Results 61 to 70 of about 3,443 (208)

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

Identification of genomic regions associated with partial resistance to Aphanomyces root rot in pea

open access: yesThe Plant Genome, Volume 18, Issue 4, December 2025.
Abstract Root rot caused by Aphanomyces euteiches is a major concern in pea (Pisum sativum L.). The lack of other effective control strategies makes crucial the development of resistant varieties. Although partial resistance has been reported, its quantitative inheritance, the association of resistance‐linked genomic regions with unfavorable agronomic ...
Sara Rodriguez‐Mena   +4 more
wiley   +1 more source

Total knee arthroplasty in patients with multiple hereditary exostoses

open access: yesArthroplasty Today, 2018
We present a case report of a patient with severe valgus deformity of the right knee due to multiple hereditary exostoses (MHEs) treated with total knee arthroplasty (TKA). The surgical management of MHE affecting the knee encompasses exostoses resection,
Samuel A. Fernandez-Perez, MD   +5 more
doaj   +1 more source

Clinical findings of candidate stallions presented for licensing at all German Warmblood horse‐breeding associations in 2018–2020

open access: yesEquine Veterinary Journal, Volume 57, Issue 6, Page 1584-1591, November 2025.
Abstract Background There is very little information available about the health status of young stallions from the German Warmblood population that will, once licensed, shape the future of equestrian sport and horse breeding. Objectives To evaluate the prevalence of clinical findings at licensing examinations of candidate stallions and the influences ...
Muriel Sarah Folgmann   +3 more
wiley   +1 more source

Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas

open access: yesTherapeutics 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  

The Pathophysiological Functions of Heparanases: From Evolution, Structural and Tissue‐Specific Perspectives

open access: yesThe FASEB Journal, Volume 39, Issue 17, 15 September 2025.
Heparanase 1 (HPSE1) and Heparanase 2 (HPSE2) exhibit opposing expression patterns and functions in pathological contexts, such as cancer. Here, we describe their specific expression in immune cells and their implications in skin diseases. Although they are structurally similar and considered to be ‘cousins’, we found no common ancestor and that HPSE2 ...
Elham Vahdatahar   +12 more
wiley   +1 more source

Multiple Hereditary Exostoses [PDF]

open access: yesHSS Journal®: The Musculoskeletal Journal of Hospital for Special Surgery, 2005
Carolyn M, Sofka   +2 more
openaire   +3 more sources

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

Direct In‐Bone Protein Digestion With Subsequent LC Separation and Trap Ion Mobility MS Detection of Released Peptides as an Effective Tool for the Proteomic Characterization of Bone Tissues

open access: yesJournal of Separation Science, Volume 48, Issue 9, September 2025.
ABSTRACT Common pathological changes in bone tissues like osteomas or exostoses remain not fully understood at the molecular level due to the difficulties in analyzing bone tissues in which they occur. Therefore, new rapid and powerful techniques are needed that could become routine tools for such analysis. The primary aim of this study was to evaluate
Lenka Peterková   +8 more
wiley   +1 more source

Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene

open access: yesMolecular 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

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