Results 81 to 90 of about 20,986 (228)
Developmental Dynamics, Volume 255, Issue 3, Page 228-245, March 2026.Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki +6 more
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Multiple Hereditary Exostoses.
Radiologic technology, 2016 Multiple hereditary exostoses (MHE), also known as multiple osteochondromas, is an autosomal dominant disease that results in the development of osteochondromas throughout the body. The disease typically is diagnosed during childhood and requires lifelong monitoring and treatment of painful osteochondromas.
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Aggregate, Volume 7, Issue 2, February 2026.Golgi apparatus‐associated secretome is crucial for cell communications. This work introduces a novel application of aggregation‐induced emission luminogen for Golgi‐targeted labeling, and provides a robust chemical tool that enables proteome mapping within the Golgi lumen in situ with precise spatiotemporal control and high efficiency, achieving dual ...
He Wang +8 more
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Current status of the torus palatinus and torus mandibularis [PDF]
, 2010 While there is a hereditary component to tori, this does not explain all cases. Tori tend to appear more frequently during middle age of life; the torus palatinus is more commonly observed in females, but this is not the case with the torus ...
García García, Andrés S. +4 more
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Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns
Journal 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
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Frontiers in SurgeryBackgroundThe pathogenesis of hereditary multiple exostoses is mainly related to genetic variants and often requires surgical resection when it causes clinical symptoms.
Haiting Jia, Yuting Wang, Tao Liu
doaj +1 more source
Advanced 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
Case Reports in Orthopedics, 2018 Introduction. Multiple hereditary exostoses (MHE) is a rare autosomal dominant disorder characterized by the presence of multiple skeletal deformities. They are painless slow-growing lesions. Malignant transformation tends to occur later in adulthood and
Emmanuel Bukara +6 more
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Two Siblings Followed Up for Hereditary Multiple Exostoses
Haseki Tıp Bülteni, 2014 Hereditary multiple exostoses is an autosomal dominant disease with abnormal bone formation especially at the long bones. Osteochondromas, which occur in the course of the disease, can cause growth disturbances in affected children.
Meltem Erol +7 more
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Hereditary Multiple Exostoses and Orthopaedist- Till the Plausible Management Evolves [PDF]
Journal of Clinical and Diagnostic Research, 2019 Introduction: Hereditary Multiple Exostoses (HME) is an inherited genetic skeletal disorder of enchondral bone. It is an autosomal dominant disorder affecting juxtaepiphyseal region of the long bones and includes multiple exostoses.
Pankaj Kumar Mishra +2 more
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