B. Grandchamp

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Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension

G. Matthijs, B. Gérard, N. Ginet, 2000, Human mutation.

Ferrochelatase structural mutant (Fechm1Pas) in the house mouse.

J. Deybach, B. Grandchamp, X. Montagutelli, 1993, Genomics.

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

J. Lacapère, B. Grandchamp, N. Dupin, 2008, The British journal of dermatology.

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

C. Beaumont, B. Grandchamp, V. Thurlow, 2012, Annals of clinical biochemistry.

Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract

C. Beaumont, J. Scoazec, D. Bonneau, 1995, Nature Genetics.

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

A. Brice, C. Lebbé, N. Basset-Seguin, 2006, British Journal of Cancer.

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

J. Deybach, L. Gouya, H. Puy, 2004, Human Genetics.

Recurrent molecular deletion of the 12p13 region, centromeric to ETV6/TEL, in T-cell prolymphocytic leukemia.

F. Sigaux, M. Stern, B. Grandchamp, 2000, The hematology journal : the official journal of the European Haematology Association.

Patient Data Meta-Analysis of 53 880 Subjects Mutations in the HFE Gene and Cardiovascular Disease Risk : An Individual

J. Boer, D. Grobbee, B. Nordestgaard, 2008 .

Inactive matriptase‐2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity

C. Beaumont, C. Oudin, B. Grandchamp, 2012, Human mutation.

Molecular analysis of uroporphyrinogen decarboxylase deficiency in a family with two cases of hepatoerythropoietic porphyria.

C. Beaumont, P. Romeo, B. Grandchamp, 1986, The Journal of clinical investigation.

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

S. Hadjadj, M. Marre, B. Grandchamp, 2002, Archives des maladies du coeur et des vaisseaux.

Sp alpha I/78: a mutation of the alpha I spectrin domain in a white kindred with HE and HPP phenotypes.

F. Galibert, B. Grandchamp, I. Devaux, 1989, Blood.

Delineation of a 6 cM commonly deleted region in childhood acute lymphoblastic leukemia on the 6q chromosomal arm

H. Cavé, B. Gérard, B. Grandchamp, 1997, Leukemia.

[Intra- and interfamilial phenotype variation in Birt-Hogg-Dubé syndrome: Consequences for therapy].

T. Frebourg, B. Grandchamp, B. Crestani, 2010, Annales de dermatologie et de venereologie.

Deletion of chromosomal region 13q14.3 in childhood acute lymphoblastic leukemia

H. Cavé, B. Grandchamp, F. Méchinaud, 2001, Leukemia.

Quantification of TEL–AML1 transcript for minimal residual disease assessment in childhood acute lymphoblastic leukaemia

I. Bièche, H. Cavé, B. Grandchamp, 2001, British journal of haematology.

Matrix metalloproteinase‐3 and intracranial arterial dolichoectasia

F. Cambien, P. Touboul, J. Michel, 2010, Annals of neurology.

NHERF1 mutations and responsiveness of renal parathyroid hormone.

B. Gérard, B. Grandchamp, Z. Karim, 2008, The New England journal of medicine.

Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresis

J. Deybach, B. Grandchamp, Y. Nordmann, 2004, Human Genetics.

Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria

A. Aguzzi, R. Lindberg, S. Brandner, 1996, Nature Genetics.

Rat porphobilinogen deaminase cDNA: nucleotide sequence of the erythropoietic form.

B. Grandchamp, C. Picat, A. C. Stubnicer, 1988, Nucleic acids research.

The mouse porphobilinogen deaminase gene. Structural organization, sequence, and transcriptional analysis.

C. Beaumont, B. Grandchamp, Y. Nordmann, 1989, The Journal of biological chemistry.

Localization of the CDKN4/p27Kip1 gene to human chromosome 12p12.3

D. Paslier, H. Cavé, B. Grandchamp, 1995, Human Genetics.

Loss of heterozygosity in the chromosomal region 12p12-13 is very common in childhood acute lymphoblastic leukemia and permits the precise localization of a tumor-suppressor gene distinct from p27KIP1.

J. Weissenbach, H. Cavé, B. Gérard, 1995, Blood.

Epistasis in iron metabolism: complex interactions between Cp, Mon1a, and Slc40a1 loci and tissue iron in mice

C. Beaumont, J. Deybach, L. Gouya, 2013, Mammalian Genome.

Detection and identification of mycobacteria by amplification of mycobacterial DNA

B. Grandchamp, B. Gicquel, A. Hance, 1989, Molecular microbiology.

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

S. Chevret, P. Fenaux, B. Grandchamp, 2008, Blood.

Clonality analysis of hematopoiesis in essential thrombocythemia: advantages of studying T lymphocytes and platelets.

B. Grandchamp, G. Hetet, J. Briére, 1997, Blood.

The −33T → C Polymorphism in Intron 7 of the TFPI Gene Influences the Risk of Venous Thromboembolism, Independently of the Factor V Leiden and Prothrombin Mutations

B. Grandchamp, M. Alhenc-Gelas, J. Emmerich, 2002, Thrombosis and Haemostasis.

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

C. Beaumont, J. Deybach, L. Gouya, 2007, Gastroenterology.

Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.

E. Denamur, A. Laquérriere, H. Le Nagard, 2010, Kidney international.

The MUC5B Variant Is Associated with Idiopathic Pulmonary Fibrosis but Not with Systemic Sclerosis Interstitial Lung Disease in the European Caucasian Population

D. Schwartz, S. Gazal, P. Dieudé, 2013, PloS one.

Overexpression of the ferritin H subunit in cultured erythroid cells changes the intracellular iron distribution.

