M Delpech

Summary

Country: France

Publications

  1. ncbi Genetically determined recurrent fevers
    M Delpech
    Génétique et Physiopathologie des Maladies Inflammatoires, Institut National de la Santé et de la Recherche Médicale INSERM EMI 00 05, Faculté de Médecine Cochin Port Royal, 24 rue du Fg St Jacques, 75014, Paris, France
    Curr Opin Immunol 13:539-42. 2001
  2. ncbi Clinical, histologic, and ultrastructural features of the corneal dystrophy caused by the R124L mutation of the BIGH3 gene
    P Dighiero
    Department of Ophthalmology, Hotel Dieu de Paris, Paris, France
    Ophthalmology 107:1353-7. 2000
  3. ncbi Clinical versus genetic diagnosis of familial Mediterranean fever
    G Grateau
    Service de Medecine Interne, L Hôtel Dieu, Paris, Service de Biochimie Génétique, Hopital Cochin, Assistance Publique Hopitaux de Paris, France
    QJM 93:223-9. 2000
  4. ncbi Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene
    N Ravet
    Service de Medecine Interne, Hopital Tenon, 4 rue de la Chine, 75970 Paris Cedex 20, Paris, France
    Ann Rheum Dis 65:1158-62. 2006
  5. ncbi Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome
    W Ammouri
    Department of Internal Medicine, Tenon Hospital, Paris, France
    Rheumatology (Oxford) 46:1597-600. 2007
  6. ncbi Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome
    L Cuisset
    Génétique et physiopathologie des maladies inflammatoires héréditaires, Institut Cochin de Génétique Moléculaire and Hôpital Cochin, Assistance Publique Hopitaux de Paris, Paris, France
    Eur J Hum Genet 9:260-6. 2001
  7. ncbi Interleukin 1 gene cluster polymorphisms in multiplex families with spondylarthropathies
    K Djouadi
    EMI 00-05, , CHU Cochin, 24 rue du Fg St Jacques, 75014 Paris, France
    Cytokine 13:98-103. 2001
  8. ncbi Histologic phenotype-genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI gene
    P Dighiero
    Department of Ophthalmology, Hotel Dieu Hospital, Paris, France
    Ophthalmology 108:818-23. 2001
  9. ncbi [Molecular genotyping: development and limits]
    M Delpech
    Laboratoire de Biochimie et Genetique Moleculaire, Hopital Cochin, 123, boulevard de Port Royal, 75014, Paris, France
    Transfus Clin Biol 10:175-8. 2003
  10. ncbi Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever
    C Dode
    Service de Biochimie Génétique, Hopital Cochin, Paris, France
    Am J Med Genet 92:241-6. 2000

Collaborators

  • G Grateau
  • C Dode
  • N Ravet
  • R Tamouza
  • J P Drenth
  • E Genin
  • M O Rolland
  • A Simon
  • P Levy
  • I Touitou
  • B Granel
  • R Topaloglu
  • Isabelle Kone-Paut
  • M Rozenbaum
  • P Dighiero
  • L Cuisset
  • A Bernot
  • B Nedelec
  • S Valleix
  • W Ammouri
  • F d'Hermies
  • G Renard
  • N Smaoui
  • M Dupont
  • C Cazeneuve
  • C Pecheux
  • V Hentgen
  • C Caloustian
  • C Cruaud
  • J L Petit
  • J Weissenbach
  • M Jadoul
  • E Ellie
  • I Mansour
  • K Djouadi
  • C Dross
  • C Clepet
  • J Demaille
  • M Savoldelli
  • P Ellies
  • S Drunat
  • M Goossens
  • S Amselem
  • L Hamidi Asl
  • J P Mira
  • S Rouaghe
  • C da Silva
  • R Heilig
  • C Devaud
  • D Samson
  • D Charron
  • N Salem
  • D Abramowicz
  • M Medlej-Hashim
  • A Megarbane
  • S van der Velde Visser
  • G Lefranc
  • A Vital
  • S Laoussadi
  • J Loiselet
  • Y Pirson
  • V Delague
  • J W van der Meer
  • M F Vincent
  • R Ramasawmy
  • B Georges
  • F Camou
  • I Levan-Petit
  • R Naman
  • L El Zein
  • F Niel
  • E Chouery
  • C Rummens
  • J P Cosyns
  • Y Pouliquen
  • J M Legeais
  • P Reinert
  • F Riche
  • C Delclaux
  • M Dervichian
  • J L Teboul
  • G Leleu
  • A Cariou
  • L Arbibe
  • F Grall
  • C Cheval
  • H Ajrapetyan
  • M D Benson
  • T Sarkisian
  • A Ayvazyan

