Serge Pissard

Summary

Country: France

Publications

  1. ncbi HFE genotyping by amplification refractory mutation system-denaturing HPLC
    Serge Pissard
    Laboratory of Biochemistry and Human Molecular Genetics and INSERM U 468, Hopital Henri Mondor, AP HP, 51 Av du Marechal de Lattre de Tassigny, 94010 Creteil, France
    Clin Chem 48:769-72. 2002
  2. ncbi Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutations
    Serge Pissard
    Laboratoire de Biochimie et de Génétique, AP HP, Hopital Henri Mondor, Creteil, France
    Br J Haematol 133:683-9. 2006
  3. ncbi Perinatal zidovudine prophylaxis in HIV type-1-infected pregnant women with thalassaemia carriage in Thailand
    Nelly Briand
    Institut National d Etudes Demographiques, Paris, France
    Antivir Ther 14:117-22. 2009
  4. ncbi Severe hemolytic anemia in a Vietnamese family, associated with novel mutations in the gene encoding for pyruvate kinase
    Catherine Costa
    Laboratoire de Biochimie Genetique, AP HP, et INSERM U468, Hôpital Henri Mondor 94010 CRETEIL, France
    Haematologica 90:25-30. 2005
  5. ncbi Hydroxyurea can eliminate transfusion requirements in children with severe beta-thalassemia
    Mohamed Bradai
    Service d Hematologie, Hôpital Franz Fanon, Blida, Algeria
    Blood 102:1529-30. 2003
  6. ncbi Pyruvate kinase (PK) deficiency in newborns: the pitfalls of diagnosis
    Serge Pissard
    Laboratoire de Biochimie Génétique et INSERM U 841 eq 11, Hopital Henri Mondor, Creteil, France
    J Pediatr 150:443-5. 2007
  7. pmc Estimation of the difference in HbF expression due to loss of the 5' δ-globin BCL11A binding region
    Elyes Slim Ghedira
    APHP Molecular Genetics Department, Henri Mondor Hospital, Creteil, France
    Haematologica 98:305-8. 2013
  8. doi Practical approach for characterization of glucose 6-phosphate dehydrogenase (G6PD) deficiency in countries with population ethnically heterogeneous: description of seven new G6PD mutants
    Kamran Moradkhani
    AP HP, Hôpital H Mondor A Chenevier, Service de Biochimie et Génétique, Creteil 94000, France
    Am J Hematol 87:208-10. 2012
  9. doi A second observation of the rare frameshift mutation in the β-globin gene: codon 46 (+A) (Hbb:c.138_139insA)
    Elyes Slim Ghedira
    Laboratory of Biochemistry and Molecular Genetics, Henri Mondor Hospital APHP, Creteil, France
    Hemoglobin 35:157-61. 2011
  10. ncbi Two French Caucasian families with dominant thalassemia-like phenotypes due to hyper unstable hemoglobin variants: Hb Sainte Seve [codon 118 (-T)] and codon 127 [CAG-->TAG (Gln-->stop])
    Claude Prehu
    INSERM U654, Hopital Henri Mondor, Creteil, France
    Hemoglobin 29:229-33. 2005

