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Items: 1 to 50 of 113

1.

SERPINA1 and MAN1B1 polymorphisms are not linked to severe liver disease in a French cohort of alpha-1 antitrypsin deficiency children.

Joly P, Lachaux A, Ruiz M, Restier L, Belmalih A, Chapuis-Cellier C, Francina A, Renoux C, Bouchecareilh M.

Liver Int. 2017 Nov;37(11):1608-1611. doi: 10.1111/liv.13586. Epub 2017 Sep 15.

PMID:
28887821
2.

Hypermethylation of 28S ribosomal RNA in β-thalassemia trait carriers.

Sornjai W, Lithanatudom P, Erales J, Joly P, Francina A, Hacot S, Fucharoen S, Svasti S, Diaz JJ, Mertani HC, Smith DR.

Int J Biol Macromol. 2017 Jan;94(Pt A):728-734. doi: 10.1016/j.ijbiomac.2016.10.039. Epub 2016 Oct 17.

PMID:
27765567
3.

Clinical heterogeneity and potential high pathogenicity of the Mmalton Alpha 1 antitrypsin allele at the homozygous, compound heterozygous and heterozygous states.

Joly P, Guillaud O, Hervieu V, Francina A, Mornex JF, Chapuis-Cellier C.

Orphanet J Rare Dis. 2015 Oct 7;10:130. doi: 10.1186/s13023-015-0350-6.

4.

[DEFI-ALPHA cohort and POLYGEN DEFI-ALPHA clinical research hospital programme. A study about clinical, biological and genetics factors associated with the occurrence and the evolution of hepatic complications in children with alpha-1 antitrypsin deficiency].

Joly P, Restier L, Bouchecareilh M, Lacan P, Cabet F, Chapuis-Cellier C, Francina A, Lachaux A.

Rev Mal Respir. 2015 Sep;32(7):759-67. doi: 10.1016/j.rmr.2015.06.010. Epub 2015 Aug 1. French.

PMID:
26238925
6.

G6PD deficiency and absence of α-thalassemia increase the risk for cerebral vasculopathy in children with sickle cell anemia.

Joly P, Garnier N, Kebaili K, Renoux C, Dony A, Cheikh N, Renard C, Ceraulo A, Cuzzubbo D, Pondarré C, Martin C, Pialoux V, Francina A, Bertrand Y, Connes P.

Eur J Haematol. 2016 Apr;96(4):404-8. doi: 10.1111/ejh.12607. Epub 2015 Jun 30.

PMID:
26072930
7.

A new hemoglobin variant: Hb Meylan [β73(E17)Asp → Phe; HBB: c.220G>T; c.221A>T] with a double base mutation at the same codon.

Renoux C, Feray C, Joly P, Zanella-Cleon I, Garcia C, Lacan P, Couprie N, Francina A.

Hemoglobin. 2015;39(1):46-8. doi: 10.3109/03630269.2014.982760. Epub 2014 Dec 5.

PMID:
25476778
8.

Description of the phenotypes of 63 heterozygous, homozygous and compound heterozygous patients carrying the Hb Groene Hart [α119(H2)Pro→Ser; HBA1: c.358C>T] variant.

Joly P, Lacan P, Garcia C, Francina A.

Hemoglobin. 2014;38(1):64-6. doi: 10.3109/03630269.2013.834264. Epub 2013 Oct 10.

PMID:
24111644
9.

Molecular characterization of 7 new alpha-1 anti-trypsin (A1AT) variants including two with an associated deficient phenotype.

Joly P, Lacan P, Chapuis-Cellier C, Garcia C, Bererd M, Francina A.

Clin Chim Acta. 2014 Jan 1;427:21-2. doi: 10.1016/j.cca.2013.09.017. Epub 2013 Sep 29. No abstract available.

PMID:
24084503
10.

Massive haemolysis and methaemalbuminaemia in a patient with decompensated haemoglobin H disease.

Joly P, Richard Colmant G, Varennes A, Francina A, Coppéré B, Delacour H.

Br J Haematol. 2013 Oct;163(1):2. doi: 10.1111/bjh.12499. Epub 2013 Aug 9. No abstract available.

PMID:
23931827
11.

Two complex associations of an HBD mutation and a rare α hemoglobinopathy.

Joly P, Lacan P, Garcia C, Francina A.

