Results 131 to 140 of about 4,018 (255)

No DNA Copy Number Changes in Osteochondromas - A Comparative Genomic Hybridization Study [PDF]

, 1997
Elomaa, Inkeri, Karaharju, Erkki, Kivioja, Aarne, Knuutila, Sakari, Larramendy, Marcelo Luis, Salmivalli, Tarja, Tarkkanen, Maija, Valle, Julio   +7 more
core   +1 more source

Bone deformities with hereditary multiple osteochondromas [PDF]

INTRODUCTION. Hereditary multiple osteochondromas (HMO) is a genetic skeletal disorder caused by defects in exostosin glycosyltransferase 1 (EXT1) or 2 (EXT2) genes.
Brink Petersen, Rikke, Buch, Christina Damgaard, Færgemann, Christian, Nymark, Tine   +3 more
core   +1 more source

Mutations in the EXT1 and EXT2 Genes in Hereditary Multiple Exostoses

, 1998
Wim Wuyts, Wim Van Hul, Kristel De Boulle, Jan Hendrickx, Egbert Bakker, Filip Vanhoenacker, Florindo Mollica, Hermann‐Josef Lüdecke, Bekir Sıtkı Şaylı, Ugo E. Pazzaglia, Geert Mortier, B Hamel, Ernest U. Conrad, Mark Matsushita, W H Raskind, P J Willems   +15 more
openalex   +1 more source

Hereditary multiple exostoses with spine involvement in a 4‐year‐old boy [PDF]

, 2010
Navid Ezra, Beatrice Tetteh, Michael J. Diament, Adam J. Jonas, Patricia Dickson   +4 more
openalex   +1 more source

Femoral Neck Width Predict Low Bone Mass in Patients with Multiple Hereditary Exostoses [PDF]

, 2021
Kazu Matsumoto, Hiroyasu Ogawa, Satoshi Nozawa, Haruhiko Akiyama   +3 more
openalex   +1 more source

An R223P mutation in EXT2 gene causes hereditary multiple exostoses Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation and Polymorphism Report #108 (1999) Online http://journals.wiley.com/1059-7794/pdf/mutation/mpr108.pdf Acknowledgments: The work is funded by a grant (DMR-89-056) from China Medical College Hospital, Taichung, Taiwan.

, 2000
Yiru Shi, Jer‐Yuarn Wu, Fuu‐Jen Tsai, Cheng-Chun Lee, Chang‐Hai Tsai   +4 more
openalex   +1 more source

The Alignment and Deformity of the Upper Extremity in Hereditary Multiple Exostoses [PDF]

, 2011
Young-Woo Chung, Gi-Heon Park, Hyeong-Won Park, Sung Taek Jung   +3 more
openalex   +1 more source

A 651-665delinsTT mutation in EXT1 causes hereditary multiple exostoses

, 2001
Yiru Shi, Jer‐Yuarn Wu, Fuu‐Jen Tsai, Cheng-Chun Lee, Chang‐Hai Tsai   +4 more
openalex   +1 more source

Molecular Genetic Study of Multiple Hereditary Exostoses in the EXT2 Gene [PDF]

, 2022
Aleksandra Yakovleva, Anastasia Danilova, Д.А. Петухова, A. L. Sukhomyasova, Н. Р. Максимова   +4 more
openalex   +1 more source

Exostose múltipla hereditária com compressão medular Hereditary multiple exostosis with cervical cord compression: a case report

Arquivos de Neuro-Psiquiatria, 1975
Os autores registram um caso raro de exostose múltipla hereditária em que ocorreu compressão medular pelo crescimento de massa cartilaginosa na luz do canal raqueano.
José Jorge Facure, Nubor O. Facure, Luiz F. Castro   +2 more
doaj