Nelly Burnichon

Nelly Burnichon

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Nelly Burnichon

Nelly Burnichon

Publications by authors named "Nelly Burnichon"

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A Full Phenotype of Paraganglioma Linked to a Germline SDHB Mosaic Mutation.

J Clin Endocrinol Metab 2019 Aug;104(8):3362-3366

Faculté de Médecine, Université de Lille, Lille Cedex, France.

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http://dx.doi.org/10.1210/jc.2019-00175DOI Listing
August 2019

Pheochromocytoma: When to search a germline defect?

Presse Med 2018 Jul - Aug;47(7-8 Pt 2):e109-e118. Epub 2018 Aug 9.

Inserm, UMR970, équipe 13, PARCC, 56, rue Leblanc, 75015 Paris, France; Équipe labellisée ligue contre le cancer, 14, rue Corvisart, 75013 Paris, France; Université Paris Descartes, Sorbonne Paris Cité, faculté de médecine, 12, rue de l'École de Médecine, 75006 Paris, France; Assistance publique-Hôpitaux de Paris, hôpital européen Georges Pompidou, service de génétique, 20-40, rue Leblanc, 75015 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.lpm.2018.07.003DOI Listing
September 2018

Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas.

Nat Rev Endocrinol 2017 04 18;13(4):233-247. Epub 2016 Nov 18.

Division of Hematology and Medical Oncology, Department of Medicine, Cancer Therapy and Research Center, University of Texas Health Science Center at San Antonio (UTHSCSA), 7703 Floyd Curl Drive, MC7880, San Antonio, Texas 78229, USA.

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http://dx.doi.org/10.1038/nrendo.2016.185DOI Listing
April 2017

Pheochromocytomas are diagnosed incidentally and at older age in neurofibromatosis type 1.

Clin Endocrinol (Oxf) 2017 Mar 5;86(3):332-339. Epub 2016 Dec 5.

Division of Endocrinology, Department of Medicine, Centre de Recherche du Centre hospitalier de l'Université de Montréal, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1111/cen.13265DOI Listing
March 2017

Successful response to pegylated interferon alpha in a patient with recurrent paraganglioma.

Endocr Relat Cancer 2017 02 28;24(2):L7-L11. Epub 2016 Nov 28.

Service d'Endocrinologie et DiabétologieHôpitaux Universitaires de Strasbourg, Strasbourg, France.

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http://dx.doi.org/10.1530/ERC-16-0431DOI Listing
February 2017

The MITF, p.E318K Variant, as a Risk Factor for Pheochromocytoma and Paraganglioma.

J Clin Endocrinol Metab 2016 12 28;101(12):4764-4768. Epub 2016 Sep 28.

INSERM (L.J.C.-V., S.R.K., N.K., A.B., L.A., N.B.-N., J.F., A.-P.G.-R.), UMR970, Paris-Cardiovascular Research Center, F-75015, Paris, France; Université Paris Descartes (L.J.C.-V., S.R.K., N.B., A.B., L.A., N.B.-N., J.F., A.-P.G.-R.), PRES Sorbonne Paris Cité, Faculté de Médecine, F-75006 Paris, France; Service de Génétique, Hôpital Européen Georges Pompidou, Assistance Publique-Hôpitaux de Paris (N.B., C.S., A.-P.G.-R.), F-75015, Paris, France; Unité Hypertension artérielle (L.A.), Hôpital Européen Georges Pompidou, Assistance Publique-Hôpitaux de Paris, F-75015, Paris, France; Département de Cancérologie endocrinienne and Université Paris-Saclay (A.B., M.S.), Gustave Roussy, Villejuif, F-94805, France; Université Paris 13 (P.G.), Equipe de Recherche en Epidémiologie Nutritionnelle (EREN), Centre d'Epidémiologie et Statistiques Sorbonne Paris Cité, INSERM (U1153), Inra (U1125), Cnam, COMUE Sorbonne Paris Cité, Bobigny; INSERM (B.B.-d.P.), U1186, Université Paris-Sud, Université Paris-Saclay, Villejuif, F-94805, France; Département de Biopathologie (B.B.-d.P.), Gustave Roussy, Villejuif, F-94805, France; and Rare Adrenal Cancer Network COMETE (L.A., A.-P.G.-R.), F-75006, Paris, France.