Detail Information

Publications26

  1. ncbi Genetically determined recurrent fevers
    M Delpech
    Génétique et Physiopathologie des Maladies Inflammatoires, Institut National de la Santé et de la Recherche Médicale INSERM EMI 00 05, Faculté de Médecine Cochin Port Royal, 24 rue du Fg St Jacques, 75014, Paris, France
    Curr Opin Immunol 13:539-42. 2001
    ..Since the discovery of the responsible gene, TNF-receptor-associated periodic syndrome seems to be more frequent than previously considered. Among the new mutations described, some are associated with an incomplete penetrance...
  2. ncbi Clinical, histologic, and ultrastructural features of the corneal dystrophy caused by the R124L mutation of the BIGH3 gene
    P Dighiero
    Department of Ophthalmology, Hotel Dieu de Paris, Paris, France
    Ophthalmology 107:1353-7. 2000
    ..This study was designed to describe the clinical, histologic, and ultrastructural features of the corneal dystrophy associated with the R124L mutation of the BIGH3 gene...
  3. ncbi Clinical versus genetic diagnosis of familial Mediterranean fever
    G Grateau
    Service de Medecine Interne, L Hôtel Dieu, Paris, Service de Biochimie Génétique, Hopital Cochin, Assistance Publique Hopitaux de Paris, France
    QJM 93:223-9. 2000
    ..Our results suggest that the spectrum of FMF-associated signs is broader than previously believed. Wider indications for genotyping should lead to more frequent diagnosis of FMF...
  4. ncbi Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene
    N Ravet
    Service de Medecine Interne, Hopital Tenon, 4 rue de la Chine, 75970 Paris Cedex 20, Paris, France
    Ann Rheum Dis 65:1158-62. 2006
    ..However, the nature of two substitutions, P46L and R92Q, remains a topic of discussion. The aim of this study was to assess the actual role of these two sequence variations in a series of patients with TRAPS...
  5. ncbi Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome
    W Ammouri
    Department of Internal Medicine, Tenon Hospital, Paris, France
    Rheumatology (Oxford) 46:1597-600. 2007
    ..We aimed to asses the value of a high IgD serum level for the diagnosis of HIDS in a cohort of patients with a phenotype of recurrent fever, and to characterize patients with a high IgD serum level without mevalonate kinase mutation...
  6. ncbi Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome
    L Cuisset
    Génétique et physiopathologie des maladies inflammatoires héréditaires, Institut Cochin de Génétique Moléculaire and Hôpital Cochin, Assistance Publique Hopitaux de Paris, Paris, France
    Eur J Hum Genet 9:260-6. 2001
    ..Three patients are also described to illustrate the genotypic and phenotypic overlap with mevalonic aciduria...
  7. ncbi Interleukin 1 gene cluster polymorphisms in multiplex families with spondylarthropathies
    K Djouadi
    EMI 00-05, , CHU Cochin, 24 rue du Fg St Jacques, 75014 Paris, France
    Cytokine 13:98-103. 2001
    ..In conclusion, by means of intra-familial TDT analysis we found no linkage or intra-familial association between SpA and the three IL-1 gene-cluster polymorphisms in SpA multiplex family material...
  8. ncbi Histologic phenotype-genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI gene
    P Dighiero
    Department of Ophthalmology, Hotel Dieu Hospital, Paris, France
    Ophthalmology 108:818-23. 2001
    ..To establish a phenotype-genotype correlation of various autosomal-dominant corneal dystrophies among French subjects...
  9. ncbi [Molecular genotyping: development and limits]
    M Delpech
    Laboratoire de Biochimie et Genetique Moleculaire, Hopital Cochin, 123, boulevard de Port Royal, 75014, Paris, France
    Transfus Clin Biol 10:175-8. 2003
    ..Some systems and DNA chips designed for medical diagnosis are already available. The present main problem is their very high cost...
  10. ncbi Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever
    C Dode
    Service de Biochimie Génétique, Hopital Cochin, Paris, France
    Am J Med Genet 92:241-6. 2000
    ..Two new mis-sense mutations were identified in exon 10 of the MEFV gene: the S675N in an Italian patient and the M680L in a French patient without any known at-risk ethnic ancestry...
  11. ncbi Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF)
    A Bernot
    Genethon, CNRS URA1922, 91000 Evry, France
    Hum Mol Genet 7:1317-25. 1998
    ..Altogether, these new findings definitively establish the marenostrin/pyrin-encoding gene as the MEFV locus...
  12. ncbi Genotypic diagnosis of familial Mediterranean fever (FMF) using new microsatellite markers: example of two extensive non-Ashkenazi Jewish pedigrees
    M Dupont
    Laboratoire de Génétique Moleculaire et Chromosomique, Hopital A de Villeneuve, Montpellier, France
    J Med Genet 34:375-81. 1997
    ..With the help of this accurate test, colchicine treatment can be better targeted, especially where the symptomatology is mild or atypical...
  13. ncbi Autosomal-dominant periodic fever with AA amyloidosis: Novel mutation in tumor necrosis factor receptor 1 gene Rapid Communication
