The human phenotype ontology in 2017
Deep phenotyping has been defined as the precise and comprehensive analysis of
phenotypic abnormalities in which the individual components of the phenotype are observed …
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 …
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 …
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) …
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 …
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
Historically, the classification and nomenclature of diseases has not been systematic and
diseases were either classified by cause, presenting symptoms and signs, pathological …
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 …
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 …
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 …
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
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 …
diseases are under-represented in healthcare coding systems; this contributes to a lack of …