Bernard Grandchamp

Bernard Grandchamp

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Bernard Grandchamp

Publications by authors named "Bernard Grandchamp"

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Truncating mutations of TP53AIP1 gene predispose to cutaneous melanoma.

Genes Chromosomes Cancer 2018 Jun 21;57(6):294-303. Epub 2018 Feb 21.

INSERM U976, Centre de Recherche sur la Peau, Hôpital Saint Louis, 75010, Paris, France.

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http://dx.doi.org/10.1002/gcc.22528DOI Listing
June 2018

PARKIN Inactivation Links Parkinson's Disease to Melanoma.

J Natl Cancer Inst 2016 Mar 17;108(3). Epub 2015 Dec 17.

Affiliations of authors: INSERM, U976, Centre de Recherche sur la Peau, Hôpital Saint Louis , Paris , France (HHH, JA, SM, LM, VD, NBS, MB, AB, CL, ND, NS); AP-HP, Hôpital Bichat Claude Bernard, Département de Génétique , Paris , France (HHH, CK, AT, BG, NS); Université Paris Diderot, Sorbonne Paris Cité , UMRS976, Paris , France (HHH, CK, JA, LM, NBS, MB, AB, LD, AT, BG, ND, NS); Université Paris 6, INSERM UMRS975, Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière, Hôpital Pitié-Salpêtrière, AP-HP , Paris , France (SL, AB); INSERM, U940, Laboratoire de Pharmacologie, Hôpital Saint Louis Paris , France (SM); AP-HP, Hôpital Bichat Claude Bernard, Service de Dermatologie , Paris , France (VD); AP-HP, Hôpital Saint Louis, Service de Dermatologie , Paris , France (NBS, MB, CL, ND); INSERM, CRB3, Département de Pathologie, Hôpital Bichat, AP-HP , Paris , France (LD); AP-HP, Hôpital Ambroise Paré, Service de Dermatologie , Boulogne Billancourt , France (PS); CHU Grenoble, Service de Dermatologie , Grenoble , France (MTL); Gustave Roussy, Service de Génétique, Département de Biopathologie , Villejuif , France (BBdP); Division of Molecular Genetic Epidemiology, German Cancer Research Center, Im Neuenheimer Feld 580 , Heidelberg , Germany (RK); Department of Neurology, University Hospital of Würzburg , Würzburg , Germany (SK); Inserm UMR1037, Centre de Recherche en Cancérologie de Toulouse , Toulouse , France (NAA); Hôpital de l'Hôtel-Dieu, Service de Dermatologie , Lyon , France (LT); AP-HP, Groupe Pitié-Salpêtrière, Département de Génétique, Cytogénétique et Embryologie , Paris , France (AB).

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http://dx.doi.org/10.1093/jnci/djv340DOI Listing
March 2016

Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis.

Eur Respir J 2015 Aug 28;46(2):474-85. Epub 2015 May 28.

Université Paris Diderot, Sorbonne Paris Cité, Paris, France APHP, Hôpital Bichat, Service de Pneumologie A, DHU FIRE Centre de compétence des maladies pulmonaires rares, Paris, France.

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http://dx.doi.org/10.1183/09031936.00040115DOI Listing
August 2015

RHOXF2 gene, a new candidate gene for spermatogenesis failure.

Basic Clin Androl 2014 10;24. Epub 2014 Feb 10.

EA 2493, University of Versailles Saint-Quentin, Versailles, F-78035 France ; Department of Reproductive Biology, Cytogenetics, Gynecology and Obstetrics, Poissy Saint Germain Hospital, Poissy, F-78303 France.

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http://dx.doi.org/10.1186/2051-4190-24-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4349744PMC
March 2015

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

Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.

Hum Mol Genet 2014 Sep 8;23(17):4479-90. Epub 2014 Apr 8.

Laboratoire de Génétique Moléculaire et d'Histocompatibilité, Inserm U1078, Université de Brest, SFR SnInBioS, CHRU de Brest, Etablissement Français du Sang - Bretagne, Brest, France CHRU de Brest, Inserm CIC0502, Brest, France

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http://dx.doi.org/10.1093/hmg/ddu160DOI Listing
September 2014

Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria.

