Ségolène Ayme: search on Z-Library

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1

Rare disease policies to improve care for patients in Europe

Rodwell, Charlotte, Aymé, Ségolène

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2015

Language:

english

File:

PDF, 679 KB

english, 2015

2

Duplication of 9q12-q33: A case report and implications for the dup(9q) syndrome

Heather J. Stalker, Ségolène Aymé, Daniele Delneste, Hélène Scarpelli, Michel Vekemans, Dr. Vazken M. Der Kaloustian

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 585 KB

english, 1993

3

How to code rare diseases with international terminologies?

Rath, Ana, Bellet, Bertrand, Olry, Annie, Gonthier, Catherine, Aymé, Ségolène

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 267 KB

english, 2014

4

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

Aymé, Ségolène, Bellet, Bertrand, Rath, Ana

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 876 KB

english, 2015

5

State of the art of rare disease activities in Europe: a EUCERD perspective

Ségolène Aymé

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 336 KB

english, 2012

6

Scope of centres of expertise for rare diseases in European countries where they exist

Charlotte Rodwell,Ségolène Aymé,Kate Bushby

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 82 KB

english, 2012

7

Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders

Carla EM Hollak, Johannes MFG Aerts, Ségolène Aymé, Jeremy Manuel

Journal:

Orphanet Journal of Rare Diseases

Year:

2011

Language:

english

File:

PDF, 270 KB

english, 2011

8

The European Union Committee of Experts on Rare Diseases: three productive years at the service of the rare disease community

Aymé, Ségolène, Rodwell, Charlotte

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 427 KB

english, 2014

9

Quel modèle de partenariat autour des registres ?

Ségolène Aymé

Journal:

La Presse Médicale

Year:

2010

Language:

french

File:

PDF, 53 KB

french, 2010

10

WHO International Classification of Diseases (ICD) Revision Process: incorporating rare diseases into the classification scheme: state of art

Ségolène Aymé, Ana Rath, Bertrand Bellet

Journal:

Orphanet Journal of Rare Diseases

Year:

2010

Language:

english

File:

PDF, 179 KB

english, 2010

11

The European Union Committee of Experts on Rare Diseases (EUCERD): a new committee to help the European Commission advance in the field of rare disease policy

Antoni Montserrat Moliner, Ségolène Aymé

Journal:

Orphanet Journal of Rare Diseases

Year:

2010

Language:

english

File:

PDF, 142 KB

english, 2010

12

Evolution of national and European policies in the field of rare diseases and their impact over the past five years

Rodwell, Charlotte, Aymé, Ségolène

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 607 KB

english, 2014

13

Orphanet Journal of Rare Diseases: Launch Editorial

Ségolène Aymé, Bruno Dallapiccola, Dian Donnai

Journal:

Orphanet Journal of Rare Diseases

Year:

2006

Language:

english

File:

PDF, 117 KB

english, 2006

14

Reviewer acknowledgement 2014

Aymé, Ségolène

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 123 KB

english, 2014

15

The Human Phenotype Ontology in 2017

Köhler, Sebastian, Vasilevsky, Nicole A., Engelstad, Mark, Foster, Erin, McMurry, Julie, Aymé, Ségolène, Baynam, Gareth, Bello, Susan M., Boerkoel, Cornelius F., Boycott, Kym M., Brudno, Michael, Busk

Journal:

Nucleic Acids Research

Year:

2017

Language:

english

File:

PDF, 841 KB

english, 2017

16

Reviewer acknowledgement 2013

Ségolène Aymé

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 111 KB

english, 2013

17

The importance of review articles in making the voice of rare diseases heard: OJRD’s 10th anniversary

Aymé, Ségolène

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 357 KB

english, 2016

18

Fatal anaphylaxis registries data support changes in the who anaphylaxis mortality coding rules

Tanno, Luciana Kase, Simons, F. Estelle R., Annesi-Maesano, Isabella, Calderon, Moises A., Aymé, Ségolène, Demoly, Pascal

Journal:

Orphanet Journal of Rare Diseases

Year:

2017

Language:

english

File:

PDF, 1.75 MB

english, 2017

19

Spondylocostal/spondylothoracic dysostosis: The clinical basis for prognosticating and genetic counseling

Dr. Ségolène Aymé, Marilyn Preus, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1986

Language:

english

File:

PDF, 550 KB

english, 1986

20

Classification of rare diseases: a worldwide effort to contribute to the International Classification of Diseases

Ana Rath, Ségolène Aymé, Bertrand Bellet

Journal:

Orphanet Journal of Rare Diseases

Year:

2010

Language:

english

File:

PDF, 177 KB

english, 2010

21

State of the art of services in Europe: where are the problems?

Ségolène Aymé

Journal:

Orphanet Journal of Rare Diseases

Year:

2010

Language:

english

File:

PDF, 177 KB

english, 2010

22

Reviewer acknowledgement 2015

Aymé, Ségolène

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 306 KB

english, 2015

23

Maladies rares: 67 centres de référence pour une révolution culturelle ?

Ségolène Aymé

Journal:

La Presse Médicale

Year:

2006

Language:

french

File:

PDF, 213 KB

french, 2006

24

ISOTRETINOIN DOSE AND TERATOGENICITY

Ayme, Ségolène, Julian, Claire, Gambarelli, Danielle, Mariotti, Bernard, Maurin, Nicole

Journal:

Year:

1988

Language:

english

File:

PDF, 173 KB

english, 1988

25

Adoption and fostering of babies with Down syndrome: a cohort of 593 cases

Annick-Camille Dumaret, Catherine de Vigan, Claire Julian-Reynier, Janine Goujard, Dominique Rosset, Ségolène Aymé

Journal:

Prenatal Diagnosis

Year:

1998

Language:

english

File:

PDF, 73 KB

english, 1998

26

Chinese amend policy on sterilisation for genetic reasons

Pembrey, Marcus, Aymé, Ségolène

Journal:

European Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 14 KB

english, 1999

27

Conclusion des rencontres RARE 2011 et perspectives pour RARE 2013

Ségolène Ayme, Nicolas Levy, Annick Schwebig, Jacquie Berthe

Journal:

La Presse Médicale

Year:

2012

Language:

french

File:

PDF, 63 KB

french, 2012

28

Apparently new syndrome of congenital cataracts, sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation

Aymé, Segolène, Philip, Nicole

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 81 KB

english, 1997

29

Formal analysis of dysmorphism: Objective methods of syndrome definition

Marilyn Preus, Ségolène Aymé

Journal:

Clinical Genetics

Year:

1983

Language:

english

File:

PDF, 1.28 MB

english, 1983

30

Les rencontres RARE 2017 vues du point de vue des professionnels de santé et de recherche

Aymé, Ségolène

Journal:

médecine/sciences

Year:

2018

Language:

french

File:

PDF, 545 KB

french, 2018

31

Introduction

Aymé, Ségolène

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 25 KB

english, 2003

32

Les outils et ressources précompétitifs pour accélérer la R&D en Europe

Ségolène Ayme

Journal:

La Presse Médicale

Year:

2012

Language:

french

File:

PDF, 78 KB

french, 2012

33

Congenital Malformations and Maternal Occupational Exposure to Glycol Ethers

Sylvaine Cordier, Alain Bergeret, Janine Goujard, Marie-Catherine Ha, Ségolène Aymé, Fabrizio Bianchi, Elisa Calzolari, Hermien E. K. De Walle, Robin Knill-Jones, Silvia Candela, Ian Dale, Brigitte Da

Journal:

Year:

1997

Language:

english

File:

PDF, 1.75 MB

english, 1997

34

The development of the public and professional policy committee

Aymé, Ségolène, Cornel, Martina C

Journal:

European Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 351 KB

english, 2017

35

Networking for rare diseases: a necessity for Europe

Ségolène Aymé, J. Schmidtke

Journal:

Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz

Year:

2007

Language:

english

File:

PDF, 508 KB

english, 2007

36

Introduction

Matthijs, Gert, Aymé, Ségolène

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 40 KB

english, 2008

37

Factors influencing genetic counseling attendance rate: A geographically based study

