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Items: 1 to 50 of 78

1.

Characterization and identification of Hb Bart's hydrops fetalis caused by a compound heterozygous mutation --SEA /--CR , a novel α0 -thalassemia deletion.

Ruengdit C, Panyasai S, Kunyanone N, Phornsiricharoenphant W, Ngamphiw C, Tongsima S, Sripichai O, Pissard S, Pornprasert S.

Int J Lab Hematol. 2020 Jan 13. doi: 10.1111/ijlh.13154. [Epub ahead of print] No abstract available.

PMID:
31943793
2.

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.

Wajcman H, de Brevern AG, Riou J, Latouche C, Marden MC, Pissard S.

Hemoglobin. 2018 Sep - Nov;42(5-6):287-293. doi: 10.1080/03630269.2018.1556683. Epub 2019 Jan 30.

PMID:
30700179
3.

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

Bianchi P, Fermo E, Glader B, Kanno H, Agarwal A, Barcellini W, Eber S, Hoyer JD, Kuter DJ, Maia TM, Mañu-Pereira MDM, Kalfa TA, Pissard S, Segovia JC, van Beers E, Gallagher PG, Rees DC, van Wijk R; with the endorsement of EuroBloodNet, the European Reference Network in Rare Hematological Diseases.

Am J Hematol. 2019 Jan;94(1):149-161. doi: 10.1002/ajh.25325. Epub 2018 Nov 28.

4.

Prognostic factors of disease severity in infants with sickle cell anemia: A comprehensive longitudinal cohort study.

Brousse V, El Hoss S, Bouazza N, Arnaud C, Bernaudin F, Pellegrino B, Guitton C, Odièvre-Montanié MH, Mames D, Brouzes C, Picard V, Nguyen-Khoa T, Pereira C, Lapouméroulie C, Pissard S, Gardner K, Menzel S, Le Van Kim C, Colin-Aronovicz Y, Buffet P, Mohandas N, Elie C, Maier-Redelsperger M, El Nemer W, de Montalembert M.

Am J Hematol. 2018 Nov;93(11):1411-1419. doi: 10.1002/ajh.25260. Epub 2018 Sep 21.

5.

Inherited or acquired modifiers of iron status may dramatically affect the phenotype in dehydrated hereditary stomatocytosis.

Orvain C, Da Costa L, Van Wijk R, Pissard S, Picard V, Mansour-Hendili L, Cunat S, Giansily-Blaizot M, Cartron G, Schved JF, Aguilar-Martinez P.

Eur J Haematol. 2018 Oct;101(4):566-569. doi: 10.1111/ejh.13135. Epub 2018 Aug 31.

PMID:
29969830
6.

[SaO2 and PaO2 mismatch: Do not forget hemoglobinopathy].

Virot E, Hirschi S, Oswald M, Degot T, Canuet M, Galoisy AC, Kiger L, Pissard S, Kessler R.

Rev Mal Respir. 2018 Mar;35(3):328-332. doi: 10.1016/j.rmr.2018.01.006. Epub 2018 Mar 24. French.

PMID:
29580615
7.

Biological impact of α genes, β haplotypes, and G6PD activity in sickle cell anemia at baseline and with hydroxyurea.

Bernaudin F, Arnaud C, Kamdem A, Hau I, Lelong F, Epaud R, Pondarré C, Pissard S.

Blood Adv. 2018 Mar 27;2(6):626-637. doi: 10.1182/bloodadvances.2017014555.

8.

Maternal consumption of quinine-containing sodas may induce G6PD crises in breastfed children.

Bichali S, Brault D, Masserot C, Boscher C, Couec ML, Deslandes G, Pissard S, Leverger G, Vauzelle C, Elefant E, Rozé JC, Cortey A, Chenouard A.

Eur J Pediatr. 2017 Oct;176(10):1415-1418. doi: 10.1007/s00431-017-2998-5. Epub 2017 Aug 21.

PMID:
28828525
9.

Elevated soluble α-hemoglobin pool in sickle cell anemia.

Vasseur C, Domingues-Hamdi E, Pakdaman S, Barau C, Pissard S, Le Corvoisier P, Pirenne F, Galactéros F, Baudin-Creuza V.

Am J Hematol. 2017 Oct;92(10):E593-E595. doi: 10.1002/ajh.24835. Epub 2017 Jul 24. No abstract available.

10.

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

Vasseur C, Domingues-Hamdi E, Ledudal K, Le Corvoisier P, Barau C, Ghaleh B, Rialland A, Pissard S, Galactéros F, Baudin-Creuza V.

Br J Haematol. 2017 Oct;179(1):142-153. doi: 10.1111/bjh.14800. Epub 2017 Jun 23.

PMID:
28643346
11.

Diagnostic approach to hemoglobins with high oxygen affinity: experience from France and Belgium and review of the literature.

