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Page 1
Newborn Screening for Sickle Cell Disease in Catalonia between 2015 and 2022-Epidemiology and Impact on Clinical Events.
González de Aledo-Castillo JM, Argudo-Ramírez A, Beneitez-Pastor D, Collado-Gimbert A, Almazán Castro F, Roig-Bosch S, Andrés-Masó A, Ruiz-Llobet A, Pedrals-Portabella G, Medina-Santamaria D, Nadal-Rey G, Espigares-Salvia M, Coll-Sibina MT, Algar-Serrano M, Torrent-Español M, Leoz-Allegretti P, Rodríguez-Pebé A, García-Bernal M, Solà-Segura E, García-Gallego A, Prats-Viedma B, López-Galera RM, Paredes-Fuentes AJ, Pajares García S, Delgado-López G, Blanco-Álvarez A, Tazón-Vega B, Díaz de Heredia C, Mañú-Pereira MDM, Marín-Soria JL, García-Villoria J, Velasco-Puyó P, On Behalf Of The Sickle Cell Disease Newborn Screening Group Of Catalonia. González de Aledo-Castillo JM, et al. Among authors: manu pereira mdm. Int J Neonatal Screen. 2024 Oct 3;10(4):69. doi: 10.3390/ijns10040069. Int J Neonatal Screen. 2024. PMID: 39449357 Free PMC article.
Limited access to transcranial Doppler screening and stroke prevention for children with sickle cell disease in Europe: Results of a multinational EuroBloodNet survey.
Voi V, Gutierrez-Valle V, Cuzzubbo D, McMahon C, Casale M, Mañú Pereira MDM, D'Agnolo M, Inusa BPD, de Montalembert M, Colombatti R. Voi V, et al. Among authors: manu pereira mdm. Pediatr Blood Cancer. 2024 Oct;71(10):e31190. doi: 10.1002/pbc.31190. Epub 2024 Jul 10. Pediatr Blood Cancer. 2024. PMID: 38984411
Diagnosis and management of pyruvate kinase deficiency: international expert guidelines.
Al-Samkari H, Shehata N, Lang-Robertson K, Bianchi P, Glenthøj A, Sheth S, Neufeld EJ, Rees DC, Chonat S, Kuo KHM, Rothman JA, Barcellini W, van Beers EJ, Pospíšilová D, Shah AJ, van Wijk R, Glader B, Mañú Pereira MDM, Andres O, Kalfa TA, Eber SW, Gallagher PG, Kwiatkowski JL, Galacteros F, Lander C, Watson A, Elbard R, Peereboom D, Grace RF. Al-Samkari H, et al. Among authors: manu pereira mdm. Lancet Haematol. 2024 Mar;11(3):e228-e239. doi: 10.1016/S2352-3026(23)00377-0. Epub 2024 Feb 5. Lancet Haematol. 2024. PMID: 38330977 Review.
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. Mañú Pereira MDM, et al. Lancet Haematol. 2023 Aug;10(8):e687-e694. doi: 10.1016/S2352-3026(23)00182-5. Epub 2023 Jul 11. Lancet Haematol. 2023. PMID: 37451300 Review.
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. Collado A, et al. Among authors: manu pereira mdm. Hemasphere. 2023 Feb 22;7(3):e844. doi: 10.1097/HS9.0000000000000844. eCollection 2023 Mar. Hemasphere. 2023. PMID: 36844183 Free PMC article. No abstract available.
The use of next-generation sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper.
Roy NBA, Da Costa L, Russo R, Bianchi P, Mañú-Pereira MDM, Fermo E, Andolfo I, Clark B, Proven M, Sanchez M, van Wijk R, van der Zwaag B, Layton M, Rees D, Iolascon A; British Society for Haematology/ European Hematology Association. Roy NBA, et al. Among authors: manu pereira mdm. Br J Haematol. 2022 Aug;198(3):459-477. doi: 10.1111/bjh.18191. Epub 2022 Jun 6. Br J Haematol. 2022. PMID: 35661144 No abstract available.
Southeast Asian ovalocytosis detected in a critical patient with COVID-19 pneumonia.
Moreno-Castaño AB, Diaz-Ricart M, Escolar G, García E, Mañú-Pereira MDM, Idrizovic A, Matute M, Molina A, Faneca J, Merino A. Moreno-Castaño AB, et al. Among authors: manu pereira mdm. Int J Lab Hematol. 2022 Oct;44(5):e215-e218. doi: 10.1111/ijlh.13878. Epub 2022 May 17. Int J Lab Hematol. 2022. PMID: 35580896 Free PMC article. No abstract available.
The International Hemoglobinopathy Research Network (INHERENT): An international initiative to study the role of genetic modifiers in hemoglobinopathies.
Kountouris P, Stephanou C, Archer N, Bonifazi F, Giannuzzi V, Kuo KHM, Maggio A, Makani J, Mañú-Pereira MDM, Michailidou K, Nkya S, Nnodu OE, Trompeter S, Tshilolo L, Wonkam A, Zilfalil BA, Inusa BPD, Kleanthous M; on behalf of the International Hemoglobinopathy Research Network (INHERENT). Kountouris P, et al. Among authors: manu pereira mdm. Am J Hematol. 2021 Nov 1;96(11):E416-E420. doi: 10.1002/ajh.26323. Epub 2021 Aug 30. Am J Hematol. 2021. PMID: 34406671 Free PMC article. No abstract available.
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. Rizzuto V, et al. Among authors: manu pereira mdm. Front Physiol. 2021 Feb 5;12:628236. doi: 10.3389/fphys.2021.628236. eCollection 2021. Front Physiol. 2021. PMID: 33613322 Free PMC article.
16 results