Serge Pissard

Serge Pissard

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Serge Pissard

Serge Pissard

Publications by authors named "Serge Pissard"

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Short in-Frame Insertions/Deletions in the Coding Sequence of the α-Globin Gene. Consequences of the 3D Structure and Resulting Phenotypes: Hb Choisy as an Example.

Hemoglobin 2018 Sep - Nov;42(5-6):287-293. Epub 2019 Jan 30.

a Institut National de la Sante et de la Recherche Médicale (INSERM) U 955 eq 2 , Institut Mondor de Recherche Biomoléculaire (IMRB) , Créteil , France.

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http://dx.doi.org/10.1080/03630269.2018.1556683DOI Listing
May 2019

Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency.

Am J Hematol 2019 Jan 28;94(1):149-161. Epub 2018 Nov 28.

Department of Clinical Chemistry and Haematology, Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.

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http://doi.wiley.com/10.1002/ajh.25325
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http://dx.doi.org/10.1002/ajh.25325DOI Listing
January 2019

Red blood cells free α-haemoglobin pool: a biomarker to monitor the β-thalassemia intermedia variability. The ALPHAPOOL study.

Br J Haematol 2017 10 23;179(1):142-153. Epub 2017 Jun 23.

Institut National de la Santé et de la Recherche Médicale (Inserm)-U955, équipe 2 : Transfusion et Maladies du Globule Rouge, Institut Mondor de Recherche Biomédicale (IMRB), Université de Paris Est Créteil (UPEC), Créteil, France.

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http://doi.wiley.com/10.1111/bjh.14800
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http://dx.doi.org/10.1111/bjh.14800DOI Listing
October 2017

Elevated soluble α-hemoglobin pool in sickle cell anemia.

Am J Hematol 2017 10 24;92(10):E593-E595. Epub 2017 Jul 24.

Institut National de la Santé et de la Recherche Médicale (Inserm)-U955, équipe 2: Transfusion et Maladies du Globule Rouge, Institut Mondor de Recherche Biomédicale (IMRB), Université de Paris Est Créteil (UPEC), Créteil.

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http://dx.doi.org/10.1002/ajh.24835DOI Listing
October 2017

Clinical and biological specificity of beta-thalassemia intermedia: a case report.

Ann Biol Clin (Paris) 2016 Dec;74(6):688-692

Centre Hospitalier Universitaire, Département de biochimie et génétique, Angers, France.

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http://dx.doi.org/10.1684/abc.2016.1197DOI Listing
December 2016

Hb Olivet (HBA1: C.40G > A; p.Ala14Thr), a Novel Silent Hemoglobin Variant in Two Families of Distinct Origin.

Hemoglobin 2016 Sep 14;40(5):349-352. Epub 2016 Sep 14.

c Department of Pediatrics , Groene Hart Hospital , Gouda , the Netherlands.

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http://dx.doi.org/10.1080/03630269.2016.1210160DOI Listing
September 2016

Hb Savaria [α49(CE7)Ser→Arg; HBA2: c.150C > A]: A New Case and Complete Description.

Hemoglobin 2016 Aug 25;40(4):267-9. Epub 2016 May 25.

b Laboratory of Genetics , Assistance Publique-Hôpitaux De Paris (APHP), Groupe Hospitalier Universitaire (GHU) Henri Mondor , Créteil , France .

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http://dx.doi.org/10.1080/03630269.2016.1177539DOI Listing
August 2016

Amyl nitrite inhalation, a "volatile" anemia.

Am J Hematol 2016 Jun;91(4):448

Hematology Laboratory, University Hospital of Nancy, Nancy, France.

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http://dx.doi.org/10.1002/ajh.24229DOI Listing
June 2016

Genetic Modifiers of Sickle Cell Disease: A Genotype-Phenotype Relationship Study in a Cohort of 82 Children on Mayotte Island.

Hemoglobin 2015 25;39(3):156-61. Epub 2015 Mar 25.

Service de Pédiatrie, Centre Hospitalier de Mayotte , Mamoudzou , France .

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http://dx.doi.org/10.3109/03630269.2015.1023897DOI Listing
March 2016

Congenital Recessive Methemoglobinemia Revealed in Adulthood: Description of a New Mutation in Cytochrome b5 Reductase Gene.

Hemoglobin 2015 Jul 31:1-4. Epub 2015 Jul 31.

Service d'Onco Hématologie, Hôpital Saint Vincent de Paul , Lille , France.

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July 2015

Characterization of two unique α-globin gene cluster deletions causing α-thalassemia in Israeli Arabs.

Hemoglobin 2014 15;38(5):319-24. Epub 2014 Sep 15.

