Pissard S - Search Results

1

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. Ghedira ES, et al. Among authors: pissard s. Hemoglobin. 2011;35(2):157-61. doi: 10.3109/03630269.2011.557460. Hemoglobin. 2011. PMID: 21417574

2

Triose phosphate isomerase deficiency in 3 French families: two novel null alleles, a frameshift mutation (TPI Alfortville) and an alteration in the initiation codon (TPI Paris).

Valentin C, Pissard S, Martin J, Héron D, Labrune P, Livet MO, Mayer M, Gelbart T, Schneider A, Max-Audit I, Cohen-Solal M. Valentin C, et al. Among authors: pissard s. Blood. 2000 Aug 1;96(3):1130-5. Blood. 2000. PMID: 10910933 Free article.

3

Molecular analysis of beta-thalassemia in South Vietnam.

Le TH, Pissard S, Pham HV, Lacombe C, Truong DH, Goossens M, Truong DK. Le TH, et al. Among authors: pissard s. Hemoglobin. 2001 Aug;25(3):305-9. doi: 10.1081/hem-100105223. Hemoglobin. 2001. PMID: 11570723

4

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.

Jacquette A, Le Roux G, Lacombe C, Goossens M, Pissard S. Jacquette A, et al. Among authors: pissard s. Hemoglobin. 2004 Aug;28(3):243-8. doi: 10.1081/hem-120040304. Hemoglobin. 2004. PMID: 15481893

5

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]).

Préhu C, Pissard S, Al-Sheikh M, Le Niger C, Bachir D, Galactéros F, Wajcman H. Préhu C, et al. Among authors: pissard s. Hemoglobin. 2005;29(3):229-33. doi: 10.1081/hem-200066335. Hemoglobin. 2005. PMID: 16114188

6

Rapid detection of beta-Thalassemia alleles in Egypt using naturally or amplified created restriction sites and direct sequencing: a step in disease control.

Hussein G, Fawzy M, Serafi TE, Ismail EF, Metwally DE, Saber MA, Giansily M, Schved JF, Pissard S, Martinez PA. Hussein G, et al. Among authors: pissard s. Hemoglobin. 2007;31(1):49-62. doi: 10.1080/03630260601057088. Hemoglobin. 2007. PMID: 17365005

7

A novel (epsilongammadeltabeta)(o)-thalassemia deletion associated with an alpha globin gene triplication leading to a severe transfusion dependent fetal thalassemic syndrome.

Rose C, Rossignol J, Lambilliotte A, Depret S, Le Metayer N, Pissard S. Rose C, et al. Among authors: pissard s. Haematologica. 2009 Apr;94(4):593-4. doi: 10.3324/haematol.2008.002675. Epub 2009 Mar 13. Haematologica. 2009. PMID: 19286882 Free PMC article. No abstract available.

8

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. Georgel AF, et al. Among authors: pissard s. Hemoglobin. 2010;34(4):389-93. doi: 10.3109/03630269.2010.500937. Hemoglobin. 2010. PMID: 20642337

9

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. Garçon L, et al. Among authors: pissard s. Hemoglobin. 2010;34(6):576-81. doi: 10.3109/03630269.2010.526922. Hemoglobin. 2010. PMID: 21077766

10

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

Wajcman H, Vasseur C, Pissard S, Baudin-Creuza V. Wajcman H, et al. Among authors: pissard s. Hemoglobin. 2011;35(5-6):463-8. doi: 10.3109/03630269.2011.576354. Epub 2011 Sep 27. Hemoglobin. 2011. PMID: 21950764

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