المؤلفون: Artem Borovikov, Andrey Marakhonov, Aysylu Murtazina, Kseniya Davydenko, Alexandra Filatova, Nailya Galeeva, Varvara Kadnikova, Natalya Ogorodova, Daria Gorodilova, Ilya Kanivets, Denis Pyankov, Konstantin Zherdev, Aleksandr Petel’guzov, Pavel Zubkov, Alexander Polyakov, Olga Shchagina, Mikhail Skoblov

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: multiple osteochondromas, exostosis, EXT1, EXT2, mosaic deletion, genome sequencing, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1435493/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/9b18c72810344e36991efc0b72f3c6ef

المؤلفون: Corneliu Toader, Antonio-Daniel Corlatescu, Nicolaie Dobrin, Razvan-Adrian Covache-Busuioc, Horia Petre Costin, Alexandru Vlad Ciurea

المصدر: Diseases, Vol 12, Iss 7, p 165 (2024)

مصطلحات موضوعية: osteochondroma, hereditary multiple exostosis, spinal surgery, EXT1, EXT2, Medicine

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2079-9721/12/7/165; https://doaj.org/toc/2079-9721

URL الوصول: https://doaj.org/article/7be350909fd44e4898650439d4a63a7f

المؤلفون: Magalhães, Sara Sofia Bessa

مصطلحات موضوعية: Doenças Órfãs, Osteocondromas, EXT1 e EXT2, Sulfato de Heparano, Palovaroteno, Orphan Diseases, Osteochondromas, EXT1 and EXT2, Heparan Sulfate, Palovarotene

الاتاحة: https://hdl.handle.net/10316/93083

المؤلفون: Jennifer Hummel, Gustavo Vicente, Isamery A Machado de Sarmiento, Maria J Pereira de Campo, Guilherme L Savassi Rocha, Fernando Carmona Dinau, Fabiane Zanchin, Noeme Sousa Rocha

المصدر: RevistaFT, 27(123), 18, (2023-06-30)

مصطلحات موضوعية: canine, biopsy, EXT1, and EXT2 genes, multiple exostosis, tomography

Relation: https://doi.org/10.5281/zenodo.8099673; https://doi.org/10.5281/zenodo.8132618; oai:zenodo.org:8132618

الاتاحة: https://doi.org/10.5281/zenodo.8132618

المؤلفون: Martina Giambra, Andrea Di Cristofori, Donatella Conconi, Matilde Marzorati, Serena Redaelli, Melissa Zambuto, Alessandra Rocca, Louis Roumy, Giorgio Carrabba, Marialuisa Lavitrano, Gaia Roversi, Carlo Giussani, Angela Bentivegna

المصدر: International Journal of Molecular Sciences; Volume 24; Issue 3; Pages: 2835

مصطلحات موضوعية: glioblastoma, peritumoural brain zone, CDK4, EXT2, malignant transformation

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Oncology; https://dx.doi.org/10.3390/ijms24032835

الاتاحة: https://doi.org/10.3390/ijms24032835

المؤلفون: Gunes, Nilay, Uludag Alkaya, Dilek, Toylu, Asli, Ozudogru, Puren, Cifci Sunamak, Evrim, Seker, Ali, Demir, Bilal

مصطلحات موضوعية: Osteochondroma, exostosis, EXT1, EXT2, Exostoses

وصف الملف: application/pdf

Relation: Turkish Archives of Pediatrics; Makale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.5152/TurkArchPediatr.2023.23011; https://search.trdizin.gov.tr/yayin/detay/1187590; https://hdl.handle.net/20.500.12831/18642; 58; WOS:001027589600005; 2-s2.0-85163591911; 1187590

الاتاحة: https://doi.org/10.5152/TurkArchPediatr.2023.23011
https://search.trdizin.gov.tr/yayin/detay/1187590
https://hdl.handle.net/20.500.12831/18642

المؤلفون: Phan, Anne Q, Pacifici, Maurizio, Esko, Jeffrey D

المصدر: Connective Tissue Research. 59(1)

مصطلحات موضوعية: Biochemistry and Cell Biology, Engineering, Biological Sciences, Biomedical Engineering, Rare Diseases, Pediatric, Pain Research, Clinical Research, Chronic Pain, Musculoskeletal, Animals, Congresses as Topic, Exostoses, Multiple Hereditary, Humans, Multiple hereditary exostoses, multiple osteochondromas, EXT1, EXT2, heparan sulfate, growth plate, skeletal development, Clinical Sciences, Biochemistry & Molecular Biology, Biochemistry and cell biology, Biomedical engineering