M. Hentze, C. Beaumont, B. Grandchamp, 1996, Blood.

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

H. Cavé, C. Lebbé, N. Basset-Seguin, 2004, British Journal of Cancer.

Early-Onset Osteoarthritis, Charcot-Marie-Tooth Like Neuropathy, Autoimmune Features, Multiple Arterial Aneurysms and Dissections: An Unrecognized and Life Threatening Condition

G. Jondeau, P. Dieudé, J. Roume, 2014, PloS one.

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

G. Jondeau, M. Claustres, G. Collod-Béroud, 2009, European Journal of Human Genetics.

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

M. Vikkula, B. Gérard, B. Grandchamp, 2008, Human molecular genetics.

Molecular abnormalities of coproporphyrinogen oxidase in patients with hereditary coproporphyria

H. Puy, B. Grandchamp, J. Lamoril, 1995, Journal of bioenergetics and biomembranes.

A hemin-inducible enhancer lies 4.5 Kb upstream of the mouse ferritin H subunit gene.

C. Beaumont, A. Seyhan, B. Grandchamp, 1994, Advances in experimental medicine and biology.

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

C. Lebbé, N. Basset-Seguin, P. Wolkenstein, 2007, Journal of dermatological science.

The Diagnostic and Prognostic Performance of Urinary FGFR3 Mutation Analysis in Bladder Cancer Surveillance: A Prospective Multicenter Study.

O. Cussenot, F. Tubach, I. Ouzaid, 2015, Urology.

Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants

B. Grandchamp, K. Lassoued, S. Cunat, 2011, Haematologica.

Alternative transcription and splicing of the human porphobilinogen deaminase gene result either in tissue-specific or in housekeeping expression.

P. Romeo, B. Grandchamp, D. Beaupain, 1988, Proceedings of the National Academy of Sciences of the United States of America.

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

P. Fenaux, B. Grandchamp, G. Hetet, 2006, Leukemia.

Tyrosine Phosphorylation Regulates Alpha II Spectrin Cleavage by Calpain

J. Camonis, L. Malbert-Colas, B. Grandchamp, 2002, Molecular and Cellular Biology.

Novel Haptoglobin Insertion/Deletion Polymorphism Is Associated with the Lipid Profile and C-Reactive Protein (CRP) Concentration

B. Grandchamp, G. Hetet, J. Delanghe, 2002, Clinical chemistry and laboratory medicine.

HNF 1 α Mutations Are Present in Half of Clinically Defi ned MODY Patients in South-Brazilian Individuals

B. Grandchamp, G. Velho, J. Gross, 2008 .

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

C. Oudin, B. Grandchamp, C. Rothschild, 2009, Blood.

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

B. Grandchamp, C. Rothschild, M. Bouabdelli, 2009 .

Molecular genetics of porphyrias.

B. Grandchamp, H. de Verneuil, Y. Nordmann, 1990, Annals of medicine.

Identification of a new mutation responsible for hepatoerythropoietic porphyria

P. Romeo, S. Amselem, B. Grandchamp, 1991, European journal of clinical investigation.

Ferritin and Transferrin Are Associated With Metabolic Syndrome Abnormalities and Their Change Over Time in a General Population

B. Balkau, P. Ducimetiere, M. Marre, 2007, Diabetes Care.

Restricted diversity of V gamma 9-JP rearrangements in unstimulated human gamma/delta T lymphocytes.

B. Grandchamp, A. Hance, D. Lecossier, 1992, European journal of immunology.

Transcriptional regulation of ferritin H and L subunits in adult erythroid and liver cells from the mouse. Unambiguous identification of mouse ferritin subunits and in vitro formation of the ferritin shells.

C. Beaumont, B. Grandchamp, F. Renaudie, 1989, The Journal of biological chemistry.

Tissue-specific expression of porphobilinogen deaminase. Two isoenzymes from a single gene.

C. Beaumont, B. Grandchamp, O. Walter, 1987, European journal of biochemistry.

Presence of the French Canadian deletion in a French patient with familial hypercholesterolemia.

M. Krempf, B. Grandchamp, J. Fricker, 1992, The New England journal of medicine.

Clonality analysis of hematopoiesis and thrombopoietin levels in patients with essential thrombocythemia.

B. Grandchamp, G. Hetet, J. Briere, 1998, Leukemia & lymphoma.

Proto‐oncogene c‐mpl is involved in spontaneous megakaryocytopoiesis in myeloproliferative disorders

B. Grandchamp, C. Gardin, G. Hetet, 1996, British journal of haematology.

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

C. Beaumont, C. Oudin, B. Grandchamp, 2009, Blood.

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

C. Beaumont, B. Grandchamp, M. Westerman, 2008, Blood.

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

B. Prum, P. Dieudé, C. Lebbé, 2008, Human mutation.

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

C. Lebbé, N. Basset-Seguin, P. Verpillat, 2004, Journal of Medical Genetics.

Immunoassay for human serum hemojuvelin

C. Beaumont, A. Lavoinne, B. Grandchamp, 2010, Haematologica.

Mild dehydrated hereditary stomatocytosis revealed by marked hepatosiderosis.

C. Beaumont, B. Grandchamp, J. Wagner, 2006, Clinical and laboratory haematology.

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

C. Ged, C. Oudin, C. Férec, 2014, Human molecular genetics.

Severe iron deficiency anemia in transgenic mice expressing liver hepcidin

C. Beaumont, B. Grandchamp, S. Vaulont, 2002, Proceedings of the National Academy of Sciences of the United States of America.

A physiological model to study iron recycling in macrophages.

