PubMed

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

Bercot B, Kannengiesser C, Oudin C, Grandchamp B, Sanson-le Pors MJ, Mouly S, Elbim C.

J Clin Microbiol. 2009 Sep;47(9):3034-7. Epub 2009 Jul 29.PMID: 19641059 [PubMed - indexed for MEDLINE]Related articles

Not all DMT1 mutations lead to iron overload.

Blanco E, Kannengiesser C, Grandchamp B, Tasso M, Beaumont C.

Blood Cells Mol Dis. 2009 Sep-Oct;43(2):199-201. Epub 2009 Jun 24.PMID: 19553145 [PubMed - indexed for MEDLINE]Related articles

Absence of collagen-induced platelet activation caused by compound heterozygous GPVI mutations.

Dumont B, Lasne D, Rothschild C, Bouabdelli M, Ollivier V, Oudin C, Ajzenberg N, Grandchamp B, Jandrot-Perrus M.

Blood. 2009 Aug 27;114(9):1900-3. Epub 2009 Jun 23.PMID: 19549989 [PubMed - indexed for MEDLINE]Related articles

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

Di Lucca J, Guedj M, Lacapère JJ, Fargnoli MC, Bourillon A, Dieudé P, Dupin N, Wolkenstein P, Aegerter P, Saiag P, Descamps V, Lebbe C, Basset-Seguin N, Peris K, Grandchamp B, Soufir N.

Eur J Cancer. 2009 May 26. [Epub ahead of print]PMID: 19477635 [PubMed - as supplied by publisher]Related articles

New trends in the susceptibility to melanoma.

Soufir N, Grandchamp B, Basset-Seguin N.

Cancer Treat Res. 2009;146:213-23. No abstract available. PMID: 19415206 [PubMed - in process]Related articles

Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia.

Silvestri L, Guillem F, Pagani A, Nai A, Oudin C, Silva M, Toutain F, Kannengiesser C, Beaumont C, Camaschella C, Grandchamp B.

Blood. 2009 May 28;113(22):5605-8. Epub 2009 Apr 8.PMID: 19357398 [PubMed - indexed for MEDLINE]Related articles

Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.

Stheneur C, Collod-Béroud G, Faivre L, Buyck JF, Gouya L, Le Parc JM, Moura B, Muti C, Grandchamp B, Sultan G, Claustres M, Aegerter P, Chevallier B, Jondeau G, Boileau C.

Eur J Hum Genet. 2009 Sep;17(9):1121-8. Epub 2009 Mar 18.PMID: 19293843 [PubMed - in process]Related articles

A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload.

Kannengiesser C, Jouanolle AM, Hetet G, Mosser A, Muzeau F, Henry D, Bardou-Jacquet E, Mornet M, Brissot P, Deugnier Y, Grandchamp B, Beaumont C.

Haematologica. 2009 Mar;94(3):335-9. Epub 2009 Jan 27.PMID: 19176363 [PubMed - indexed for MEDLINE]Related articlesFree article

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

Maraschin Jde F, Kannengiesser C, Murussi N, Campagnolo N, Canani LH, Gross JL, Velho G, Grandchamp B, Silveiro SP.

Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1326-31.PMID: 19169489 [PubMed - indexed for MEDLINE]Related articlesFree article

NHERF1 mutations and responsiveness of renal parathyroid hormone.

Karim Z, Gérard B, Bakouh N, Alili R, Leroy C, Beck L, Silve C, Planelles G, Urena-Torres P, Grandchamp B, Friedlander G, Prié D.

N Engl J Med. 2008 Sep 11;359(11):1128-35.PMID: 18784102 [PubMed - indexed for MEDLINE]Related articlesFree article

C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload.

Whatley SD, Ducamp S, Gouya L, Grandchamp B, Beaumont C, Badminton MN, Elder GH, Holme SA, Anstey AV, Parker M, Corrigall AV, Meissner PN, Hift RJ, Marsden JT, Ma Y, Mieli-Vergani G, Deybach JC, Puy H.

