Ouvre un lien externe dans la fenêtre courantePublications "Maladies du globule rouge"Ouvre un lien externe dans la fenêtre courantePublications "Physiopathologie et facteurs génétiques des surcharges martiales"Ouvre un lien externe dans la fenêtre courantePublications "Facteur VII (F7)"    

Maladies du globule rouge

 Réseau DHOS maladies rares du globule rouge (Aguilar-Martinez P, Badens C, Bonello-Palot N, Cadet E, Couque N, Ducrocq R, Elion J, Francina A, Joly P, Pissard S, Rochette J. Arbres décisionnels pour le diagnostic et la caractérisation moléculaire des hémoglobinopathies. Annales de biologie clinique 2010; 68: 1-10. Aguilar-Martinez P, Jourdan E, Brun S, Cunat S, Giansily-Blaizot M, Pissard S and Schved JF. A novel mutation of the ß-globin gene promoter (-102 C>A) and pitfalls in family screening. Am J Hematology 2007; 82: 1088-90. Hussein G, Fawzy M, El Serafi T, Ismail EF, El Metwally D, Saber MA, Giansily M, Schved JF, Pissard S, Aguilar Martinez P. Rapid detection of ß-thalassemia alleles in Egypt using naturally or amplified created restriction sites and direct sequencing: a step in disease control. Hemoglobin 2007; 31: 49-62. Bonafoux B, Lejeune M, Piquemal D, Quere R, Baudet A, Assaf L, Marti J, Aguilar-Martinez P, Commes T. Analysis of remnant reticulocyte mRNA reveals new genes and antisense transcripts expressed in the human erythroid lineage. Haematologica 2004; 89: 1434-8. Aguilar-Martinez P, Schved JF, Badens C, Thuret I, Michel G, Neonato MG, Peltier JY, Girot R, Pissard S, Galacteros F, Bachir D, Rose C, Picot MC, Denamur E, Elion J. Iron overload in thalassaemias and genetic haemochromatosis. European J Haematol 2000; 64: 279-80.  Bile AD, Le Gallais B, Mercier B, Martinez P, Said A, Préfaut C, Mercier J. Blood lactate concentrations during incremental exercise in subjects with sickle cell trait. Medecine and Science in sport and exercise 1998; 30: 649-54. Maugard C, Aguilar-Martinez P, Gris JC, Arnaud A, Lalloyer N, Schved JF. Prévalence des bêta-thalassémies mineures dans le département du Gard. Annales de Médecine Interne 1993; 144 : 83-4. Aguilar-Martinez P, Galacteros F, Schved JF, Blouquit Y, Gris JC, Demaille J, Claustres M. Comparison of the protein and DNA approaches for the characterization of a ß-globin chain variant, hemoglobin Cocody [ß21(B3) AspAsn], in a Caucasian patient. Ann Hematol 1993; 66: 269-72. 