C. Beaumont, B. Grandchamp, G. Hetet, 2005, Experimental cell research.

Review: Molecular pathogenesis of hepatic acute porphyrias

J. Deybach, H. Puy, B. Grandchamp, 1996, Journal of gastroenterology and hepatology.

Systematic screening for fragile X syndrome in a cohort of 574 mentally retarded children.

B. Gérard, F. Da Silva, B. Grandchamp, 1997, Annales de genetique.

Idiopathic dilated cardiomyopathy: lack of association with haemochromatosis gene in the CARDIGENE study

L. Tiret, M. Komajda, M. Desnos, 2001 .

Genetic Analysis of Acute Intermittent Porphyria

P. Romeo, B. Grandchamp, Y. Nordmann, 1989 .

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

C. Beaumont, B. Grandchamp, M. Westerman, 2013 .

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

B. Grandchamp, H. Jüppner, G. Weryha, 2008, The Journal of clinical endocrinology and metabolism.

Not all DMT1 mutations lead to iron overload.

C. Beaumont, B. Grandchamp, C. Kannengiesser, 2009, Blood cells, molecules & diseases.

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

C. Beaumont, B. Grandchamp, G. Hetet, 2006, Blood.

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

C. Ged, B. Grandchamp, J. Rochette, 2012, Annales de biologie clinique.

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

P. Jouk, B. Grandchamp, A. Paoloni-Giacobino, 2008, European journal of medical genetics.

Is EPO therapy able to correct iron deficiency anaemia caused by matriptase‐2 deficiency?

G. Velasco, C. Beaumont, B. Grandchamp, 2011, British journal of haematology.

High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyria

J. Deybach, B. Grandchamp, Y. Nordmann, 1993, Human Genetics.

Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria

J. Deybach, B. Grandchamp, Y. Nordmann, 2004, Human Genetics.

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

B. Gérard, B. Grandchamp, J. El Benna, 2008, Human mutation.

Fluorometric detection of HIV-1 genome through use of an internal control, inosine-substituted primers, and microtiter plate format.

H. Cavé, B. Gérard, B. Grandchamp, 1996, Clinical Chemistry.

Spectrin St Claude, a splicing mutation of the human alpha-spectrin gene associated with severe poikilocytic anemia.

B. Grandchamp, P. Gallagher, G. Nicolas, 1997, Blood.

Cytotoxic T cell response against the chimeric ETV6-AML1 protein in childhood acute lymphoblastic leukemia.

F. Lemonnier, B. Grandchamp, M. Peuchmaur, 1998, The Journal of clinical investigation.

Cytotoxic T Cell Response against the Chimeric ETV 6-AML 1 Protein in Childhood Acute Lymphoblastic Leukemia

F. Lemonnier, B. Grandchamp, M. Peuchmaur, 1998 .

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

C. Lebbé, N. Basset-Seguin, B. Gérard, 2005, Journal of dermatological science.

A Large French Case-Control Study Emphasizes the Role of Rare Mc1R Variants in Melanoma Risk

S. Gazal, N. Dumaz, N. Basset-Seguin, 2014, BioMed research international.

Genetic variation at KIT locus may predispose to melanoma

S. Puig, N. Dumaz, N. Basset-Seguin, 2013, Pigment cell & melanoma research.

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

T. Jouary, N. Basset-Seguin, B. Grandchamp, 2011, Journal of dermatological science.

X-chromosome inactivation in healthy females: incidence of excessive lyonization with age and comparison of assays involving DNA methylation and transcript polymorphisms.

B. Grandchamp, G. Hetet, J. Briére, 1998, Clinical chemistry.

Quantitative determination of the hybrid Bcr‐Abl RNA in patients with chronic myelogenous leukaemia under interferon therapy

J. Tanzer, A. Kitzis, B. Grandchamp, 1992, British journal of haematology.

Detection of minimal residual disease in chronic myeloid leukemia patients after bone marrow transplantation by polymerase chain reaction.

P. Fenaux, B. Grandchamp, J. Laï, 1990, Leukemia.

Peg IFNα-2a in Polycythemia Vera (PV). Results of a Phase 2 Study by the French “PV-NORD” Group.

P. Fenaux, B. Grandchamp, C. Chomienne, 2006 .

Absent Collagen-Induced Platelet Activation in a Patient Double Heterozygous for Two GPVI Mutations

B. Grandchamp, C. Rothschild, M. Jandrot-Perrus, 2008 .

New trends in the susceptibility to melanoma.

N. Basset-Seguin, B. Grandchamp, N. Soufir, 2009, Cancer treatment and research.

The 12;21 translocation involving TEL and deletion of the other TEL allele: two frequently associated alterations found in childhood acute lymphoblastic leukemia.

P. Marynen, Caiying Guo, H. Cavé, 1996, Blood.

A low rate of loss of heterozygosity is found at many different loci in childhood B-lineage acute lymphocytic leukemia.

H. Cavé, B. Grandchamp, J. Elion, 1996, Leukemia.

Restricted diversity of Vγ9‐JP rearrangements in unstimulated human γ/δ T lymphocytes

B. Grandchamp, A. Hance, D. Lecossier, 1992 .

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

K. Peris, C. Lebbé, N. Basset-Seguin, 2006, The Journal of investigative dermatology.

Uroporphyrinogen decarboxylase structural mutant (Gly281----Glu) in a case of porphyria.

C. Beaumont, B. Grandchamp, H. de Verneuil, 1986, Science.

A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria.