Orvain C, Joly P, Pissard S, Badiou S, Badens C, Bonello-Palot N, Couque N, Gulbis B, Aguilar-Martinez P.

Ann Biol Clin (Paris). 2017 Feb 1;75(1):39-51. doi: 10.1684/abc.2016.1204. Review.

12.

Evidence for a gene conversion in a Hb Arya Carrier [α codon 47 Asp>Asn, Hb A1(or Hb A2):c.142 G>A].

Pécriaux A, Paillard C, Galoisy A, Riou J, Le Metayer N, Wajcman H, Pissard S.

Int J Lab Hematol. 2017 Jun;39(3):e55-e59. doi: 10.1111/ijlh.12609. Epub 2017 Jan 1. No abstract available.

PMID:
28042694
13.

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

Girard JM, Drevin G, Brasme JF, Pissard S, Reynier P, Simard G, Denis MC.

Ann Biol Clin (Paris). 2016 Dec 1;74(6):688-692.

14.

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

Harteveld CL, Pissard S, Korver AM, Riou J, Legac E, Lansbergen G, Pardijs IL, Giordano PC, Versteegh FG.

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

PMID:
27624280
15.

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

Tran Houangkeo TH, Bodereau V, Riou J, Pissard S.

Hemoglobin. 2016 Aug;40(4):267-9. doi: 10.1080/03630269.2016.1177539. Epub 2016 May 25.

PMID:
27221333
16.

The genetic basis of asymptomatic codon 8 frame-shift (HBB:c25_26delAA) β(0) -thalassaemia homozygotes.

Jiang Z, Luo HY, Huang S, Farrell JJ, Davis L, Théberge R, Benson KA, Riolueang S, Viprakasit V, Al-Allawi NA, Ünal S, Gümrük F, Akar N, Başak AN, Osorio L, Badens C, Pissard S, Joly P, Campbell AD, Gallagher PG, Steinberg MH, Forget BG, Chui DH.

Br J Haematol. 2016 Mar;172(6):958-65. doi: 10.1111/bjh.13909. Epub 2016 Jan 13.

17.

Amyl nitrite inhalation, a "volatile" anemia.

Filliatre L, Broséus J, Pissard S, Mekki C, Feugier P, Perrin J.

Am J Hematol. 2016 Jun;91(4):448. doi: 10.1002/ajh.24229. No abstract available.

18.

Haematological determinants of cardiac involvement in adults with sickle cell disease.

Damy T, Bodez D, Habibi A, Guellich A, Rappeneau S, Inamo J, Guendouz S, Gellen-Dautremer J, Pissard S, Loric S, Wagner-Ballon O, Godeau B, Adnot S, Dubois-Randé JL, Hittinger L, Galactéros F, Bartolucci P.

Eur Heart J. 2016 Apr 7;37(14):1158-1167. doi: 10.1093/eurheartj/ehv555. Epub 2015 Oct 29.

PMID:
26516176
19.

[Symptomatic extramedullary haematopoiesis in β-thalassemia: A retrospective single centre study].

Maazoun F, Gellen Dautremer J, Boutekadjirt A, Pissard S, Habibi A, Bachir D, Rahmouni A, Bartolucci P, Debbache K, Lagrange JL, Michel M, Galacteros F.

Rev Med Interne. 2016 Jan;37(1):5-12. doi: 10.1016/j.revmed.2015.07.005. Epub 2015 Sep 26. French.

PMID:
26410419
20.

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

Forestier A, Pissard S, Cretet J, Mambie A, Pascal L, Cliquennois M, Cambier N, Rose C.

Hemoglobin. 2015;39(6):438-41. doi: 10.3109/03630269.2015.1065882. Epub 2015 Jul 31.

PMID:
26291966
21.

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

Forestier A, Pissard S, Cretet J, Mambie A, Pascal L, Cliquennois M, Cambier N, Rose C.

Hemoglobin. 2015 Jul 31:1-4. [Epub ahead of print]

PMID:
26226898
22.

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

Muszlak M, Pissard S, Badens C, Chamouine A, Maillard O, Thuret I.

Hemoglobin. 2015;39(3):156-61. doi: 10.3109/03630269.2015.1023897. Epub 2015 Mar 25.

PMID:
25806420
23.

A genetic score for the prediction of beta-thalassemia severity.

Danjou F, Francavilla M, Anni F, Satta S, Demartis FR, Perseu L, Manca M, Sollaino MC, Manunza L, Mereu E, Marceddu G, Pissard S, Joly P, Thuret I, Origa R, Borg J, Forni GL, Piga A, Lai ME, Badens C, Moi P, Galanello R.

Haematologica. 2015 Apr;100(4):452-7. doi: 10.3324/haematol.2014.113886. Epub 2014 Dec 5.

