Results 71 to 80 of about 3,459 (205)

Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns

open access: yesJournal of Clinical Laboratory Analysis, Volume 40, Issue 3, February 2026.
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 Vascularized Microphysiological System Reproducing Endochondral Ossification in Vitro to Study Ewing Sarcoma Proliferation and Migration

open access: yesAdvanced Functional Materials, Volume 36, Issue 3, 8 January 2026.
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

open access: yesInsights into Imaging
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

open access: yesMedicine Science, 2014
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

Prevalence of Oral Alterations and Correlation Between Oral and Cutaneous Neurofibromas in Neurofibromatosis Type 1: A Retrospective Case–Control Study

open access: yesJournal of Oral Pathology &Medicine, Volume 55, Issue 1, Page 155-160, January 2026.
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]

open access: yes, 2008
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]

open access: yes, 2000
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]

open access: yes, 2009
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
core  

Differentiation of Pediatric Osteochondroma From Trevor′s Disease and Successful Surgical Management: A Case Report

open access: yesCase Reports in Orthopedics, Volume 2026, Issue 1, 2026.
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]

open access: yes, 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  

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