Results 71 to 80 of about 4,018 (255)
Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene
Molecular Cytogenetics, 2023 Background Hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder characterized by the development of multiple, circumscript and usually symmetric bony protuberances called osteochondromas.
Angelos Alexandrou +10 more
doaj +1 more source
Journal of Anatomy, Volume 247, Issue 3-4, Page 856-868, September/October 2025.Overview of XS of pathological radius. Using anatomical descriptions, CT scanning and bone histology, we investigate several skeletal overgrowths of bone (exostoses) in the skeleton of a jackal‐like canid from the world famous Langebaanweg, a Mio‐Pliocene locality in South Africa.
Anusuya Chinsamy, Alberto Valenciano
wiley +1 more source
Solitary Metacarpal Osteochondroma; an Unusual Location
Medicine 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
Genetic hearing loss: a study of 228 Brazilian patients [PDF]
, 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
Journal of Anatomy, Volume 247, Issue 3-4, Page 466-487, September/October 2025.The present contribution brings new osteohistological information on the postcranial bones of Kawanectes lafquenianum and shed some light on Plesiosauria microanatomy and microstructure. The bone architecture shows variability between forelimbs and hindlimbs.
M. E. Pereyra, J. O'Gorman, A. Chinsamy
wiley +1 more source
Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas
Therapeutics and Clinical Risk Management, 2016 Susan Akbaroghli,1,* Maryam Balali,2,* Behnam Kamalidehghan,3,4 Siamak Saber,4 Omid Aryani,5 Goh Yong Meng,6 Massoud Houshmand4 1Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, 2ENT and Head & Neck Research Center ...
Akbaroghli S +6 more
doaj
Hereditary multiple exostoses: report of a kindred. [PDF]
Journal of Medical Genetics, 1981 In a large family with 37 members with multiple exostoses, only one person has developed sarcomatous degeneration of a lesion. Our review of published reports revealed great variation in the incidence of malignancy in multiple exostoses (10 to 25%). Most studies had sampling errors leading to the apparent overstatement of risk.
Roger L. Ladda, S L Gordon, J R Buchanan
openaire +3 more sources
Wilms Tumor in Children With AMER1/WTX Germline Pathogenic Variants: A Multicenter Case Series
Pediatric Blood &Cancer, Volume 72, Issue 8, August 2025.ABSTRACT Background 10–15% of children with Wilms tumor (WT) have predisposing genetic syndromes. Somatic mutations are frequently identified; however, germline pathogenic variants in AMER1 are much less prevalent and are associated with osteopathia striata with cranial sclerosis (OSCS).
Insiyah Campwala +9 more
wiley +1 more source
Pain and Depression in Pediatric Hereditary Multiple Exostoses Patients
Acta Medica Alanya, 2019 Aim: In this study, we sought to evaluate the complications of Hereditary Multiple Exostosis (HME) particularly the presence of pain, and its effects on pediatric and adolescent groups.Patients and Methods: 72 (37male/32female) patients aging between 10 ...
Osman Emre Aycan
doaj +1 more source
A novel deletion mutation of the EXT2 gene in a large Chinese pedigree with hereditary multiple exostosis [PDF]
, 2001 Hereditary multiple exostoses (EXT) is an autosomal dominant disease characterized by the formation of cartilage-capped prominences (exostoses) that develop from the juxta-epiphyseal regions of the long bones.
Ahn J +32 more
core +2 more sources