Joly P - Search Results

1

Strategy for identification by mass spectrometry of a new human hemoglobin variant with two mutations in Cis in the beta-globin chain: Hb S-Clichy [beta6(A3)Glu-->Val; beta8(A5)Lys-->Thr].

Zanella-Cleon I, Préhu C, Joly P, Riou J, Becchi M, Wajcman H, Francina A. Zanella-Cleon I, et al. Among authors: joly p. Hemoglobin. 2009;33(3):177-87. doi: 10.1080/03630260903061184. Hemoglobin. 2009. PMID: 19657831

2

Two new alpha-thalassemia point mutations that are undetectable by biochemical techniques.

Joly P, Pégourie B, Courby S, Barro C, Besson G, Cohen L, Garcia C, Francina A. Joly P, et al. Hemoglobin. 2008;32(4):411-7. doi: 10.1080/03630260802173791. Hemoglobin. 2008. PMID: 18654892

3

Two new G gamma chain variants: Hb F-Saint-Etienne [G gamma 79(EF3)Asp-->His] and Hb F-Lyon [G gamma 97(FG4)His-->Arg].

Joly P, Lacan P, Garcia C, Berger C, Perier C, Barro C, Francina A. Joly P, et al. Hemoglobin. 2008;32(5):491-7. doi: 10.1080/03630260802341653. Hemoglobin. 2008. PMID: 18932075

4

Identification and molecular characterization of four new large deletions in the beta-globin gene cluster.

Joly P, Lacan P, Garcia C, Couprie N, Francina A. Joly P, et al. Blood Cells Mol Dis. 2009 Jul-Aug;43(1):53-7. doi: 10.1016/j.bcmd.2009.01.017. Epub 2009 Mar 9. Blood Cells Mol Dis. 2009. PMID: 19269866

5

Phenotype determination of hemoglobinopathies by mass spectrometry.

Zanella-Cleon I, Joly P, Becchi M, Francina A. Zanella-Cleon I, et al. Among authors: joly p. Clin Biochem. 2009 Dec;42(18):1807-17. doi: 10.1016/j.clinbiochem.2009.04.010. Epub 2009 May 4. Clin Biochem. 2009. PMID: 19409377 Review.

6

[A severe G6PD deficiency revealed during a chemotherapy protocol including rasburicase].

Joly P, Bon C, Francina A, Gelineau MC, Lacan P, Orfeuvre H. Joly P, et al. Ann Biol Clin (Paris). 2009 Jul-Aug;67(4):432-6. doi: 10.1684/abc.2009.0353. Ann Biol Clin (Paris). 2009. PMID: 19654083 Free article. French.

7

Description of two new alpha variants: Hb Canuts [alpha85(F6)Asp-->His (alpha1)] and Hb Ambroise Pare [alpha117(GH5)Phe-->Ile (alpha2)]; two new beta variants: Hb Beaujolais [beta84(EF8)Thr-->Asn] and Hb Monplaisir [beta147 (Tyr-Lys-Leu-Ala-Phe-Phe-Leu-Leu-Ser-Asn-Phe-Tyr-158-COOH)] and one new delta variant: Hb (A2)North Africa [delta59(E3)Lys-->Met].

Joly P, Lacan P, Bererd M, Garcia C, Zanella-Cleon I, Becchi M, Aubry M, Couprie N, Francina A. Joly P, et al. Hemoglobin. 2009;33(3):196-205. doi: 10.1080/03630260903058685. Hemoglobin. 2009. PMID: 19657833

8

Rapid genotyping of two common G6PD variants, African (A-) and Mediterranean, by high-resolution melting analysis.

Joly P, Lacan P, Garcia C, Martin C, Francina A. Joly P, et al. Clin Biochem. 2010 Jan;43(1-2):193-7. doi: 10.1016/j.clinbiochem.2009.09.012. Epub 2009 Sep 24. Clin Biochem. 2010. PMID: 19782058

9

A novel telomeric (approximately 285 kb) α-thalassemia deletion leading to a phenotypically unusual HbH disease.

Joly P, Lacan P, Labalme A, Bonhomme E, Sanlaville D, Francina A. Joly P, et al. Haematologica. 2010 May;95(5):850-1. doi: 10.3324/haematol.2009.018663. Epub 2009 Nov 30. Haematologica. 2010. PMID: 19951973 Free PMC article. No abstract available.

10

[Library of variants (LOV) v. 1.0: an help for the interpretation of the phenotypic haemoglobin data obtained with liquid chromatography Bio-Rad devices].

Joly P, Wajcman H, Francina A. Joly P, et al. Ann Biol Clin (Paris). 2010 Mar-Apr;68(2):254-6. doi: 10.1684/abc.2010.0423. Ann Biol Clin (Paris). 2010. PMID: 20348055 Free article. French.

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