    M Jadoul
    Department of Nephrology, Cliniques Universitaires St. Luc, , Brussels, Belgium. jadoul2nefr.ucl.ac.be
    Kidney Int 59:1677-82. 2001
    ..This condition, known as TRAPS, should be added to the differential diagnosis of hereditary renal amyloidosis, with obvious implications for management and genetic counseling...
  14. ncbi 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
    I Mansour
    Unite de Genetique Medicale, Université Saint Joseph, Faculte de Medecine, Beirut, Lebanon
    Eur J Hum Genet 9:51-5. 2001
    ..001) between amyloidosis and the presence of mutations at codon 694 in exon 10 (both M694V and M694I). None of the patients carrying other mutations developed amyloidosis...
  15. ncbi A candidate gene for familial Mediterranean fever
    A Bernot
    Nat Genet 17:25-31. 1997
    ..We therefore propose that the sequence alterations in the marenostrin protein are responsible for the FMF disease...
  16. ncbi A transcriptional Map of the FMF region
    A Bernot
    Genethon, CNRS URA 1922, Evry, France cope cns fr
    Genomics 50:147-60. 1998
    ..Data accumulated in this region were also used in a comparative study of different methods of exon detection...
  17. ncbi 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
    C Cazeneuve
    1Service de Biochimie et de Génétique Moléculaire and the Institut National de la Santé et de la Recherche Médicale Unité 468, Hopital, Mondor, France
    Am J Hum Genet 65:88-97. 1999
    ..The demonstration of both the diagnostic and prognostic value of MEFV analysis and particular modes of inheritance should lead to new ways for management of FMF-including genetic counseling and therapeutic decisions in affected families...
  18. ncbi Characterization, purification and cDNA cloning of a rat perchloric-acid-soluble 23-kDa protein present only in liver and kidney
    F Levy-Favatier
    Institut Cochin de Genetique Moleculaire, Faculté de Médecine Cochin Port Royal, Paris, France
    Eur J Biochem 212:665-73. 1993
    ..Zoo-blot analysis at medium stringency strongly suggests that the gene has been conserved during evolution. The amino-acid sequence of this protein with a highly conserved region is similar to that of a heat-shock protein...
  19. ncbi [Tumor necrosis factor receptor superfamily 1A-associated periodic syndrome (TRAPS)]
    V Hentgen
    , Centre Hospitalier Intercommunal, , France
    Rev Med Interne 24:781-5. 2003
    ..In some families with specific mutations, a relative soluble TNF receptor deficiency has been found in the plasma. However this mechanism does not account for what is observed in other kindreds...
  20. ncbi Hereditary amyloid cardiomyopathy caused by a variant apolipoprotein A1
    L Hamidi Asl
    ICGM CHU Cochin, Laboratoire de Biochimie et Biologie Moleculaire, Paris, France
    Am J Pathol 154:221-7. 1999
    ..This is in agreement with studies on transthyretin amyloidosis in which no unifying factor such as change of charge for amino acid residues has been noted...
  21. ncbi 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
    A Simon
    University Medical Center St. Radboud, Box 9101, 6500 HB Nijmegen, The Netherlands
    Ann Intern Med 135:338-43. 2001
    ..The IgD level did not correlate with disease severity, mevalonate kinase enzyme activity, or genotype. CONCLUSION: Genetic heterogeneity exists among patients with a clinical diagnosis of HIDS...
  22. ncbi Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu)
    E Ellie
    Service de Neurologie, Centre Hospitalier de la Côte Basque, Bayonne, France
    Neurology 57:135-7. 2001
    ....
  23. ncbi Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group
    J P Drenth
    Laboratoire de Génétique Moléculaire Humaine, Institut Cochin de Génétique Moléculaire and Hôpital Cochin, Assistance Publique Hopitaux de Paris, France
    Nat Genet 22:178-81. 1999
    ..Functional analysis demonstrated diminished MK activity in fibroblasts from HIDS patients. Our data establish MVK as the gene responsible for HIDS...
  24. ncbi Association of TNF2, a TNF-alpha promoter polymorphism, with septic shock susceptibility and mortality: a multicenter study
    J P Mira
    Intensive Care Unit, Cochin Port Royal University Hospital, Paris, France
    JAMA 282:561-8. 1999
    ..TNF2, a polymorphism within the TNF-alpha gene promoter, has been associated with enhanced TNF-alpha production and negative outcome in some severe infections...
  25. ncbi A novel variant of granular corneal dystrophy caused by association of 2 mutations in the TGFBI gene-R124L and DeltaT125-DeltaE126
    P Dighiero
    Laboratoire de Biochimie et Genetique Moleculaire, 123 boulevard du Port Royal, 75014 Paris, France
    Arch Ophthalmol 118:814-8. 2000
    ..To characterize the molecular defect in the TGFBI gene in a French family affected with an atypical granular corneal dystrophy...
  26. ncbi A novel mutation (Arg-->Leu in exon 18) in factor VIII gene responsible for moderate hemophilia A
    K Nafa
    Centre de Transfusion Sanguine, CHU Mustapha, Alger,
    Hum Mutat 1:77-8. 1992