Hemoglobin. 2013;37(5):486-91. doi: 10.3109/03630269.2013.806331. Epub 2013 Jun 27.

PMID:
23806011
12.

Two new δ-globin gene variants: Hb A(2)-Saint-Etienne [δ14(A11)Leu→Pro (HBD: c.44T>C)] and Hb A(2)-Marseille [δ22(B4) Ala→Lys (HBD: c.67G>A;68C>A)].

Joly P, Lacan P, Garcia C, Desbrée A, Couprie N, Francina A.

Hemoglobin. 2013;37(1):80-4. doi: 10.3109/03630269.2012.749275. Epub 2012 Dec 11.

PMID:
23227922
13.

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
14.

A new Frameshift mutation on the α2-globin gene causing α⁺-thalassemia: codon 43 (TTC>-TC or TTC>T-C).

Joly P, Lacan P, Garcia C, Barro C, Francina A.

Hemoglobin. 2012;36(5):508-10.

PMID:
22738776
15.

Human induced pluripotent stem cells can reach complete terminal maturation: in vivo and in vitro evidence in the erythropoietic differentiation model.

Kobari L, Yates F, Oudrhiri N, Francina A, Kiger L, Mazurier C, Rouzbeh S, El-Nemer W, Hebert N, Giarratana MC, François S, Chapel A, Lapillonne H, Luton D, Bennaceur-Griscelli A, Douay L.

Haematologica. 2012 Dec;97(12):1795-803. doi: 10.3324/haematol.2011.055566. Epub 2012 Jun 24.

16.

Effects of regular physical activity on skeletal muscle structural, energetic, and microvascular properties in carriers of sickle cell trait.

Vincent L, Oyono-Enguéllé S, Féasson L, Banimbek V, Dohbobga M, Martin C, Thiriet P, Francina A, Dubouchaud H, Sanchez H, Chapot R, Denis C, Geyssant A, Messonnier L.

J Appl Physiol (1985). 2012 Aug 15;113(4):549-56. doi: 10.1152/japplphysiol.01573.2011. Epub 2012 Jun 14.

17.

Genotypic screening of the main opiate-related polymorphisms in a cohort of 139 sickle cell disease patients.

Joly P, Gagnieu MC, Bardel C, Francina A, Pondarre C, Martin C.

Am J Hematol. 2012 May;87(5):534-6. doi: 10.1002/ajh.23137. Epub 2012 Mar 19.

18.

Effect of α-thalassaemia on exercise-induced oxidative stress in sickle cell trait.

Faёs C, Martin C, Chirico EN, Féasson L, Oyonno-Enguelle S, Dubouchaud H, Francina A, Thiriet P, Pialoux V, Messonnier L.

Acta Physiol (Oxf). 2012 Aug;205(4):541-50. doi: 10.1111/j.1748-1716.2012.02434.x. Epub 2012 Apr 10.

PMID:
22409225
19.

Exercise training blunts oxidative stress in sickle cell trait carriers.

Chirico EN, Martin C, Faës C, Féasson L, Oyono-Enguéllé S, Aufradet E, Dubouchaud H, Francina A, Canet-Soulas E, Thiriet P, Messonnier L, Pialoux V.

J Appl Physiol (1985). 2012 May;112(9):1445-53. doi: 10.1152/japplphysiol.01452.2011. Epub 2012 Feb 9.

20.

Protein characterization by LC-MS/MS may be required for the DNA identification of a fusion hemoglobin: the example of Hb P-Nilotic.

Zanella-Cleon I, Delolme F, Lacan P, Garcia C, Vinatier I, Francina A, Joly P.

J Chromatogr B Analyt Technol Biomed Life Sci. 2012 Feb 1;883-884:172-6. doi: 10.1016/j.jchromb.2011.10.017. Epub 2011 Oct 25.

PMID:
22100554
21.

[Place of genotyping in addition to the phenotype and the assay of serum α-1 antitrypsin].

Joly P, Francina A, Lacan P, Heraut J, Chapuis-Cellier C.

Ann Biol Clin (Paris). 2011 Sep-Oct;69(5):571-6. doi: 10.1684/abc.2011.0613. French.

22.

The alpha-globin genotype does not influence sickle cell disease severity in a retrospective cross-validation study of the pediatric severity score.

