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segolene ayme
segolene ayme
Directrice de recherche émérite à l'INSERM
Verified email at inserm.fr
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Cited by
Year
The human phenotype ontology in 2017
S Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ...
Nucleic acids research 45 (D1), D865-D876, 2017
7912017
Prevalences of polyarteritis nodosa, microscopic polyangiitis, Wegener's granulomatosis, and Churg‐Strauss syndrome in a French urban multiethnic population in 2000: a capture …
A Mahr, L Guillevin, M Poissonnet, S Aymé
Arthritis Care & Research 51 (1), 92-99, 2004
6542004
Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users
A Rath, A Olry, F Dhombres, MM Brandt, B Urbero, S Ayme
Human mutation 33 (5), 803-808, 2012
3792012
Empowerment of patients: lessons from the rare diseases community
S Aymé, A Kole, S Groft
The lancet 371 (9629), 2048-2051, 2008
3012008
Prevalence of 22q11 microdeletion.
ST Du Montcel, H Mendizabai, S Ayme, A Levy, N Philip
Journal of Medical Genetics 33 (8), 719, 1996
2961996
Data storage and DNA banking for biomedical research: informed consent, confidentiality, quality issues, ownership, return of benefits. A professional perspective
B Godard, J Schmidtke, JJ Cassiman, S Aymé
European Journal of Human Genetics 11 (2), S88-S122, 2003
2572003
Tobacco and alcohol use during pregnancy and risk of oral clefts. Occupational Exposure and Congenital Malformation Working Group.
C Lorente, S Cordier, J Goujard, S Ayme, F Bianchi, E Calzolari, ...
American Journal of Public Health 90 (3), 415, 2000
2382000
The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues
S Soini, D Ibarreta, V Anastasiadou, S Aymé, S Braga, M Cornel, ...
European Journal of Human Genetics 14 (5), 588-645, 2006
2132006
Protocols to establish genotype-phenotype correlations in Down syndrome.
CJ Epstein, JR Korenberg, G Anneren, SE Antonarakis, S Ayme, ...
American journal of human genetics 49 (1), 207, 1991
2111991
X-autosome translocations: cytogenetic characteristics and their consequences
MG Mattei, JF Mattei, S Ayme, F Giraud
Human genetics 61, 295-309, 1982
1881982
Constitutional chromosomal breakage
F Giraud, S Ayme, JF Mattei, MG Mattei
Human Genetics 34 (2), 125-136, 1976
1851976
Congenital malformations and maternal occupational exposure to glycol ethers
S Cordier, A Bergeret, J Goujard, MC Ha, S Aymé, F Bianchi, E Calzolari, ...
Epidemiology 8 (4), 355-363, 1997
1781997
Population genetic screening programmes: principles, techniques, practices, and policies
B Godard, L Ten Kate, G Evers-Kiebooms, S Aymé
European Journal of Human Genetics 11 (2), S49-S87, 2003
1712003
Maternal occupational risk factors for oral clefts
C Lorente, S Cordier, A Bergeret, HEK De Walle, J Goujard, S Ayme, ...
Scandinavian journal of work, environment & health, 137-145, 2000
1632000
Prevalence of vernal keratoconjunctivitis: a rare disease?
D Bremond-Gignac, J Donadieu, A Leonardi, P Pouliquen, S Doan, ...
British journal of ophthalmology 92 (8), 1097-1102, 2008
1402008
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 10, 1-14, 2015
1302015
Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases
N Philip, P Meinecke, A David, J Dean, S Ayme, R Clark, ...
Clinical dysmorphology 1 (2), 63-78, 1992
1261992
Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy
S Sacconi, E Trevisson, L Salviati, S Aymé, O Rigal, AG Redondo, ...
Neuromuscular Disorders 20 (1), 44-48, 2010
1212010
Maternal-age effect in aneuploidy: does altered embryonic selection play a role?
S Ayme, A Lippman-Hand
American Journal of Human Genetics 34 (4), 558, 1982
1191982
Genetic information and testing in insurance and employment: technical, social and ethical issues
B Godard, S Raeburn, M Pembrey, M Bobrow, P Farndon, S Aymé
European Journal of Human Genetics 11 (2), S123-S142, 2003
1112003
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