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. A New Intergenic α-Globin Deletion (α–αΔ125) Found in a Kabyle Population. (3rd March 2016) Authors: Rabbind Singh, Amrathlal; Lacan, Philippe; Cadet, Estelle; Bignet, Patricia; Dumesnil, Cécile; Vannier, Jean-Pierre; Joly, Philippe; Rochette, Jacques Journal: Hemoglobin Issue: Volume 40:Number 2(2016) Page Start: 108 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A Particular SORL1 Micro-haplotype May Prevent Severe Liver Disease in a French Cohort of Alpha 1-Antitrypsin-deficient Children. Issue 3 (12th September 2021) Authors: Joly, Philippe; Ruiz, Mathias; Garin, Roman; Karatas, Esra; Lachaux, Alain; Restier, Lioara; Belmalih, Abdelouahed; Renoux, Céline; Lombard, Christine; Dechomet, Magali; Bouchecareilh, Marion Journal: Journal of pediatric gastroenterology and nutrition Issue: Volume 73:Issue 3(2021) Page Start: e68 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A Particular SORL1 Micro-haplotype May Prevent Severe Liver Disease in a French Cohort of Alpha 1-Antitrypsin-deficient Children. Issue 3 (September 2021) Authors: Joly, Philippe; Ruiz, Mathias; Garin, Roman; Karatas, Esra; Lachaux, Alain; Restier, Lioara; Belmalih, Abdelouahed; Renoux, Céline; Lombard, Christine; Dechomet, Magali; Bouchecareilh, Marion Journal: Journal of pediatric gastroenterology and nutrition Issue: Volume 73:Issue 3(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Alpha‐thalassaemia promotes frequent vaso‐occlusive crises in children with sickle cell anaemia through haemorheological changes. Issue 8 (18th January 2017) Authors: Renoux, Céline; Connes, Philippe; Nader, Elie; Skinner, Sarah; Faes, Camille; Petras, Marie; Bertrand, Yves; Garnier, Nathalie; Cuzzubbo, Daniela; Divialle‐Doumdo, Lydia; Kebaïli, Kamila; Renard, Cécile; Gauthier, Alexandra; Etienne‐Julan, Maryse; Cannas, Giovanna; Martin, Cyril; Hardy‐Dessources... Journal: Pediatric blood & cancer Issue: Volume 64:Issue 8(2017) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. An Additional Case of Hb Saint Nazaire [β103(G5)Phe→Ile; HBB: c.310T>A] Leading to Moderate Erythrocytosis in a French Family. (2nd January 2019) Authors: Bobée, Victor; Feugray, Guillaume; Brunel, Valéry; Joly, Philippe; Lahary, Agnès Journal: Hemoglobin Issue: Volume 43:Number 1(2019) Page Start: 50 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 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) ↗
8. Clinical severity and blood rheology in patients with sickle cell anaemia and co‐existing autoimmune disease. (22nd December 2022) Authors: Poutrel, Solène; Boisson, Camille; Nader, Elie; Renoux, Céline; Virot, Emilie; Catella, Judith; Marie, Manon; Hot, Arnaud; Cannas, Giovanna; Bertrand, Yves; Joly, Philippe; Connes, Catherine; Merazga, Salima; Gauthier, Alexandra; Connes, Philippe Journal: British journal of haematology Issue: Volume 200:Number 3(2023) Page Start: e28 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Clinically relevant updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Issue Volume 49:Issue D1(2021) (30th October 2020) Authors: Giardine, Belinda M; Joly, Philippe; Pissard, Serge; Wajcman, Henri; K. Chui, David H; Hardison, Ross C; Patrinos, George P Journal: Nucleic acids research Issue: Volume 49:Issue D1(2021) Page Start: D1192 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Combined and differential effects of alpha‐thalassemia and HbF‐quantitative trait loci in Senegalese hydroxyurea‐free children with sickle cell anemia. Issue 10 (19th July 2019) Authors: Gueye Tall, Fatou; Martin, Cyril; Ndour, El Hadji Malick; Renoux, Céline; Ly, Indou Déme; Connes, Philippe; Gueye, Papa Madieye; Diallo, Rokhaya Ndiaye; Diagne, Ibrahima; Diop, Pape Amadou; Cissé, Aynina; Lopez Sall, Philomène; Joly, Philippe Journal: Pediatric blood & cancer Issue: Volume 66:Issue 10(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