Joly P, Pondarré C, Bardel C, Francina A, Martin C.

Eur J Haematol. 2012 Jan;88(1):61-7. doi: 10.1111/j.1600-0609.2011.01705.x. Epub 2011 Nov 15.

PMID:
21910753
23.

A novel deletion/insertion caused by a replication error in the β-globin gene locus control region.

Joly P, Lacan P, Garcia C, Meley R, Pondarré C, Francina A.

Hemoglobin. 2011;35(4):316-22. doi: 10.3109/03630269.2011.571331.

PMID:
21797698
24.

Association of a glucose-6-phosphate deficiency and a Gilbert syndrome as risk factors for a severe choledocholithiasis in a 2-month-old male infant.

Rivet C, Caron N, Lachaux A, Morel B, Pracros JP, Francina A, Gagnieu MC, Joly P.

Pediatr Blood Cancer. 2012 Feb;58(2):316. doi: 10.1002/pbc.23261. Epub 2011 Jul 25. No abstract available.

PMID:
21793186
25.

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.

26.

[Abnormal hemoglobins with high oxygen affinity in the differential diagnosis of polycythemia].

Esparcieux A, Francina A, Vital-Durand D.

Rev Med Interne. 2011 Oct;32(10):e105-7. doi: 10.1016/j.revmed.2010.11.006. Epub 2011 Apr 20. French.

PMID:
21511372
27.

Rapid and reliable β-globin gene cluster haplotyping of sickle cell disease patients by FRET Light Cycler and HRM assays.

Joly P, Lacan P, Garcia C, Delasaux A, Francina A.

Clin Chim Acta. 2011 Jun 11;412(13-14):1257-61. doi: 10.1016/j.cca.2011.03.025. Epub 2011 Apr 1.

PMID:
21440534
28.

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach.

Giardine B, Borg J, Higgs DR, Peterson KR, Philipsen S, Maglott D, Singleton BK, Anstee DJ, Basak AN, Clark B, Costa FC, Faustino P, Fedosyuk H, Felice AE, Francina A, Galanello R, Gallivan MV, Georgitsi M, Gibbons RJ, Giordano PC, Harteveld CL, Hoyer JD, Jarvis M, Joly P, Kanavakis E, Kollia P, Menzel S, Miller W, Moradkhani K, Old J, Papachatzopoulou A, Papadakis MN, Papadopoulos P, Pavlovic S, Perseu L, Radmilovic M, Riemer C, Satta S, Schrijver I, Stojiljkovic M, Thein SL, Traeger-Synodinos J, Tully R, Wada T, Waye JS, Wiemann C, Zukic B, Chui DH, Wajcman H, Hardison RC, Patrinos GP.

Nat Genet. 2011 Mar 20;43(4):295-301. doi: 10.1038/ng.785.

29.

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.

Hemoglobin. 2011;35(2):147-51. doi: 10.3109/03630269.2010.550795.

PMID:
21417572
30.

A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia.

Arnaud L, Saison C, Helias V, Lucien N, Steschenko D, Giarratana MC, Prehu C, Foliguet B, Montout L, de Brevern AG, Francina A, Ripoche P, Fenneteau O, Da Costa L, Peyrard T, Coghlan G, Illum N, Birgens H, Tamary H, Iolascon A, Delaunay J, Tchernia G, Cartron JP.

Am J Hum Genet. 2010 Nov 12;87(5):721-7. doi: 10.1016/j.ajhg.2010.10.010. Epub 2010 Nov 4.

31.

Severe β-thalassemia intermedia in a compound heterozygous patient for the -30 (T>A) β(+)-thalassemia mutation and the δ(0)β(+)-Senegalese deletion.

Griffon C, Joly P, Sénéchal A, Philit F, Francina A.

Hemoglobin. 2010;34(5):505-8. doi: 10.3109/03630269.2010.509230.

PMID:
20854126
32.

[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.

33.

Hb Charlieu [alpha106(G13)Leu-->Pro (alpha1)]: a new phenotypically silent hemoglobin variant associated with a mild alpha-thalassemia phenotype.

Joly P, Szymanowicz A, Neyron MJ, Zine A, Wajcman H, Francina A.

Hemoglobin. 2010;34(4):366-73. doi: 10.3109/03630269.2010.486350.

PMID:
20642334
34.