24.

Confirmation of a founder effect in a Northern European population of a new β-globin variant: HBB:c.23_26dup (codons 8/9 (+AGAA)).

Marchi N, Pissard S, Cliquennois M, Vasseur C, Le Metayer N, Mereau C, Jouet JP, Georgel AF, Genin E, Rose C.

Eur J Hum Genet. 2015 Sep;23(9):1158-64. doi: 10.1038/ejhg.2014.263. Epub 2014 Dec 3.

25.

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

Gilad O, Dgany O, Noy-Lotan S, Krasnov T, Elitzur S, Pissard S, Kventsel I, Yacobovich J, Tamary H.

Hemoglobin. 2014;38(5):319-24. doi: 10.3109/03630269.2014.954668. Epub 2014 Sep 15.

PMID:
25222045
26.

Improvements in phenotype studies of hemoglobin disorders brought by advances in reversed-phase chromatography of globin chains.

Riou J, Pissard S, Goossens M, Wajcman H.

Int J Lab Hematol. 2015 Apr;37(2):279-86. doi: 10.1111/ijlh.12286. Epub 2014 Aug 11.

PMID:
25130136
27.

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

Aissa K, Kamoun F, Sfaihi L, Ghedira ES, Aloulou H, Kamoun T, Pissard S, Hachicha M.

Fetal Pediatr Pathol. 2014 Aug;33(4):234-8. doi: 10.3109/15513815.2014.915365. Epub 2014 May 19.

PMID:
24840153
28.

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

Callebaut I, Joubrel R, Pissard S, Kannengiesser C, Gérolami V, Ged C, Cadet E, Cartault F, Ka C, Gourlaouen I, Gourhant L, Oudin C, Goossens M, Grandchamp B, De Verneuil H, Rochette J, Férec C, Le Gac G.

Hum Mol Genet. 2014 Sep 1;23(17):4479-90. doi: 10.1093/hmg/ddu160. Epub 2014 Apr 8.

PMID:
24714983
29.

Homozygous Southeast Asian ovalocytosis is a severe dyserythropoietic anemia associated with distal renal tubular acidosis.

Picard V, Proust A, Eveillard M, Flatt JF, Couec ML, Caillaux G, Fénéant-Thibault M, Finkelstein A, Raphaël M, Delaunay J, Bruce LJ, Pissard S, Thomas C.

Blood. 2014 Mar 20;123(12):1963-5. doi: 10.1182/blood-2014-01-548149. No abstract available.

PMID:
24652967
30.

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

Pakdee N, Yamsri S, Fucharoen G, Sanchaisuriya K, Pissard S, Fucharoen S.

Blood Cells Mol Dis. 2014 Jun-Aug;53(1-2):11-5. doi: 10.1016/j.bcmd.2014.02.005. Epub 2014 Feb 26.

PMID:
24581976
32.

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

Shalev H, Landau D, Pissard S, Krasnov T, Kapelushnik J, Gilad O, Broides A, Dgany O, Tamary H.

Eur J Haematol. 2013 Feb;90(2):127-33. doi: 10.1111/ejh.12047. Epub 2013 Jan 7.

PMID:
23206178
33.

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

Joly P, Schluth-Bolard C, Lacan P, Barro C, Pissard S, Labalme A, Sanlaville D, Badens C.

Haematologica. 2013 Jan;98(1):e7-8. doi: 10.3324/haematol.2012.071167. Epub 2012 Oct 12. No abstract available.

34.

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

Pissard S, Raclin V, Lacan P, Garcia C, Aguilar-Martinez P, Francina A, Joly P.

Clin Chim Acta. 2013 Jan 16;415:35-40. doi: 10.1016/j.cca.2012.08.030. Epub 2012 Sep 7.

PMID:
22981786
35.

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

Bartolucci P, Brugnara C, Teixeira-Pinto A, Pissard S, Moradkhani K, Jouault H, Galacteros F.

Blood. 2012 Oct 11;120(15):3136-41. doi: 10.1182/blood-2012-04-424184. Epub 2012 Aug 23. Erratum in: Blood. 2014 Mar 20;123(12):1972.

36.

Estimation of the difference in HbF expression due to loss of the 5' δ-globin BCL11A binding region.

Ghedira ES, Lecerf L, Faubert E, Costes B, Moradkhani K, Bachir D, Galactéros F, Pissard S.

Haematologica. 2013 Feb;98(2):305-8. doi: 10.3324/haematol.2012.061994. Epub 2012 Jul 16.

37.

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

Jouanolle AM, Gérolami V, Ged C, Grandchamp B, Le Gac G, Pissard S, Rochette J, Aguilar-Martinez P.

Ann Biol Clin (Paris). 2012 May-Jun;70(3):305-13. doi: 10.1684/abc.2012.0704. French.

