| Hypoparathyroidism in adults with iron overload diseases (IOD): evidence of a subclinical phenotype. | De Vincentis S, Evangelisti S, Rossi B, Decaroli MC, Locaso M, Ansaloni A, Ferrara F, Corradini E, Pietrangelo A, Rochira V | 2024-12-04 | Calcium/phosphorous ratio, Hemochromatosis, Hyperphosphatemia, Hypocalcemia, Parathyroid, Thalassemia | Endocrine |
| Impact of thrombocytopenia-associated c.-118C>T and c.-140C>G ANKRD26 5'UTR variants in three-generational pedigree. | Trizuljak J, Likavcová P, Staňo Kozubík K, Vrzalová Z, Hynšt J, Deissová T, Štika J, Radová L, Prudková M, Vaculová J, Blaháková I, Smejkal P, Kamelander J, Pospíšilová Š, Doubek M | 2024-12-01 | ANKRD26 gene, Inherited thrombocytopenia, functional analysis, platelet aggregation, platelets | Platelets |
| Prognostic significance of mutation type and chromosome fragility in Fanconi anemia. | Ramírez MJ, Pujol R, Minguillón J, Bogliolo M, Persico I, Cavero D, de la Cal A, Río P, Navarro S, Casado JA, Bailador A, de la Fuente AS, de Heredia ML, Almazán F, Antelo ML, Argilés B, Badell I, Baragaño M, Beléndez C, Bermúdez M, Bernués M, Buedo MI, Carrasco E, Català A, Costa D, Cuesta I, Fernandez-Delgado R, Fernández-Teijeiro A, Figuera Á, García M, Gondra A, González M, Muñiz SG, Hernández-Rodríguez I, Ibañez F, Kelleher NJ, Lendínez F, López M, López-Almaraz R, Marchante I, Mendoza C, Nieto J, Ojeda E, Payán-Pernía S, Peláez I, de Soto IP, Portugal R, Ramos-Arroyo MA, Regueiro A, Rodríguez A, Rosell J, Saez R, Sánchez J, Sánchez M, Senent M, Tapia M, Trujillo-Quintero JP, Vagace JM, Verdú-Amorós J, Verdugo V, Vidales I, Villarreal J, Díaz-de-Heredia C, Sevilla J, Bueren JA, Surrallés J | 2024-11-19 | | American journal of hematology |
| Role of fractional exhaled nitric oxide in patients with sickle cell disease. | Muñoz-Cutillas A, Bellón-Alonso S, Bardón-Cancho E, Rodríguez-Tubío-Dapena S, Díez-Llamazares L, Rodríguez-Fernández R, Rodríguez-Cimadevilla JL | 2024-09-27 | Airway obstruction, Asma, Asthma, Enfermedad de células falciformes, Enfermedad pulmonar, Fracción exhalada de óxido nítrico, Fractional exhaled nitric oxide testing, Lung disease, Lung function tests, Obstrucción de la vía aérea, Pruebas de función pulmonar, Sickle cell | Anales de pediatria |
| Telomere biology disorders: from dyskeratosis congenita and beyond. | Roka K, Solomou E, Kattamis A, Stiakaki E | 2024-08-29 | dyskeratosis congenita, hematological manifestations, idiopathic pulmonary fibrosis, liver cirrhosis, telomere biology disorders, telomere syndromes | Postgraduate medical journal |
| Correction to: Spanish registry of hemoglobinopathies and rare anemias (REHem- AR): demographics, complications, and management of patients with β-thalassemia. | Bardón-Cancho EJ, Marco-Sánchez JM, Benéitez-Pastor D, Payán-Pernía S, Llobet AR, Berrueco R, García-Morin M, Beléndez C, Senent L, Acosta MJO, Pleguezuelos IP, Velasco P, Collado A, Moreno-Carbonell M, Argilés B, de Soto IP, Del Mar Bermúdez M, Salido Fiérrez EJ, Blanco-Álvarez A, Navarro PG, Cela E | 2024-06-21 | | Annals of hematology |
| Evaluation of ChatGPT as a Counselling Tool for Italian-Speaking MASLD Patients: Assessment of Accuracy, Completeness and Comprehensibility. | Pugliese N, Polverini D, Lombardi R, Pennisi G, Ravaioli F, Armandi A, Buzzetti E, Dalbeni A, Liguori A, Mantovani A, Villani R, Gardini I, Hassan C, Valenti L, Miele L, Petta S, Sebastiani G, Aghemo A, Nafld Expert Chatbot Working Group | 2024-05-26 | MASLD, artificial intelligence, chatbot, counselling, diet, physical activity, steatosis | Journal of personalized medicine |
| Haemoglobinopathies and other rare anemias in Spain: ten years of a nationwide registry (REHem-AR). | Marco Sánchez JM, Bardón Cancho EJ, Benéitez D, Payán-Pernía S, Collado Gimbert A, Ruiz-Llobet A, Salinas JA, Sebastián E, Argilés B, Bermúdez M, Vázquez MÁ, Ortega MJ, López Rubio M, Gondra A, Uriz JJ, Morado M, Coll MT, López Duarte M, Baro M, Cervera Á, Recasens V, García Blanes C, Del Carcavilla MP, Tallon M, González Espín A, Olteanu Olteanu FC, González P, Del Mañú Pereira MM, Cela E | 2024-05-20 | Hemoglobinopathies, Nationwide registry, Rare anaemias | Annals of hematology |