Department of Pediatrics B, Schneider Children's Medical Center of Israel , Petah Tikva , Israel .

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http://dx.doi.org/10.3109/03630269.2014.954668DOI Listing
June 2015

Variability of hemoglobin F expression in hemoglobin EE disease: hematological and molecular analysis.

Blood Cells Mol Dis 2014 Jun-Aug;53(1-2):11-5. Epub 2014 Feb 26.

Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10799796140001
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http://dx.doi.org/10.1016/j.bcmd.2014.02.005DOI Listing
January 2015

Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.

Hum Mol Genet 2014 Sep 8;23(17):4479-90. Epub 2014 Apr 8.

Laboratoire de Génétique Moléculaire et d'Histocompatibilité, Inserm U1078, Université de Brest, SFR SnInBioS, CHRU de Brest, Etablissement Français du Sang - Bretagne, Brest, France CHRU de Brest, Inserm CIC0502, Brest, France

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http://dx.doi.org/10.1093/hmg/ddu160DOI Listing
September 2014

Hemolytic anemia and progressive neurologic impairment: think about triosephosphate isomerase deficiency.

Fetal Pediatr Pathol 2014 Aug 19;33(4):234-8. Epub 2014 May 19.

1Faculté de médecine de Tunis, Université Tunis Elmanar. Hôpital Mohamed Tlatli de Nabeul, pediatrics, Nabeul, Tunisia.

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http://dx.doi.org/10.3109/15513815.2014.915365DOI Listing
August 2014

A novel epsilon gamma delta beta thalassemia presenting with pregnancy complications and severe neonatal anemia.

Eur J Haematol 2013 Feb 7;90(2):127-33. Epub 2013 Jan 7.

Pediatric Division, Soroka University Medical Center, Beer Sheva, Israel.

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http://dx.doi.org/10.1111/ejh.12047DOI Listing
February 2013

Characterization of three new deletions in the β-globin gene cluster during a screening survey in two French urban areas.

Clin Chim Acta 2013 Jan 7;415:35-40. Epub 2012 Sep 7.

Laboratoire de Génétique moléculaire, CHU Henri-Mondor AP-HP, and Université Paris Est Créteil (UPEC), Créteil, France.

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http://dx.doi.org/10.1016/j.cca.2012.08.030DOI Listing
January 2013

HBB loss of heterozygosity in the hemopoietic lineage gives rise to an unusual sickle-cell trait phenotype.

Haematologica 2013 Jan 12;98(1):e7-8. Epub 2012 Oct 12.

Unité de Pathologie Moléculaire du Globule Rouge, Fédération de Biochimie et de Biologie Spécialisée, Hôpital Edouard Herriot, Hospices Civils and Université Claude Bernard-Lyon 1, Lyon, France.

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http://dx.doi.org/10.3324/haematol.2012.071167DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3533668PMC
January 2013

Erythrocyte density in sickle cell syndromes is associated with specific clinical manifestations and hemolysis.

Blood 2012 Oct 23;120(15):3136-41. Epub 2012 Aug 23.

Service de Médecine Interne, Hôpital Henri-Mondor, Assistance Publique-Hôpitaux de Paris (AP-HP), Université Paris Est, Créteil, France.

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http://www.bloodjournal.org/cgi/doi/10.1182/blood-2012-04-42
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http://dx.doi.org/10.1182/blood-2012-04-424184DOI Listing
October 2012

[Molecular diagnosis of HFE mutations in routine laboratories. Results of a survey from reference laboratories in France].

Ann Biol Clin (Paris) 2012 May-Jun;70(3):305-13

Laboratoire de génétique moléculaire, Centre de référence des surcharges en fer rares d'origine génétique, CHU Pontchaillou, Rennes.

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http://dx.doi.org/10.1684/abc.2012.0704DOI Listing
August 2012

α-Hemoglobin stabilizing protein: a modulating factor in thalassemias?

Hemoglobin 2011 27;35(5-6):463-8. Epub 2011 Sep 27.

Inserm U955, IMRB, Université Paris Est, 94010 Créteil, France.

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http://dx.doi.org/10.3109/03630269.2011.576354DOI Listing
March 2012

First reported case of prenatal diagnosis for pyruvate kinase deficiency in a Chinese family.

Hematology 2011 Nov;16(6):377-9

Department of Pathology, University of Hong Kong SAR, China.

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http://dx.doi.org/10.1179/102453311X13127324303317DOI Listing
November 2011

A second observation of the rare frameshift mutation in the β-globin gene: codon 46 (+A) (Hbb:c.138_139insA).