38.

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

So CC, Tang M, Li CH, Ha SY, Pissard S, Chan LC.

Hematology. 2011 Nov;16(6):377-9. doi: 10.1179/102453311X13127324303317.

PMID:
22183074
39.

Practical approach for characterization of glucose 6-phosphate dehydrogenase (G6PD) deficiency in countries with population ethnically heterogeneous: description of seven new G6PD mutants.

Moradkhani K, Mekki C, Bahuau M, Te VL, Holder M, Pissard S, Préhu C, Rose C, Wajcman H, Galactéros F.

Am J Hematol. 2012 Feb;87(2):208-10. doi: 10.1002/ajh.22218. Epub 2011 Dec 3.

40.

New variant of unclassified congenital dyserythropoietic anaemia: the concept of the erythroid regulator?

Gay J, Fournier M, Pierre-Eugène C, Fontenay M, Charpentier A, Mayeux P, Pissard S, Da Costa L, Beaumont C, Rose C.

Br J Haematol. 2012 Apr;157(1):148-51. doi: 10.1111/j.1365-2141.2011.08932.x. Epub 2011 Nov 11. No abstract available.

PMID:
22077468
41.

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

Wajcman H, Vasseur C, Pissard S, Baudin-Creuza V.

Hemoglobin. 2011;35(5-6):463-8. doi: 10.3109/03630269.2011.576354. Epub 2011 Sep 27.

PMID:
21950764
42.

Acquired alpha thalassemia myelodyslastic/myeloproliferative syndrome (ATMDS): evolution on hypomethylating agent therapy.

Rose C, Fournier M, Nibourel O, Herbaux C, Charpentier A, Renneville A, Pissard S, Badens C, Preudhomme C.

Leuk Res. 2011 Nov;35(11):e203-5. doi: 10.1016/j.leukres.2011.07.010. Epub 2011 Aug 9. No abstract available.

PMID:
21831427
43.

Variants in genetic modifiers of β-thalassemia can help to predict the major or intermedia type of the disease.

Badens C, Joly P, Agouti I, Thuret I, Gonnet K, Fattoum S, Francina A, Simeoni MC, Loundou A, Pissard S.

Haematologica. 2011 Nov;96(11):1712-4. doi: 10.3324/haematol.2011.046748. Epub 2011 Jul 26.

44.

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

Ghedira ES, Dupin-Deguine D, Duffilot D, Lemetayer N, Faubert E, Pissard S.

Hemoglobin. 2011;35(2):157-61. doi: 10.3109/03630269.2011.557460.

PMID:
21417574
45.

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

Vasseur C, Pissard S, Domingues-Hamdi E, Marden MC, Galactéros F, Baudin-Creuza V.

Am J Hematol. 2011 Feb;86(2):199-202. doi: 10.1002/ajh.21918.

46.

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

Darghouth D, Koehl B, Madalinski G, Heilier JF, Bovee P, Xu Y, Olivier MF, Bartolucci P, Benkerrou M, Pissard S, Colin Y, Galacteros F, Bosman G, Junot C, Roméo PH.

Blood. 2011 Feb 10;117(6):e57-66. doi: 10.1182/blood-2010-07-299636. Epub 2010 Dec 6.

PMID:
21135259
47.

A dyserythropoietic anemia associated with homozygous Hb Plasencia [α125(H8)Leu→Arg (α2)] (HBA2:c.377T>G), a variant with an unstable α chain.

Garçon L, Iolascon A, Pissard S, Esposito MR, Russo R, Fenneteau O, Fénéant-Thibault M, Heimpel H, Delaunay J.

Hemoglobin. 2010;34(6):576-81. doi: 10.3109/03630269.2010.526922.

PMID:
21077766
48.

[Flowcharts for the diagnosis and the molecular characterization of hemoglobinopathies].

Aguilar-Martinez P, Badens C, Bonello-Palot N, Cadet E, Couque N, Ducrocq R, Elion J, Francina A, Joly P, Pissard S, Rochette J; Réseay DHOS Pathologie héréditaire de l'érythrocyte.

Ann Biol Clin (Paris). 2010 Jul-Aug;68(4):455-64. doi: 10.1684/abc.2010.0457. French.

49.

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.

Georgel AF, Méreau C, Willekens C, Bourgeois E, Maboudou P, Crépin M, Pissard S, Rose C.

Hemoglobin. 2010;34(4):389-93. doi: 10.3109/03630269.2010.500937.

PMID:
20642337
50.

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

Brillet T, Baudin-Creuza V, Vasseur C, Domingues-Hamdi E, Kiger L, Wajcman H, Pissard S, Marden MC.

J Biol Chem. 2010 Jun 4;285(23):17986-92. doi: 10.1074/jbc.M109.098491. Epub 2010 Apr 6.

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