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To characterize the natural history of 39 achondroplastic patients diagnosed by clinical, radiological and molecular assessments.
This article was published in the following journal.
Name: Clinics (Sao Paulo, Brazil)
Acanthosis nigricans (AN) in those with achondroplasia has been reported occasionally in the literature previously. Other disorders arising from constitutive activation of FGFR3 also manifest AN at va...
Achondroplasia is characterised by a shorter appendicular limb-to-torso ratio, compared to age matched individuals of average stature (controls). Previous work shows gait kinematics of individuals wit...
In this study, the authors aimed to describe orocraniofacial features and to suggest orthodontic-surgical managements in achondroplasia, based on a literature review. The authors focused on skeletal a...
Achondroplasia is an inherited disorder and the most common type of short-limbed dwarfism in human beings, affecting more than 250,000 individuals worldwide. To the best of our knowledge, no study has...
The aim of this study was to determine the prevalence and natural history of coronary ostial aneurysms in Marfan patients with aortic root replacement.
The purpose of this study is to create an electronic registry to house phenotypic information from patients with achondroplasia. The initial focus of this registry will be to include U.S. ...
The intent and design of this Phase 3 study is to assess BMN 111 as a therapeutic option for the treatment of children with Achondroplasia.
The intent and design of this Phase 3 study is to assess BMN 111 as a therapeutic option for the treatment of children with Achondroplasia
Since the gene responsible for achondroplasia was identified in 1994, it has become possible to test for achondroplasia prenatally. Moreover, prenatal genetic testing for achondroplasia i...
Observational study looking at the burden of illness in achondroplasia subjects aged 5-70. The study will include a 5 year review of historical clinical data as well as a single point coll...
A former branch of knowledge embracing the study, description, and classification of natural objects (as animals, plants, and minerals) and thus including the modern sciences of zoology, botany, and mineralogy insofar as they existed at that time. In the 17th, 18th, and 19th centuries it was much used for the generalized pursuit of certain areas of science. (Webster, 3d ed; from Dr. James H. Cassedy, NLM History of Medicine Division)
The study of literature in its widest sense, including grammar, etymology, criticism, literary history, language history, linguistic history, systems of writing, and anything else that is relevant to literature or language viewed as literature. Philology as a discipline has both philosophical and scientific overtones.
The period of history from the year 500 through 1450 of the common era.
The period of history before 500 of the common era.
The study of ancient Greek and Roman literature, including grammar, etymology, criticism, literary history, and language and linguistic history.