Physiopathologie et facteurs génétiques des surcharges martiales

 Aguilar-Martinez P, Giansily-Blaizot M, Bismuth M, Cunat S, Igual H and Shved JF. HAMP promoter mutation nc.-153C>T in non p.C282Y homozygous patients with iron overload. Haematologica 2010; 95:687-8. Aguilar-Martinez P, Bismuth M, Blanc F, Blanc P, Cunat S, Dereure O, Dujols P, Giansily-Blaizot M, Jorgensen C, Konate A, Larrey D, Le Quellec A, Mura T, Raingeard I, Ramos J, Renard E, Rousseau F, Schved JF and Picot MC. The Southern French registry of genetic hemochromatosis: a tool for determination of clinical prevalence of the disorder and genotype penetrance. Haematologica 2010; 95:551-6. Cunat S, Giansily-Blaizot M, Bismuth M, Blanc F, Dereure O, Larrey D, Le Quellec A, Pouderoux P, Christian Rose C, Raingeard I, Renard E, Schved JF, Aguilar-Martinez P and the CHU Montpellier AOI 2004 working group. Global sequencing approach for characterizing the molecular background of hereditary iron disorders. Clinical Chemistry 2007; 53: 2060-9.  Aguilar-Martinez P, Yu Lok C, Cunat S, Cadet E, Robson K and Rochette J. Juvenile hemochromatosis in 5-year-old girl due to a novel combination of hemojuvelin G320V/R176C mutations. Haematologica 2007; 92: 421-2. Aguilar Martinez P. "Hyperferritinemia, what does that mean?". Invited review (with peer review) for the professional website "BloodMed", (The online resource for hematology research, practice and education). March 2006. Aguilar Martinez P, Schved JF and Brissot P. The evaluation of hyperferritinemia: An updated strategy based on advances in detecting genetic abnormalities. (Review) Am J Gastroenterol 2005; 100: 1185-94. Aguilar-Martinez P, Schved JF. Vers une classification raisonnée des surcharges en fer et des hyperferritinémies héréditaires. (revue) Hématologie 2004; 10: 275-85. Dereure O, Aguilar-Martinez P, Bessis D, Blanc F, Larrey D, Guillot B, Schved JF, Guilhou JJ. No significant association between CYP1A2 polymorphism and porphyria cutanea tarda. Acta Derm Venereol 2004; 84: 254-5. Matthes T, Aguilar-Martinez P, Pizzi-Bosman L, Darbellay R, Rubbia-Brandt L, Giostra E, Michel M, Ganz T, Beris P. Severe hemochromatosis in a Portuguese family associated with a new mutation in the 5’UTR of the HAMP gene. Blood 2004; 104: 2181-3. Dereure O, Esculier C, Aguilar-Martinez P, Bessis D, Guillot B, Guilhou JJ. No evidence of Y250X transferrin receptor type 2 mutation in patients with porphyria cutanea tarda. A study of 38 cases. Dermatology 2002; 204: 158-9.  Aguilar-Martinez P, Picot MC, Becker F, Boulot P, Montoya F, Mares P, Bachelard B, Henry Y, Delarbre JM, Sarda P, Schved JF. Prevalence of HFE mutations in people from North Africa living in Southern France. British J Haematol 2001; 114: 914-6. Aguilar-Martinez P, Bismuth M, Picot MC, Thelcide C, Pageaux GP, Blanc F, Blanc P, Schved JF and Larrey D. Variable phenotypic presentation of iron overload in H63D homozygotes: are gene modifiers the cause ? Gut 2001; 48: 836-42. Aguilar-Martinez P, Esculié-Coste C, Bismuth M, Giansily-Blaizot M, Larrey D and Schved JF. Transferrin receptor-2 gene and non-C282Y homozygous patients with hemochromatosis. Blood Cells Mol Dis 2001; 27: 290-3. Dereure O, Aguilar-Martinez P, Bessis D, Perney P, Vallat C, Guillot B, Blanc F, Guilhou JJ. HFE mutations and transferrin receptor polymorphism analysis in porphyria cutanea tarda: a prospective study of 36 cases from Southern France. British J Dermatology 2001; 144: 533-9. Giansily M, Beaumont C, Desveaux C, Hetet G, Schved JF, Aguilar-Martinez P. DGGE screening for mutations in the Hereditary Hyperferritinaemia Cataract Syndrome. British J Haematol 2001; 112: 51-4. Aguilar-Martinez P, Schved JF, Badens C, Thuret I, Michel G, Neonato MG, Peltier JY, Girot R, Pissard S, Galacteros F, Bachir D, Rose C, Picot MC, Denamur E, Elion J. Iron overload in Thalassaemia and Genetic Haemochromatosis. European J Haematol 2000; 64: 279-80  Aguilar-Martinez P, Thelcide C, Jeanjean P, Masmejean C, Giansily M and Schved JF. Haplotype analysis of the HFE gene: implications for the origins of hemochromatosis related mutations. Blood Cells Moll Ids 1999; 25: 166-9. Aguilar-Martinez P, Biron C, Blanc F, Masmejean C, Jeanjean P, Michel H, Schved JF. Compound heterozygotes for hemochromatosis gene mutations: may they help to understand the pathophysiology of the disease ? Blood Cells Molecules and Diseases 1997, 23: 269-76. Aguilar-Martinez P, Jeanjean P, Masmejean C, Biron C, Rabesandratana H, Schved JF. Simple and rapid detection of the newly described mutations in the HLA-H gene. Blood 1997; 89: 1835-36. Aguilar-Martinez P, Biron C, Masmejean C, Jeanjean P, Schved JF. A novel mutation in the Iron Responsive Element of Ferritin L-subunit gene as a cause for Hereditary Hyperferritinemia-Cataract Syndrome. Blood 1996; 88: 1895. 

Facteur VII (F7)

