Results 41 to 50 of about 207,293 (322)
Genetics in Medicine, 2010 The skeletal dysplasias (osteochondrodysplasias) are a heterogeneous group of more than 350 disorders frequently associated with orthopedic complications and varying degrees of dwarfism or short stature. These disorders are diagnosed based on radiographic, clinical, and molecular criteria.
Deborah Krakow +2 more
openaire +2 more sources
Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 469-478, February 2023., 2023 Abstract The non‐POU domain‐containing octamer‐binding (NONO) protein is involved in multiple steps of gene regulation such as RNA metabolism and DNA repair. Hemizygous pathogenic variants in the NONO gene were confirmed to cause a rare X‐linked syndromic disorder. Through our in‐house diagnostics and subsequent matchmaking, we identified six unrelated
Franziska Roessler +21 more
wiley +1 more source
Genetic effects of rs3740199 polymorphism in ADAM12 gene on knee osteoarthritis: a meta-analysis
Journal of Orthopaedic Surgery and Research, 2017 Background Knee osteoarthritis (OA) is a complex arthritic condition in which genetic factors play an important role. ADAM12 gene is one of the recognized candidate genes although the results are conflicting.
Zheng Hao +4 more
doaj +1 more source
Developmental dysplasia of the hip: update of management
EFORT Open Reviews, 2019 The term ‘developmental dysplasia of the hip’ (DDH) includes a wide spectrum of hip alterations: neonatal instability; acetabular dysplasia; hip subluxation; and true dislocation of the hip.
A. Vaquero-Picado +3 more
semanticscholar +1 more source
Journal of Oral and Maxillofacial Pathology, 2019 After more than a decade, the World Health Organization (WHO) published the revised grading system for oral epithelial dysplasia in 2017. The revised classification has changes reflecting our evolution of understanding of the dysplastic process. Although
K. Ranganathan, Loganathan Kavitha
semanticscholar +1 more source
Gastroenterologìa, 2017 The present study was undertaken to analyze biopsies in 120 cases of chronic reflux gastritis with the help of modern histological, histochemical and morphometric methods.
Yu.M. Stepanov +2 more
doaj +1 more source
Undulation Instability of Epithelial Tissues [PDF]
Phys. Rev. Lett. 106, 158101 (2011), 2011 Treating the epithelium as an incompressible fluid adjacent to a viscoelastic stroma, we find a novel hydrodynamic instability that leads to the formation of protrusions of the epithelium into the stroma. This instability is a candidate for epithelial fingering observed in vivo.
arxiv +1 more source
Taiwanese Journal of Obstetrics & Gynecology, 2012 Objective: Mucinous cystic neoplasm (MCN) of the pancreas occurs mainly in women aged 40–60 years, so it is extremely rare in pregnant woman. Case Report: A 28-year-old woman in the ninth week of pregnancy was referred to our hospital due to a tumor of ...
Hiroyuki Tsuda +5 more
doaj +1 more source
Focal cortical dysplasia as a cause of epilepsy: the current evidence of associated genes and future therapeutic treatments [PDF]
arXiv, 2022 Focal cortical dysplasias (FCDs) are the most common cause of treatment resistant epilepsy affecting the pediatric population. Most individuals with FCD have seizure onset during the first five years of life and the majority will have seizures by the age of sixteen.
arxiv
Association of Chorioamnionitis With Bronchopulmonary Dysplasia Among Preterm Infants
JAMA Network Open, 2019 Key Points Question Is chorioamnionitis a risk factor for developing bronchopulmonary dysplasia in preterm infants? Findings This systematic review, meta-analysis, and metaregression found that chorioamnionitis was associated with an increased risk of ...
Eduardo Villamor-Martínez +6 more
semanticscholar +1 more source