Hemoglobin 2011 ;35(2):157-61

Laboratory of Biochemistry and Molecular Genetics, Henri Mondor Hospital (APHP), Creteil, France.

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http://dx.doi.org/10.3109/03630269.2011.557460DOI Listing
August 2011

Pathophysiology of sickle cell disease is mirrored by the red blood cell metabolome.

Blood 2011 Feb 6;117(6):e57-66. Epub 2010 Dec 6.

Commissariat à l'Energie Atomique/Direction du Sciences et du vivant/Institut de radiobiologie cellulaire et moléculaire/Laboratoire de Recherche sur la Réparation et la Transcription dans les Cellules Souches, Fontenay-aux-Roses, France.

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http://dx.doi.org/10.1182/blood-2010-07-299636DOI Listing
February 2011

Evaluation of the free α-hemoglobin pool in red blood cells: a new test providing a scale of β-thalassemia severity.

Am J Hematol 2011 Feb;86(2):199-202

Institut National de la Santé et de la Recherche Médicale, Université Paris XI, Le Kremlin-Bicêtre, France.

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http://dx.doi.org/10.1002/ajh.21918DOI Listing
February 2011

Identification of a new mutation on the beta-globin gene: codons 8/9 (+AGAA); GAG.AAG.TCT(Glu-Lys-Ser)>GAG. AAAGAAG, in a patient from the north of France with a phenotype of beta-thalassemia minor.

Hemoglobin 2010 ;34(4):389-93

Centre de Compétence Pour la Prise en Charge des Pathologies Erythrocytaires, Pôle de Biochimie et Biologie Moléculaire, Centre de Biologie-Pathologie, Centre Hospitalier Régional et Universitaire de Lille (CHRU), Lille, France.

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http://dx.doi.org/10.3109/03630269.2010.500937DOI Listing
October 2010

Alpha-hemoglobin stabilizing protein (AHSP), a kinetic scheme of the action of a human mutant, AHSPV56G.

J Biol Chem 2010 Jun 6;285(23):17986-92. Epub 2010 Apr 6.

INSERM U779, Université de Paris 7, 11 CHU Bicêtre, 78 rue du Général Leclerc, 94275 Le Kremlin-Bicêtre, France.

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http://dx.doi.org/10.1074/jbc.M109.098491DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2878560PMC
June 2010

Sickle cell disease in a carrier with pyruvate kinase deficiency.

Hematology 2008 Dec;13(6):369-72

Department of Molecular Medicine and Haematology, Wits University/NHLS, Johannesburg, South Africa.

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http://dx.doi.org/10.1179/102453308X343536DOI Listing
December 2008

A novel mutation of the beta-globin gene promoter (-102 C>A) and pitfalls in family screening.

Am J Hematol 2007 Dec;82(12):1088-90

Laboratory of Hematology, CHU of Montpellier, Montpellier, France.

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http://dx.doi.org/10.1002/ajh.21000DOI Listing
December 2007

Pyruvate kinase (PK) deficiency in newborns: the pitfalls of diagnosis.

J Pediatr 2007 Apr;150(4):443-5

Laboratoire de Biochimie Génétique et INSERM U 841 eq 11, Hôpital Henri Mondor, Créteil, France.

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http://dx.doi.org/10.1016/j.jpeds.2007.01.039DOI Listing
April 2007

Pyruvate kinase deficiency in France: a 3-year study reveals 27 new mutations.

Br J Haematol 2006 Jun;133(6):683-9

Laboratoire de Biochimie et de Génétique, AP-HP, Hôpital Henri-Mondor, Creteil, France.

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http://dx.doi.org/10.1111/j.1365-2141.2006.06076.xDOI Listing
June 2006

A one-step real-time PCR assay for rapid prenatal diagnosis of sickle cell disease and detection of maternal contamination.

Mol Diagn 2003 ;7(1):45-8

Laboratoire de Génétique Moléculaire, CHU Henri Mondor AP-HP, Créteil, France.

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September 2005

Severe hemolytic anemia in a Vietnamese family, associated with novel mutations in the gene encoding for pyruvate kinase.

Haematologica 2005 Jan;90(1):25-30

Laboratoire de Biochimie Génétique, AP-HP, et INSERM U468, Hôpital Henri Mondor 94010 Créteil, France.

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January 2005

HFE genotyping by amplification refractory mutation system-denaturing HPLC.

Clin Chem 2002 May;48(5):769-72

Laboratory of Biochemistry and Human Molecular Genetics and INSERM U 468, Hôpital Henri-Mondor, AP-HP, 51 Av du Maréchal de Lattre de Tassigny, 94010 Créteil, France.

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May 2002