المؤلفون: Gozde Atasever Yildirim, Ozlem Anlas, Rabia Miray Kisla Ekinci

المصدر: Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-6 (2024)

مصطلحات موضوعية: Child, Exostoses, EXT1, Osteochondroma, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-2441

URL الوصول: https://doaj.org/article/55f8085ad666464ea5d51b46a7d1c8e5

المؤلفون: Rongqi Jiang, Ping Li, Enqing Meng, Xu Cheng, Xinyi Wu, Hao Wu

المصدر: Translational Oncology, Vol 48, Iss , Pp 102004- (2024)

مصطلحات موضوعية: Circ_0008035, EXT1, PKM2, Immune evasion, Gastric cancer, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1936523324001311; https://doaj.org/toc/1936-5233

URL الوصول: https://doaj.org/article/35fd60d4f3d145228e9be4b83533c5c0

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: Angelos Alexandrou, Nicole Salameh, Ioannis Papaevripidou, Nayia Nicolaou, Panayiotis Myrianthopoulos, Andria Ketoni, Ludmila Kousoulidou, Anna-Maria Anastasiou, Paola Evangelidou, George A. Tanteles, Carolina Sismani

المصدر: Molecular Cytogenetics, Vol 16, Iss 1, Pp 1-7 (2023)

مصطلحات موضوعية: Hereditary multiple exostoses, EXT1, Complex chromosomal rearrangement, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8166

URL الوصول: https://doaj.org/article/0a911331793b4b76a40738f99bf0e9cb

المؤلفون: Bachvarova, Velina, Dierker, Tabea, Esko, Jeffrey, Hoffmann, Daniel, Kjellén, Lena, Vortkamp, Andrea

المصدر: Matrix Biology. 93:43-59

مصطلحات موضوعية: Heparan sulfate, Chondroitin sulfate, Ext1, Hs2st1, Chondrocytes, Extracellular matrix, Endochondral ossification

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-431851
https://doi.org/10.1016/j.matbio.2020.03.006
https://uu.diva-portal.org/smash/get/diva2:1519001/FULLTEXT01.pdf

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: 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: Wanlu Liu, Xinwei Shi, Yuqi Li, Fuyuan Qiao, Yuanyuan Wu

المصدر: Clinical Case Reports, Vol 10, Iss 9, Pp n/a-n/a (2022)

مصطلحات موضوعية: EXT1, frameshift insertion mutation, hereditary multiple exostoses, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/3da96b9c111c4363ac0801a0b3ee8ed6

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: Disheng Wu, Chao Huo, Siyu Jiang, Yanxia Huang, Xuehong Fang, Jun Liu, Min Yang, Jianwei Ren, Bilian Xu, Yi Liu

المصدر: Cancer Medicine, Vol 10, Iss 8, Pp 2787-2801 (2021)

مصطلحات موضوعية: bioinformatics analysis, biomarker, EXT1, lung squamous cell carcinoma, prognosis, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-7634

URL الوصول: https://doaj.org/article/3dc3d5d9fda94e3995ead47a93e51dc1

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: Zayed Al-Zayed, Roua A. Al-Rijjal, Lamya Al-Ghofaili, Huda A. BinEssa, Rajeev Pant, Anwar Alrabiah, Thamer Al-Hussainan, Minjing Zou, Brian F. Meyer, Yufei Shi

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)

مصطلحات موضوعية: EXT1, EXT12, Mutation, Exostoses, Osteochondromas, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/e244caec184d480a9e099b3967d703d4

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: Rachel K. Okolicsanyi, Julia Bluhm, Cassandra Miller, Lyn R. Griffiths, Larisa M. Haupt

المصدر: Human Genomics, Vol 14, Iss 1, Pp 1-15 (2020)

مصطلحات موضوعية: Syndecans, Glypicans, HSPG, Multiple sclerosis, SNP, EXT1, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s40246-020-00264-6; https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/ee91755591454b90bdd5d72d47753f55

المؤلفون: Jianwei Li, Zhiqiang Wang, Yaxin Han, Chengfang Jin, Dalin Cheng, Yong‐An Zhou, Junping Zhen

المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 3, Pp n/a-n/a (2022)

مصطلحات موضوعية: c.1056 + 1G > T, EXT1, hereditary multiple exostosis, splicing variant, whole exome sequencing, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/24c601668d0b487a8a4cd8df461c1b73

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: 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