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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

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

3

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

4

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

5

Quel modèle de partenariat autour des registres ?

Ségolène Aymé

Journal:

La Presse Médicale

Year:

2010

Language:

french

File:

PDF, 53 KB

french, 2010

6

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

7

Reviewer acknowledgement 2013

Ségolène Aymé

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 111 KB

english, 2013

8

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

9

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

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

Reviewer acknowledgement 2014

Aymé, Ségolène

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 123 KB

english, 2014

13

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

14

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

15

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

16

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

17

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

18

Reviewer acknowledgement 2015

Aymé, Ségolène

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 306 KB

english, 2015

19

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

20

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

21

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

22

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

23

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

24

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

25

The International Federation of Human Genetics Societies: A nexus of communication among geneticists worldwide

Journal:

Year:

2000

Language:

english

File:

PDF, 65 KB

english, 2000

26

GENTIC: A computerized medical genetic case record system

Ségolène Aymé, Yvette Aurran, J. Gouvernet, J.-F. Mattei, F. Giraud, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1982

Language:

english

File:

PDF, 629 KB

english, 1982

27

HARD (± E) syndrome: Report of a sixth family with support for autosomal-recessive inheritance

Dr. Ségolène Aymé, Jean-François Mattei

Journal:

American Journal of Medical Genetics Part A

Year:

1983

Language:

english

File:

PDF, 329 KB

english, 1983

28

Previously apparently undescribed syndrome: Shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation

Jeanette C. Ramer, Angela E. Lin, William B. Dobyns, Robin Winter, Ségolène Aymé, Rosanna Pallotta, Roger L. Ladda

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 678 KB

english, 1995

29

Possible homozygous Waardenburg syndrome in a fetus with exencephaly

Dr. Ségolène Aymé, Nicole Philip

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 297 KB

english, 1995

30

Prevalences of polyarteritis nodosa, microscopic polyangiitis, Wegener's granulomatosis, and Churg-Strauss syndrome in a French urban multiethnic population in 2000: A capture–recapture estimate

Alfred Mahr, Loïc Guillevin, Marc Poissonnet, Ségolène Aymé

Journal:

Arthritis Care & Research

Year:

2004

Language:

english

File:

PDF, 119 KB

english, 2004

31

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

32

Reasons for women's non-uptake of amniocentesis

Dr. Claire Julian-Reynier, Geneviève Macquart-Moulin, Jean-Paul Moatti, Yvette Aurran, Françoise Chabal, Ségolène Aymé

Journal:

Prenatal Diagnosis

Year:

1994

Language:

english

File:

PDF, 449 KB

english, 1994

33

Abnormal childhood phenotypes associated with the same balanced chromosome rearrangements as in the parents

Ségolène Ayme, Marie-Geneviève Mattei, J. F. Mattei, F. Giraud

Journal:

Year:

1979

Language:

english

File:

PDF, 751 KB

english, 1979

34

Direct estimation of the non-disjunction rate at first meiotic division in the human male

Marie Guichaoua, Segolène Ayme, J. -M. Luciani

Journal:

Year:

1986

Language:

english

File:

PDF, 823 KB

english, 1986

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

Letter to human genetics journals

Journal:

Year:

1999

Language:

english

File:

PDF, 14 KB

english, 1999

37

Introduction

Matthijs, Gert, Aymé, Ségolène

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 40 KB

english, 2008

38

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

39

Response to 'Mutation (variation) databases and registries: a rationale for coordination of efforts': an IRDiRC perspective

Aymé, Ségolène, Terry, Sharon F., Groft, Stephen

Journal:

Nature Reviews Genetics

Year:

2011

Language:

english

File:

PDF, 90 KB

english, 2011

40

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

41

ESHG recommendations on key issues related to the advances in human genetics

Aymé, Ségolène

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 29 KB

english, 2003

42

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

43

Introduction

Aymé, Ségolène

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 25 KB

english, 2003

44

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

45

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

46

Genetic information and testing in insurance and employment: technical, social and ethical issues

Godard, Béatrice, Raeburn, Sandy, Pembrey, Marcus, Bobrow, Martin, Farndon, Peter, Aymé, Ségolène

Journal:

European Journal of Human Genetics

Year:

2003

Language:

english

File:

PDF, 200 KB

english, 2003

47

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

Soini, Sirpa, Ibarreta, Dolores, Anastasiadou, Violetta, Aymé, Ségolène, Braga, Suzanne, Cornel, Martina, Coviello, Domenico A, Evers-Kiebooms, Gerry, Geraedts, Joep, Gianaroli, Luca

Journal:

European Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 518 KB

english, 2006

48

Representation of rare diseases in health information systems: The orphanet approach to serve a wide range of end users

Ana Rath, Annie Olry, Ferdinand Dhombres, Maja Miličić Brandt, Bruno Urbero, Segolene Ayme

Journal:

Year:

2012

Language:

english

File:

PDF, 224 KB

english, 2012

49

Ontological phenotype standards for neurogenetics

Sebastian Köhler, Sandra C. Doelken, Ana Rath, Ségolène Aymé, Peter N. Robinson

Journal:

Year:

2012

Language:

english

File:

PDF, 390 KB

english, 2012

50

ERYTHROCYTE COPPER LEVELS IN CHILDREN WITH TRISOMY 21

B. MALLET, P. POULET, SEGOLENE AYME, MARIE-GENEVIEVE MATTEI, J. F. MATTEI, P. REBUFFEL

Journal:

Journal of Intellectual Disability Research

Year:

1979

Language:

english

File:

PDF, 303 KB

english, 1979

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