Stephane Pinson

Stephane Pinson

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Stephane Pinson

Stephane Pinson

Publications by authors named "Stephane Pinson"

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Interest of systematic screening of pheochromocytoma in patients with neurofibromatosis type 1.

Eur J Endocrinol 2016 Oct 22;175(4):335-44. Epub 2016 Jul 22.

Rhône-Alpes Auvergne Competence Center for the treatment of Neurofibromatosis type 1Léon Bérard Comprehensive Cancer Center, Lyon, France.

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http://dx.doi.org/10.1530/EJE-16-0233DOI Listing
October 2016

NF1 single and multi-exons copy number variations in neurofibromatosis type 1.

J Hum Genet 2015 Apr 29;60(4):221-4. Epub 2015 Jan 29.

1] EA7331, Université Paris Descartes, Sorbonne Paris Cité, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France [2] Service de Biochimie et de Génétique Moléculaire, Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://www.nature.com/articles/jhg20156
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http://dx.doi.org/10.1038/jhg.2015.6DOI Listing
April 2015

Familial adenomatous polyposis and pancreatic cancer.

Pancreas 2015 Apr;44(3):512-3

Department of Gastroenterology Lyon Sud Hospital Pierre Bénite, France Department of Gastroenterology Lyon Sud Hospital Pierre Bénite, France Department of Pathology Lyon Sud Hospital Pierre Bénite, France Department of Pathology Edouard Herriot Hospital Lyon, France Department of Genetic Edouard Herriot Hospital Lyon, France Department of Gastroenterology Edouard Herriot Hospital Lyon, France.

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http://dx.doi.org/10.1097/MPA.0000000000000295DOI Listing
April 2015

Genomic variations integrated database for MUTYH-associated adenomatous polyposis.

J Med Genet 2015 Jan 3;52(1):25-7. Epub 2014 Nov 3.

INSERM UMR_S910, Marseille, France Departments of medical Genetics and Gastroenterology, AP-HM La Timone, Marseille, France Gastroenterology Department, European Hospital, Marseille, France Oncology Department, Clairval Hospital, Marseille, France The first two authors contributed equally to this work.

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http://dx.doi.org/10.1136/jmedgenet-2014-102752DOI Listing
January 2015

The UMD-APC database, a model of nation-wide knowledge base: update with data from 3,581 variations.

Hum Mutat 2014 May 7;35(5):532-6. Epub 2014 Apr 7.

UMR_S910, INSERM, Marseille, France; AP-HM La Timone, Gastroenterology Department, Marseille, France.

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http://dx.doi.org/10.1002/humu.22539DOI Listing
May 2014

NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.

Hum Mutat 2013 Nov 26;34(11):1510-8. Epub 2013 Aug 26.

UMR745 INSERM, PRES Sorbonne Paris Cité, Université Paris Descartes, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France; IRD, UMR216, Mère et enfant face aux infections tropicales, Paris, France; PRES Sorbonne Paris Cité, Université Paris Descartes, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France.

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http://dx.doi.org/10.1002/humu.22392DOI Listing
November 2013

Nevus anemicus in neurofibromatosis type 1: a potential new diagnostic criterion.

J Am Acad Dermatol 2013 Nov 21;69(5):768-775. Epub 2013 Aug 21.

Center of Competence for Neurofibromatosis, CHU Montpellier, Montpellier, France; University of Montpellier 1, Department of Dermatology, Saint-Eloi Hospital, CHU de Montpellier, Montpellier, France; Center of Competence for Pediatric Genetic Skin Disorders, CHU Montpellier, Montpellier, France. Electronic address:

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http://dx.doi.org/10.1016/j.jaad.2013.06.039DOI Listing
November 2013

[Vasoactive intestinal polypeptide-secreting diffuse ganglioneuromatosis affecting the small intestine and the colon in an infant: an exceptional inaugural manifestation of NF1].

Ann Pathol 2012 Feb 27;32(1):58-64. Epub 2012 Jan 27.

Service d'anatomie pathologique et de neuropathologie, hôpital Timone-Adultes, Assistance publique-Hôpitaux de Marseille, 264, rue Saint-Pierre, 13005 Marseille, France.

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http://dx.doi.org/10.1016/j.annpat.2011.10.007DOI Listing
February 2012

Polymorphisms in RET and its coreceptors and ligands as genetic modifiers of multiple endocrine neoplasia type 2A.

Cancer Res 2006 Jan;66(2):1177-80

Strangeways Research Laboratory, Cancer Research UK Department of Oncology, University of Cambridge,Worts Causeway, Cambridge CB1 8RN, UK.

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http://cancerres.aacrjournals.org/lookup/doi/10.1158/0008-54
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http://dx.doi.org/10.1158/0008-5472.CAN-05-2995DOI Listing
January 2006

Neurofibromatosis 1-associated neuropathies: a reappraisal.

Brain 2004 Sep 2;127(Pt 9):1993-2009. Epub 2004 Aug 2.

Service de Neurologie, Hôpital d'Instruction des Armées Desgenettes, Lyon, France.

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http://dx.doi.org/10.1093/brain/awh234DOI Listing
September 2004