Red blood cell generation from human induced pluripotent stem cells: perspectives for transfusion medicine.

Lapillonne H, Kobari L, Mazurier C, Tropel P, Giarratana MC, Zanella-Cleon I, Kiger L, Wattenhofer-Donzé M, Puccio H, Hebert N, Francina A, Andreu G, Viville S, Douay L.

Haematologica. 2010 Oct;95(10):1651-9. doi: 10.3324/haematol.2010.023556. Epub 2010 May 21.

35.

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.

Blood Cells Mol Dis. 2010 Aug 15;45(2):124-7. doi: 10.1016/j.bcmd.2010.04.002. Epub 2010 May 15.

PMID:
20472475
36.

Habitual physical activity and endothelial activation in sickle cell trait carriers.

Aufradet E, Monchanin G, Oyonno-Engelle S, Feasson L, Messonnier L, Francina A, Bezin L, Serpero LD, Gozal D, Dodogba M, Wouassi D, Banimbeck V, Djoda B, Thiriet P, Martin C.

Med Sci Sports Exerc. 2010 Nov;42(11):1987-94. doi: 10.1249/MSS.0b013e3181e054d6.

PMID:
20386338
37.

[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.

Ann Biol Clin (Paris). 2010 Mar-Apr;68(2):254-6. doi: 10.1684/abc.2010.0423. French.

38.

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.

Haematologica. 2010 May;95(5):850-1. doi: 10.3324/haematol.2009.018663. Epub 2009 Nov 30. No abstract available.

39.

Special issue: hemoglobin disorders.

Wajcman H, Francina A.

Clin Biochem. 2009 Dec;42(18):1743-4. doi: 10.1016/j.clinbiochem.2009.10.016. No abstract available.

PMID:
19942028
40.

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.

Clin Biochem. 2010 Jan;43(1-2):193-7. doi: 10.1016/j.clinbiochem.2009.09.012. Epub 2009 Sep 24.

PMID:
19782058
42.

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.

Hemoglobin. 2009;33(3):177-87. doi: 10.1080/03630260903061184.

PMID:
19657831
43.

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

Joly P, Bon C, Francina A, Gelineau MC, Lacan P, Orfeuvre H.

Ann Biol Clin (Paris). 2009 Jul-Aug;67(4):432-6. doi: 10.1684/abc.2009.0353. French.

44.

Phenotype determination of hemoglobinopathies by mass spectrometry.

Zanella-Cleon I, Joly P, Becchi M, Francina A.

Clin Biochem. 2009 Dec;42(18):1807-17. doi: 10.1016/j.clinbiochem.2009.04.010. Epub 2009 May 4. Review.

PMID:
19409377
45.

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.

Blood Cells Mol Dis. 2009 Jul-Aug;43(1):53-7. doi: 10.1016/j.bcmd.2009.01.017. Epub 2009 Mar 9.

PMID:
19269866
46.

Plasma levels of adhesion molecules ICAM-1 and VCAM-1 in athletes with sickle cell trait with or without alpha-thalassemia during endurance exercise and recovery.

Monchanin G, Serpero LD, Connes P, Tripette J, Wouassi D, Francina A, Massarelli R, Gozal D, Thiriet P, Martin C.

Clin Hemorheol Microcirc. 2008;40(2):89-97.

PMID:
19029634
47.

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.

Hemoglobin. 2008;32(5):491-7. doi: 10.1080/03630260802341653.

PMID:
18932075
48.

Hb Gerland [alpha 55(E4)Val-->Ala]: a mutation found on the alpha1-globin gene.

Moradkhani K, Riou J, Francina A, Wajcman H, Prehu C.

Hemoglobin. 2008;32(5):478-84. doi: 10.1080/03630260802341638.

PMID:
18932073
49.

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.

Hemoglobin. 2008;32(4):411-7. doi: 10.1080/03630260802173791.

PMID:
18654892
50.

Detection of a thalassemic alpha-chain variant (Hemoglobin Groene Hart) by reversed-phase liquid chromatography.

Zanella-Cleon I, Becchi M, Lacan P, Giordano PC, Wajcman H, Francina A.

Clin Chem. 2008 Jun;54(6):1053-9. doi: 10.1373/clinchem.2007.097857. Epub 2008 Apr 17.

PMID:
18420733

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