Collaborators

Detail Information

Publications20

  1. ncbi HFE genotyping by amplification refractory mutation system-denaturing HPLC
    Serge Pissard
    Laboratory of Biochemistry and Human Molecular Genetics and INSERM U 468, Hopital Henri Mondor, AP HP, 51 Av du Marechal de Lattre de Tassigny, 94010 Creteil, France
    Clin Chem 48:769-72. 2002
  2. ncbi Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutations
    Serge Pissard
    Laboratoire de Biochimie et de Génétique, AP HP, Hopital Henri Mondor, Creteil, France
    Br J Haematol 133:683-9. 2006
    ..These results support the characterisation of PK mutations, and show that prenatal diagnosis can identify affected infants and prepare safer conditions for the birth...
  3. ncbi Perinatal zidovudine prophylaxis in HIV type-1-infected pregnant women with thalassaemia carriage in Thailand
    Nelly Briand
    Institut National d Etudes Demographiques, Paris, France
    Antivir Ther 14:117-22. 2009
    ....
  4. ncbi Severe hemolytic anemia in a Vietnamese family, associated with novel mutations in the gene encoding for pyruvate kinase
    Catherine Costa
    Laboratoire de Biochimie Genetique, AP HP, et INSERM U468, Hôpital Henri Mondor 94010 CRETEIL, France
    Haematologica 90:25-30. 2005
    ..The family requested an antenatal diagnosis during a second pregnancy. To characterize the molecular defect, we studied the family over three generations...
  5. ncbi Hydroxyurea can eliminate transfusion requirements in children with severe beta-thalassemia
    Mohamed Bradai
    Service d Hematologie, Hôpital Franz Fanon, Blida, Algeria
    Blood 102:1529-30. 2003
    ..We conclude that HU can eliminate transfusional needs in children with beta-thalassemia major, which could be particularly useful in countries such as Algeria, where supplies of blood or chelating agents are limited...
  6. ncbi Pyruvate kinase (PK) deficiency in newborns: the pitfalls of diagnosis
    Serge Pissard
    Laboratoire de Biochimie Génétique et INSERM U 841 eq 11, Hopital Henri Mondor, Creteil, France
    J Pediatr 150:443-5. 2007
    ..We report five cases, with a 1- to 17-month delayed diagnosis, highlighting the need to measure PK activity in neonates and parents in case of an hemolysis at birth...
  7. pmc Estimation of the difference in HbF expression due to loss of the 5' δ-globin BCL11A binding region
    Elyes Slim Ghedira
    APHP Molecular Genetics Department, Henri Mondor Hospital, Creteil, France
    Haematologica 98:305-8. 2013
    ..7 g/dL, ratio 2.81). This result provides evidence for the use of BCL11A level down-regulation or this domain blockage for new therapies in sickle cell disease and β-thalassemia major patients...
  8. doi Practical approach for characterization of glucose 6-phosphate dehydrogenase (G6PD) deficiency in countries with population ethnically heterogeneous: description of seven new G6PD mutants
    Kamran Moradkhani
    AP HP, Hôpital H Mondor A Chenevier, Service de Biochimie et Génétique, Creteil 94000, France
    Am J Hematol 87:208-10. 2012
    ..821A>T, p.Glu274Val), G6PD Villeurbanne (c.1000_1002delACC, p.Thr334del), and G6PD Amiens (c.1367A>T, p.Asp456Val)] and one found fortuitously G6PD Montpellier (c.1132G>A, p.Gly378Ser)...
  9. doi A second observation of the rare frameshift mutation in the β-globin gene: codon 46 (+A) (Hbb:c.138_139insA)
    Elyes Slim Ghedira
    Laboratory of Biochemistry and Molecular Genetics, Henri Mondor Hospital APHP, Creteil, France
    Hemoglobin 35:157-61. 2011
    ..In the parents and sister, hematological parameters were those of a thalassemia minor in agreement with the two β(0) mutations found in the family...
  10. ncbi Two French Caucasian families with dominant thalassemia-like phenotypes due to hyper unstable hemoglobin variants: Hb Sainte Seve [codon 118 (-T)] and codon 127 [CAG-->TAG (Gln-->stop])
    Claude Prehu
    INSERM U654, Hopital Henri Mondor, Creteil, France
    Hemoglobin 29:229-33. 2005
    ..These two observations are additional evidences of the important role played by helix H in Hb stability: its partial absence, or a large structural modification, seems to be the major reason for the hyper instability of such molecules...
  11. doi α-Hemoglobin stabilizing protein: a modulating factor in thalassemias?
    Henri Wajcman
    INSERM U955, IMRB, Universite Paris Est, 94010 Creteil, France
    Hemoglobin 35:463-8. 2011