C. Beaumont, F. D. de Rooij, J. Deybach, 1989, Nucleic acids research.

TLR9 Activation Induces Normal Neutrophil Responses in a Child with IRAK-4 Deficiency: Involvement of the Direct PI3K Pathway

B. Gérard, B. Grandchamp, J. El Benna, 2007, The Journal of Immunology.

A New Human NHERF1 Mutation Decreases Renal Phosphate Transporter NPT2a Expression by a PTH-Independent Mechanism

B. Grandchamp, D. Prié, C. Salaün, 2012, PloS one.

Effects of Intravenous Polymaltose Iron on Oxidant Stress and Non-Transferrin-Bound Iron in Hemodialysis Patients

B. Grandchamp, F. Vrtovsnik, S. Katsahian, 2005, Nephron Clinical Practice.

Two novel mutations in the EIF2AK3 gene in children with Wolcott–Rallison syndrome

C. Oudin, B. Grandchamp, G. Velho, 2011, Pediatric diabetes.

A second ferritin L subunit is encoded by an intronless gene in the mouse

C. Beaumont, B. Grandchamp, F. Renaudie, 2004, Mammalian Genome.

Tissue-specific splicing mutation in acute intermittent porphyria.

L. Sandkuyl, P. Romeo, B. Grandchamp, 1989, Proceedings of the National Academy of Sciences of the United States of America.

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

C. Lebbé, N. Basset-Seguin, P. Wolkenstein, 2007, Journal of dermatological science.

ETV6 is the target of chromosome 12p deletions in t(12;21) childhood acute lymphocytic leukemia

H. Cavé, C. Preudhomme, B. Grandchamp, 1997, Leukemia.

Coproporphyrinogen III oxidase assay.

B. Grandchamp, Y. Nordmann, 1982, Enzyme.

Chronic myeloid leukemia with unusual variant Ph translocation (22;22)(q11;q13). Two cases with chimeric BCR-ABL transcripts.

P. Fenaux, B. Grandchamp, J. Laï, 1990, Cancer genetics and cytogenetics.

Porphobilinogen deaminase is unstable in the absence of its substrate.

C. Beaumont, B. Grandchamp, H. de Verneuil, 1986, Biochimica et biophysica acta.

Effects of succinylacetone on dimethylsulfoxide-mediated induction of heme pathway enzymes in mouse friend virus-transformed erythroleukemia cells.

C. Beaumont, J. Deybach, B. Grandchamp, 1984, Experimental cell research.

Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria.

C. Beaumont, F. Moreau-Gaudry, J. Marie, 2014, American journal of human genetics.

Epistasis in iron metabolism: complex interactions between Cp, Mon1a, and Slc40a1 loci and tissue iron in mice

C. Beaumont, J. Deybach, L. Gouya, 2013, Mammalian Genome.

Characterization of hypersensitive sites, protein-binding motifs, and regulatory elements in both promoters of the mouse porphobilinogen deaminase gene.

M. Plumb, B. Grandchamp, H. de Verneuil, 1991, The Journal of biological chemistry.

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

H. Wallerand, D. Chopin, F. Radvanyi, 2005, Clinical chemistry.

A competitive PCR-based method using TCRD, TCRG and IGH rearrangements for rapid detection of patients with high levels of minimal residual disease in acute lymphoblastic leukemia

H. Cavé, B. Grandchamp, E. Vilmer, 2002, Leukemia.

Mouse ferritin H multigene family is polymorphic and contains a single multiallelic functional gene located on chromosome 19.

J. Guénet, C. Beaumont, B. Grandchamp, 1991, Genomics.

An efficient laboratory made apparatus for DNA amplification.

B. Grandchamp, O. Bertrand, I. Devaux, 1989, Journal of biochemical and biophysical methods.

Localization of the human coproporphyrinogen oxidase gene to chromosome band 3q12

F. Fougerousse, B. Grandchamp, G. Tachdjian, 1994, Human Genetics.

Analysis of ETV6 and ETV6‐AML1 proteins in acute lymphoblastic leukaemia

H. Cavé, B. Gérard, B. Grandchamp, 1997, British journal of haematology.

Human coproporphyrinogen oxidase. Biochemical characterization of recombinant normal and R231W mutated enzymes expressed in E. coli as soluble, catalytically active homodimers.

P. Labbé, J. L. Le Caer, B. Grandchamp, 1997, Cellular and molecular biology.

Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Günther's disease).

B. Grandchamp, H. de Verneuil, Y. Nordmann, 1990, Blood.

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

C. Lebbé, L. Dubertret, N. Basset-Seguin, 2006, The Journal of investigative dermatology.

Familial and sporadic porphyria cutanea: two different diseases..

B. Grandchamp, H. de Verneuil, Y. Nordmann, 1978, The International journal of biochemistry.

First Description of NOD2 Variant Associated with Defective Neutrophil Responses in a Woman with Granulomatous Mastitis Related to Corynebacteria

B. Berçot, C. Oudin, B. Grandchamp, 2009, Journal of Clinical Microbiology.

COPROPORPHYRINOGEN-OXIDASE DEFICIENCY IN HEREDITARY COPROPORPHYRIA

B. Grandchamp, Y. Nordmann, H. Verneuil, 1977, The Lancet.

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

B. Grandchamp, N. Soufir, F. Austerlitz, 2007, Journal of Human Genetics.

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

F. Clerget-Darpoux, C. Lebbé, N. Basset-Seguin, 2005, European Journal of Human Genetics.

HOMOZYGOUS CASE OF HEREDITARY COPROPORPHYRIA

B. Grandchamp, Y. Nordmann, Nhu Phung, 1977, The Lancet.

Decreased lymphocyte coproporphyrinogen III oxidase activity in hereditary coproporphyria.

B. Grandchamp, Y. Nordmann, Yves Nordmahn, 1977, Biochemical and biophysical research communications.

Some kinetic properties of human red cell uroporphyrinogen decarboxylase.

