Joly P - Search Results

1

UGT1A1 (TA)n genotyping in sickle-cell disease: high resolution melting (HRM) curve analysis or direct sequencing, what is the best way?

Thomas V, Mazard B, Garcia C, Lacan P, Gagnieu MC, Joly P. Thomas V, et al. Among authors: joly p. Clin Chim Acta. 2013 Sep 23;424:258-60. doi: 10.1016/j.cca.2013.06.023. Epub 2013 Jul 1. Clin Chim Acta. 2013. PMID: 23827693 Free article.

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

[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.

6

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

7

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

8

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.

9

The XmnI (G)gamma polymorphism influences hemoglobin F synthesis contrary to BCL11A and HBS1L-MYB SNPs in a cohort of 57 beta-thalassemia intermedia patients.

Nguyen TK, Joly P, Bardel C, Moulsma M, Bonello-Palot N, Francina A. Nguyen TK, et al. Among authors: joly p. Blood Cells Mol Dis. 2010 Aug 15;45(2):124-7. doi: 10.1016/j.bcmd.2010.04.002. Epub 2010 May 15. Blood Cells Mol Dis. 2010. PMID: 20472475

10

Two new hemoglobin variants: Hb Aix-Les-Bains [β5(A2)Pro→Leu; HBB:c.17 C>T] and Hb Dubai [α122(H5)His→Leu (α2); HBA2:c.368 A>T].

Joly P, Garcia C, Lacan P, Couprie N, Francina A. Joly P, et al. Hemoglobin. 2011;35(2):147-51. doi: 10.3109/03630269.2010.550795. Hemoglobin. 2011. PMID: 21417572

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

964 results

Search Page

Filters