Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

18 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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. Horgan D, et al. Among authors: manu pereira mdm. Biomed Hub. 2020 Jul 17;5(2):1-11. doi: 10.1159/000509272. eCollection 2020 May-Aug. Biomed Hub. 2020. PMID: 33564657 Free PMC article.
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.
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.
Red Blood Cell Membrane Conductance in Hereditary Haemolytic Anaemias.
Petkova-Kirova P, Hertz L, Danielczok J, Huisjes R, Makhro A, Bogdanova A, Mañú-Pereira MDM, Vives Corrons JL, van Wijk R, Kaestner L. Petkova-Kirova P, et al. Among authors: manu pereira mdm. Front Physiol. 2019 Apr 16;10:386. doi: 10.3389/fphys.2019.00386. eCollection 2019. Front Physiol. 2019. PMID: 31040790 Free PMC article.
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 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.
A Previously Unrecognized Ca2+-inhibited Nonselective Cation Channel in Red Blood Cells.
Petkova-Kirova P, Hertz L, Makhro A, Danielczok J, Huisjes R, Llaudet-Planas E, Mañú-Pereira MDM, Vives Corrons JL, van Wijk R, Bogdanova A, Kaestner L. Petkova-Kirova P, et al. Among authors: manu pereira mdm. Hemasphere. 2018 Oct;2(5):e146. doi: 10.1097/HS9.0000000000000146. Epub 2018 Oct 2. Hemasphere. 2018. PMID: 30887009 Free PMC article.
18 results