Agnès Bourillon

Agnès Bourillon

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Agnès Bourillon

Agnès Bourillon

Publications by authors named "Agnès Bourillon"

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14Publications

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Transient neonatal renal failure and massive polyuria in MEGDEL syndrome.

Mol Genet Metab Rep 2016 Jun 10;7:8-10. Epub 2016 Mar 10.

Child Neurology, Hôpital Robert Debré, APHP, Paris, France; Reference Center for Inborn Errors of Metabolism, Robert Debré University Hospital, APHP, Paris, France; Inserm U1141 and Université Paris-Diderot, Sorbonne Paris Cité, site Robert Debré, Paris, France.

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http://dx.doi.org/10.1016/j.ymgmr.2016.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908062PMC
June 2016

A large French case-control study emphasizes the role of rare Mc1R variants in melanoma risk.

Biomed Res Int 2014 10;2014:925716. Epub 2014 Apr 10.

INSERM U976, Centre de Recherche sur la Peau, Hôpital Saint Louis, 1 Avenue Claude Vellefaux, 75010 Paris, France ; Laboratoire de Génétique, Hôpital Bichat Claude Bernard, APHP, IFR02, Université Paris 7, 46 rue Henri Hucahrd, 75018 Paris, France.

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http://dx.doi.org/10.1155/2014/925716DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4003837PMC
February 2015

Genetic variation at KIT locus may predispose to melanoma.

Pigment Cell Melanoma Res 2013 Jan 23;26(1):88-96. Epub 2012 Nov 23.

Département de Génétique, Hôpital Bichat-Claude Bernard, APHP, Paris, France.

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http://dx.doi.org/10.1111/pcmr.12032DOI Listing
January 2013

Assessment of tyrosinase variants and skin cancer risk in a large cohort of French subjects.

J Dermatol Sci 2011 Nov 22;64(2):127-33. Epub 2011 Aug 22.

Laboratoire de Biochimie Hormonale et Génétique, Hôpital Bichat Claude Bernard, APHP, IFR02, 75018, Paris, France.

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http://dx.doi.org/10.1016/j.jdermsci.2011.07.003DOI Listing
November 2011

A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa.

J Invest Dermatol 2010 Jun 7;130(6):1537-42. Epub 2010 Jan 7.

Laboratoire de Biochimie hormonale et génétique, Hôpital Bichat, APHP, Université Paris VII, 46 Rue Henri Huchard, Paris, France.

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http://dx.doi.org/10.1038/jid.2009.409DOI Listing
June 2010

Variants of the xeroderma pigmentosum variant gene (POLH) are associated with melanoma risk.

Eur J Cancer 2009 Dec 26;45(18):3228-36. Epub 2009 May 26.

Laboratoire de Biochimie Hormonale et Génétique, Hôpital Bichat-Claude Bernard, APHP, IFR02, Université Paris, Henri Huchard, 75018 Paris, France.

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http://dx.doi.org/10.1016/j.ejca.2009.04.034DOI Listing
December 2009

Association between endothelin receptor B nonsynonymous variants and melanoma risk.

J Natl Cancer Inst 2005 Sep;97(17):1297-301

Laboratoire de Biochimie Hormonale et Génétique, Hôpital Bichat-Claude Bernard, AP-HP, Faculté de Médecine, Paris VII, Paris, France.

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http://dx.doi.org/10.1093/jnci/dji253DOI Listing
September 2005

Rifampin-resistant RNA polymerase mutants of Chlamydia trachomatis remain susceptible to the ansamycin rifalazil.

Antimicrob Agents Chemother 2005 Mar;49(3):1120-6

Department of Internal Medicine, University of Washington, Seattle, Washington, USA.

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http://dx.doi.org/10.1128/AAC.49.3.1120-1126.2005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC549232PMC
March 2005