Results 101 to 110 of about 6,285,374 (227)

Pain in patients with multiple inherited osteochondromas: Incidence and potential prognostic factors. A retrospective cohort study

open access: yesJournal of Bone Oncology
Purpose: the purpose of this study was to describe the baseline characteristics, presenting phenotype and treatment interventions for patients diagnosed with multiple osteochondromas who presented with severe pain symptoms.
Morena Tremosini   +8 more
doaj   +1 more source

Biting into the Genome to Phenome Map: Developmental Genetic Modularity of Cichlid Fish Dentitions [PDF]

open access: yes, 2016
Within vertebrates, teleost fishes provide a rich evolutionary context for studying the mechanisms of dental divergence because of the numerous axes along which their teeth have diverged phenotypically and presumably developmentally.
Fraser, G.J., Hulsey, C.D., Meyer, A.
core   +1 more source

Multiple Subungual Osteochondromas: A Case Report

open access: yesJournal of the Korean Orthopaedic Association, 2004
The osteochondroma is a common benign bone tumor, which is only rarely observed in a subungal loca-tion, especially in the fingers. We present a case of multiple subungal osteochondromas, which occurred in the distal phalanges causing nail deformities and pain.
Goo Hyun Baek   +2 more
openaire   +1 more source

Novel Nonsense Mutation in SMARCD2 Gene Results in Dysplasia of All Myeloid Cell Lines

open access: yeseJHaem, Volume 6, Issue 6, December 2025.
ABSTRACT Introduction Specific granule deficiency type II (SGD2) is a rare heterogeneous congenital disease characterized by early‐onset life‐threatening infections. SGD2 is caused by autosomal recessive mutations in the SMARCD2 gene. Methods Prenatal screening in our patient revealed a novel homozygous nonsense mutation in SMARCD2 (c.208C>T, p.Gln70*).
Michelle A. E. Brouwer   +6 more
wiley   +1 more source

Radiological conference. Enchondroma [PDF]

open access: yes, 1998
published_or_final_versio
Peh, WCG, Wong, LLS
core  

Clinical Aspects of Feline Retroviruses: A Review [PDF]

open access: yes, 2012
Feline leukemia virus (FeLV) and feline immunodeficiency virus (FIV) are retroviruses with global impact on the health of domestic cats. The two viruses differ in their potential to cause disease.
Ackley   +100 more
core   +3 more sources

Musculoskeletal Diseases: Mechanisms and Therapeutic Advances

open access: yesMedComm, Volume 6, Issue 12, December 2025.
Musculoskeletal diseases comprise a broad spectrum of inflammatory, degenerative, and neoplastic disorders. Increasing evidence highlights the central role of immune regulation in their pathogenesis, with complex interactions among immune, bone, muscle, and stromal cells.
Xiao Ma   +17 more
wiley   +1 more source

Characterization of microRNA expression profiles in normal and osteoarthritic human chondrocytes [PDF]

open access: yes, 2012
[Abstract] Background. Osteoarthritis (OA) is a multifactorial disease characterized by destruction of the articular cartilage due to environmental, mechanical and genetic components.
Blanco García, Francisco J   +6 more
core   +2 more sources

An Integrative Genotyping and Gene Expression Profiling of the Mutated Human FAM111B Gene and Fibrosis‐Associated Pathway in the POIKTMP Syndrome

open access: yesJournal of Cellular and Molecular Medicine, Volume 29, Issue 19, October 2025.
ABSTRACT Poikiloderma with tendon contracture, myopathy and pulmonary fibrosis (POIKTMP) is a rare hereditary disorder caused by mutations in the FAM111B gene, characterised by multi‐organ fibrosis, particularly affecting the lungs. This study investigates the molecular mechanisms of fibrosis in POIKTMP through genotyping and gene expression profiling ...
Nadine Tambwe   +4 more
wiley   +1 more source

Involvement of a citrus meiotic recombination TTC-repeat motif in the formation of gross deletions generated by ionizing radiation and MULE activation [PDF]

open access: yes, 2015
Background: Transposable-element mediated chromosomal rearrangements require the involvement of two transposons and two double-strand breaks (DSB) located in close proximity.
Concetta Licciardello   +8 more
core   +2 more sources

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