unger, S., Hesse, E., Yamana, K., Kiviranta, R., Solban, N., Liu, J., Brommage, R., et al. (2016) · New England Journal of Medicine

Bone health and osteoporosis researchBone Metabolism and Diseases

Cited by 151

Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders

Nakajima, M., Mizumoto, S., Miyake, N., Kogawa, R., Iida, A., Ito, H., Kitoh, H., Hirayama, A., Mitsubuchi, H., Miyazaki, O., et al. (2013) · The American Journal of Human Genetics

Proteoglycans and glycosaminoglycans researchConnective tissue disorders research

Cited by 137

Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation

Guo, L., Bertola, D. R., Takanohashi, A., Saito, A., Segawa, Y., Yokota, T., Ishibashi, S., Nishida, Y., Yamamoto, G. L., Franco, J. F. D. S., et al. (2019) · The American Journal of Human Genetics

Bone Metabolism and DiseasesConnective tissue disorders research

Cited by 133

Cytochrome P450 Oxidoreductase Deficiency: Identification and Characterization of Biallelic Mutations and Genotype-Phenotype Correlations in 35 Japanese Patients

Fukami, M., Nishimura, G., Homma, K., Nagai, T., Hanaki, K., Uematsu, A., Ishii, T., Numakura, C., Sawada, H., Nakacho, M., et al. (2009) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 117

Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

Grigelioniene, G., Suzuki, H. I., Taylan, F., Mirzamohammadi, F., Borochowitz, Z. U., Ayturk, U. M., Tzur, S., Horemuzova, E., Lindstrand, A., Weis, M. A., et al. (2019) · Nature Medicine

MicroRNA in disease regulationConnective tissue disorders research

Cited by 103

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

Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysis

Fukami, M., Hasegawa, T., Horikawa, R., Ohashi, T., Nishimura, G., Homma, K., & Ogata, T. (2006) · Pediatric Research

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 79

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

A Male Patient Presenting with Major Clinical Symptoms of Glucocorticoid Deficiency and Skeletal Dysplasia, showing a Steroid Pattern Compatible with 17.ALPHA.-Hydroxylase/ 17, 20-Lyase Deficiency, but without Obvious CYP 17 Gene Mutations.

ADACHI, M., TACHIBANA, K., ASAKURA, Y., SUWA, S., & NISHIMURA, G. (1999) · Endocrine Journal

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 33

Mutation analysis of FGFR1‐3 in 11 Japanese patients with syndromic craniosynostoses

Ohishi, A., Nishimura, G., Kato, F., Ono, H., Maruwaka, K., Ago, M., Suzumura, H., Hirose, E., Uchida, Y., Fukami, M., et al. (2017) · American Journal of Medical Genetics Part A

Craniofacial Disorders and TreatmentsGenomics and Rare Diseases

Cited by 11