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/44414368

المؤلفون: Xian, Caixia, Zhu, Mingwei, Nong, Tianying, Li, Yiqiang, Xie, Xingmei, Li, Xia, Li, Jiangui, Li, Jingchun, Wu, Jianping, Shi, Weizhe, Wei, Ping, Xu, Hongwen, Tang, Ya-ping

المصدر: Genetics and Molecular Biology. January 2021 44(2)

مصطلحات موضوعية: Osteochondroma, hereditary, EXT1, EXT2, heparan sulfate

وصف الملف: text/html

URL الوصول: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572021000300112

المؤلفون: Serena Corsini, Elena Pedrini, Claudio Patavino, Maria Gnoli, Marcella Lanza, Luca Sangiorgi

المصدر: Frontiers in Endocrinology, Vol 13 (2022)

مصطلحات موضوعية: CNV detection, Targeted NGS data, Rare skeletal disease, Multiple Osteochondromas, EXT1, EXT2, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2022.874126/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/a09ca03b26e24bba9508542aa1b6cce3

المؤلفون: Chao Liang, Yong‐jie Wang, Yu‐xuan Wei, Yang Dong, Zhi‐chang Zhang

المصدر: Orthopaedic Surgery, Vol 12, Iss 3, Pp 990-996 (2020)

مصطلحات موضوعية: Bone tumor, EXT1, EXT2, Hereditary multiple exostoses, Whole‐exome sequencing, Orthopedic surgery, RD701-811

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1757-7853; https://doaj.org/toc/1757-7861

URL الوصول: https://doaj.org/article/2491ed94c5544cc199a148137fb2b38b

المؤلفون: Muhammad Ajmal, Hafsah Muhammad, Muhammad Nasir, Muhammad Shoaib, Salman Akbar Malik, Irfan Ullah

المصدر: Medicina; Volume 59; Issue 1; Pages: 100

مصطلحات موضوعية: hereditary multiple exostoses, EXT1, EXT2, heparan-sulfate, haploinsufficiency

وصف الملف: application/pdf

Relation: Genetics; https://dx.doi.org/10.3390/medicina59010100

الاتاحة: https://doi.org/10.3390/medicina59010100

المؤلفون: Krishnamoorthy Srikanth, Dirsko J. F. von Pfeil, Bryden J. Stanley, Caroline Griffitts, Heather J. Huson

المصدر: Genes; Volume 13; Issue 10; Pages: 1808

مصطلحات موضوعية: congenital laryngeal paralysis, Alaskan sled dog, Alaskan husky, GWAS, WGS, risk haplotype, CFA18, ALX4, EXT2, TSPAN53I11

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Animal Genetics and Genomics; https://dx.doi.org/10.3390/genes13101808

الاتاحة: https://doi.org/10.3390/genes13101808

المؤلفون: A. E. Yakovleva, A. L. Danilova, A. I. Fedorov, D. A. Petukhova, I. A. Nikolaeva, A. L. Sukhomyasova, N. R. Maksimova, А. Е. Яковлева, А. Л. Данилова, А. И. Федоров, Д. А. Петухова, И. А. Николаева, А. Л. Сухомясова, Н. Р. Максимова

المصدر: Medical Genetics; Том 21, № 10 (2022); 69-74 ; Медицинская генетика; Том 21, № 10 (2022); 69-74 ; 2073-7998