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http://dx.doi.org/10.1210/jc.2016-2103DOI Listing
December 2016

A SDHC Founder Mutation Causes Paragangliomas (PGLs) in the French Canadians: New Insights on the SDHC-Related PGL.

J Clin Endocrinol Metab 2016 12 4;101(12):4710-4718. Epub 2016 Oct 4.

Divisions of Endocrinology (I.B., S.G.) and Genetics (I.B., N.D., M.-C.B.), Department of Medicine, and Department of Pathology (S.N.), Centre Hospitalier de l'Université de Montréal, Université de Montréal, Québec, Canada H2W 1T8; Assistance Publique-Hôpitaux de Paris (N.B., E.K., A.-P.G.-R.), Service de Génétique, Hôpital Européen Georges Pompidou, F-75015 Paris, France; Université Paris Descartes (N.B., E.K., G.-R.), Faculté de Médecine, Sorbonne Paris Cité, F-75006 Paris, France; and INSERM (N.B., E.K., G.-R.), Unité Mixte de Recherche 970, Centre de Recherche de l'Hôpital Européen Georges Pompidou, F-75015 Paris, France.

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http://dx.doi.org/10.1210/jc.2016-1665DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5155677PMC
December 2016

In Vivo Detection of Succinate by Magnetic Resonance Spectroscopy as a Hallmark of SDHx Mutations in Paraganglioma.

Clin Cancer Res 2016 Mar 21;22(5):1120-9. Epub 2015 Oct 21.

INSERM, UMR970, Paris Cardiovascular Research Center, Paris, France. Université Paris Descartes, Sorbonne Paris Cité, Faculté de Médecine, Paris, France. Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service de Radiologie, Paris, France.

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http://dx.doi.org/10.1158/1078-0432.CCR-15-1576DOI Listing
March 2016

Pheochromocytoma and paraganglioma: molecular testing and personalized medicine.

Curr Opin Oncol 2016 Jan;28(1):5-10

aINSERM, UMR970, Paris-Cardiovascular Research Center bFaculté de Médecine, Université Paris Descartes, Sorbonne Paris Cité cAssistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Department of Genetics, Paris, France.

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http://dx.doi.org/10.1097/CCO.0000000000000249DOI Listing
January 2016

Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas.

Nat Commun 2015 Jan 27;6:6044. Epub 2015 Jan 27.

1] INSERM, UMR970, Paris-Cardiovascular Research Center, F-75015 Paris, France [2] Université Paris Descartes, Sorbonne Paris Cité, Faculté de Médecine, F-75006 Paris, France [3] Department of Genetics, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, F-75015 Paris, France [4] Rare Adrenal Cancer Network COMETE, F-75006 Paris, France.

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http://dx.doi.org/10.1038/ncomms7044DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4354166PMC
January 2015

Unsuspected task for an old team: succinate, fumarate and other Krebs cycle acids in metabolic remodeling.

Biochim Biophys Acta 2014 Aug 31;1837(8):1330-7. Epub 2014 Mar 31.

Hôpital Robert Debré, INSERM, UMR1141, Paris 75019, France; U.F.R. de Médecine Université Paris Diderot, Paris 75019, France. Electronic address:

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http://dx.doi.org/10.1016/j.bbabio.2014.03.013DOI Listing
August 2014

Epithelial to mesenchymal transition is activated in metastatic pheochromocytomas and paragangliomas caused by SDHB gene mutations.

J Clin Endocrinol Metab 2012 Jun 4;97(6):E954-62. Epub 2012 Apr 4.

