Zobrazeno 1 - 10
of 324
pro vyhledávání: '"EXT2"'
Autor:
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
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Multiple osteochondromas (MO) is a rare autosomal dominant skeletal disorder characterized by the development of multiple benign tumors known as osteochondromas. The condition is predominantly caused by loss-of-function variants in the EXT1 or EXT2 g
Externí odkaz:
https://doaj.org/article/9b18c72810344e36991efc0b72f3c6ef
Autor:
Corneliu Toader, Antonio-Daniel Corlatescu, Nicolaie Dobrin, Razvan-Adrian Covache-Busuioc, Horia Petre Costin, Alexandru Vlad Ciurea
Publikováno v:
Diseases, Vol 12, Iss 7, p 165 (2024)
Introduction: Hereditary multiple exostosis or hereditary multiple osteochondromas is a very rare clinical condition. Usually, these lesions tend to occur in the pediatric population, remaining silent until adulthood. Moreover, current studies show a
Externí odkaz:
https://doaj.org/article/7be350909fd44e4898650439d4a63a7f
Akademický článek
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Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
BackgroundDespite the new next-generation sequencing (NGS) molecular approaches implemented the genetic testing in clinical diagnosis, copy number variation (CNV) detection from NGS data remains difficult mainly in the absence of bioinformatics perso
Externí odkaz:
https://doaj.org/article/a09ca03b26e24bba9508542aa1b6cce3
Publikováno v:
Orthopaedic Surgery, Vol 12, Iss 3, Pp 990-996 (2020)
Objective To find novel potential gene mutations other than EXT1 and EXT2 mutations, to expand the mutational spectrum of EXT and to explore the correlation between clinical outcome and genotype in patients with hereditary multiple exostoses (HME). M
Externí odkaz:
https://doaj.org/article/2491ed94c5544cc199a148137fb2b38b
Publikováno v:
Orthopedic Research and Reviews, Vol Volume 11, Pp 199-211 (2019)
Antonio D’Arienzo, Lorenzo Andreani, Federico Sacchetti, Simone Colangeli, Rodolfo Capanna Department of Translational Research on New Surgical and Medical Technologies, University of Pisa, Pisa, ItalyCorrespondence: Federico SacchettiDepartment of
Externí odkaz:
https://doaj.org/article/5318fd3b6e314fd69078acda286261d3
Autor:
Ewelina Bukowska-Olech, Wiktoria Trzebiatowska, Wiktor Czech, Olga Drzymała, Piotr Frąk, Franciszek Klarowski, Piotr Kłusek, Anna Szwajkowska, Aleksander Jamsheer
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Hereditary multiple exostoses (HMEs) syndrome, also known as multiple osteochondromas, represents a rare and severe human skeletal disorder. The disease is characterized by multiple benign cartilage-capped bony outgrowths, termed exostoses or osteoch
Externí odkaz:
https://doaj.org/article/2cbf938c41ff4a40a7a7e8c2c2983e8b
Autor:
Muhammad Ajmal, Hafsah Muhammad, Muhammad Nasir, Muhammad Shoaib, Salman Akbar Malik, Irfan Ullah
Publikováno v:
Medicina, Vol 59, Iss 1, p 100 (2022)
Background and Objectives: Hereditary multiple exostoses (HME) is a disease characterized by cartilage-capped bony protuberances at the site of growth plates of long bones. Functional mutations in the exostosin genes (EXT1 and EXT2) are reported to a
Externí odkaz:
https://doaj.org/article/779c1a10ef28428089c2aca7c2ae6dd2
Autor:
Aditi Gupta, Sarah A. Ewing, Deborah L. Renaud, Linda Hasadsri, Kimiyo M. Raymond, Eric W. Klee, Ralitza H. Gavrilova
Publikováno v:
Clinical Case Reports, Vol 7, Iss 4, Pp 632-637 (2019)
Key Clinical Message We report a patient with developmental delay, autism, epilepsy, macrocephaly, facial dysmorphism, gastrointestinal, and behavioral issues due to EXT2 compound heterozygous likely pathogenic variants. This case report expands the
Externí odkaz:
https://doaj.org/article/39b8b7425ecb40a2ae62d71c80814eb6
Autor:
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
Publikováno v:
Genetics and Molecular Biology, Vol 44, Iss 2 (2021)
Abstract Hereditary multiple exostoses (HME) is a rare skeletal disorder characterized by the formation of multiple benign cartilage-capped tumors, usually in the metaphyseal region of the long bones. Over 70% of HME cases arise from monoallelic muta
Externí odkaz:
https://doaj.org/article/ca29d6634b684148915a373f7d68c782