Results 71 to 80 of about 3,459 (205)
Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns
Among 99 asymptomatic newborns with abnormal low‐resolution chromosomal microarray (LR‐CMA) screening, 70.7% harbored microduplication/microdeletions with syndromic implications. However, only a minority exhibited developmental concerns during early follow‐up, highlighting the need for cautious interpretation.
Naye Choi, Hwa Young Kim, Jung Min Ko
wiley +1 more source
A biofabricated 3D in vitro model recapitulating endochondral ossification (ECO) is described, mimicking the steps from condensation to chondrogenesis and hypertrophy, culminating with vascularization of the hypertrophic construct. As a model proof of concept application, Ewing Sarcoma cells are seeded in the model, showing modifications in their ...
Maria Vittoria Colombo +13 more
wiley +1 more source
Hereditary multiple exostoses: an educational review
Hereditary multiple exostoses (HME), an autosomal dominant disorder with an incidence of 1:50,000 to 1:100,000, is characterised by the formation of multiple osteochondromas arising from the metaphyses of long and flat bones.
Alvaro Rueda-de-Eusebio +5 more
doaj +1 more source
Solitary Metacarpal Osteochondroma; an Unusual Location
Although, osteochondroma is the most common bone tumor, metacarpal involvement is quite uncommon and usually accompanies multiple hereditary exostoses.
Aziz Atik +4 more
doaj +1 more source
ABSTRACT Objective The aim of this study was to determine the prevalence of oral alterations detectable through physical examination in NF1 individuals. Additionally, we assessed the correlation between the number of oral and cutaneous neurofibromas. Design This retrospective study evaluated oral alterations in individuals with and without NF1.
Pâmella de Pinho Montovani +3 more
wiley +1 more source
New Spontaneous Model of Fibrodysplasia Ossificans Progressiva [PDF]
We report the first known example of spontaneous, naturally occurring fibrodysplasia ossificans progressiva (FOP) in a mammal. The Southeast Asian mouse deer of the genus _Tragulus_ (Artiodactyla: Tragulidae) have an osseous sheath covering the lower ...
Bruce Rothschild +2 more
core +1 more source
Genetic hearing loss: a study of 228 Brazilian patients [PDF]
We studied 228 patients, with suspected or confirmed genetic hearing loss, in order to determine the clinical and genetic diagnoses and etiology of each case.
Brunoni, Decio +1 more
core +3 more sources
Osteochondroma of the mandibular condyle: Resection and reconstruction using vertical sliding osteotomy of the mandibular ramus [PDF]
Osteochondroma is one of the most common benign bone tumours, although not in the craniofacial region. More than half of these appear in the coronoid process.
Escrig de Teigeiro, M. +4 more
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Osteochondroma is the most common benign bone tumor; however, its presentation in the small bones of the appendicular skeleton, particularly the talus and subtalar joint, is quite rare. Although most cases of osteochondroma are asymptomatic, symptomatic presentations can lead to joint deformity, pain, swelling, tarsal tunnel syndrome, gait alterations,
Andrea Montalbano +4 more
wiley +1 more source
Familiäre Tumorerkrankungen im Knochen [PDF]
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