Am J Hum Genet. 2008 Sep;83(3):408-14. Epub 2008 Sep 4.PMID: 18760763 [PubMed - indexed for MEDLINE]Related articlesFree article

Xeroderma pigmentosum group C in a French Caucasian patient with multiple melanoma and unusual long-term survival.

Jacobelli S, Soufir N, Lacapere JJ, Regnier S, Bourillon A, Grandchamp B, Hétet G, Pham D, Palangie A, Avril MF, Dupin N, Sarasin A, Gorin I.

Br J Dermatol. 2008 Sep;159(4):968-73. Epub 2008 Aug 20.PMID: 18717677 [PubMed - indexed for MEDLINE]Related articles

Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population.

Guedj M, Bourillon A, Combadières C, Rodero M, Dieudé P, Descamps V, Dupin N, Wolkenstein P, Aegerter P, Lebbe C, Basset-Seguin N, Prum B, Saiag P, Grandchamp B, Soufir N; MelanCohort Investigators.

Hum Mutat. 2008 Sep;29(9):1154-60.PMID: 18683857 [PubMed - indexed for MEDLINE]Related articles

Pegylated interferon-alfa-2a induces complete hematologic and molecular responses with low toxicity in polycythemia vera.

Kiladjian JJ, Cassinat B, Chevret S, Turlure P, Cambier N, Roussel M, Bellucci S, Grandchamp B, Chomienne C, Fenaux P.

Blood. 2008 Oct 15;112(8):3065-72. Epub 2008 Jul 23.PMID: 18650451 [PubMed - indexed for MEDLINE]Related articlesFree article

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

Guillem F, Lawson S, Kannengiesser C, Westerman M, Beaumont C, Grandchamp B.

Blood. 2008 Sep 1;112(5):2089-91. Epub 2008 Jul 2.PMID: 18596229 [PubMed - indexed for MEDLINE]Related articlesFree article

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

Mannstadt M, Bertrand G, Muresan M, Weryha G, Leheup B, Pulusani SR, Grandchamp B, Jüppner H, Silve C.

J Clin Endocrinol Metab. 2008 Sep;93(9):3568-76. Epub 2008 Jun 26.PMID: 18583467 [PubMed - indexed for MEDLINE]Related articlesFree article

PTHR1 mutations associated with Ollier disease result in receptor loss of function.

Couvineau A, Wouters V, Bertrand G, Rouyer C, Gérard B, Boon LM, Grandchamp B, Vikkula M, Silve C.

Hum Mol Genet. 2008 Sep 15;17(18):2766-75. Epub 2008 Jun 17.PMID: 18559376 [PubMed - indexed for MEDLINE]Related articlesFree article

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

Kannengiesser C, Gérard B, El Benna J, Henri D, Kroviarski Y, Chollet-Martin S, Gougerot-Pocidalo MA, Elbim C, Grandchamp B.

Hum Mutat. 2008 Jun 10;29(9):E132-E149. [Epub ahead of print]PMID: 18546332 [PubMed - as supplied by publisher]Related articles

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

Le Brun Keris Y, Jouk PS, Saada-Sebag G, Roux JJ, Mattei B, Bagait L, Paoloni-Giacobino A, Grandchamp B, Soufir N, Lespinasse J.

Eur J Med Genet. 2008 Sep-Oct;51(5):472-8. Epub 2008 May 2.PMID: 18539553 [PubMed - indexed for MEDLINE]Related articles

TLR9 activation induces normal neutrophil responses in a child with IRAK-4 deficiency: involvement of the direct PI3K pathway.

Hoarau C, Gérard B, Lescanne E, Henry D, François S, Lacapère JJ, El Benna J, Dang PM, Grandchamp B, Lebranchu Y, Gougerot-Pocidalo MA, Elbim C.

J Immunol. 2007 Oct 1;179(7):4754-65.PMID: 17878374 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

Aquaron R, Soufir N, Bergé-Lefranc JL, Badens C, Austerlitz F, Grandchamp B.

J Hum Genet. 2007;52(9):771-80. Epub 2007 Sep 1.PMID: 17767372 [PubMed - indexed for MEDLINE]Related articles

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).

Vari IS, Balkau B, Kettaneh A, André P, Tichet J, Fumeron F, Caces E, Marre M, Grandchamp B, Ducimetière P; DESIR Study Group.

