المؤلفون: Panayiota L. Papasavva, Konstantinos Kaouranis, Stefania Byrou, Constantina G. Constantinou, Iacovou Efrosini, Marina Kleanthous, Carsten W. Lederer, Thessalia Papasavva

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: diamond-blackfan anemia syndrome, whole exome sequencing, next generation sequencing, bone marrow failure syndrome, data analysis, filtering, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1459291/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/e1847ccec28649a092a2857cfeb4783f

المؤلفون: Basma Naiisseh, Panayiota L. Papasavva, Nikoletta Y. Papaioannou, Marios Tomazou, Lola Koniali, Xenia Felekis, Constantina G. Constantinou, Maria Sitarou, Soteroula Christou, Marina Kleanthous, Carsten W. Lederer, Petros Patsali

المصدر: Molecular Therapy: Nucleic Acids, Vol 35, Iss 2, Pp 102183- (2024)

مصطلحات موضوعية: MT: RNA/DNA editing, CRISPR/Cas9, gene therapy, hemoglobinopathies, β-thalassemia, near-PAMless, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2162253124000702; https://doaj.org/toc/2162-2531

URL الوصول: https://doaj.org/article/b91282ff2bb6418eb5eea22e8d27f4eb

المؤلفون: Coralea Stephanou, Miranda Petrou, Petros Kountouris, Christiana Makariou, Soteroula Christou, Michael Hadjigavriel, Marina Kleanthous, Thessalia Papasavva

المصدر: Biomedicines, Vol 12, Iss 2, p 296 (2024)

مصطلحات موضوعية: β-thalassemia intermedia, HBB, 5′UTR, silent variant, genotype/phenotype correlation, Biology (General), QH301-705.5

Relation: https://www.mdpi.com/2227-9059/12/2/296; https://doaj.org/toc/2227-9059; https://doaj.org/article/602ef8c19edc49abad13e789fc66f16f

الاتاحة: https://doi.org/10.3390/biomedicines12020296
https://doaj.org/article/602ef8c19edc49abad13e789fc66f16f

المؤلفون: Petros Kountouris, Coralea Stephanou, Maxwell Nwegbu, Obiageli Nnodu, Morohuntodun Oni, Natasha Archer, Leon Tshilolo, Bin Alwi Zilfalil, Kyriaki Michailidou, Viviana Giannuzzi, Fedele Bonifazi, Marina Kleanthous

المصدر: HemaSphere, Vol 7, p e22097c3 (2023)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: http://journals.lww.com/10.1097/01.HS9.0000976760.22097.c3; https://doaj.org/toc/2572-9241

URL الوصول: https://doaj.org/article/72fe500010074d889b99ecfca556b470

المؤلفون: José Martín Solórzano González, Sara Isabel Reidel, Ines Labidi, Claire Diot Lefebvre, Stella Tamana, Victoria Gutierrez Valle, Eduard van Beers, Raffaella Colombatti, Paola Bianchi, Angelo Loris Brunetta, Dore Peereboom, Frédéric Galactéros, Giovanna Russo, Antonis Kattamis, Laurence Dedeken, Joachim Kunz, Elena Cela, Celeste Bento, Ulf Tedgard, Andreas Glenthøj, Soteroula Christou, Marina Kleanthous, Petros Kountouris, Beatrice Gulbis, Maria Del Mar Mañú Pereira

المصدر: HemaSphere, Vol 7, p e13208ab (2023)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: http://journals.lww.com/10.1097/01.HS9.0000972592.13208.ab; https://doaj.org/toc/2572-9241

URL الوصول: https://doaj.org/article/dda4d76b94d94600b11ff5e166a87910

المؤلفون: Maria Xenophontos, Anna Minaidou, Coralea Stephanou, Stella Tamana, Marina Kleanthous, Petros Kountouris

المصدر: HemaSphere, Vol 7, Iss 7, p e922 (2023)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: http://journals.lww.com/10.1097/HS9.0000000000000922; https://doaj.org/toc/2572-9241

URL الوصول: https://doaj.org/article/9622015736184bd8893784b123aeb29f

المؤلفون: Stefania Byrou, George Christopoulos, Agathoklis Christofides, Christiana Makariou, Christiana Ioannou, Marina Kleanthous, Thessalia Papasavva