Am J Hum Genet 2014 Apr 27;94(4):611-7. Epub 2014 Mar 27.

Institut National de la Santé et de la Recherche Médicale, U1149, Centre de Recherches sur l'Inflammation, F-75018 Paris, France; Assistance Publique-Hôpitaux de Paris, Centre Français des Porphyries, Hôpital Louis Mourier, 178 Rue des Renouillers, F-92701 Colombes, France; Université de Versailles Saint Quentin en Yvelines, F-78035 Versailles, France; Assistance Publique-Hôpitaux de Paris, Laboratoire de Biochimie Hormonale et Génétique, Hôpital Ambroise Paré, F-92100 Boulogne Billancourt, France; Laboratory of Excellence GR-Ex, 75000 Paris, France.

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http://dx.doi.org/10.1016/j.ajhg.2014.02.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3980518PMC
April 2014

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

[Molecular diagnosis of HFE mutations in routine laboratories. Results of a survey from reference laboratories in France].

Ann Biol Clin (Paris) 2012 May-Jun;70(3):305-13

Laboratoire de génétique moléculaire, Centre de référence des surcharges en fer rares d'origine génétique, CHU Pontchaillou, Rennes.

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http://dx.doi.org/10.1684/abc.2012.0704DOI Listing
August 2012

Two novel mutations in the L ferritin coding sequence associated with benign hyperferritinaemia unmasked by glycosylated ferritin assay.

Ann Clin Biochem 2012 May 25;49(Pt 3):302-5. Epub 2012 Apr 25.

Department of Pathology, Princess Royal University Hospital, Farnborough, Orpington, Kent BR6 8ND, UK.

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http://dx.doi.org/10.1258/acb.2011.011229DOI Listing
May 2012

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

Immunoassay for human serum hemojuvelin.

Haematologica 2010 Dec 16;95(12):2031-7. Epub 2010 Aug 16.

Laboratoire de Biochimie Médicale, Hôpital Universitaire de Rouen, EA4309 Endothélium Microvasculaire et Lésions Cérébrales Néonatales, Université de Rouen, Rouen, France.

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http://dx.doi.org/10.3324/haematol.2010.022129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2995560PMC
December 2010

New trends in the susceptibility to melanoma.

Cancer Treat Res 2009 ;146:213-23

Department of Dermatology, Laboratoire de Biochimie Hormonale et Génétique, IFR02, Hopital Bichat-Claude Bernard, 46rue Henri Huchard, Paris, France.

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http://dx.doi.org/10.1007/978-0-387-78574-5_19DOI Listing
September 2010

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

Matrix metalloproteinase-3 and intracranial arterial dolichoectasia.

Ann Neurol 2010 Apr;67(4):508-15

Neurology Department, Versailles Hospital and Versailles Saint-Quentin-en-Yvelines University, Versailles, France.

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http://dx.doi.org/10.1002/ana.21922DOI Listing
April 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

Not all DMT1 mutations lead to iron overload.

Blood Cells Mol Dis 2009 Sep-Oct;43(2):199-201. Epub 2009 Jun 24.

Hospital General Universitario de Alicante, Spain.

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http://dx.doi.org/10.1016/j.bcmd.2009.05.003DOI Listing
October 2009

First description of NOD2 variant associated with defective neutrophil responses in a woman with granulomatous mastitis related to corynebacteria.

J Clin Microbiol 2009 Sep 29;47(9):3034-7. Epub 2009 Jul 29.

AP-HP, Université Paris 7-Denis Diderot, Centre Hospitalier Universitaire Lariboisière-Fernand Widal, Service de Bactériologie-Virologie, Paris 10, France.

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http://dx.doi.org/10.1128/JCM.00561-09DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2738115PMC
September 2009

Prenatal manifestation in a family affected by nevoid basal cell carcinoma syndrome.

Eur J Med Genet 2008 Sep-Oct;51(5):472-8. Epub 2008 May 2.

Department of Gynecology and Obstetrics, General Hospital, BP 1125, 73011 Chambery cedex, France.

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http://dx.doi.org/10.1016/j.ejmg.2008.04.002DOI Listing
November 2008

HNF1alpha mutations are present in half of clinically defined MODY patients in South-Brazilian individuals.