Centre de recherche cardiovasculaire de l'Hôpital Européen Georges Pompidou, 56 rue Leblanc 75015 Paris, France.

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http://dx.doi.org/10.1210/jc.2011-3437DOI Listing
June 2012

TMEM127 screening in a large cohort of patients with pheochromocytoma and/or paraganglioma.

J Clin Endocrinol Metab 2012 May 14;97(5):E805-9. Epub 2012 Mar 14.

Département de Génétique, Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, 75015 Paris, France.

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http://dx.doi.org/10.1210/jc.2011-3360DOI Listing
May 2012

MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma.

Clin Cancer Res 2012 May 27;18(10):2828-37. Epub 2012 Mar 27.

Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Paris, France.

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http://clincancerres.aacrjournals.org/content/18/10/2828.ful
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http://clincancerres.aacrjournals.org/cgi/doi/10.1158/1078-0
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http://dx.doi.org/10.1158/1078-0432.CCR-12-0160DOI Listing
May 2012

A novel TMEM127 mutation in a patient with familial bilateral pheochromocytoma.

Eur J Endocrinol 2011 Jan 5;164(1):141-5. Epub 2010 Oct 5.

Assistance Publique-Hôpitaux de Paris, Département de Génétique, Hôpital Européen Georges Pompidou, Service de Génétique, 20-40 rue Leblanc, F-75015 Paris, France.

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http://www.eje-online.org/content/164/1/141.full.pdf
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http://www.eje-online.org/cgi/doi/10.1530/EJE-10-0758
Publisher Site
http://dx.doi.org/10.1530/EJE-10-0758DOI Listing
January 2011

SDHA is a tumor suppressor gene causing paraganglioma.

Hum Mol Genet 2010 Aug 18;19(15):3011-20. Epub 2010 May 18.

Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service de Génétique, 20-40 rue Leblanc, F-75015 Paris, France.

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http://dx.doi.org/10.1093/hmg/ddq206DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2901140PMC
August 2010

Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas.

J Clin Endocrinol Metab 2010 Mar 13;95(3):1274-8. Epub 2009 Nov 13.

Department of Pathology, Josephine Nefkens Institute, Room Ae304, Erasmus MC, University Medical Center Rotterdam, P.O. Box 2040, 3000 CA Rotterdam, The Netherlands.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2009-2170DOI Listing
March 2010

Mutations associated with succinate dehydrogenase D-related malignant paragangliomas.

Clin Endocrinol (Oxf) 2008 Apr 31;68(4):561-6. Epub 2007 Oct 31.

Reproductive Biology and Adult Endocrinology Program, National Institutes of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-1109, USA.

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http://dx.doi.org/10.1111/j.1365-2265.2007.03086.xDOI Listing
April 2008

[Achievements of the COMETE program in the genetics of pheochromocytoma].

Bull Acad Natl Med 2008 Jan;192(1):105-15; discussion 115-6

Département de Génétique, Hôpital Européen Georges Pompidou, Paris.

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January 2008

Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas.

J Clin Endocrinol Metab 2007 Oct 24;92(10):3822-8. Epub 2007 Jul 24.

Hypertension Unit, Hôpital Européen Georges Pompidou, 20 rue Leblanc, 75908 Paris cedex 15, France.

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http://dx.doi.org/10.1210/jc.2007-0709DOI Listing
October 2007

A new alpha chain hemoglobin variant: Hb Al-Hammadi Riyadh [alpha75(EF4)Asp-->Val (alpha2)].

Hemoglobin 2006 ;30(2):155-64

Unité de Pathologie Moléculaire, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, Lyon, France.

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http://dx.doi.org/10.1080/03630260600642096DOI Listing
August 2006

A new G(gamma) chain variant: Hb F-Bron [gamma20(B2)val-->Ala].

Hemoglobin 2005 ;29(4):301-5

Unité de Pathologie Moléculaire, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, Lyon, France.

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http://dx.doi.org/10.1080/03630260500312725DOI Listing
February 2006