 Marty S, Barro C, Chatelain B, Fimbel B, Tribout B, Reynaud J, Schved JF, Giansily-Blaizot M. The paradoxical association between inherited factor VII deficiency and venous thrombosis. Haemophilia 2008; 14: 564-70. Giansily-Blaizot M, Thorel D, Khau Van Kien P, Behar C, Romey MC, Mugneret F, Schved JF, Claustres M. Characterisation of a large complex intragenic re-arrangement in the FVII gene (F7) avoiding misdiagnosis in inherited factor VII deficiency. British Journal of Haematology 2007; 138: 359-65.  Giansily-Blaizot M, Flory-Pigagniol L, Favier R, Farah RA, Martin-Toutain I, Verdy E, and Schved JF. Accurate characterization of the IVS7 repeat polymorphism of FVII gene and identification of three novel allelic forms. Thromb Haemost 2006; 96: 95-7.   Giansily-Blaizot M, Schved JF. Potential predictors of bleeding risk in inherited factor VII deficiency. Clinical, biological and molecular criteria. Thromb Haemost 2005; 94: 901-6. Giansily-Blaizot M, Verdier R, Biron-Adréani C, Schved JF, and the study group of FVII deficiency. Analysis of biological phenotypes from 42 patients with inherited FVII deficiency: can biological tests predict the bleeding risk? Haematologica 2004; 89: 704-9. Giansily-Blaizot M, Aguilar-Martinez P, Briquel ME, d'Oiron R, De Maistre E, Epelbaum S, Schved JF. Two novel cases of cerebral haemorrhages at the neonatal period associated with inherited factor VII deficiency, one of them revealing a new nonsense mutation (Ser52Stop). Blood Coagul Fibrinolysis 2003; 14: 217-20. Chen SW, Pellequer JL, Schved JF and Giansily-Blaizot M. Model of a ternary complex between activated factor VII, tissue factor and factor IX. Thromb Haemost 2002; 88: 74-82. Giansily-Blaizot M, Biron-Andréani C, Aguilar-Martinez P, de Moeloose P, Briquel ME, Goudemand J, Stieltjes N, Barrot C, Chambost H, Durin A, Gay V, Peynet J, Pouymayou K, Schved JF. Inherited factor VII deficiency and surgery: clinical data are the best criteria to predict the risk of bleeding. British Journal of Haematology 2002; 117: 172-5. Giansily-Blaizot M, Aguilar-Martinez P, Biron-Andréani C, Jeanjean P, Igual H, Schved JF and the Study Group of Factor Seven Deficiency. Analysis of the genotypes and phenotypes of 37 unrelated patients with inherited factor VII deficiency. European Journal of Human Genetics 2001; 9: 105-12. Giansily-Blaizot M, Aguilar-Martinez P, Mazurier C, Cneude F, Goudemand J, Schved JF, de Martinville B. Prenatal diagnosis of severe factor VII deficiency by mutation detection and linkage analysis. British Journal of Haematology 2001; 112: 251-2. Benlakhal F, Mura T, Schved JF and Giansily-Blaizot M. French Study Group of Factor VII Deficiency. A retrospective analysis of 157 surgical procedures performed without replacement therapy in 83 unrelated factor VII-deficient patients. J Thromb Haemost. 2011 Jun;9(6):1149-56  Tokgoz H, Caliskan U, Lavigne-Lissalde G and Giansily-Blaizot M. Successful prophylactic use of recombinant activated factor VII (rFVIIa) in a patient with congenital FVII deficiency and inhibitors to FVII. Haemophilia. 2012 Jan;18(1):e25-7.  Branchini A, Rizzotto L, Mariani G, Napolitano M, Lapecorella M, Giansily-Blaizot M, Mari R, Canella A, Pinotti M and Bernardi F. Natural and engineered carboxy-terminal variants: decreased secretion and gain-of-function result in asymptomatic coagulation factor VII deficiency. Haematologica. 2012 May;97(5):705-9. Giansily-Blaizot M, Lopez E, Viart V, Chafa O, Tapon-Bretaudière J, Claustres M, Taulan M. Lethal factor VII deficiency due to novel mutations in the F7 promoter: Functional analysis reveals disruption of HNF4 binding site. Thromb Haemost. 2012 May 25;108(2): 277-83. Bonhomme F, Schved JF, Giansily-Blaizot M, Samama CM, de Moerloose P. [Rare bleeding disorders and invasive procedures.]. Ann Fr Anesth Reanim. 2013 Mar;32(3):198-205 Napolitano M, Giansily-Blaizot M, Dolce A, Schved JF, Auerswald G, Ingerslev J, Bjerre J, Altisent C, Charoenkwan P, Michaels L, Chuansumrit A, Di Minno G, Caliskan U, Mariani G. Prophylaxis in congenital factor VII deficiency: indications, efficacy and safety. Results from the Seven Treatment Evaluation Registry (STER). Haematologica. 2013;98:538-544.  Borhany M, Boijout H, Pellequer JL, Shamsi T, Moulis G, Aguilar-Martinez P, Schved JF and Giansily-Blaizot M. Genotype and phenotype relationships in 10 Pakistani unrelated patients with inherited factor VII deficiency. Haemophilia. 2013 Nov;19(6):893-7.  Branchini A, Baroni M, Pfeiffer C, Batorova A, Giansily-Blaizot M, Schved JF, Mariani G, Bernardi F, Pinotti M. Coagulation factor VII variants resistant to inhibitory antibodies. Thromb Haemost. 2014 Nov;112(5):972-80  Mourey G, Tachon G, Pellequer JL, Zawadzki C, Trossaërt M, Bertrand MA, Schved JF and Giansily-Blaizot M. A Haut-Doubs FVII variant depending on species-derived-thromboplastin reagent (F7:p.Arg337His). Haemophilia. 2014 Jul;20(4):e347-9. Borhany M, Delbes C, Giansily-Blaizot M, Zubair M, Ahmed MS, Fatima N, Shamsi T. A new report of FVII-inhibitor in a patient suffering from severe congenital FVII deficiency. Haemophilia. 2015 May 8. doi: 10.1111/hae.12708. [Epub ahead of print] PubMed PMID: 25955166. Farah R, Al Danaf J, Braiteh N, Costa JM, Farhat H, Mariani G and Giansily-Blaizot M. Life-threatening bleeding in factor VII deficiency: the role of prenatal diagnosis and primary prophylaxis. Br J Haematol. 2015 Feb;168(3):452-5. 



Ouvre une fenêtre pour la rédaction d'un

Tél.  04 67 33 70 31
Fax. 04 67 33 70 36