Julian, Claire, Tordo, Marie‐Claude, Macquart‐Moulin, Geneviève, Moatti, Jean‐Paul, Giraud, Francis, Aymé, Ségolène

Journal:

Biodemography and Social Biology

Year:

1989

Language:

english

File:

PDF, 574 KB

english, 1989

38

Attitudes of women of childbearing age towards prenatal diagnosis in Southeastern France

Dr Claire Julian-Reynier, Genevieve Macquart-Moulin, Jean-Paul Moatti, Anderson Loundou, Yvette Aurran, Françoise Chabal, Ségolene Aymé

Journal:

Prenatal Diagnosis

Year:

1993

Language:

english

File:

PDF, 934 KB

english, 1993

39

Patenting and licensing in genetic testing: ethical, legal and social issues

Soini, Sirpa, Aymé, Ségolène, Matthijs, Gert

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 449 KB

english, 2008

40

Provision of genetic services in Europe: current practices and issues

Godard, Béatrice, Kääriäinen, Helena, Kristoffersson, Ulf, Tranebjaerg, Lisbeth, Coviello, Domenico, Aymé, Ségolène

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 309 KB

english, 2003

41

État de la R&D dans les maladies rares, 10 ans après le règlement européen du médicament orphelin

Ségolène Aymé

Journal:

La Presse Médicale

Year:

2010

Language:

french

File:

PDF, 62 KB

french, 2010

42

Walker-Warburg Syndrome: A Report of 3 Cases

Denis, Danièle, Gambarellï, Danielle, Luciani, Agnès, Aymé, Segolène, Philip, Nicole, Saracco, Jacques-Blaise

Journal:

Ophthalmologica

Year:

1993

Language:

english

File:

PDF, 621 KB

english, 1993

43

Population genetic screening programmes: principles, techniques, practices, and policies

Godard, Béatrice, ten Kate, Leo, Evers-Kiebooms, Gerry, Aymé, Ségolène

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 346 KB

english, 2003

44

Congenital Malformations and Maternal Occupational Exposure to Glycol Ethers

Cordier, Sylvaine, Bergeret, Alain, Goujard, Janine, Ha, Marie-Catherine, Aymé, Ségolène, Bianchi, Fabrizio, Calzolari, Elisa, De Walle, Hermien E. K., Knill-Jones, Robin, Candela, Silvia, Dale, Ian,

Journal:

Year:

1997

Language:

english

File:

PDF, 439 KB

english, 1997

45

Où en est-on de la thérapeutique dans les maladies génétiques ?

Aymé, Ségolène

Journal:

Year:

2018

Language:

french

File:

PDF, 639 KB

french, 2018

46

Letter to human genetics journals

Journal:

Year:

1999

Language:

english

File:

PDF, 14 KB

english, 1999

47

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

Godard, Béatrice, Schmidtke, Jörg, Cassiman, Jean-Jacques, Aymé, Ségolène

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 310 KB

english, 2003

48

Dispelling myths about rare disease registry system development

Bellgard, Matthew, Beroud, Christophe, Parkinson, Kay, Harris, Tess, Ayme, Segolene, Baynam, Gareth, Weeramanthri, Tarun, Dawkins, Hugh, Hunter, Adam

Journal:

Source Code for Biology and Medicine

Year:

2013

Language:

english

File:

PDF, 323 KB

english, 2013

49

Maternal occupational exposure and congenital malformations

Sylvaine Cordier, Marie-Catherine Ha, Segolene Ayme and Janine Goujard

Journal:

Scandinavian Journal of Work Environment & Health

Year:

1992

Language:

english

File:

PDF, 856 KB

english, 1992

50

Diffusion of information about genetic risk within families

Ayme, Ségolène, Macquart-Moulin, Geneviève, Julian-Reynier, Claire, Chabal, Françoise, Giraud, Francis

Journal:

Neuromuscular Disorders

Year:

1993

Language:

english

File:

PDF, 273 KB

english, 1993

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