Arq Bras Endocrinol Metabol 2008 Nov;52(8):1326-31

Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.

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http://dx.doi.org/10.1590/s0004-27302008000800020DOI Listing
November 2008

Molecular epidemiology of chronic granulomatous disease in a series of 80 kindreds: identification of 31 novel mutations.

Hum Mutat 2008 Sep;29(9):E132-49

AP-HP, Hôpital Bichat-Claude Bernard, Service de Biochimie Hormonale et Génétique, 46 rue Henri Huchard, 75018 Paris, France.

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http://dx.doi.org/10.1002/humu.20820DOI Listing
September 2008

Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism.

J Clin Endocrinol Metab 2008 Sep 26;93(9):3568-76. Epub 2008 Jun 26.

Endocrine Unit, Massachusetts General Hospital, Thier 1051, 55 Fruit Street, Boston, Massachusetts 02114, USA.

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http://dx.doi.org/10.1210/jc.2007-2167DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2567849PMC
September 2008

Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency.

Blood 2008 Sep 2;112(5):2089-91. Epub 2008 Jul 2.

Assistance Publique des Hôpitaux de Paris (APHP), Laboratoire de Génétique et Biochimie Hormonale, Hôpital Bichat, Paris, France.

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http://www.bloodjournal.org/content/early/2008/07/02/blood-2
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http://www.bloodjournal.org/cgi/doi/10.1182/blood-2008-05-15
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http://dx.doi.org/10.1182/blood-2008-05-154740DOI Listing
September 2008

NHERF1 mutations and responsiveness of renal parathyroid hormone.

N Engl J Med 2008 Sep;359(11):1128-35

INSERM Unité 845, Université Paris Descartes, Faculté de Médecine, Paris, France.

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http://dx.doi.org/10.1056/NEJMoa0802836DOI Listing
September 2008

Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene.

J Hum Genet 2007 1;52(9):771-80. Epub 2007 Sep 1.

Laboratoire de Biochimie et Biologie Moléculaire, Faculté de Médecine, Université de la Méditerranée Aix-Marseille II, 27 Boulevard Jean Moulin, 13385 Marseille Cedex 5, France.

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http://dx.doi.org/10.1007/s10038-007-0181-yDOI Listing
November 2007

Ferritin and transferrin are associated with metabolic syndrome abnormalities and their change over time in a general population: Data from an Epidemiological Study on the Insulin Resistance Syndrome (DESIR).

Diabetes Care 2007 Jul 6;30(7):1795-801. Epub 2007 Apr 6.

Institut National de la Santé et de la Recherche Médicale, Unité 780-IFR69, Epidemiological and Biostatistical Research, Villejuif, France.

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http://dx.doi.org/10.2337/dc06-2312DOI Listing
July 2007

Severe X-linked chronic granulomatous disease in two unrelated females.

Eur J Pediatr 2007 Feb 3;166(2):153-9. Epub 2006 Nov 3.

Service d'Immunologie Biologique, Hôpital Bichat-Claude Bernard, AP-HP, 46 rue Henri Huchard, 75018 Paris, France.

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http://dx.doi.org/10.1007/s00431-006-0211-3DOI Listing
February 2007

Genetic study of variation in normal mouse iron homeostasis reveals ceruloplasmin as an HFE-hemochromatosis modifier gene.

Gastroenterology 2007 Feb 18;132(2):679-86. Epub 2006 Nov 18.

INSERM U773, Centre de Recherche Biomédicale Bichat Beaujon CRB3, Université Paris 7 Denis Diderot, site Bichat, Paris, France.

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http://dx.doi.org/10.1053/j.gastro.2006.11.024DOI Listing
February 2007

Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload.

Blood 2006 May 26;107(10):4168-70. Epub 2006 Jan 26.

INSERM U773, Centre de Recherche Biomédicale Bichat Beaujon CRB3, BP 416, 16 rue Henri Huchard, F-75018 Paris, France.

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http://dx.doi.org/10.1182/blood-2005-10-4269DOI Listing
May 2006

A physiological model to study iron recycling in macrophages.

Exp Cell Res 2005 Oct;310(1):43-53

Inserm U656, Fer et synthèse d'hème, Génétique, Physiologie et Pathologie, Faculté de Médecine Xavier Bichat, 16, rue Henri Huchard, 75018 Paris, France.

