M. Delpech

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Characterization and Nucleotide Sequence of CARB-6, a New Carbenicillin-Hydrolyzing β-Lactamase from Vibrio cholerae

D. Choury, G. Aubert, M. Szajnert, 1999, Antimicrobial Agents and Chemotherapy.

A novel mutation (Arg→Leu in exon 18) in factor VIII gene responsible for moderate hemophilia A

M. Baudis, K. Nafa, J. Kaplan, 1992, Human mutation.

Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A.

C. Négrier, M. Delpech, J. Lavergne, 2002, Blood.

Fibrinogen A alpha chain mutation (Arg554 Leu) associated with hereditary renal amyloidosis in a French family.

D. Droz, M. Delpech, C. Billerey, 1998, Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.

Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever.

C. Dodé, M. Delpech, J. Feingold, 2006, Comptes rendus biologies.

The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome.

J. Piette, C. Dodé, M. Szajnert, 2002, Arthritis and rheumatism.

Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations

E. Chouery, A. Mégarbané, J. Loiselet, 2001, European Journal of Human Genetics.

Genetically determined recurrent fevers.

M. Delpech, G. Grateau, 2001, Current opinion in immunology.

Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever.

C. Cazeneuve, S. Amselem, C. Dodé, 2000, American journal of medical genetics.

Clinical versus genetic diagnosis of familial Mediterranean fever.

C. Cazeneuve, S. Amselem, C. Dodé, 2000, QJM : monthly journal of the Association of Physicians.

A novel missense mutation (C30S) in the gene encoding tumor necrosis factor receptor 1 linked to autosomal-dominant recurrent fever with localized myositis in a French family.

J. Piette, F. Picard, C. Dodé, 2000, Arthritis and rheumatism.

The Effects of Sodium Butyrate on Transcription Are Mediated through Activation of a Protein Phosphatase*

L. Cuisset, M. Delpech, P. Jaffray, 1997, The Journal of Biological Chemistry.

A new mutation (A546T) of the betaig-h3 gene responsible for a French lattice corneal dystrophy type IIIA.

M. Delpech, S. Valleix, S. Drunat, 2000, American journal of ophthalmology.

Immobilized pH gradients for isoelectric focusing: Interaction between histones and histone‐like proteins with the charged polyacrylamide matrix

D. Labie, P. Righetti, M. Delpech, 1983 .

Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome.

N. Ravet, L. Cuisset, M. Rolland, 2007, Rheumatology.

Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu)

M. Delpech, A. Vital, F. Camou, 2001, Neurology.

A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features

M. Delpech, A. Brézin, S. Valleix, 2011, Molecular vision.

Analysis of the Complete Coding Region of the CFTR Gene in Ten Algerian Cystic Fibrosis Families

J. Kaplan, M. Delpech, T. Bienvenu, 1999, Human Heredity.

Molecular Analysis of the Mevalonate Kinase Gene in a Cohort of Patients with the Hyper-IgD and Periodic Fever Syndrome: Its Application as a Diagnostic Tool

L. Cuisset, J. Drenth, J. V. D. van der Meer, 2001, Annals of Internal Medicine.

Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome

J. Meer, L. Cuisset, J. Drenth, 2001, European Journal of Human Genetics.

New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes.

D. Scott, L. Cuisset, J. Berthelot, 2002, American journal of human genetics.

Purification and comparison of liver microsomal flavin-containing monooxygenase from normal and streptozotocin-diabetic rats.

E. Rouer, M. Delpech, P. Rouet, 1988, Biochemical pharmacology.

De novo mutation in hemophilia A established by DNA haplotype analysis and precluding prenatal diagnosis

M. Baudis, J. Kaplan, M. Delpech, 1986, Human Genetics.

Truncating mutations in the carbohydrate sulfotransferase 6 gene (CHST6) result in macular corneal dystrophy.

J. Soria, M. Delpech, S. Valleix, 2003, Investigative ophthalmology & visual science.

Association of the R92Q TNFRSF1A mutation and extracranial deep vein thrombosis in patients with Behçet's disease.

