المؤلفون: Ewelina Bukowska-Olech, Wiktoria Trzebiatowska, Wiktor Czech, Olga Drzymała, Piotr Frąk, Franciszek Klarowski, Piotr Kłusek, Anna Szwajkowska, Aleksander Jamsheer

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: hereditary multiple exostoses (HME), multiple osteochondromas (MO), diaphyseal aclasis, EXT1 gene, EXT2 gene, HME molecular backround, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.759129/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/2cbf938c41ff4a40a7a7e8c2c2983e8b

المؤلفون: Ye Wang, Liangying Zhong, Yan Xu, Lei Ding, Yuanjun Ji, Sacha Schutz, Claude Férec, David N. Cooper, Caixia Xu, Jian-Min Chen, Yanmin Luo

المصدر: Frontiers in Genetics, Vol 11 (2020)

مصطلحات موضوعية: EXT1 gene, EXT2 gene, multiple osteochondromas, pathogenic variant, preimplantation genetic testing, prenatal diagnosis, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2020.607838/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/9ea8296e9c374435a9996b41d9f9c030

المؤلفون: V. P. Fedotov, S. A. Kurbatov, S. S. Nikitin, T. B. Milovidova, N. M. Galeeva, A. V. Polyakov

المصدر: Нервно-мышечные болезни, Vol 5, Iss 1, Pp 48-54 (2015)

مصطلحات موضوعية: hereditary motor sensory neuropathy (hmsn), hmsn type 1b, myelinopathy, multiple osteochondromas, multiple exostoses, chondrodysplasia, electromyography, mutations, mpz gene, ext2 gene, autosomal dominant inheritance, monozygotic twins, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://nmb.abvpress.ru/jour/article/view/110; https://doaj.org/toc/2222-8721; https://doaj.org/toc/2413-0443

URL الوصول: https://doaj.org/article/519d7201c83b496a813a38f0e851b57d

المؤلفون: Ye Wang, Liangying Zhong, Yan Xu, Lei Ding, Yuanjun Ji, Sacha Schutz, Claude Férec, David N. Cooper, Caixia Xu, Jian-Min Chen, Yanmin Luo

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, EXT1 gene, EXT2 gene, multiple osteochondromas, pathogenic variant, preimplantation genetic testing, prenatal diagnosis

Relation: https://figshare.com/articles/dataset/Data_Sheet_1_EXT1_and_EXT2_Variants_in_22_Chinese_Families_With_Multiple_Osteochondromas_Seven_New_Variants_and_Potentiation_of_Preimplantation_Genetic_Testing_and_Prenatal_Diagnosis_docx/13474140

الاتاحة: https://doi.org/10.3389/fgene.2020.607838.s001
https://figshare.com/articles/dataset/Data_Sheet_1_EXT1_and_EXT2_Variants_in_22_Chinese_Families_With_Multiple_Osteochondromas_Seven_New_Variants_and_Potentiation_of_Preimplantation_Genetic_Testing_and_Prenatal_Diagnosis_docx/13474140

المؤلفون: Array В. Поляков, Array С. Никитин, Array А. Курбатов, Array М. Галеева, Array Б. Миловидова, Array Павлович Федотов

المصدر: Nervno-Myšečnye Bolezni, Vol 5, Iss 1, Pp 48-54 (2015)

مصطلحات موضوعية: multiple exostoses, electromyography, Multiple osteochondroma, Bone disease, multiple osteochondromas, hereditary motor sensory neuropathy (hmsn), mpz gene, Biology, hmsn type 1b, chondrodysplasia, monozygotic twins, medicine, myelinopathy, RC346-429, Gene, Myelinopathy, Genetics, Multiple exostosis, ext2 gene, Genetic heterogeneity, Genetic variants, medicine.disease, mutations, autosomal dominant inheritance, medicine.anatomical_structure, Neurology, Peripheral nervous system, Neurology (clinical), Neurology. Diseases of the nervous system

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02e5edc7e161d2d66d9ca9a6211a60de
https://nmb.abvpress.ru/jour/article/view/110

المؤلفون: 赵文秋, 宋书娟, 魏庆, 乔杰

المساهمون: 北京大学第三医院妇产科,100083, 北京大学第三医院医学部医学遗传学系,100083

المصدر: PubMed ; 万方 ; http://d.g.wanfangdata.com.cn/Periodical_zhyxycx200903001.aspx

مصطلحات موضوعية: 遗传性多发性骨软骨瘤 EXT2基因 无义突变 hereditary multiple exostoses EXT2 gene nonsense mutation

Relation: 中华医学遗传学杂志.2009,26,(3),241-244.; 670317; http://hdl.handle.net/20.500.11897/197215

الاتاحة: https://hdl.handle.net/20.500.11897/197215
https://doi.org/10.3760/cma.j.issn.1003-9406.2009.03.001

المؤلفون: Bovée, JVMG

المساهمون: Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands

مصطلحات موضوعية: Chromosome 11, EXT2 gene, 11p11-p12 (alias), Genes Section, Exostoses, Multiple Hereditary, Neoplasms, Bone Tissue, Connective and Soft Tissue, Neoplastic Syndromes, Hereditary, Osteochondrodysplasias, Osteochondroma, Osteochondromatosis

Relation: Atlas of Genetics and Cytogenetics in Oncology and Haematology; http://AtlasGeneticsOncology.org//Genes/EXT2ID213.html; Atlas of Genetics and Cytogenetics in Oncology and Haematology; 2000, Vol. 4, N° 1; p. 5-6; http://hdl.handle.net/2042/37576; https://doi.org/10.4267/2042/37576

الاتاحة: http://hdl.handle.net/2042/37576
https://doi.org/10.4267/2042/37576

المؤلفون: Bovée, JVMG

المساهمون: Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands

مصطلحات موضوعية: Chromosome 11, EXT2 gene, Genes Section, Exostoses, Multiple Hereditary, Neoplasms, Bone Tissue, Connective and Soft Tissue, Neoplastic Syndromes, Hereditary, Osteochondrodysplasias, Osteochondroma, Osteochondromatosis

Relation: Atlas of Genetics and Cytogenetics in Oncology and Haematology; http://AtlasGeneticsOncology.org//Genes/EXT2ID213.html; Atlas of Genetics and Cytogenetics in Oncology and Haematology; 2002, Vol. 6, N° 3; p. 185-186; http://hdl.handle.net/2042/37861; https://doi.org/10.4267/2042/37861

الاتاحة: http://hdl.handle.net/2042/37861
https://doi.org/10.4267/2042/37861