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http://dx.doi.org/10.1016/j.yexcr.2005.07.002DOI Listing
October 2005

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

Association of the -92C/G and 807C/T polymorphisms of the alpha2 subunit gene with human platelets alpha2beta1 receptor density.

Arterioscler Thromb Vasc Biol 2005 Aug 9;25(8):1756-60. Epub 2005 Jun 9.

Departments of Hematology, Hopital Bichat, Assistance Publique-Hopitaux de Paris, France.

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http://dx.doi.org/10.1161/01.ATV.0000173308.13054.4fDOI Listing
August 2005

Transferrin receptor 1 mRNA is downregulated in placenta of hepcidin transgenic embryos.

FEBS Lett 2004 Sep;574(1-3):187-91

INSERM U409, Faculté de Médecine X. Bichat, Institut Fédératif de Recherche 02, 16 rue Henri Huchard, 75018 Paris, France.

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http://dx.doi.org/10.1016/j.febslet.2004.08.010DOI Listing
September 2004

Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.

Hum Genet 2004 Feb 11;114(3):256-62. Epub 2003 Dec 11.

Centre Français des Porphyries, INSERM U 409, Faculté X Bichat, Hôpital Louis Mourier, 178 rue des Renouillers, 92701 Colombes Cedex, France.

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http://dx.doi.org/10.1007/s00439-003-1059-5DOI Listing
February 2004

Construction of a global score quantifying allelic imbalance among biallelic SIDP markers in bladder cancer.

Stat Med 2003 Dec;22(24):3771-9

Department of Epidemiology, Biostatistics and Clinical Research, University Hospital Bichat, Claude Bernard, Paris, France.

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http://doi.wiley.com/10.1002/sim.1679
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http://dx.doi.org/10.1002/sim.1679DOI Listing
December 2003

Molecular analyses of patients with hyperferritinemia and normal serum iron values reveal both L ferritin IRE and 3 new ferroportin (slc11A3) mutations.

Blood 2003 Sep 1;102(5):1904-10. Epub 2003 May 1.

INSERM U409, Faculte Xavier Bichat, 16 rue Henri Huchard, BP 416, 75870 Paris cedex 18, France.

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http://dx.doi.org/10.1182/blood-2003-02-0439DOI Listing
September 2003

[A general method for detecting genes that have been recently selected].

Med Sci (Paris) 2003 Mar;19(3):273-4

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http://dx.doi.org/10.1051/medsci/2003193273DOI Listing
March 2003

Association study between iron-related genes polymorphisms and Parkinson's disease.

J Neurol 2002 Jul;249(7):801-4

INSERM U409, association Claude Bernard, Faculté de Médecine Bichat, B. P. 416, 75 870 Paris cedex 18, Paris.

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http://dx.doi.org/10.1007/s00415-002-0704-6DOI Listing
July 2002

Severe iron deficiency anemia in transgenic mice expressing liver hepcidin.

Proc Natl Acad Sci U S A 2002 Apr;99(7):4596-601

Département de génétique, développement et Pathologie Moléculaire, Institut Cochin, Centre National de la Recherche Scientifique, et Université René Descartes, Faculté de Médecine Cochin-Port Royal, 75014 Paris, France.

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http://www.pnas.org/cgi/doi/10.1073/pnas.072632499
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http://dx.doi.org/10.1073/pnas.072632499DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC123693PMC
April 2002

Hemochromatosis (HFE) and transferrin receptor-1 (TFRC1) genes in sporadic porphyria cutanea tarda (sPCT).

Cell Mol Biol (Noisy-le-grand) 2002 Feb;48(1):33-41

Centre Français des Porphyries, INSERM U409, Service de Biochimie, Hĵpital Louis Mourier, Colombes, France.

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February 2002

The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH.

Nat Genet 2002 Jan 20;30(1):27-8. Epub 2001 Dec 20.

Centre Francais des Porphyries, INSERM U 409, Faculté X. Bichat, Hôpital Louis Mourier, 92701 Colombes Cedex, France.

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http://dx.doi.org/10.1038/ng809DOI Listing
January 2002