The human phenotype ontology in 2017

…, M Engelstad, E Foster, J McMurry, S Aymé… - Nucleic acids …, 2017 - academic.oup.com
Deep phenotyping has been defined as the precise and comprehensive analysis of
phenotypic abnormalities in which the individual components of the phenotype are observed …

[HTML][HTML] Data storage and DNA banking for biomedical research: informed consent, confidentiality, quality issues, ownership, return of benefits. A professional …

…, J Schmidtke, JJ Cassiman, S Aymé - European Journal of …, 2003 - nature.com
The purpose of this paper is to formulate a professional and scientific view on the social,
ethical, and legal issues that impact on data storage and DNA banking practices for …

[HTML][HTML] Population genetic screening programmes: principles, techniques, practices, and policies

…, L Ten Kate, G Evers-Kiebooms, S Aymé - European Journal of …, 2003 - nature.com
This paper examines the professional and scientific views on the principles, techniques,
practices, and policies that impact on the population genetic screening programmes in …

Prevalences of polyarteritis nodosa, microscopic polyangiitis, Wegener's granulomatosis, and Churg‐Strauss syndrome in a French urban multiethnic population in …

…, L Guillevin, M Poissonnet, S Aymé - Arthritis Care & …, 2004 - Wiley Online Library
Objective To estimate the prevalences of polyarteritis nodosa (PAN), microscopic
polyangiitis (MPA), Wegener's granulomatosis (WG), and Churg‐Strauss syndrome (CSS) …

Empowerment of patients: lessons from the rare diseases community

S Aymé, A Kole, S Groft - The lancet, 2008 - thelancet.com
Essay Focus www. thelancet. com Vol 371 June 14, 2008 2049 available treatments, and
the location of knowledgeable clinicians. Successful completion of this information is often …

229th ENMC international workshop: Limb girdle muscular dystrophies–Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017

V Straub, A Murphy, B Udd, A Corrado, S Aymé… - Neuromuscular …, 2018 - Elsevier
Historically, the classification and nomenclature of diseases has not been systematic and
diseases were either classified by cause, presenting symptoms and signs, pathological …

[HTML][HTML] The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues

S Soini, D Ibarreta, V Anastasiadou, S Aymé… - European Journal of …, 2006 - nature.com
The interface between assisted reproductive technologies (ART) and genetics comprises
several sensitive and important issues that affect infertile couples, families with severe …

Congenital malformations and maternal occupational exposure to glycol ethers

S Cordier, A Bergeret, J Goujard, MC Ha, S Aymé… - …, 1997 - journals.lww.com
Glycol ethers are found in a wide range of domestic and industrial products, many of which
are used in women's work environments. Motivated by concern about their potential …

[HTML][HTML] The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort

…, J Girschik, K Brameld, W Sun, A Rath, S Aymé… - Genetics in …, 2017 - nature.com
Purpose: It has been argued that rare diseases should be recognized as a public health
priority. However, there is a shortage of epidemiological data describing the true burden of …

[HTML][HTML] Rare diseases in ICD11: making rare diseases visible in health information systems through appropriate coding

S Aymé, B Bellet, A Rath - Orphanet Journal of Rare Diseases, 2015 - Springer
Background Because of their individual rarity, genetic diseases and other types of rare
diseases are under-represented in healthcare coding systems; this contributes to a lack of …