B. Grandchamp, H. de Verneuil, Y. Nordmann, 1980, Biochimica et biophysica acta.

The mitochondrial location of protoporphyrinogen oxidase.

B. Grandchamp, Y. Nordmann, J. Deybach, 1985, European journal of biochemistry.

Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria

P. Siersema, B. Grandchamp, Y. Nordmann, 1992, Human Genetics.

Prevalence of the 281 (Gly→Glu) mutation in hepatoerythropoietic porphyria and porphyria cutanea tarda

B. Grandchamp, G. Elder, Y. Nordmann, 2004, Human Genetics.

Studies of porphyrin synthesis in fibroblasts of patients with congenital erythropoietic porphyria and one patient with homozygous coproporphyria.

J. Deybach, B. Grandchamp, H. de Verneuil, 1980, Biochimica et biophysica acta.

Genetic heterogeneity of the porphobilinogen deaminase gene in Swedish families with acute intermittent porphyria

L. Lannfelt, B. Grandchamp, M. Anvret, 1991, Human Genetics.

Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.

J. Deybach, L. Gouya, H. Puy, 1997, American journal of human genetics.

Molecular analysis of acute intermittent porphyria in a Finnish family with normal erythrocyte porphobilinogen deaminase

L. Peltonen, P. Romeo, B. Grandchamp, 1989, European journal of clinical investigation.

DETECTION OF INTERMITTENT ACUTE PORPHYRIA TRAIT IN CHILDREN

B. Grandchamp, Y. Nordmann, H. Verneuil, 1976, The Lancet.

Harderoporphyria: a variant hereditary coproporphyria.

G. Fontaine, B. Grandchamp, H. de Verneuil, 1983, The Journal of clinical investigation.

The mitochondrial localization of coproporphyrinogen III oxidase.

B. Grandchamp, Y. Nordmann, N. Phung, 1978, The Biochemical journal.

Hereditary coproporphyria: demonstration of a genetic defect in coproporphyrinogen metabolism.

B. Grandchamp, Y. Nordmann, 1978, Monographs in human genetics.

Prenatal exclusion of congenital erythropoietic porphyria (Günther's disease) in a fetus at risk

B. Grandchamp, Y. Nordmann, P. D. Berranger, 1980, Human Genetics.

The spectrophotometric determination of uroporphyrinogen I synthetase activity.

B. Grandchamp, Y. Nordmann, N. Phung, 1976, Clinica chimica acta; international journal of clinical chemistry.

Conjugated effect of light and uroporphyrin on porphobilinogen.

B. Grandchamp, Y. Nordmann, 1976, Biochemical medicine.

A retrospective study of a patient with homozygous form of acute intermittent porphyria

J. Deybach, S. K. Wadman, B. Grandchamp, 1990, Journal of Inherited Metabolic Disease.

Association between genetic variation at the porphobilinogen deaminase gene and schizophrenia

P. Patel, W. E. Fann, R. Chakraborty, 1993, Schizophrenia Research.

DNA POLYMORPHISM OF HUMAN PORPHOBILINOGEN DEAMINASE GENE IN ACUTE INTERMITTENT PORPHYRIA

N. Kalsheker, P. Romeo, P. Harrison, 1987, The Lancet.

MC 1 R and PTCH Gene Polymorphism in French Patients with Basal Cell Carcinomas

C. Lebbé, L. Dubertret, N. Basset-Seguin, 2010 .

Potential antileukemic effect of gamma delta T cells in acute lymphoblastic leukemia.

P. Rohrlich, B. Grandchamp, L. Boumsell, 1995, Leukemia.

Identification of the mutations in the parents of a patient with a putative compound heterozygosity for acute intermittent porphyria

S. K. Wadman, B. Grandchamp, Y. Nordmann, 1990, Journal of Inherited Metabolic Disease.

High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria.

F. D. de Rooij, B. Grandchamp, Y. Nordmann, 1992, American journal of human genetics.

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

C. Beaumont, P. Brissot, B. Grandchamp, 2009, Haematologica.

Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter.

B. Gérard, B. Grandchamp, D. Prié, 2002, The New England journal of medicine.

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

Y. Agid, A. Bonnet, A. Dürr, 2002, Journal of Neurology.

Genes involved in the WNT and vesicular trafficking pathways are associated with melanoma predisposition

D. Schadendorf, G. Ribas, Rajiv Kumar, 2015, International journal of cancer.

Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation.

J. Deybach, L. Gouya, H. Puy, 1999, Blood.

[Cloning, characterization and expression of mouse ferritin L subunit gene].

C. Beaumont, B. Grandchamp, L. Boulanger, 1995, Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie.

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

C. Beaumont, J. Deybach, L. Gouya, 2006, American journal of human genetics.

Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations

H. Heimpel, C. Beaumont, S. Ducamp, 2011, Human mutation.

Early Embryonic Lethality of H Ferritin Gene Deletion in Mice*

C. Beaumont, B. Grandchamp, P. Arosio, 2000, The Journal of Biological Chemistry.

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

Mickael Guedj, Nicolas Dupin, Pierre Wolkenstein, 2009, European journal of cancer.

PARKIN Inactivation Links Parkinson's Disease to Melanoma.

L. Thomas, S. Klebe, R. Kumar, 2016, Journal of the National Cancer Institute.

Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice

C. Beaumont, B. Grandchamp, S. Vaulont, 2001, Proceedings of the National Academy of Sciences of the United States of America.

