1. 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. (February 2015) Authors: Renoux, Céline; Feray, Cécile; Joly, Philippe; Zanella-Cleon, Isabelle; Garcia, Caroline; Lacan, Philippe; Couprie, Nicole; Francina, Alain Journal: Hemoglobin Issue: Volume 39:Number 1(2015) Page Start: 46 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical heterogeneity and potential high pathogenicity of the Mmalton Alpha 1 antitrypsin allele at the homozygous, compound heterozygous and heterozygous states. Issue 1 (December 2015) Authors: Joly, Philippe; Guillaud, Olivier; Hervieu, Valérie; Francina, Alain; Mornex, Jean-François; Chapuis-Cellier, Colette Journal: Orphanet journal of rare diseases Issue: Volume 9:Issue 1(2014) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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. (February 2014) Authors: Joly, Philippe; Lacan, Philippe; Garcia, Caroline; Francina, Alain Journal: Hemoglobin Issue: Volume 38:Number 1(2014) Page Start: 64 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Description of Three New α Variants and Four New β Variants: Hb Montluel [α110(G17)Ala → Val; HBA1: c.332C > T], Hb Cap d'Agde [α131(H14)Ser → Cys; HBA2: c.395C > G] and Hb Corsica [α100(G7)Leu → Pro; HBA1: 302T > C]; Hb Nîmes [β104(G6)Arg → Gly; HBB: c.313A > G], Hb Saint Marcellin [β112(G14)Cys → Gly; HBB: c.337T > G], Hb Saint Chamond [β80(EF4)Asn → 0; HBB: c.241_243delAAC] and Hb Dompierre [β29(B11)Gly → Arg; HBB: c.88G > C]. (June 2015) Authors: Renoux, Céline; Feray, Cécile; Joly, Philippe; Lacan, Philippe; Francina, Alain Journal: Hemoglobin Issue: Volume 39:Number 3(2015) Page Start: 147 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. G6PD deficiency and absence of α‐thalassemia increase the risk for cerebral vasculopathy in children with sickle cell anemia. (30th June 2015) Authors: Joly, Philippe; Garnier, Nathalie; Kebaili, Kamila; Renoux, Céline; Dony, Arthur; Cheikh, Nathalie; Renard, Cécile; Ceraulo, Antony; Cuzzubbo, Daniela; Pondarré, Corinne; Martin, Cyril; Pialoux, Vincent; Francina, Alain; Bertrand, Yves; Connes, Philippe Journal: European journal of haematology Issue: Volume 96:Number 4(2016:Apr.) Page Start: 404 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Massive haemolysis and methaemalbuminaemia in a patient with decompensated haemoglobin H disease. (9th August 2013) Authors: Joly, Philippe; Richard Colmant, Gaëlle; Varennes, Annie; Francina, Alain; Coppéré, Brigitte; Delacour, Hervé Journal: British journal of haematology Issue: Volume 163:Number 1(2013:Oct.) Page Start: 2 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. SERPINA1 and MAN1B1 polymorphisms are not linked to severe liver disease in a French cohort of alpha‐1 antitrypsin deficiency children. (15th September 2017) Authors: Joly, Philippe; Lachaux, Alain; Ruiz, Mathias; Restier, Lioara; Belmalih, Abdelhouaed; Chapuis‐Cellier, Colette; Francina, Alain; Renoux, Céline; Bouchecareilh, Marion Journal: Liver international Issue: Volume 37:Number 11(2017) Page Start: 1608 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Two Complex Associations of an HBD Mutation and a Rare α Hemoglobinopathy. (October 2013) Authors: Joly, Philippe; Lacan, Philippe; Garcia, Caroline; Francina, Alain Journal: Hemoglobin Issue: Volume 37:Number 5(2013) Page Start: 486 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Two New δ-Globin Gene Variants: Hb A2-Saint-Etienne [δ14(A11)Leu→Pro (HBD: c.44T>C)] and Hb A2-Marseille [δ22(B4) Ala→Lys (HBD: c.67G>A;68C>A)]. (February 2013) Authors: Joly, Philippe; Lacan, Philippe; Garcia, Caroline; Desbrée, Aurélie; Couprie, Nicole; Francina, Alain Journal: Hemoglobin Issue: Volume 37:Number 1(2013) Page Start: 80 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