Results 51 to 60 of about 10,063 (203)

Advances in the treatment of achondroplasia

Journal of Education, Health and Sport
Achondroplasia is a condition resulting from a missense mutation in the FGFR3 (fibroblast growth factor receptor 3) gene, representing the predominant etiology of short height in humans.
Patrycja Jędrzejewska-Rzezak
doaj   +1 more source

Acute type A aortic dissection repair in an octogenarian with achondroplasia: a case report

Surgical Case Reports, 2018
Background Achondroplasia is an inherited disorder and the most common type of short-limbed dwarfism in human beings, affecting more than 250,000 individuals worldwide.
Shuji Moriyama, Masahiko Hara, Yasushi Kaneko   +2 more
doaj   +1 more source

Natriuretic peptide receptors regulate cytoprotective effects in a human ex vivo 3D/bioreactor model [PDF]

, 2013
© 2013 Peake et al.; licensee BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and ...
Achan, P, Bader, DL, Chowdhury, TT, Hobbs, AJ, Moyes, AJ, Peake, N, Ramachandran, M, Salter, DM, Su, N   +8 more
core   +3 more sources

Orthodontic and Maxillofacial Surgery Treatment in Achondroplasia for Orofacial Alterations: A Systematic Review and Preliminary Age‐Stratified Guidelines

Orthodontics &Craniofacial Research, EarlyView.
ABSTRACT This systematic review aimed to collect and appraise the clinical outcomes of all orthopaedic, orthodontic and surgical interventions in ACH patients. Following PROSPERO protocol, multiple database sources were searched to December 2024 with no language restrictions for (i) genetically confirmed ACH; (ii) any orthodontic/orthopaedic ...
Marco Farronato, Maria Francesca Bedeschi, Cristina Grippaudo, Gianluca Martino Tartaglia, Berardo Rinaldi, Cinzia Maspero   +5 more
wiley   +1 more source

Orofacial manifestations of achondroplasia [PDF]

, 2012
Achondroplasia (Online Mendelian Inheritance in Man [OMIM] 100800), is considered as a form of skeletal dysplasia dwarfism that manifests with stunted stature and disproportionate limb shortening.
Kaushik, Atul, Kumar, Munish, Rohilla, Smriti, Tanwar, Renu, Vinod, V.C.   +4 more
core  

Genetic architecture of body size in mammals [PDF]

, 2012
Much of the heritability for human stature is caused by mutations of small-to-medium effect.
Goddard, Michael E., Kemper, Kathryn E., Visscher, Peter M.   +2 more
core   +1 more source

Periodontal and orthodontic management of impacted canines

Periodontology 2000, EarlyView.
Abstract The maxillary and mandibular canines are described by many clinicians as the “cornerstone” of the arch. When in their optimal position, they play a critical role in providing a well‐balanced occlusal scheme that contributes toward functional as well as neuromuscular stability, harmony, esthetics, and dentofacial balance.
Mohammad Qali, Chenshuang Li, Chun‐Hsi Chung, Nipul Tanna   +3 more
wiley   +1 more source

Early postnatal soluble FGFR3 therapy prevents the atypical development of obesity in achondroplasia. [PDF]

PLoS ONE, 2018
Achondroplasia is a rare genetic disease is characterized by abnormal bone development and early obesity. While the bone aspect of the disease has been thoroughly studied, early obesity affecting approximately 50% of them during childhood has been ...
Celine Saint-Laurent, Stephanie Garcia, Vincent Sarrazy, Karine Dumas, Florence Authier, Sophie Sore, Albert Tran, Philippe Gual, Isabelle Gennero, Jean-Pierre Salles, Elvire Gouze   +10 more
doaj   +1 more source

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1372-1377, June 2026.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline, Jason Laufman, Kimberly Wallis, Michelle Merrill   +3 more
wiley   +1 more source

Reactive oxygen species in spermatozoa: methods for monitoring and significance for the origins of genetic disease and infertility [PDF]

, 2005
Human spermatozoa generate low levels of reactive oxygen species in order to stimulate key events, such as tyrosine phosphorylation, associated with sperm capacitation. However, if the generation of these potentially pernicious oxygen metabolites becomes
Aitken R John, Baker Mark A
core   +2 more sources