المصدر: Thalassemia Reports, Vol 12, Iss 3, Pp 55-72 (2022)

مصطلحات موضوعية: haplotyping, chromosomal phasing, prenatal diagnosis, β-thalassaemia, droplet digital PCR, SNVs, Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2039-4365/12/3/11; https://doaj.org/toc/2039-4365

URL الوصول: https://doaj.org/article/37e765c92ede425494f5ae533a04228f

المؤلفون: Lola Koniali, Christina Flouri, Markela I. Kostopoulou, Nikoletta Y. Papaioannou, Panayiota L. Papasavva, Basma Naiisseh, Coralea Stephanou, Anthi Demetriadou, Maria Sitarou, Soteroula Christou, Michael N. Antoniou, Marina Kleanthous, Petros Patsali, Carsten W. Lederer

المصدر: Cells, Vol 12, Iss 24, p 2848 (2023)

مصطلحات موضوعية: gene therapy, RNA interference, shRNAmiR, lentiviral vector, hemoglobinopathy, thalassemia, Cytology, QH573-671

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4409/12/24/2848; https://doaj.org/toc/2073-4409

URL الوصول: https://doaj.org/article/ced4c48ca6ed44b9a025e89953ea0fe4

المؤلفون: Nikoletta Y. Papaioannou, Petros Patsali, Basma Naiisseh, Panayiota L. Papasavva, Lola Koniali, Ryo Kurita, Yukio Nakamura, Soteroula Christou, Maria Sitarou, Claudio Mussolino, Toni Cathomen, Marina Kleanthous, Carsten W. Lederer

المصدر: Frontiers in Genome Editing, Vol 5 (2023)

مصطلحات موضوعية: in vitro transcription, mRNA, genome editing, hematopoietic, CRISPR/Cas, base editor, Biotechnology, TP248.13-248.65, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgeed.2023.1141618/full; https://doaj.org/toc/2673-3439

URL الوصول: https://doaj.org/article/0fbfbdfb3fde4f0eb2824e45f9241f24

المؤلفون: Anna Collado, Maria Paola Boaro, Sigrid van der Veen, Amira Idrizovic, Bart J. Biemond, David Beneitez Pastor, Ana Ortuño, Elena Cela, Anna Ruiz-Llobet, Pablo Bartolucci, Marianne de Montalembert, Gastone Castellani, Riccardo Biondi, Renzo Manara, Tiziana Sanavia, Piero Fariselli, Petros Kountouris, Marina Kleanthous, Federico Alvarez, Santiago Zazo, Raffaella Colombatti, Eduard J. van Beers, María del Mar Mañú-Pereira

المصدر: HemaSphere, Vol 7, Iss 3, p e844 (2023)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: http://journals.lww.com/10.1097/HS9.0000000000000844; https://doaj.org/toc/2572-9241

URL الوصول: https://doaj.org/article/530e1091e12141999d0341769ca491eb

المؤلفون: Stella Tamana, Maria Xenophontos, Anna Minaidou, Coralea Stephanou, Cornelis L Harteveld, Celeste Bento, Joanne Traeger-Synodinos, Irene Fylaktou, Norafiza Mohd Yasin, Faidatul Syazlin Abdul Hamid, Ezalia Esa, Hashim Halim-Fikri, Bin Alwi Zilfalil, Andrea C Kakouri, ClinGen Hemoglobinopathy Variant Curation Expert Panel, Marina Kleanthous, Petros Kountouris

المصدر: eLife, Vol 11 (2022)

مصطلحات موضوعية: variant classification, in silico prediction, haemoglobinopathies, globin genes, thalassaemia, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://elifesciences.org/articles/79713; https://doaj.org/toc/2050-084X

URL الوصول: https://doaj.org/article/685e2a791891446ba71327c90bbdab61

المؤلفون: Anna Minaidou, Stella Tamana, Coralea Stephanou, Maria Xenophontos, Cornelis L. Harteveld, Celeste Bento, Marina Kleanthous, Petros Kountouris