| Spanish registry of hemoglobinopathies and rare anemias (REHem-AR): demographics, complications, and management of patients with β-thalassemia. | Bardón-Cancho EJ, Marco-Sánchez JM, Benéitez-Pastor D, Payán-Pernía S, Llobet AR, Berrueco R, García-Morin M, Beléndez C, Senent L, Acosta MJO, Pleguezuelos IP, Velasco P, Collado A, Moreno-Servet M, Argilés B, de Soto IP, Del Mar Bermúdez M, Salido Fiérrez EJ, Blanco-Álvarez A, Navarro PG, Cela E | 2024-05-01 | Anemia, Complications, Hemoglobinopathies, Registry, Spain, Thalassemia | Annals of hematology |
| Haemochromatosis in children: A national retrospective cohort promoted by the A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica) study group. | Corti P, Ferrari GM, Faraguna MC, Capitoli G, Longo F, Corradini E, Casini T, Boscarol G, Pinto VM, Ghilardi R, Russo G, Colombatti R, Mariani R, Piperno A | 2024-01-01 | haemochromatosis, hyperferritinaemia, iron chelation, juvenile haemochromatosis, phlebotomy | British journal of haematology |
| Sickle cell disease: embedding patient participation into an international conference can transform the role of lived experience. | Pellegrini M, Chakravorty S, Del Mar Manu Pereira M, Gulbis B, Gilmour-Hamilton C, Hayes S, de Montalembert M, Inusa BPD, Colombatti R, Roy NB | 2023-11-01 | International congress, Patient education, Patient therapeutic education, Patients workshop, Public patients involvement in Research, Sickle cell disease | Orphanet journal of rare diseases |
| Specialist training in thrombosis and haemostasis across Europe: From aspirations to actions. | Dargaud Y, Fontana P, Fenaux P, Hermans C | 2023-09-01 | | Haemophilia : the official journal of the World Federation of Hemophilia |
| Sickle cell disease landscape and challenges in the EU: the ERN-EuroBloodNet perspective. | Mañú Pereira MDM, Colombatti R, Alvarez F, Bartolucci P, Bento C, Brunetta AL, Cela E, Christou S, Collado A, de Montalembert M, Dedeken L, Fenaux P, Galacteros F, Glenthøj A, Gutiérrez Valle V, Kattamis A, Kunz J, Lobitz S, McMahon C, Pellegrini M, Reidel S, Russo G, Santos Freire M, van Beers E, Kountouris P, Gulbis B | 2023-08-01 | | The Lancet. Haematology |
| Labile plasma iron and echocardiographic parameters are associated with cardiac events in β-thalassemic patients. | Ferrara F, Coppi F, Riva R, Ventura P, Ricci A, Mattioli AV, Talarico M, Garuti C, Bevini M, Rochira V, Buzzetti E, Pietrangelo A, Corradini E | 2023-05-01 | anaemia, cardiac complications, iron, labile plasma iron, myocardial hypertrophy, non-transferrin-bound iron, thalassemia | European journal of clinical investigation |
| Ischemic stroke in a pediatric patient with very rare coexistence of sickle-cell/β-thalassemia and neurofibromatosis type 1. | Roka K, Solomou E, Glentis S, Gavra M, Kokkinou E, Rigatou E, Pons R, Kattamis A | 2023-04-14 | | Pediatric blood & cancer |
| Challenges and Opportunities of Precision Medicine in Sickle Cell Disease: Novel European Approach by GenoMed4All Consortium and ERN-EuroBloodNet. | Collado A, Boaro MP, van der Veen S, Idrizovic A, Biemond BJ, Beneitez Pastor D, Ortuño A, Cela E, Ruiz-Llobet A, Bartolucci P, de Montalembert M, Castellani G, Biondi R, Manara R, Sanavia T, Fariselli P, Kountouris P, Kleanthous M, Alvarez F, Zazo S, Colombatti R, van Beers EJ, Mañú-Pereira MDM | 2023-03-01 | | HemaSphere |
| Iron Metabolism in the Disorders of Heme Biosynthesis. | Ricci A, Di Betto G, Bergamini E, Buzzetti E, Corradini E, Ventura P | 2022-08-31 | X-linked sideroblastic anemia, acute hepatic porphyrias, congenital hereditary porphyria, congenital sideroblastic anemias, erythropoiesis, erythropoietic protoporphyria, heme, iron, porphyria, porphyria cutanea tarda | Metabolites |
