Results 101 to 110 of about 2,247 (190)

Biplanar EOS screening in children with hereditary multiple osteochondromas: a feasible screening method?

Frontiers in Pediatrics
BackgroundChildren with Hereditary Multiple Ostechondromas (HMO) require regular screening to identify gradual dysplasia or osteochondromas that need surgery.
Henrik Hedelin, Henrik Hedelin, Jenny Ahlin, Jenny Ahlin, Aina Danielsson, Aina Danielsson, Helena Brisby, Helena Brisby, Kerstin Lagerstrand, Kerstin Lagerstrand   +9 more
doaj   +1 more source

One-Bone Forearm Procedure for Severe Recalcitrant Forearm Deformities in Masada IIb Hereditary Multiple Exostoses. [PDF]

Indian J Orthop, 2023
Agashe MV, Shah M, Choudhry A, Shah A, Agarwal S, Vaidya S.   +5 more
europepmc   +1 more source

Integration of SHH and WNT pathways controls morphogenesis of the CNS. [PDF]

, 2008
[eng] Dorsoventral patterning of the vertebrate nervous system is achieved by the combined activity of morphogenetic signals secreted from dorsal and ventral signalling centres. The Shh/Gli pathway plays a major role in patterning the ventral neural tube;
Álvarez Medina, José Roberto
core  

Haploinsufficiency of EXT1 and Heparan Sulphate Deficiency Associated with Hereditary Multiple Exostoses in a Pakistani Family. [PDF]

Medicina (Kaunas), 2022
Ajmal M, Muhammad H, Nasir M, Shoaib M, Malik SA, Ullah I.   +5 more
europepmc   +1 more source

Fibular Lengthening for the Management of Translational Talus Instability in Hereditary Multiple Exostoses Patients

, 2014
Hereditary multiple exostoses (HME) patients frequently present with ankle valgus deformity and marked fibular shortening. Loss of the lateral buttress may cause translational talus instability (TTI) that manifests as ankle pain after physical exercise ...
Choi, Eun Seok, Choi, In Ho, Park, Moon Seok, Cho, Tae-Joon, Song, Mi Hyun, Chung, Chin Youb, Yoo, Won Joon, Kim, Joong Il, Lee, Dong Yeon   +8 more
core   +1 more source

Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.

, 1998
Hereditary multiple exostoses (EXT; MIM 133700) is an autosomal dominant bone disorder characterized by the presence of multiple benign cartilage-capped tumors (exostoses).
WUYTS W, Raskind WH, PAZZAGLIA, Ugo, MOLLICA F, WILLEMS PJ, BAKKER E, SAYLI BS, VAN HUL W, CONRAD EU, Hendrickx J, HANDRICKX J, VANHOENACKER F, RASHIND WH, MORTIER G, HAMEL B, DE BOULLE K, LUDECKE HJ, MATSUSHITA M   +17 more
core   +1 more source

Experience of chronic pain and stigma in an adolescent with hereditary multiple osteochondromas: a case report

Journal of Rare Diseases
Experiencing the effects of a rare disease during childhood shapes development. Children with rare diseases may experience mental health challenges, bullying, and/or stigmatization, along with missing key opportunities for social development such as ...
Emily A. Holz
doaj   +1 more source

A Case Report of Trevor's Disease in a Pediatric Patient with Hereditary Multiple Exostoses Disease. [PDF]

J Orthop Case Rep, 2021
Torrez TW, Marks E, Strom S, Doyle JS.
europepmc   +1 more source

Germline mutations in the EXT1 and EXT2 genes in Korean patients with hereditary multiple exostoses.

, 1999
Hereditary multiple exostoses (EXT) is an autosomal dominantly inherited disease characterized by the formation of cartilage-capped prominences (exostoses) that develop from the juxtaepiphyseal regions of the long bones.
Ku, JL, Park, JG, Monaco, Anthony, Shin, KH, Lee, SH, Monaco, AP, Park, KJ, Phillipe, C, Cho, TJ, Choi, IH, Porter, DE   +10 more
core   +1 more source

Hereditary Multiple Exostoses: Genetic, Radiologic, and Oncologic Insights from Twenty-one Patients

Acta Haematologica Oncologica Turcica
Aim: To characterize the clinical, radiological, and genetic features of genetically confirmed hereditary multiple exostoses (HME) in patients presenting with multiple exostoses and to contribute to the understanding of the phenotypic and genotypic ...
Abdulkerim Kolkıran, Melike Ataseven Kulalı, Tuğba Daşar, Firdevs Dinçsoy Bir, Ahmet Kablan, Şükriye Yılmaz, Alişan Daylak, Şule Yeşil, Gürses Şahin   +8 more
doaj   +1 more source