Diabetes Care. 2007 Jul;30(7):1795-801. Epub 2007 Apr 6.PMID: 17416791 [PubMed - indexed for MEDLINE]Related articlesFree article

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

Gouya L, Muzeau F, Robreau AM, Letteron P, Couchi E, Lyoumi S, Deybach JC, Puy H, Fleming R, Demant P, Beaumont C, Grandchamp B.

Gastroenterology. 2007 Feb;132(2):679-86. Epub 2006 Nov 18.PMID: 17258727 [PubMed - indexed for MEDLINE]Related articles

A French CDK4-positive melanoma family with a co-inherited EDNRB mutation.

Soufir N, Ollivaud L, Bertrand G, Lacapère JJ, Descamps V, Vitoux D, Lebbe C, Wolkenstein P, Dupin N, Saiag P, Basset-Seguin N, Grandchamp B; MELAN-COHORT.

J Dermatol Sci. 2007 Apr;46(1):61-4. Epub 2007 Jan 12. No abstract available. PMID: 17223014 [PubMed - indexed for MEDLINE]Related articles

Melanoma susceptibility and progression: Association study between polymorphisms of the chemokine (CCL2) and chemokine receptors (CX3CR1, CCR5).

Rodero M, Rodero P, Descamps V, Lebbe C, Wolkenstein P, Aegerter P, Vitoux D, Basset-Seguin N, Dupin N, Grandchamp B, Soufir N, Combadière C, Saiag P; Melan-cohort investigators.

J Dermatol Sci. 2007 Apr;46(1):72-6. Epub 2006 Dec 13. No abstract available. PMID: 17169533 [PubMed - indexed for MEDLINE]Related articles

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

Chollet-Martin S, Lopez A, Gaud C, Henry D, Stos B, El Benna J, Chedevile G, Gendrel D, Gougerot-Pocidalo MA, Grandchamp B, Gérard B.

Eur J Pediatr. 2007 Feb;166(2):153-9. Epub 2006 Nov 3.PMID: 17089090 [PubMed - indexed for MEDLINE]Related articles

Ferritin and transferrin are both predictive of the onset of hyperglycemia in men and women over 3 years: the data from an epidemiological study on the Insulin Resistance Syndrome (DESIR) study.

Fumeron F, Péan F, Driss F, Balkau B, Tichet J, Marre M, Grandchamp B; Insulin Resistance Syndrome (DESIR) Study Group.

Diabetes Care. 2006 Sep;29(9):2090-4.PMID: 16936158 [PubMed - indexed for MEDLINE]Related articlesFree article

PTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: a French study.

Soufir N, Gerard B, Portela M, Brice A, Liboutet M, Saiag P, Descamps V, Kerob D, Wolkenstein P, Gorin I, Lebbe C, Dupin N, Crickx B, Basset-Seguin N, Grandchamp B.

Br J Cancer. 2006 Aug 21;95(4):548-53.PMID: 16909134 [PubMed - indexed for MEDLINE]Related articlesFree article

Mild dehydrated hereditary stomatocytosis revealed by marked hepatosiderosis.

Syfuss PY, Ciupea A, Brahimi S, Cynober T, Stewart GW, Grandchamp B, Beaumont C, Tchernia G, Delaunay J, Wagner JC.

Clin Lab Haematol. 2006 Aug;28(4):270-4.PMID: 16898969 [PubMed - indexed for MEDLINE]Related articlesFree article

MC1R and PTCH gene polymorphism in French patients with basal cell carcinomas.

Liboutet M, Portela M, Delestaing G, Vilmer C, Dupin N, Gorin I, Saiag P, Lebbé C, Kerob D, Dubertret L, Grandchamp B, Basset-Seguin N, Soufir N.

J Invest Dermatol. 2006 Jul;126(7):1510-7. Epub 2006 Apr 27.PMID: 16645598 [PubMed - indexed for MEDLINE]Related articlesFree article

The A148T variant of the CDKN2A gene is not associated with melanoma risk in the French and Italian populations.

