Results 81 to 90 of about 2,295 (157)

Genetic heterogeneity in families with hereditary multiple exostoses

, 1993
We have carried out a linkage analysis on 11 families segregating gene(s) for hereditary multiple exostoses (EXT). Four highly informative, short tandem-repeat (STR) markers that have been physically mapped to an interval surrounding the Langer-Giedion ...
Blanton, Susan Halloran, Puffenberger, Eric, Francomano, Claire A, Raskind, Wendy, Schellenberg, Gerard, Pauli, Richard M, Wijsman, Ellen, Conrad, Ernest U, Wells, Dan, Wagner, Michael J, Cook, April, Gregg, Ronald G, Hecht, Jacqueline T, Schmale, Gregory   +13 more
core   +1 more source

Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families

Prague Medical Report, 2017
Hereditary multiple exostoses (HME) represents a heterogeneous group of diseases often associated with progressive skeletal deformities. Most frequently, mutations in EXT1 and EXT2 genes with autosomal dominant inheritance are responsible for HME. In our
Karel Medek, Jiří Zeman, Tomáš Honzík, Hana Hansíková, Štěpánka Švecová, Kamila Beránková, Vendula Kučerová Vidrová, Miloslav Kuklík, Jiří Chomiak, Markéta Tesařová   +9 more
doaj   +1 more source

Radiation exposure in multiple hereditary exostoses: A retrospective review. [PDF]

J Orthop, 2023
Farrell ND, Dooley JH, Sheffer BW, Sawyer JR, Kelly DM.   +4 more
europepmc   +1 more source

The Gene for Hereditary Multiple Exostoses Does Not Map To the Langer-giedion Region (8q23-q24)

, 1992
Hereditary multiple exostoses is a dominantly inherited skeletal disorder which alters enchondral bone during growth and is characterised by exostoses of the juxtaepiphyseal regions.
Royer, G., Maroteaux, P., Vanmaldergem, L., Stanescu, V., Lyonnet, S., Munnich, A., Benothmane, K., Lemerrer, M.   +7 more
core   +1 more source

A Genotype-Phenotype Study of Multiple Hereditary Exostoses in Forty-Three Patients. [PDF]

J Clin Med, 2022
Kim S, Lee CH, Choi SY, Kim MK, Jung ST.
europepmc   +1 more source

Hereditary multiple exostoses and porencephaly in a Nigerian child: a case report

The Pan African Medical Journal, 2018
Hereditary multiple exostoses (HME) is a rare condition that is characterised by the outgrowth of bony swellings, usually from the growth ends of long bones. It is autosomal dominant, and may result in debilitating deformities.
Idris Abiodun Adedeji, Hamza Mustapha Ahmed, Abdulazeez Olalekan Tella, Muhammad Faruk Bashir, Yusuf Aliyu Saliu   +4 more
doaj   +1 more source

Arthroscopic anterior cruciate ligament reconstruction in a patient with multiple hereditary exostoses. [PDF]

Acta Biomed, 2021
Zmerly H, Akkawi I, Libri R, Moscato M, Di Gregori V.   +4 more
europepmc   +1 more source

Hereditary multiple exostoses

, 2005
Herediter multiple eksostoz, çok sayıda uzun kemiğin metafizinden dışarı büyüyen kıkırdakla kaplı benign kemik tümörü ile karakterize genetik bir hastalıktır. Prevalansının 1/50.000 olduğu tahmin edilmektedir.
Pirgon, Özgür, Atabek, M. Emre, Sert, Ahmet   +2 more
core  

Functional Impairment of Hip Joint and Activities of Daily Living Failure in Patients with Multiple Hereditary Exostoses. [PDF]

Indian J Orthop, 2022
Matsumoto K, Ogawa H, Komura S, Akiyama H.   +3 more
europepmc   +1 more source

Non-Traumatic Fracture of an Osteochondroma Mimicking Malignant Degeneration in an Adult with Hereditary Multiple Exostoses

, 2014
A 38-year-old man with a known history of hereditary multiple exostoses and no history of trauma presented with a painful right femur mass. While the clinical presentation was concerning for malignant degeneration or a large overlying bursitis, the ...
Matthew M. Robbins, Scott Kuo, Robert Epstein   +2 more
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