J. Piette, Z. Amoura, C. Dodé, 2005, Arthritis and rheumatism.

Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene

N. Ravet, C. Dodé, M. Delpech, 2006, Annals of the rheumatic diseases.

Intrafamilial variable phenotypic expression of a CIAS1 mutation: from Muckle-Wells to chronic infantile neurological cutaneous and articular syndrome.

L. Cuisset, M. Delpech, G. Chalès, 2005, The Journal of rheumatology.

CARING FOR THE CRITICALLY ILL PATIENT Association of TNF2, a TNF-a Promoter Polymorphism, With Septic Shock Susceptibility and Mortality

J. Dhainaut, C. Delclaux, J. Mira, 1999 .

Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans.

M. Delpech, B. Delbosc, S. Valleix, 2006, American journal of human genetics.

Autosomal-dominant periodic fever with AA amyloidosis: Novel mutation in tumor necrosis factor receptor 1 gene Rapid Communication.

M. Jadoul, D. Abramowicz, Y. Pirson, 2001, Kidney international.

Hereditary renal amyloidosis caused by a new variant lysozyme W64R in a French family.

J. Piette, D. Droz, D. Canet, 2002, Kidney international.

Characterization, purification and cDNA cloning of a rat perchloric-acid-soluble 23-kDa protein present only in liver and kidney.

L. Cuisset, M. Delpech, B. Nedelec, 1993, European journal of biochemistry.

COMPLEMENT COMPONENT C4 DEFICIENCIES AND GENE ALTERATIONS IN PATIENTS WITH SYSTEMIC LUPUS ERYTHEMATOSUS

B. Weill, M. Delpech, B. Uring-Lambert, 1993, European journal of immunogenetics : official journal of the British Society for Histocompatibility and Immunogenetics.

Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a female

R. Favier, M. Delpech, J. Lavergne, 2000 .

Potential pitfall in Prader-Willi syndrome and Angelman syndrome molecular diagnosis.

G. Noseda, L. Cuisset, G. Ponsot, 1998, American journal of medical genetics.

A novel variant of transthyretin (Glu42Asp) associated with sporadic late-onset cardiac amyloidosis.

D. Droz, M. Delpech, O. Blétry, 1998, Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.

Upregulation of rat P23 (a member of the YjgF protein family) by fasting, glucose diet and fatty acid feeding

M. Delpech, B. Nedelec, B. Antoine, 2004, Cellular and Molecular Life Sciences CMLS.

Corning's "Ice-Water Cap" for Congestive Headaches

C. Delclaux, A. Cariou, M. Delpech, 2010 .

Rat liver nuclear protein kinases NI and NII. Purification, subunit composition, substrate specificity, possible levels of regulation.

M. Delpech, J. Kruh, F. Moisand, 1986, European journal of biochemistry.

A 25 000 dalton inhibitor of cAMP independent protein kinases present in rat liver HMG protein preparations.

M. Delpech, J. Kruh, F. Lévy-Favatier, 1985, Biochemical and biophysical research communications.

Histologic phenotype-genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI gene.

M. Delpech, S. Valleix, M. Savoldelli, 2001, Ophthalmology (Rochester, Minn.).

Separation of nuclear cAMP independent protein kinases NI and NII from their chromosomal protein substrates and enzyme inhibitors by the use of a casein-phosvitin-Sepharose column.

M. Delpech, J. Kruh, F. Lévy-Favatier, 1986, Analytical biochemistry.

Renal amyloidosis with a frame shift mutation in fibrinogen aalpha-chain gene producing a novel amyloid protein.

J. Liepnieks, M. Benson, D. Droz, 1997, Blood.

Factor VIII gene inversions in severe hemophilia A: results of an international consortium study.

F E Preston, P G Mori, S S Sommer, 1995, Blood.

Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a female.

