Results 71 to 80 of about 5,497,492 (144)

Unsuspected osteochondroma-like outgrowths in the cranial base of Hereditary Multiple Exostoses patients and modeling and treatment with a BMP antagonist in mice

PLoS Genetics, 2017
Hereditary Multiple Exostoses (HME) is a rare pediatric disorder caused by loss-of-function mutations in the genes encoding the heparan sulfate (HS)-synthesizing enzymes EXT1 or EXT2.
Sayantani Sinha, Christina Mundy, Till E Bechtold, F. Sgariglia, M. Ibrahim, P. Billings, K. Carroll, E. Koyama, Kevin B. Jones, M. Pacifici   +9 more
semanticscholar   +1 more source

Gradual ulnar lengthening in children with multiple exostoses and radial head dislocation: results at skeletal maturity

Journal of Children's Orthopaedics, 2016
PurposeDeformities of the forearm and shortening of the ulna occur in 30 % of patients with hereditary multiple exostoses (HME), leading to radial head dislocation and loss of movement.
R. D’Ambrosi, A. Barbato, C. Caldarini, E. Biancardi, R. Facchini   +4 more
semanticscholar   +1 more source

Cardiac fibrosis in aging mice [PDF]

, 2016
Dystrophic cardiac calcinosis (DCC), also called epicardial and myocardial fibrosis and mineralization, has been detected in mice of a number of laboratory inbred strains, most commonly C3H/HeJ and DBA/2J. In previous mouse breeding studies between these
A Berndt, A Berndt, A Berndt, A Berndt, A Berndt, Annerose Berndt, AS Leme, Beth A. Sundberg, BT Ivandic, BT Ivandic, C Berthonneche, CD Rau, CH Firth, Clinton L. Cario, E Birkenmeier, G Jurisic, GJ Eaton, H Meng, HI Hamouda, HM Kang, IA Adzhubei, IJ Bristol, IN Mungrue, J Beckwith, J Uitto, JF Klement, JF Van Vleet, John P. Sundberg, Jouni Uitto, JP Sundberg, JP Sundberg, JP Sundberg, K Flurky, KA Silva, Kathleen A. Silva, M Atiq, M Ignat, M Koch, M Mahler, M Mahler, MA Farmer, Matthew A. Richardson, MC Hu, N Neu, P Vogel, Paul N. Schofield, PN Schofield, PN Schofield, Q Li, Q Li, Q Li, Q Li, Q Li, Q Li, Qiaoli Li, SJ Brown, SN Chen, SR Brunnert, T DiTommaso, TA Hough, TG Gorgels, TH Chase, Thomas H. Chase, U Kornak, U Mohr, Victoria E. Kennedy, VS Peche, Y Kim, Y Le Corre, Z Aherrahrou   +69 more
core   +2 more sources

A novel splice mutation induces exon skipping of the EXT1 gene in patients with hereditary multiple exostoses

International Journal of Oncology, 2019
The molecular mechanism of hereditary multiple exostoses (HME) remains ambiguous and a limited number of studies have investigated the pathogenic mechanism of mutations in patients with HME.
Xiaoyan Guo, Mingrui Lin, Wei Yan, Wenxu Chen, G. Hong   +4 more
semanticscholar   +1 more source

Hereditary multiple exostoses (HME) [PDF]

Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011
Review on Hereditary multiple exostoses (HME), with data on clinics, and the genes involved.
openaire   +3 more sources

Familiäre Tumorerkrankungen im Knochen [PDF]

, 2018
Zusammenfassung: Familiäre Erkrankungen, die zur Bildung von Knochentumoren führen, sind selten. Sie entwickeln sich im Zusammenhang mit genetischen Alterationen, die den Zellzyklus (Retinoblastomsyndrom/RB1, Li-Fraumeni-Syndrom/p53), wachstumssteuernde ...
Baumhoer, D., Jundt, G.
core  

Injuries, Ill-Health and Fatalities in White Water Rafting and White Water Paddling [PDF]

, 2013
White water (WW) activities such as paddling (canoeing and kayaking) and rafting are popular sports for recreational and professional participants. An increase in participation has been seen worldwide. However, these activities come with a risk of injury
A Cooper, CA Wassinger, D Chalmers, D O’Hare, DC Fiore, DC Fiore, DM Jackson, EA Weiss, Eef Hogervorst, Fehmidah Munir, Hilary McDermott, Iain Wilson, JE Krupnick, JV Lee, M Attenburrow, M Boland, O Kameyama, R Philipp, RG Schoen, SA Whisman, T Bentley, T Bentley, TA Bentley   +22 more
core   +1 more source

Hereditary Multiple Exostoses: Current Insights

Orthopedic Research and Reviews, 2019
Hereditary multiple exostoses (HME), also called hereditary multiple osteochondromas, is a rare genetic disorder characterized by multiple osteochondromas that grow near the growth plates of bones such as the ribs, pelvis, vertebrae and especially long ...
A. D'Arienzo, L. Andreani, F. Sacchetti, Simone Colangeli, R. Capanna   +4 more
semanticscholar   +1 more source

Multiple Hereditary Exostoses [PDF]

HSS Journal®: The Musculoskeletal Journal of Hospital for Special Surgery, 2005
Gregory R. Saboeiro, Carolyn M. Sofka, Robert J. Schneider   +2 more
openaire   +3 more sources

Radiological conference. Osteopoikilosis [PDF]

, 1998
published_or_final_versio
Peh, WCG, Wong, LLS
core