- Genetically determined recurrent feversM 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...
- Clinical, histologic, and ultrastructural features of the corneal dystrophy caused by the R124L mutation of the BIGH3 geneP 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...
- Clinical versus genetic diagnosis of familial Mediterranean feverG 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...
- Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A geneN 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...
- Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndromeW 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...
- Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndromeL 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...
- Interleukin 1 gene cluster polymorphisms in multiplex families with spondylarthropathiesK 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...
- Histologic phenotype-genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI geneP 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...
- [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...
- Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean feverC 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...
- 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...
- Genotypic diagnosis of familial Mediterranean fever (FMF) using new microsatellite markers: example of two extensive non-Ashkenazi Jewish pedigreesM 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...
- Autosomal-dominant periodic fever with AA amyloidosis: Novel mutation in tumor necrosis factor receptor 1 gene Rapid CommunicationM 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...
- 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 mutationsI 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...
- A candidate gene for familial Mediterranean feverA Bernot
Nat Genet 17:25-31. 1997..We therefore propose that the sequence alterations in the marenostrin protein are responsible for the FMF disease...
- A transcriptional Map of the FMF regionA 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...
- MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implicationsC 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...
- Characterization, purification and cDNA cloning of a rat perchloric-acid-soluble 23-kDa protein present only in liver and kidneyF 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...
- [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...
- Hereditary amyloid cardiomyopathy caused by a variant apolipoprotein A1L 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...
- 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 toolA 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...
- 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....
- Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study GroupJ 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...
- Association of TNF2, a TNF-alpha promoter polymorphism, with septic shock susceptibility and mortality: a multicenter studyJ 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...
- A novel variant of granular corneal dystrophy caused by association of 2 mutations in the TGFBI gene-R124L and DeltaT125-DeltaE126P 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...
- A novel mutation (Arg-->Leu in exon 18) in factor VIII gene responsible for moderate hemophilia AK Nafa
Centre de Transfusion Sanguine, CHU Mustapha, Alger,
Hum Mutat 1:77-8. 1992