Association of autism in two patients with hereditary multiple exostoses caused by novel deletion mutations of EXT1 [PDF]
, 2002 H. Li +3 more
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An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas [PDF]
, 2005 Wim Wuyts +3 more
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Molecular Oncology, Volume 19, Issue S1, Page 1-940, June 2025.Abstracts submitted to the ‘EACR 2025 Congress: Innovative Cancer Science’, from 16–19 June 2025 and accepted by the Congress Organising Committee are published in this Supplement of Molecular Oncology, an affiliated journal of the European Association for Cancer Research (EACR).
wiley +1 more source
A Novel EXT1 Splice Site Mutation in a Kindred with Hereditary Multiple Exostosis and Osteoporosis [PDF]
, 2005 Manuel C. Lemos +7 more
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Mutation Screening of EXT1 and EXT2 by Denaturing High-Performance Liquid Chromatography, Direct Sequencing Analysis, Fluorescence in Situ Hybridization, and a New Multiplex Ligation-Dependent Probe Amplification Probe Set in Patients with Multiple Osteochondromas [PDF]
, 2007 Ivy Jennes +5 more
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Mutation in the Heparan Sulfate Biosynthesis Enzyme EXT1 Influences Growth Factor Signaling and Fibroblast Interactions with the Extracellular Matrix [PDF]
, 2009 Cecilia Österholm +5 more
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Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas
Therapeutics and Clinical Risk Management, 2016 Susan Akbaroghli,1,* Maryam Balali,2,* Behnam Kamalidehghan,3,4 Siamak Saber,4 Omid Aryani,5 Goh Yong Meng,6 Massoud Houshmand4 1Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, 2ENT and Head & Neck Research Center ...
Akbaroghli S +6 more
doaj
The EXT1/EXT2 tumor suppressors: catalytic activities and role in heparan sulfate biosynthesis
, 2000 Claire Senay +8 more
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Epiphyseal abnormalities, trabecular bone loss and articular chondrocyte hypertrophy develop in the long bones of postnatal Ext1-deficient mice [PDF]
, 2013 Federica Sgariglia +7 more
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Structural basis for heparan sulfate co-polymerase action by the EXT1–2 complex
, 2023 Hua Li +5 more
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