    ..It therefore appears that AHSP is a factor with a key role in the formation of Hb tetramers and that structural abnormalities, either on the α-Hb or on the AHSP, may act as a thalassemia modulating factor...
  12. doi Characterization of three new deletions in the β-globin gene cluster during a screening survey in two French urban areas
    Serge Pissard
    Laboratoire de Genetique Moleculaire, CHU Henri Mondor AP HP, and Université Paris Est Créteil UPEC, Creteil, France
    Clin Chim Acta 415:35-40. 2013
    ..Deletions represent about 5% of the mutations in the β-globin gene cluster. We report here the screening for such deletions in the two French urban areas of Paris and Lyon between 2003 and 2010...
  13. ncbi Compound heterozygosity for two new mutations in the beta-globin gene [codon 9 (+TA) and polyadenylation site (AATAAA-->AAAAAA)] leads to thalassemia intermedia in a Tunisian patient
    Aurelia Jacquette
    Laboratoire de Biochimie et de Génétique, Hopital Henri Mondor, Creteil, France
    Hemoglobin 28:243-8. 2004
    ..We describe here a patient who originated from Tunisia, in whom we found two as yet unreported mutations, showing that even in a well-studied population a full gene study might be needed to characterize mutation(s)...
  14. ncbi A one-step real-time PCR assay for rapid prenatal diagnosis of sickle cell disease and detection of maternal contamination
    Catherine Costa
    Laboratoire de Genetique Moleculaire, CHU Henri Mondor AP HP, Creteil, France
    Mol Diagn 7:45-8. 2003
    ..In addition, these methods are labor intensive and time consuming and risk carry-over contamination...
  15. doi Erythrocyte density in sickle cell syndromes is associated with specific clinical manifestations and hemolysis
    Pablo Bartolucci
    Service de Medecine Interne, Hopital Henri Mondor, Assistance Publique Hopitaux de Paris AP HP, Universite Paris Est, Creteil, France
    Blood 120:3136-41. 2012
    ..Thus, DRBCs are associated with specific clinical manifestations and biologic markers and may be a useful addition to the biologic and clinical evaluation of patients with SCD, because they can easily be measured in a hematocrit tube...
  16. ncbi An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1
    Francois Yves Dupradeau
    Universite de Picardie Jules Verne, UPRES EA 3901 and INSERM E0351, Pôle Santé, Amiens, France
    Hum Mutat 29:206. 2008
    ..We conclude that the occurrence of complex alleles may be an alternative explanation for the variability of the phenotype in individuals who are compound heterozygous for c.[187C>G]+[845G>A] (p.[His63Asp]+[Cys282Tyr])...
  17. ncbi Rapid detection of beta-Thalassemia alleles in Egypt using naturally or amplified created restriction sites and direct sequencing: a step in disease control
    Gehan Hussein
    Laboratory of Hematology, Saint Eloi Hospital, CHU of Montpellier, Montpellier, France
    Hemoglobin 31:49-62. 2007
    ..7% of the compound heterozygous patients having consanguineous parents. These data provide insights for the distribution of beta-thal alleles in this region, and could be used as a basis for genetic counseling and prenatal diagnosis...
  18. ncbi A novel mutation of the beta-globin gene promoter (-102 C>A) and pitfalls in family screening
    Patricia Aguilar-Martinez
    Laboratory of Hematology, CHU of Montpellier, Montpellier, France
    Am J Hematol 82:1088-90. 2007
    ..In this family, we also report a new silent beta-thalassemia mutation, -102 (C>A), in the distal CACCC box of the beta-globin gene promoter...
  19. ncbi Decreased transfusion needs associated with hydroxyurea therapy in Algerian patients with thalassemia major or intermedia
    Mohamed Bradai
    Hematology Service, Franz Fanon Hospital, Blida, Algeria
    Transfusion 47:1830-6. 2007
    ..Our aims were to determine the proportion of good responders to hydroxyurea in a population of transfusion-dependent thalassemic patients and to identify the factors associated with a decrease of transfusion needs...
  20. ncbi Validation of a reverse-hybridization StripAssay for the simultaneous analysis of common alpha-thalassemia point mutations and deletions
    Helene Puehringer
    ViennaLab Diagnostics GmbH, Vienna, Austria
    Clin Chem Lab Med 45:605-10. 2007
    ..The complex genetics of alpha-thalassemias requires diagnostic methods with the capacity to screen rapidly and accurately for common causative mutations...