Spica T, Portela M, Gérard B, Formicone F, Descamps V, Crickx B, Ollivaud L, Archimbaud A, Dupin N, Wolkenstein P, Vitoux D, Lebbe C, Saiag P, Basset-Seguin N, Fargnoli MC, Grandchamp B, Peris K, Soufir N; MELAN-COHORT.

J Invest Dermatol. 2006 Jul;126(7):1657-60. Epub 2006 Apr 13. No abstract available. PMID: 16614725 [PubMed - indexed for MEDLINE]Related articlesFree article

Essential thrombocythemias without V617F JAK2 mutation are clonal hematopoietic stem cell disorders.

Kiladjian JJ, Elkassar N, Cassinat B, Hetet G, Giraudier S, Balitrand N, Conejero C, Briere J, Fenaux P, Chomienne C, Grandchamp B.

Leukemia. 2006 Jun;20(6):1181-3. No abstract available. PMID: 16598303 [PubMed - indexed for MEDLINE]Related articles

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

Beaumont C, Delaunay J, Hetet G, Grandchamp B, de Montalembert M, Tchernia G.

Blood. 2006 May 15;107(10):4168-70. Epub 2006 Jan 26.PMID: 16439678 [PubMed - indexed for MEDLINE]Related articlesFree article

Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.

Gouya L, Martin-Schmitt C, Robreau AM, Austerlitz F, Da Silva V, Brun P, Simonin S, Lyoumi S, Grandchamp B, Beaumont C, Puy H, Deybach JC.

Am J Hum Genet. 2006 Jan;78(1):2-14. Epub 2005 Nov 15.PMID: 16385445 [PubMed - indexed for MEDLINE]Related articlesFree article

Association study of the g.8818A>G polymorphism of the human agouti gene with melanoma risk and pigmentary characteristics in a French population.

Meziani R, Descamps V, Gérard B, Matichard E, Bertrand G, Archimbaud A, Ollivaud L, Saiag P, Lebbé C, Basset-Seguin N, Alberti C, Crickx B, Grandchamp B, Soufir N.

J Dermatol Sci. 2005 Nov;40(2):133-6. Epub 2005 Sep 23. No abstract available. PMID: 16183259 [PubMed - indexed for MEDLINE]Related articles

Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria.

Schmitt C, Gouya L, Malonova E, Lamoril J, Camadro JM, Flamme M, Rose C, Lyoumi S, Da Silva V, Boileau C, Grandchamp B, Beaumont C, Deybach JC, Puy H.

Hum Mol Genet. 2005 Oct 15;14(20):3089-98. Epub 2005 Sep 13.PMID: 16159891 [PubMed - indexed for MEDLINE]Related articlesFree article

Association between endothelin receptor B nonsynonymous variants and melanoma risk.

Soufir N, Meziani R, Lacapère JJ, Bertrand G, Fumeron F, Bourillon A, Gérard B, Descamps V, Crickx B, Ollivaud L, Archimbaud A, Lebbe C, Basset-Seguin N, Saiag P, Grandchamp B; Investigators of the Melan-Cohort.

J Natl Cancer Inst. 2005 Sep 7;97(17):1297-301.PMID: 16145050 [PubMed - indexed for MEDLINE]Related articlesFree article

A physiological model to study iron recycling in macrophages.

Delaby C, Pilard N, Hetet G, Driss F, Grandchamp B, Beaumont C, Canonne-Hergaux F.

Exp Cell Res. 2005 Oct 15;310(1):43-53.PMID: 16095591 [PubMed - indexed for MEDLINE]Related articles

Sensitive allele-specific PCR assay able to detect FGFR3 mutations in tumors and urine from patients with urothelial cell carcinoma of the bladder.

Bakkar AA, Quach V, Le Borgne A, Toublanc M, Henin D, Wallerand H, Radvanyi F, Bittard H, Ravery V, Gibod LB, de Medina SG, Chopin DK, Grandchamp B.

Clin Chem. 2005 Aug;51(8):1555-7. No abstract available. PMID: 16040860 [PubMed - indexed for MEDLINE]Related articlesFree article

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

Ajzenberg N, Berroeta C, Philip I, Grandchamp B, Ducellier P, Huart V, Verpillat P, Guillin MC, Benessiano J.