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

B. Grandchamp, G. Velho, J. Gross, 2008, Arquivos brasileiros de endocrinologia e metabologia.

A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia

B. Grandchamp, H. Dailey, J. Briere, 1995, Human Genetics.

Coinheritance of two α‐spectrin gene defects in a recessive spherocytosis family

B. Grandchamp, G. Hetet, T. Cynober, 2000 .

A 5′ splice region G → C mutation in exon 3 of the human β‐spectrin gene leads to decreased levels of β‐spectrin mRNA and is responsible for dominant hereditary spherocytosis (spectrin Guemene‐Penfao)

B. Grandchamp, J. Harousseau, I. Devaux, 1998, British journal of haematology.

Absence of microsatellite instability in transitional cell carcinoma of the bladder.

M. Toublanc, V. Ravery, B. Grandchamp, 2000, Urology.

Molecular analysis of nonrandom 8q12 deletions in acute lymphoblastic leukemia: Identification of two candidate genes

S. Duprat, H. Cavé, L. Cattolico, 2002, Genes, chromosomes & cancer.

High-resolution allelotype analysis of childhood B-lineage acute lymphoblastic leukemia

H. Cavé, B. Gérard, B. Grandchamp, 1998, Leukemia.

RHOXF2 gene, a new candidate gene for spermatogenesis failure

B. Grandchamp, F. Vialard, J. Selva, 2014, Basic and Clinical Andrology.

Clinical Significance of Minimal Residual Disease in Childhood Acute Lymphoblastic Leukemia

H. Cavé, B. Grandchamp, K. Thielemans, 1998 .

Study of the thrombopoietin receptor in essential thrombocythemia

B. Grandchamp, C. Gardin, G. Hetet, 1997, Leukemia.

Heterozygous RTEL1 mutations are associated with familial pulmonary fibrosis

P. Revy, S. Gazal, P. Nitschké, 2015, European Respiratory Journal.

Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele.

C. Beaumont, J. Deybach, L. Gouya, 1996, American journal of human genetics.

X‐linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA‐binding site mutations

M. Fleming, D. Swinkels, C. Niemeyer, 2014, American journal of hematology.

Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia

C. Beaumont, Érica Morán, B. Grandchamp, 2011, Haematologica.

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

Joanne, J. Marsden, G. Mieli-Vergani, 2008, American journal of human genetics.

Genomic organization of human JAK2 and mutation analysis of its JH2-domain in leukemia

P. Marynen, T. Voet, A. Aventín, 1999, Cytogenetic and Genome Research.

Prevalence and characteristics of TERT and TERC mutations in suspected genetic pulmonary fibrosis

P. Revy, B. Grandchamp, V. Cottin, 2016, European Respiratory Journal.

A novel type of congenital hypochromic anemia associated with a nonsense mutation in the STEAP3/TSAP6 gene.

H. Heimpel, C. Beaumont, C. Oudin, 2011, Blood.

Functional and Clinical Impact of Novel Tmprss6 Variants in Iron‐Refractory Iron‐Deficiency Anemia Patients and Genotype–Phenotype Studies

Mayka Sanchez, Achille Iolascon, Clara Camaschella, 2014, Human mutation.

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

C. Beaumont, B. Grandchamp, S. Vaulont, 2004, FEBS letters.

Characterization of 11 novel mutations in the X‐linked chronic granulomatous disease (CYBB gene)

B. Gérard, B. Grandchamp, J. El Benna, 2001, Human mutation.

Mouse ferritin H sequences map to chromosomes 3, 6, and 19.

M. Mattei, C. Beaumont, B. Grandchamp, 1991, Genomics.

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

J. Deybach, L. Gouya, H. Puy, 2002, Nature Genetics.

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.

C. Fallet-Bianco, S. Gazal, A. Laquérriere, 2012, American journal of human genetics.

A New ALAS2 Mutation Inducing a Male Lethal X-Linked Sideroblastic Anemia

C. Oudin, L. Gouya, B. Grandchamp, 2013 .

Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate‐deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping

B. Grandchamp, G. Durand, S. Vuillaumier‐Barrot, 1999, Human mutation.

Coinheritance of two alpha-spectrin gene defects in a recessive spherocytosis family.

B. Grandchamp, G. Hetet, T. Cynober, 2000, Clinical and laboratory haematology.

Clonal analysis of haemopoietic cells in essential thrombocythaemia

B. Grandchamp, G. Hetet, J. Briere, 1995, British journal of haematology.

TGFB2 loss of function mutations cause familial thoracic aortic aneurysms and acute aortic dissections associated with mild systemic features of the Marfan syndrome

Jay Shendure, Mathilde Varret, Catherine Boileau, 2012, Nature Genetics.

Functional Analysis of DNase-I Hypersensitive Sites at the Mouse Porphobilinogen Deaminase Gene Locus

C. Beaumont, B. Grandchamp, C. Porcher, 1995, The Journal of Biological Chemistry.

Enzymes of the heme biosynthesis pathway: recent advances in molecular genetics.

B. Grandchamp, Y. Nordmann, 1988, Seminars in hematology.

Ferritin and Transferrin Are Both Predictive of the Onset of Hyperglycemia in Men and Women Over 3 Years

B. Balkau, M. Marre, J. Tichet, 2006, Diabetes Care.

Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Günther's disease).

B. Grandchamp, H. de Verneuil, Y. Nordmann, 1991, Current problems in dermatology.

Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene.

J. Deybach, B. Grandchamp, H. de Verneuil, 1991, Biochemical and biophysical research communications.

Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the disease.

F. D. de Rooij, J. Deybach, B. Grandchamp, 1991, American journal of human genetics.

Formation and disposition of newly synthesized heme in adult rat hepatocytes in primary culture.