R. Favier, M. Delpech, J. M. Costa, 2000, Blood.

Investigation of factor VIII:C gene restriction fragment length polymorphisms and search for deletions in hemophiliac subjects in Algeria

K. Nafa, J. Kaplan, M. Delpech, 1990, Human Genetics.

A candidate gene for familial Mediterranean fever

Jacques Demaille, Isabelle Touitou, Delphine Samson, 1997, Nature Genetics.

In vitro, non enzymatic labelling of histone H1 with [14C] acetyl CoA.

M. Delpech, J. Kruh, F. Lévy-Favatier, 1983, Biochimie.

Histone acetylation in rat liver nuclei.

M. Delpech, J. Kruh, F. Moisand, 1982, Biochemical and biophysical research communications.

VLITL is a major cross-β-sheet signal for fibrinogen Aα-chain frameshift variants.

N. Rioux-Leclercq, P. Derreumaux, M. Delpech, 2017, Blood.

D25V apolipoprotein C-III variant causes dominant hereditary systemic amyloidosis and confers cardiovascular protective lipoprotein profile

P. Talmud, A. Mangé, J. Christodoulou, 2016, Nature Communications.

Hereditary amyloid cardiomyopathy caused by a variant apolipoprotein A1.

J. Liepnieks, M. Benson, M. Delpech, 1999, The American journal of pathology.

Longest Form of CCTG Microsatellite Repeat in the Promoter of the CD2BP1/PSTPIP1 Gene Is Associated with Aseptic Abscesses and with Crohn Disease in French Patients

J. Piette, M. Chamaillard, N. Costedoat-Chalumeau, 2010, Digestive Diseases and Sciences.

Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutations

V. Zoete, M. Delpech, P. Pisella, 2011, Molecular vision.

H244R VSX1 is associated with selective cone ON bipolar cell dysfunction and macular degeneration in a PPCD family.

M. Delpech, J. Le Gargasson, S. Valleix, 2006, Investigative ophthalmology & visual science.

Characterization of an arginine-specific protein kinase tightly bound to rat liver DNA.

M. Delpech, J. Kruh, F. Lévy-Favatier, 1987, European journal of biochemistry.

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome

F. Speleman, C. Petit, R. Coimbra, 2003, Nature Genetics.

A protein phosphatase is involved in the inhibition of histone deacetylation by sodium butyrate.

L. Cuisset, M. Delpech, L. Tichonicky, 1998, Biochemical and biophysical research communications.

Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2)

J. Hardelin, Jacques Young, D. Lacombe, 2005, Human mutation.

Association of TNF2, a TNF-alpha promoter polymorphism, with septic shock susceptibility and mortality: a multicenter study.

J. Dhainaut, C. Delclaux, J. Mira, 1999, JAMA.

Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome

J. Hardelin, S. Jacquemont, C. Dodé, 2008, European Journal of Human Genetics.

Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2

C. Petit, J. Hardelin, Jacques Young, 2006, PLoS genetics.

Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis

K. Devriendt, G. Mortier, J. Hardelin, 2007, Human mutation.

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations

L. Santoro, C. Angelini, K. Claes, 2015, Neuromuscular Disorders.

PEG1 expression in maternal uniparental disomy 7.

L. Cuisset, J. Dupont, M. Delpech, 1997, Annales de genetique.

Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF).

J. Weissenbach, A. Bernot, C. Cruaud, 1998, Human molecular genetics.

Hereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulin.

M. Bolognesi, C. Lacroix, P. Lozeron, 2012, The New England journal of medicine.

Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France

A. Fabre, I. Touitou, L. Cuisset, 2010, Annals of the rheumatic diseases.

Expression of human F8B, a gene nested within the coagulation factor VIII gene, produces multiple eye defects and developmental alterations in chimeric and transgenic mice.

R. Joshi, D. Bucchini, J. Jeanny, 1999, Human molecular genetics.

MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications.

J. Kouyoumdjian, C. Cazeneuve, S. Amselem, 1999, American journal of human genetics.

Synchrotron x-ray microdiffraction reveals intrinsic structural features of amyloid deposits in situ.