Arterioscler Thromb Vasc Biol. 2005 Aug;25(8):1756-60. Epub 2005 Jun 9.PMID: 15947241 [PubMed - indexed for MEDLINE]Related articlesFree article

Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma.

Jannot AS, Meziani R, Bertrand G, Gérard B, Descamps V, Archimbaud A, Picard C, Ollivaud L, Basset-Seguin N, Kerob D, Lanternier G, Lebbe C, Saiag P, Crickx B, Clerget-Darpoux F, Grandchamp B, Soufir N, Melan-Cohort.

Eur J Hum Genet. 2005 Aug;13(8):913-20.PMID: 15889046 [PubMed - indexed for MEDLINE]Related articlesFree article

Effects of intravenous polymaltose iron on oxidant stress and non-transferrin-bound iron in hemodialysis patients.

Driss F, Vrtovsnik F, Katsahian S, Michel C, Baron G, Kolta A, Sedrati N, Mentré F, Mignon F, Cabantchik I, Grandchamp B.

Nephron Clin Pract. 2005;99(3):c63-7. Epub 2005 Jan 5.PMID: 15640610 [PubMed - indexed for MEDLINE]Related articles

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

Martin ME, Nicolas G, Hetet G, Vaulont S, Grandchamp B, Beaumont C.

FEBS Lett. 2004 Sep 10;574(1-3):187-91.PMID: 15358563 [PubMed - indexed for MEDLINE]Related articles

Melanocortin 1 receptor (MC1R) gene variants may increase the risk of melanoma in France independently of clinical risk factors and UV exposure.

Matichard E, Verpillat P, Meziani R, Gérard B, Descamps V, Legroux E, Burnouf M, Bertrand G, Bouscarat F, Archimbaud A, Picard C, Ollivaud L, Basset-Seguin N, Kerob D, Lanternier G, Lebbe C, Crickx B, Grandchamp B, Soufir N.

J Med Genet. 2004 Feb;41(2):e13. No abstract available. PMID: 14757863 [PubMed - indexed for MEDLINE]Related articlesFree article

Germline mutations of the INK4a-ARF gene in patients with suspected genetic predisposition to melanoma.

Soufir N, Lacapere JJ, Bertrand G, Matichard E, Meziani R, Mirebeau D, Descamps V, Gérard B, Archimbaud A, Ollivaud L, Bouscarat F, Baccard M, Lanternier G, Saïag P, Lebbé C, Basset-Seguin N, Crickx B, Cave H, Grandchamp B.

Br J Cancer. 2004 Jan 26;90(2):503-9.PMID: 14735200 [PubMed - indexed for MEDLINE]Related articlesFree article

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

Panhard X, Dominique S, Gaub MP, Ravery V, Grandchamp B, Mentré F.

Stat Med. 2003 Dec 30;22(24):3771-9.PMID: 14673937 [PubMed - indexed for MEDLINE]Related articles

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

Gouya L, Puy H, Robreau AM, Lyoumi S, Lamoril J, Da Silva V, Grandchamp B, Deybach JC.

Hum Genet. 2004 Feb;114(3):256-62. Epub 2003 Dec 11.PMID: 14669009 [PubMed - indexed for MEDLINE]Related articles

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

Grandchamp B.

Med Sci (Paris). 2003 Mar;19(3):273-4. French. No abstract available. PMID: 12836406 [PubMed - indexed for MEDLINE]Related articlesFree article

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

Hetet G, Devaux I, Soufir N, Grandchamp B, Beaumont C.

Blood. 2003 Sep 1;102(5):1904-10. Epub 2003 May 1.PMID: 12730114 [PubMed - indexed for MEDLINE]Related articlesFree article

[Polymorphism of aldose reductase gene and susceptibility to retinopathy and nephropathy in Caucasians with type 1 diabetes]

Fanelli A, Hadjadj S, Gallois Y, Fumeron F, Betoule D, Grandchamp B, Marre M.

Arch Mal Coeur Vaiss. 2002 Jul-Aug;95(7-8):701-8. French. PMID: 12365083 [PubMed - indexed for MEDLINE]Related articles