B. Grandchamp, D. Bissell, R. Schmid, 1981, The Journal of biological chemistry.

Truncating mutations of TP53AIP1 gene predispose to cutaneous melanoma

L. Thomas, S. Gazal, C. Lebbé, 2018, Genes, chromosomes & cancer.

Mutations in the HFE Gene and Cardiovascular Disease Risk: An Individual Patient Data Meta-Analysis of 53 880 Subjects

J. Boer, D. van der A, D. Grobbee, 2008, Circulation. Cardiovascular genetics.

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

C. Beaumont, J. Deybach, L. Gouya, 2005, Human molecular genetics.

Accumulation of porphobilinogen deaminase, uroporphyrinogen decarboxylase, and alpha- and beta-globin mRNAs during differentiation of mouse erythroleukemic cells. Effects of succinylacetone.

C. Beaumont, B. Grandchamp, H. de Verneuil, 1985, The Journal of biological chemistry.

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

C. Ged, J. Roume, B. Grandchamp, 2010, The Journal of investigative dermatology.

Quantitation of human erythroid-specific porphobilinogen deaminase mRNA by the polymerase chain reaction.

B. Grandchamp, N. Abraham, J. Lin, 1991, Experimental hematology.

Promoter hypermethylation of HS3ST2, SEPTIN9 and SLIT2 combined with FGFR3 mutations as a sensitive/specific urinary assay for diagnosis and surveillance in patients with low or high-risk non-muscle-invasive bladder cancer

O. Cussenot, F. Tubach, I. Ouzaid, 2016, BMC Cancer.

Mapping of chromosome 20 for loss of heterozygosity in childhood ALL reveals a 1000-kb deletion in one patient

H. Cavé, B. Grandchamp, M. Duval, 1999, Leukemia.

Association between endothelin receptor B nonsynonymous variants and melanoma risk.

C. Lebbé, N. Basset-Seguin, B. Gérard, 2005, Journal of the National Cancer Institute.

Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathies

B. Gilbert-Dussardier, M. Gonzalès, B. Grandchamp, 2011, Neuromuscular Disorders.

Interactions between ultraviolet light exposure and DNA repair gene polymorphisms may increase melanoma risk

P. Dieudé, C. Lebbé, N. Basset-Seguin, 2009, The British journal of dermatology.

Identification of a polymorphism in the coding region of the p27Kip1 gene.

H. Cavé, B. Grandchamp, I. Devaux, 1995, Annales de genetique.

Association studies between haemochromatosis gene mutations and the risk of cardiovascular diseases

D. Arveiler, C. Morrison, F. Cambien, 2001, European journal of clinical investigation.

Severe X-linked chronic granulomatous disease in two unrelated females

B. Gérard, B. Grandchamp, C. Gaud, 2007, European Journal of Pediatrics.

A simplified method for determination of specific DNA or RNA copy number using quantitative PCR and an automatic DNA sequencer.

B. Grandchamp, C. Porcher, C. Picat, 1992, BioTechniques.

Assignment of the gene for uroporphyrinogen decarboxylase to human chromosome 1 by somatic cell hybridization and specific enzyme immunoassay

M. Gross, D. Weil, B. Grandchamp, 2004, Human Genetics.

Assignment of the human gene for δ aminolevulinate dehydrase to chromosome 9 by somatic cell hybridization and specific enzyme immunoassay

M. Gross, V. C. N'guyen, D. Weil, 1984, Annals of human genetics.

MANGANESE deficiency.

E. Zackai, G. Reifenberger, T. Dierks, 2022, Journal of the American Veterinary Medical Association.

Denaturing gradient gel electrophoresis analysis for the detection of point mutations in the Chlamydia trachomatis major outer-membrane protein gene.

B. Grandchamp, J. Elion, E. Denamur, 1995, Journal of medical microbiology.

Microsatellite instability and frameshift mutations in BAX and transforming growth factor-beta RII genes are very uncommon in acute lymphoblastic leukemia in vivo but not in cell lines.

H. Cavé, B. Gérard, B. Grandchamp, 1998, Blood.

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

X. Panhard, V. Ravery, M. Gaub, 2003, Statistics in medicine.

EDNRB gene variants and melanoma risk in two southern European populations

F. Cambien, K. Peris, C. Lebbé, 2011, Clinical and experimental dermatology.

The red blood cell band 3 variant (band 3Biceêtrel:R490C) associated with dominant hereditary spherocytosis causes defective membrane targeting of the molecule and a dominant negative effect.

M. Bourgeois, B. Grandchamp, D. Dhermy, 1999, Molecular membrane biology.

Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria.

F. D. de Rooij, J. Deybach, B. Grandchamp, 1990, The Journal of clinical investigation.

Identification of four novel PMM2mutations in congenital disorders of glycosylation (CDG) Ia French patients

B. Grandchamp, V. Cormier-Daire, P. de Lonlay, 2000, Journal of medical genetics.

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

C. Beaumont, B. Grandchamp, N. Soufir, 2003, Blood.

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

L. Gouya, H. Puy, B. Grandchamp, 2002, Cellular and molecular biology.

Two novel mutations of the porphobilinogen deaminase gene in acute intermittent porphyria.

F. D. de Rooij, B. Grandchamp, W. Lissens, 1993, Human molecular genetics.

PCR detection of a C/T polymorphism in exon 1 of the porphobilinogen deaminase gene (PBGD).

B. Grandchamp, F. Bourgeois, C. Picat, 1991, Nucleic acids research.

PCR detection of a G/T polymorphism at exon 10 of the porphobilinogen deaminase gene (PBG-D).