مصطلحات موضوعية: якуты, EXT1, EXT2, exostosin, Yakuts, экзостозин

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/2176/1643; Krooth R., Macklin M., Hilbish T. Diaphysial aclasis (multiple exostoses) in Guam. American journal of medical genetics. 1961; 13: 340-347.; Philippe C., Porter D. E., Emerton M. E. et al. Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. Genet. 1997; 61: 520-528.; Tian C., Yan R., Wen S. et al. A Splice Mutation and mRNA Decay of EXT2 Provoke Hereditary Multiple Exostoses. PLOS One 2014; 9: 1-9.; Komura S., Matsumoto K., Hirakawa A. et al. Natural History and Characteristics of Hand Exostoses in Multiple Hereditary Exostoses. Journal of Hand Surgery. 2021; 46: 815.e1-815.e12.; Чеснокова Г.Г. Изучение структурных аномалий и точковых мутаций генов ЕХТ1 и ЕХТ2 при множественной экзостозной хондродисплазии и спорадических злокачественных новообразованиях: специальность 03.00.15 «Генетика»: автореферат дис. … кандидата биологических наук: Москва: Мед. генет. науч. центр РАМН, 1999. 24 с.; Яковлева А.Е., Петухова Д.А., Голикова П.И., Гуринова Е.Е., Данилова А.Л., Сухомясова А.Л., Максимова Н.Р. Случай множественной экзостозной хондродисплазии в якутской семье, обусловленной редкой мутацией в гене EXT2. Медицинская генетика. 2019;18(12):25-33. https://doi.org/10.25557/2073-7998.2019.12.25-33; Yakovleva A., Danilova A., Petukhova D. et al. Molecular Genetic Study of Multiple Hereditary Exostoses in the ЕХТ2 Gene. Advances in Health Sciences Research. 2021; 42: 251-255.; https://www.medgen-journal.ru/jour/article/view/2176

الاتاحة: https://www.medgen-journal.ru/jour/article/view/2176
https://doi.org/10.25557/2073-7998.2022.10.69-74

المؤلفون: Sungmin Kim, Chang-Hyun Lee, Seok-Yong Choi, Myeong-Kyu Kim, Sung Taek Jung

المصدر: Journal of Clinical Medicine, Vol 11, Iss 3703, p 3703 (2022)

مصطلحات موضوعية: multiple hereditary exostoses, EXT1, EXT2, mutation, genotype, phenotype, Medicine

Relation: https://www.mdpi.com/2077-0383/11/13/3703; https://doaj.org/toc/2077-0383; https://doaj.org/article/841d00402da74558a272c0f2734e634e

الاتاحة: https://doi.org/10.3390/jcm11133703
https://doaj.org/article/841d00402da74558a272c0f2734e634e

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: D'Arienzo A, Andreani L, Sacchetti F, Colangeli S, Capanna R

المصدر: Orthopedic Research and Reviews, Vol Volume 11, Pp 199-211 (2019)

مصطلحات موضوعية: hereditary multiple exostoses, osteochondromas, ext1, ext2, heparan-sulphate synthesis, surgical and medical therapy, Orthopedic surgery, RD701-811, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: https://www.dovepress.com/hereditary-multiple-exostoses-current-insights-peer-reviewed-article-ORR; https://doaj.org/toc/1179-1462

URL الوصول: https://doaj.org/article/5318fd3b6e314fd69078acda286261d3

المؤلفون: Aditi Gupta, Sarah A. Ewing, Deborah L. Renaud, Linda Hasadsri, Kimiyo M. Raymond, Eric W. Klee, Ralitza H. Gavrilova

المصدر: Clinical Case Reports, Vol 7, Iss 4, Pp 632-637 (2019)

مصطلحات موضوعية: EXT2, genetics, NDST1, neurology, whole exome sequencing, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2050-0904

URL الوصول: https://doaj.org/article/39b8b7425ecb40a2ae62d71c80814eb6

المؤلفون: Caixia Xian, Mingwei Zhu, Tianying Nong, Yiqiang Li, Xingmei Xie, Xia Li, Jiangui Li, Jingchun Li, Jianping Wu, Weizhe Shi, Ping Wei, Hongwen Xu, Ya-ping Tang

المصدر: Genetics and Molecular Biology, Vol 44, Iss 2 (2021)

مصطلحات موضوعية: Osteochondroma, hereditary, EXT1, EXT2, heparan sulfate, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.scielo.br/pdf/gmb/v44n2/1415-4757-GMB-44-2-e20200334.pdf; http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572021000300112&tlng=en; https://doaj.org/toc/1678-4685

URL الوصول: https://doaj.org/article/ca29d6634b684148915a373f7d68c782

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: Karel Medek, Jiří Zeman, Tomáš Honzík, Hana Hansíková, Štěpánka Švecová, Kamila Beránková, Vendula Kučerová Vidrová, Miloslav Kuklík, Jiří Chomiak, Markéta Tesařová

المصدر: Prague Medical Report, Vol 118, Iss 2, Pp 87-94 (2017)

مصطلحات موضوعية: Multiple exostoses, EXT1, EXT2, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://pmr.lf1.cuni.cz/118/2/0087/; https://doaj.org/toc/1214-6994; https://doaj.org/toc/2336-2936

URL الوصول: https://doaj.org/article/5655a4c08cc24399b0246fededc219b6