Publications by authors named "Segolene Aymé"

48Publications

[Conclusions of the RARE 2017 meeting].

Med Sci (Paris) 2018 May 18;34 Hors série n°1:60. Epub 2018 Jun 18.

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http://dx.doi.org/10.1051/medsci/201834s131DOI Listing
May 2018

[State of play of French data collections in the field of rare diseases].

Authors:
Ségolène Aymé

Med Sci (Paris) 2018 May 18;34 Hors série n°1:22-25. Epub 2018 Jun 18.

Chargée de mission maladies rares, Institut du Cerveau et de la Moelle Épinière, Hôpital de la Pitié- Salpêtrière, 47, boulevard de l'Hôpital, 75013 Paris, France.

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https://www.medecinesciences.org/10.1051/medsci/201834s111
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http://dx.doi.org/10.1051/medsci/201834s111DOI Listing
May 2018

[The RARE 2017 meeting from a health professional perspective].

Authors:
Ségolène Aymé

Med Sci (Paris) 2018 May 18;34 Hors série n°1. Epub 2018 Jun 18.

Chargée de mission maladies rares, Institut du Cerveau et de la Moelle Épinière, Hôpital de la Pitié-Salpêtrière, 47, boulevard de l'hôpital, 75013 Paris, France.

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http://dx.doi.org/10.1051/medsci/201834s103DOI Listing
May 2018

The development of the public and professional policy committee.

Eur J Hum Genet 2017 12;25(s2):S29-S32

Clinical Genetics & Amsterdam Public Health Research Institute, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2017.160DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5763267PMC
December 2017

Reaching multidisciplinary consensus on classification of anaphylaxis for the eleventh revision of the World Health Organization's (WHO) International Classification of Diseases (ICD-11).

Orphanet J Rare Dis 2017 03 16;12(1):53. Epub 2017 Mar 16.

Division of Allergy, Department of Pulmonology, Hôpital Arnaud de Villeneuve, University Hospital of Montpellier, 371, av. du Doyen Gaston Giraud, 34295, Montpellier cedex 5, France.

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http://dx.doi.org/10.1186/s13023-017-0607-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5356259PMC
March 2017

IRDiRC-recommended.

Authors:
Ségolène Aymé

Eur J Hum Genet 2016 07;24(7):955

Orphanet/INSERM US14, Project leader of Support IRDiRC, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2015.236DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5070888PMC
July 2016

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

Authors:
Ségolène Aymé

Orphanet J Rare Dis 2016 05 28;11(1):71. Epub 2016 May 28.

INSERM, US14, 96 rue Didot, 75014, Paris, France.

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http://dx.doi.org/10.1186/s13023-016-0456-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4884417PMC
May 2016

[In Process Citation].

Authors:
Ségolène Aymé

Med Sci (Paris) 2016 Apr 2;32 Spec No 1:12-3. Epub 2016 May 2.

Inserm, US14, Paris, France.

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http://dx.doi.org/10.1051/medsci/201632s104DOI Listing
April 2016

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

Orphanet J Rare Dis 2015 Mar 26;10:35. Epub 2015 Mar 26.

INSERM, US14 - Orphanet, Paris, France, Rare Diseases Platform, 96 rue Didot, Paris, France.

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http://dx.doi.org/10.1186/s13023-015-0251-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4377208PMC
March 2015

Rare disease policies to improve care for patients in Europe.

Biochim Biophys Acta 2015 Oct 25;1852(10 Pt B):2329-35. Epub 2015 Feb 25.

INSERM, US14-Orphanet, France.

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http://dx.doi.org/10.1016/j.bbadis.2015.02.008DOI Listing
October 2015

Correction: Dispelling myths about rare disease registry system development.

Source Code Biol Med 2014 Jan 31;9(1). Epub 2014 Jan 31.

Centre for Comparative Genomics, Murdoch University, Perth 6150, Western Australia.

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http://dx.doi.org/10.1186/1751-0473-9-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3917533PMC
January 2014

Dispelling myths about rare disease registry system development.

Source Code Biol Med 2013 Oct 16;8(1):21. Epub 2013 Oct 16.

Centre for Comparative Genomics, Murdoch University, Perth 6150, Western Australia.

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http://dx.doi.org/10.1186/1751-0473-8-21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4015362PMC
October 2013

Rare diseases and now rare data?

Nat Rev Genet 2013 Jun;14(6):372

EURAC research, Center for Biomedicine, Bioethics, ELSI, Bolzano, Italy.

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http://dx.doi.org/10.1038/nrg3494DOI Listing
June 2013

Ontological phenotype standards for neurogenetics.

Hum Mutat 2012 Sep 2;33(9):1333-9. Epub 2012 Jul 2.

Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1002/humu.22112DOI Listing
September 2012

[Introduction and welcome message].

Presse Med 2012 May 6;41 Suppl 1:S1-2. Epub 2012 Apr 6.

Actelion Pharmaceuticals, comité scientifique de RARE 2011, 75001 Paris, France.

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http://dx.doi.org/10.1016/j.lpm.2012.02.022DOI Listing
May 2012

[Precompetitive tools and resources for leveraging R&D in Europe].