B. Grandchamp, M. Delfau, X. Gu, 1991, Nucleic acids research.

Molecular cloning of a cDNA sequence complementary to porphobilinogen deaminase mRNA from rat.

P. Romeo, B. Grandchamp, Y. Nordmann, 1984, Proceedings of the National Academy of Sciences of the United States of America.

Denaturing gradient gel electrophoresis for rapid detection of latent carriers of a subtype of acute intermittent porphyria with normal erythrocyte porphobilinogen deaminase activity.

F. D. de Rooij, B. Grandchamp, Y. Nordmann, 1992, Clinical chemistry.

Neonatal hemolytic anemia due to inherited harderoporphyria: clinical characteristics and molecular basis.

J. Deybach, L. Gouya, H. Puy, 1998, Blood.

Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms.

B. Grandchamp, P. Martásek, Y. Nordmann, 1994, Human molecular genetics.

O. Cussenot, F. Tubach, I. Ouzaid, 2016, BMC Cancer.

Association of the −92C/G and 807C/T Polymorphisms of the α2 Subunit Gene With Human Platelets α2β1 Receptor Density

P. Verpillat, B. Grandchamp, J. Bénessiano, 2005 .

A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria.

B. Grandchamp, P. Martásek, V. Da Silva, 1995, Human molecular genetics.

Structure of the mouse H2A.X gene and physical linkage to the UPS locus on chromosome 9: assignment of the human H2A.X gene to 11q23 by sequence analysis.

B. Grandchamp, C. Porcher, 1995, Genomics.

Polymerase chain reaction detection of residual disease in chronic myeloid leukemia patients in complete cytogenetic remission under interferon with or without chemotherapy.

J. Tanzer, A. Kitzis, B. Grandchamp, 1992, Leukemia.

Analysis of JAK2 Mutation in Essential Thrombocythemia (ET) Patients with Monoclonal and Polyclonal X-Chromosome Inactivation Patterns (XCIPs).

P. Fenaux, B. Grandchamp, C. Gardin, 2005 .

A point mutation GA in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria

C. Beaumont, J. Deybach, P. Wilson, 2022 .

Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria.

J. Deybach, H. Puy, B. Grandchamp, 1996, Human molecular genetics.

Three novel mutations in the coproporphyrinogen oxidase gene

J. Deybach, H. Puy, B. Grandchamp, 1997, Human mutation.

Coproporphyrinogen oxidase: gene organization and description of a mutation leading to exon 6 skipping.

B. Grandchamp, P. Martásek, M. Delfau-Larue, 1994, Human molecular genetics.

Molecular cloning, sequencing, and functional expression of a cDNA encoding human coproporphyrinogen oxidase.

P. Labbé, B. Grandchamp, P. Martásek, 1994, Proceedings of the National Academy of Sciences of the United States of America.

Deletion mapping indicates that MTS1 is the target of frequent deletions at chromosome 9p21 in paediatric acute lymphoblastic leukaemias

H. Cavé, P. Rohrlich, B. Gérard, 1996, British journal of haematology.

Unexpected extradermatological findings in 31 patients with xeroderma pigmentosum type C

C. Bodemer, S. Mallet, B. Grandchamp, 2013, The British journal of dermatology.

Hereditary coproporphyria: demonstration of a genetic defect in coproporphyrinogen metabolism.

B. Grandchamp, Y. Nordmann, 1978, Monographs in human genetics.

Acute Intermittent Porphyria

B. Grandchamp, 1998, Seminars in liver disease.

Maternal uniparental disomy for chromosome 14.

E. Zackai, G. Reifenberger, T. Dierks, 1991, Journal of medical genetics.

Reliability of PCR directly from stool samples: usefulness of an internal standard.

H. Cavé, B. Grandchamp, J. Elion, 1994, BioTechniques.

Duodenal expression of NF‐E2 in mouse models of altered iron metabolism

C. Beaumont, B. Gérard, B. Grandchamp, 1995, British journal of haematology.

with HE and HPP phenotypes Sp alpha I/78: a mutation of the alpha I spectrin domain in a white kindred

F. Galibert, B. Grandchamp, I. Devaux, 2011 .

Mouse ferritin H subunit gene. Functional analysis of the promoter and identification of an upstream regulatory element active in erythroid cells.

C. Beaumont, A. Seyhan, B. Grandchamp, 1994, The Journal of biological chemistry.

Safety and efficacy of pirfenidone in patients with lung fibrosis and TERT mutation

B. Grandchamp, V. Cottin, E. Bergot, 2016 .

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

M. Vikkula, B. Gérard, B. Grandchamp, 2008, Human molecular genetics.

PARKIN Inactivation Links Parkinson's Disease to Melanoma.

L. Thomas, S. Klebe, R. Kumar, 2016, Journal of the National Cancer Institute.

Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.

E. Denamur, A. Laquérriere, M. Gonzalès, 2010, Kidney international.

Cell-free translation of human uroporphyrinogen decarboxylase mRNAs.

P. Romeo, B. Grandchamp, H. de Verneuil, 1984, Biochemical and Biophysical Research Communications - BBRC.

Matrix metalloproteinase‐3 and intracranial arterial dolichoectasia

F. Cambien, P. Touboul, J. Michel, 2009, Annals of neurology.

Clinical significance of minimal residual disease in childhood acute lymphoblastic leukemia. European Organization for Research and Treatment of Cancer--Childhood Leukemia Cooperative Group.

H. Cavé, B. Grandchamp, K. Thielemans, 1998, The New England journal of medicine.

Association between endothelin receptor B nonsynonymous variants and melanoma risk.

C. Lebbé, N. Basset-Seguin, B. Gérard, 2005, Journal of the National Cancer Institute.