| Iron in Porphyrias: Friend or Foe? | Buzzetti E, Ventura P, Corradini E | 2022-01-21 | anemia, heme, hepcidin, iron, porphyrias | Diagnostics (Basel, Switzerland) |
| Reply to: "Ceruloplasmin variants might have different effects in different iron overload disorders". | Corradini E, Valenti LV | 2021-10-01 | Ceruloplasmin, Gene variants, Hyperferritinemia, Liver iron overload, Non-alcoholic fatty liver disease | Journal of hepatology |
| Primary vitreoretinal lymphoma: short review of the literature, results of a European survey and French guidelines of the LOC network for diagnosis, treatment and follow-up. | Malaise D, Houillier C, Touitou V, Choquet S, Maloum K, Le Garff-Tavernier M, Davi F, Vincent-Salomon A, Feuvret L, Hoang-Xuan K, Cassoux N, Soussain C | 2021-09-01 | | Current opinion in oncology |
| Ceruloplasmin gene variants are associated with hyperferritinemia and increased liver iron in patients with NAFLD. | Corradini E, Buzzetti E, Dongiovanni P, Scarlini S, Caleffi A, Pelusi S, Bernardis I, Ventura P, Rametta R, Tenedini E, Tagliafico E, Fracanzani AL, Fargion S, Pietrangelo A, Valenti LV | 2021-09-01 | ceruloplasmin, ferritin, iron, next generation sequencing, non-alcoholic fatty liver disease | Journal of hepatology |
| Combining microfluidics with machine learning algorithms for RBC classification in rare hereditary hemolytic anemia. | Rizzuto V, Mencattini A, Álvarez-González B, Di Giuseppe D, Martinelli E, Beneitez-Pastor D, Mañú-Pereira MDM, Lopez-Martinez MJ, Samitier J | 2021-06-30 | | Scientific reports |
| Changing patterns of thalassaemia in Italy: a WebThal perspective. | Longo F, Corrieri P, Origa R, Barella S, Sanna PMG, Bitti PP, Zuccarelli A, Commendatore FV, Vitucci A, Quarta A, Lisi R, Cappellini MD, Massei F, Forni GL, Piga A | 2021-05-01 | | Blood transfusion = Trasfusione del sangue |
| Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases. | Rizzuto V, Koopmann TT, Blanco-Álvarez A, Tazón-Vega B, Idrizovic A, Díaz de Heredia C, Del Orbe R, Pampliega MV, Velasco P, Beneitez D, Santen GWE, Waisfisz Q, Elting M, Smiers FJW, de Pagter AJ, Kerkhoffs JH, Harteveld CL, Mañú-Pereira MDM | 2021-01-01 | dominant beta-thalassemia, next generation sequencing, rare anemia disorders, unstable hemoglobinopathies, whole exome sequencing | Frontiers in physiology |
| Genetic iron overload disorders. | Corradini E, Buzzetti E, Pietrangelo A | 2020-10-01 | Ferroportin disease, Genetics, Hemochromatosis, Hyperferritinemia, Iron overload | Molecular aspects of medicine |
| Risk factors for vascular liver diseases: Vascular liver diseases: position papers from the francophone network for vascular liver diseases, the French Association for the Study of the Liver (AFEF), and ERN-rare liver. | Soret J, Debray D, Fontbrune FS, Kiladjian JJ, Saadoun D, Latour RP, Valla D, Hernandez-Gea V, Hillaire S, Dutheil D, Plessier A, Bureau C, De Raucourt E | 2020-09-01 | Behçet's disease, Thrombosis, Vascular liver disease | Clinics and research in hepatology and gastroenterology |
| Time for Change? The Why, What and How of Promoting Innovation to Tackle Rare Diseases - Is It Time to Update the EU's Orphan Regulation? And if so, What Should be Changed? | Horgan D, Moss B, Boccia S, Genuardi M, Gajewski M, Capurso G, Fenaux P, Gulbis B, Pellegrini M, Mañú Pereira MDM, Gutiérrez Valle V, Gutiérrez Ibarluzea I, Kent A, Cattaneo I, Jagielska B, Belina I, Tumiene B, Ward A, Papaluca M | 2020-05-01 | Access, Biomarkers, Biosimilars, Challenges, Citizens, Data, Diagnostics, Empowerment, European Commission, Incentives, Inequality, Member states, Orphan regulation, Patient, Patients, Personalised healthcare, Rare disease, Regulatory, Reimbursement, Treatment, Ultra-rare disease, Unmet need | Biomedicine hub |
| Management of the aging beta-thalassemia transfusion-dependent population - The Italian experience. | Pinto VM, Poggi M, Russo R, Giusti A, Forni GL | 2019-11-01 | Anemia, Hemoglobinopathy, Iron chelation, Iron overload, Thalassemia, Transfusion | Blood reviews |