M. Delpech, M. Riès-Kautt, B. Fayard, 2011, Biophysical journal.

Amyloidosis and auto-inflammatory syndromes.

N. Ravet, L. Cuisset, C. Cazeneuve, 2005, Current drug targets. Inflammation and allergy.

Association of TNF2 ,aT NF- aPromoter Polymorphism, With Septic Shock Susceptibility and Mortality

C. Delclaux, J. Mira, A. Cariou, 2013 .

The protein kinases tightly bound to DNA are present in normal tissues and in regenerating liver, but strongly decreased in hepatomas.

M. Delpech, J. Kruh, F. Lévy-Favatier, 1989, Biochimie.

A transcriptional Map of the FMF region.

G. Gyapay, N. Chiannilkulchai, C. Fizames, 1998, Genomics.

Quantitative analysis of histone H1° protein synthesis in HTC cells

L. Cuisset, M. Delpech, L. Tichonicky, 1999 .

Nucleotide Sequence of theblaRTG-2 (CARB-5) Gene and Phylogeny of a New Group of Carbenicillinases

D. Choury, M. Szajnert, K. Azibi, 2000, Antimicrobial Agents and Chemotherapy.

Hereditary fevers.

M. Delpech, J. Drenth, G. Grateau, 1999, Current Opinion in Rheumatology.

Mutational spectrum in the MEFV and TNFRSF1A genes in patients suffering from AA amyloidosis and recurrent inflammatory attacks.

B. Hazenberg, M. Gubler, C. Dodé, 2002, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Genotypic diagnosis of familial Mediterranean fever (FMF) using new microsatellite markers: example of two extensive non-Ashkenazi Jewish pedigrees.

I. Touitou, C. Clépet, M. Delpech, 1997, Journal of medical genetics.

Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44.

J. Beckmann, D. Scott, David Steven Scott, 1999, American journal of human genetics.

THE BRADLOW PARAMETER EXPANSION AND ITS APPLICATIONS IN FIELD THEORY

M. Delpech, 2007 .

Benchmark of Dynamic Simulation Tools for Molten Salt Reactors

A. Rineiski, J. Křepel, M. Szieberth, 2003 .

Nuclear accumulation of HMG1 protein is correlated to DNA synthesis

M. Delpech, F. Harper, E. Puvion, 1986, Biology of the cell.

Purification of Chromosomal Hmg Proteins by HPLC Characterization of Two New Species: HMG O and HMG X

D. Labie, M. Delpech, J. Boissel, 1985 .

Analysis and preparation of chromosomal high-mobility group proteins by ion-exchange high-performance liquid chromatography.

M. Delpech, J. Boissel, J. Kruh, 1985, Journal of chromatography.

Transthyretin mutation (TTRGly47Ala) associated with familial amyloid polyneuropathy in a French family

M. Delpech, R. Guillemain, N. Magy, 2002, Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.

Clinical, histologic, and ultrastructural features of the corneal dystrophy caused by the R124L mutation of the BIGH3 gene.

M. Delpech, S. Valleix, S. Drunat, 2000, Ophthalmology.

A Novel Variant of Granular Corneal Dystrophy Caused by Association of 2 Mutations in the TGFBI Gene—R124L and ΔT125-ΔE126

M. Delpech, S. Valleix, S. Drunat, 2000 .

[Cancer genetics: estimation of the needs of the population in France for the next ten years].

J. Saurin, C. Bonaïti‐pellié, D. Stoppa-Lyonnet, 2009, Bulletin du cancer.

A family with gastrointestinal amyloidosis associated with variant lysozyme.

D. Droz, M. Delpech, R. Laugier, 2002, Gastroenterology.

Interleukin 1 gene cluster polymorphisms in multiplex families with spondylarthropathies.

E. Génin, M. Delpech, R. Tamouza, 2001, Cytokine.

Analysis of the NOD2/CARD15 Gene in Patients Affected with the Aseptic Abscesses Syndrome with or without Inflammatory Bowel Disease

L. Ouchchane, J. Piette, B. Dastugue, 2008, Digestive Diseases and Sciences.