Authors:
Ségolène Ayme

Presse Med 2012 May 6;41 Suppl 1:S9-11. Epub 2012 Apr 6.

Inserm SC11, Orphanet, 75014 Paris, France.

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https://linkinghub.elsevier.com/retrieve/pii/S07554982120014
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http://dx.doi.org/10.1016/j.lpm.2012.02.027DOI Listing
May 2012

[Conclusions of RARE 2011 and prospects for RARE 2013].

Presse Med 2012 May 4;41 Suppl 1:S65-6. Epub 2012 Apr 4.

Inserm SC11, Orphanet, 75014 Paris, France.

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http://dx.doi.org/10.1016/j.lpm.2012.02.025DOI Listing
May 2012

Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users.

Hum Mutat 2012 May 6;33(5):803-8. Epub 2012 Apr 6.

Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 96 rue Didot,Paris, France.

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http://dx.doi.org/10.1002/humu.22078DOI Listing
May 2012

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

Orphanet J Rare Dis 2011 Apr 16;6:16. Epub 2011 Apr 16.

Department of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Center, Amsterdam, the Netherlands.

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http://ojrd.biomedcentral.com/articles/10.1186/1750-1172-6-1
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http://dx.doi.org/10.1186/1750-1172-6-16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3102605PMC
April 2011

CEMARA an information system for rare diseases.

Stud Health Technol Inform 2010 ;160(Pt 1):481-5

Paris Descartes University, Faculty of Medicine, AP-HP, EA 4067, Department of biostatistics and computer sciences, and Department of genetics, Dermatology unit Necker-Enfants Malades Hospital, Paris, France.

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December 2010

Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy.

Neuromuscul Disord 2010 Jan 27;20(1):44-8. Epub 2009 Nov 27.

Centre de référence des Maladies Neuromusculaires, Nice Hospital, CNRS, UMR 6543, Faculté de Médicine, Nice, France.

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http://dx.doi.org/10.1016/j.nmd.2009.10.014DOI Listing
January 2010

[Documentary research and self instruction. Rare diseases].

Rev Prat 2009 Sep;59(7):999-1003

Service de pneumologie, centre de référence des maladies pulmonaires rares, hôpital Louis-Pradel, 69677 Lyon-Bron Cedex.

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September 2009

The role of biobanking in rare diseases: European consensus expert group report.

Biopreserv Biobank 2009 Sep;7(3):155-6

1 Institute of Human Genetics, Newcastle University , Newcastle upon Tyne, United Kingdom .

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http://dx.doi.org/10.1089/bio.2010.7302DOI Listing
September 2009

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

Eur J Hum Genet 2008 May;16 Suppl 1:S10-50

Faculty of Law, University of Helsinki, Helsinki.

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May 2008

Empowerment of patients: lessons from the rare diseases community.

Lancet 2008 Jun;371(9629):2048-51

INSERM, Orphanet, Paris, France.

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http://dx.doi.org/10.1016/S0140-6736(08)60875-2DOI Listing
June 2008

Introduction.

Eur J Hum Genet 2008 May;16 Suppl 1:S1-2

Center for Human Genetics, University of Leuven, Herestraat 49, Leuven 3000, Belgium.

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http://www.nature.com/articles/ejhg200835
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http://dx.doi.org/10.1038/ejhg.2008.35DOI Listing
May 2008

CEMARA: a Web dynamic application within a N-tier architecture for rare diseases.

Stud Health Technol Inform 2008 ;136:51-6

Paris Descartes University, UPRESS EA 4067 and Service de Biostatistique et d'Informatique Médicale, APHP - Necker-Enfants Malades Hospital, Paris - France.

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September 2008

[Rare diseases: 67 reference centers for a cultural revolution?].

Authors:
Ségolène Aymé

Presse Med 2006 Mar;35(3 Pt 2):456-60

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http://dx.doi.org/10.1016/s0755-4982(06)74619-xDOI Listing
March 2006

[Documentary research and self-instruction. Critical reading of a medical article. Practice guidelines. Part 1: rare diseases].

Rev Prat 2004 Apr;54(7):777-9

Service de pneumologie, Centre des maladies orphelines pulmonaires, Hôpital Louis Pradel, 69394 Lyon Cedex.

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April 2004

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.

Arthritis Rheum 2004 Feb;51(1):92-9

INSERM SC11, Paris, and Hôpital Avicenne, Université Paris-Nord, Assistance Publique-Hôpitaux de Paris, Bobigny, France.

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http://dx.doi.org/10.1002/art.20077DOI Listing
February 2004

In focus. Has patient autonomy gone to far? Geneticists' views in 36 nations.

Am J Bioeth 2002 ;2(4):W21

University of Massachusetts, Shriver Division, USA.

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June 2003

[Orphanet, an information site on rare diseases].

Authors:
Ségolène Aymé

Soins 2003 Jan-Feb(672):46-7

Inserm SC 11, Hôpital Broussais, AP-HP, Paris.

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April 2003

Diffusion of information about genetic risk within families.

Neuromuscul Disord 1993 Sep-Nov;3(5-6):571-4

INSERM SC11, Faculté de Médecine, Paris, France.

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http://dx.doi.org/10.1016/0960-8966(93)90118-4DOI Listing
February 1996