Results 21 to 30 of about 10,063 (203)

FGF4 retrogene on CFA12 is responsible for chondrodystrophy and intervertebral disc disease in dogs. [PDF]

, 2017
Chondrodystrophy in dogs is defined by dysplastic, shortened long bones and premature degeneration and calcification of intervertebral discs. Independent genome-wide association analyses for skeletal dysplasia (short limbs) within a single breed ...
Aguilar, Miriam, Bannasch, Danika L, Brown, C Titus, Brown, Emily A, Dickinson, Peter J, Ettinger, Cassandra L, Korff, Courtney, Lind, Jenna, Mansour, Tamer, Pollard, Rachel, Raudsepp, Terje, Sturges, Beverly K, Varon, Samuel, Young, Amy E   +13 more
core   +2 more sources

Achondroplasia

Nursing Children and Young People, 2016
Achondroplasia, like all syndromes, is recognised by a collection of typical anomalies. It is a cause of short stature; the average adult height being about 4 feet.
Doreen, Crawford, Annette, Dearmun
  +5 more sources

Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients

BMC Pediatrics, 2022
Background Achondroplasia is the most common bone dysplasia associated with disproportionate short stature, and other comorbidities, such as foramen magnum stenosis, thoracolumbar kyphosis, lumbar hyperlordosis, genu varum and spinal compression ...
Juan Llerena, Chong Ae Kim, Virginia Fano, Pablo Rosselli, Paulo Ferrez Collett-Solberg, Paula Frassinetti Vasconcelos de Medeiros, Mariana del Pino, Débora Bertola, Charles Marques Lourenço, Denise Pontes Cavalcanti, Têmis Maria Félix, Antonio Rosa-Bellas, Norma Teresa Rossi, Fanny Cortes, Flávia Abreu, Nicolette Cavalcanti, Maria Cecilia Hervias Ruz, Wagner Baratela   +17 more
doaj   +1 more source

Gait in children with achondroplasia – a cross-sectional study on joint kinematics and kinetics

BMC Musculoskeletal Disorders, 2022
Background Children with achondroplasia have extreme short stature due to short limbs, as well as several other clinical features that may affect their gait.
Eva W. Broström, Lotte Antonissen, Johan von Heideken, Anna-Clara Esbjörnsson, Lars Hagenäs, Josefine E. Naili   +5 more
doaj   +1 more source

Real-world evidence in achondroplasia: considerations for a standardized data set

Orphanet Journal of Rare Diseases, 2023
Background Collection of real-world evidence (RWE) is important in achondroplasia. Development of a prospective, shared, international resource that follows the principles of findability, accessibility, interoperability, and reuse of digital assets, and ...
Yasemin Alanay, Klaus Mohnike, Ola Nilsson, Inês Alves, Moeenaldeen AlSayed, Natasha M. Appelman-Dijkstra, Genevieve Baujat, Tawfeg Ben-Omran, Sandra Breyer, Valerie Cormier-Daire, Pernille Axél Gregersen, Encarna Guillén-Navarro, Wolfgang Högler, Mohamad Maghnie, Swati Mukherjee, Shelda Cohen, Jeanne Pimenta, Angelo Selicorni, J. Oliver Semler, Sabine Sigaudy, Dmitry Popkov, Ian Sabir, Susana Noval, Marco Sessa, Melita Irving   +24 more
doaj   +1 more source

Complex Primary Total Knee Arthroplasty in a Patient with Achondroplasia, Osteoarthritis, and Severe Coronal Instability

Arthroplasty Today, 2021
Genu varum in patients with achondroplasia is common and is often exacerbated by the associated generalized ligamentous laxity. Despite this, development of knee osteoarthritis is rare. There are only a few previously published case reports of total knee
Ryan Stancil, MD, MPH, Michael Goldberg, MD, Maryse Bouchard, MD, MSc, Adam Sassoon, MD, MS   +3 more
doaj   +1 more source

Diagnosis of Achondroplasia at Birth: A Case Report

Journal of Nepal Medical Association, 2020
Autosomal dominant mutations in fibroblast growth factor receptor 3 cause achondroplasia, the most common form of dwarfism in humans. Achondroplasia is a genetic disorder causing rhizomelic shortening of limbs. Head is often large with prominent forehead
Suzit Bhusal, Uttara Gautam, Rajan Phuyal, Robin Choudhary, Sunil Raja Manandhar, Aliska Niroula   +5 more
doaj   +1 more source

Optimising care and follow-up of adults with achondroplasia

Orphanet Journal of Rare Diseases, 2022
Background Achondroplasia is a genetic condition that can cause complications across the lifespan. While complications in childhood are well documented, the natural history of achondroplasia in adults has, until recently, been relatively lacking, and ...
Svein Fredwall, Yana Allum, Moeenaldeen AlSayed, Inês Alves, Tawfeg Ben-Omran, Silvio Boero, Valerie Cormier-Daire, Encarna Guillen-Navarro, Melita Irving, Christian Lampe, Mohamad Maghnie, Klaus Mohnike, Geert Mortier, Sérgio B. Sousa, Michael Wright   +14 more
doaj   +1 more source

Fibroblast growth factor receptor 3 activation plays a causative role in urothelial cancer pathogenesis in cooperation with Pten loss in mice [PDF]

, 2014
Although somatic mutations and overexpression of the tyrosine kinase fibroblast growth factor receptor 3 (FGFR3) are strongly associated with bladder cancer, evidence for their functional involvement in the pathogenesis remains elusive.
Ahmad, Ahmad, Ahmad, Askham, Billerey, Brooks, Calderaro, Castillo-Martin, Chesi, Cho, Duenas, Dupuy, Gavine, Goetz, Guagnano, Herr, Iwata, Iwata, Iwata, Jebar, Juanpere, Knowles, Kompier, Kong, Korkolopoulou, Laederich, Lamont, Lamy, Lesche, Lindgren, Logie, Lopez-Knowles, Mo, Novak, Platt, Puzio-Kuter, Qing, Rhijn, Ross, Shin, Sjodahl, Stenzl, Tomlinson, Tomlinson, Tsuruta, Yohn, Yoo, Zhang, Zieger   +48 more
core   +1 more source

Risk factors for obstructive sleep apnea syndrome in children: state of the art [PDF]

, 2019
The obstructive sleep apnea syndrome (OSAS) represents only part of a large group of pathologies of variable entity called respiratory sleep disorders (RSD) which include simple snoring and increased upper airway resistance syndrome (UARS).
Bellini, Chiara, Cammaroto, G., Colizza, A., de Vincentiis, M., De Vito, A., Firinu, E., Gobbi, R., Greco, A., Gulotta, G., Iannella, G., Magliulo, G., Meccariello, G., Pace, A., Pelucchi, S., Polimeni, A., Vicini, C., Visconti, I. C.   +16 more
core   +2 more sources