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 24; Pages: 15920

مصطلحات موضوعية: haemoglobinopathies, copy number variants (CNVs), MLPA

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms232415920

الاتاحة: https://doi.org/10.3390/ijms232415920

المؤلفون: Ekati Drakopoulou, Maria Georgomanoli, Carsten Lederer, Fottes Panetsos, Marina Kleanthous, Ersi Voskaridou, Dimitrios Valakos, Eleni Papanikolaou, Nicholas Anagnou

المصدر: Viruses; Volume 14; Issue 12; Pages: 2716

مصطلحات موضوعية: sickle cell disease, thalassemia, globin gene therapy, γ-globin lentiviral vector, HbF, HPFH enhancers, 117 HPFH type, CD34 + hematopoietic stem cells

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Viral Immunology, Vaccines, and Antivirals; https://dx.doi.org/10.3390/v14122716

الاتاحة: https://doi.org/10.3390/v14122716

المؤلفون: Bin Hashim Halim-Fikri, Carsten W. Lederer, Atif Amin Baig, Siti Nor Assyuhada Mat-Ghani, Sharifah-Nany Rahayu-Karmilla Syed-Hassan, Wardah Yusof, Diana Abdul Rashid, Nurul Fatihah Azman, Suthat Fucharoen, Ramdan Panigoro, Catherine Lynn T. Silao, Vip Viprakasit, Norunaluwar Jalil, Norafiza Mohd Yasin, Rosnah Bahar, Veena Selvaratnam, Norsarwany Mohamad, Nik Norliza Nik Hassan, Ezalia Esa, Amanda Krause, Helen Robinson, Julia Hasler, Coralea Stephanou, Raja-Zahratul-Azma Raja-Sabudin, Jacques Elion, Ghada El-Kamah, Domenico Coviello, Narazah Yusoff, Zarina Abdul Latiff, Chris Arnold, John Burn, Petros Kountouris, Marina Kleanthous, Raj Ramesar, Bin Alwi Zilfalil, on behalf of the Global Globin Network (GGN) on behalf of the Global Globin Network (GGN)

المصدر: Journal of Personalized Medicine; Volume 12; Issue 4; Pages: 552

مصطلحات موضوعية: Global Globin Network, haemoglobinopathy, thalassaemia, low- and middle-income countries, epidemiology, disease burden, prevention program, Hemoglobinopathy VCEP, Human Variome Project

وصف الملف: application/pdf

Relation: Methodology, Drug and Device Discovery; https://dx.doi.org/10.3390/jpm12040552

الاتاحة: https://doi.org/10.3390/jpm12040552

المؤلفون: Panayiota L. Papasavva, Petros Patsali, Constantinos C. Loucari, Ryo Kurita, Yukio Nakamura, Marina Kleanthous, Carsten W. Lederer

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 3; Pages: 1082

مصطلحات موضوعية: gene tagging, cell/tissue-type-specific gene therapy, γ-globin induction, hemoglobinopathies, BCL11A, erythroid-specific, HUDEP-2 cells, CD34+ cells

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Biology; https://dx.doi.org/10.3390/ijms23031082

الاتاحة: https://doi.org/10.3390/ijms23031082

المؤلفون: Carsten W. Lederer, Lola Koniali, Tina Buerki-Thurnherr, Panayiota L. Papasavva, Stefania La Grutta, Amelia Licari, Frantisek Staud, Donato Bonifazi, Marina Kleanthous

المصدر: Pharmaceutics, Vol 14, Iss 4, p 793 (2022)

مصطلحات موضوعية: gene therapy, somatic cell therapy, tissue-engineered medicinal product, CAR T cell, CAR NK cell, hematopoietic stem and progenitor cell, Pharmacy and materia medica, RS1-441

Relation: https://www.mdpi.com/1999-4923/14/4/793; https://doaj.org/toc/1999-4923; https://doaj.org/article/97d5f2e8335b4771b8dfd82dbf43a3a7

الاتاحة: https://doi.org/10.3390/pharmaceutics14040793
https://doaj.org/article/97d5f2e8335b4771b8dfd82dbf43a3a7

المؤلفون: Coralea Stephanou, C, Petros Kountouris, P, Carsten W Lederer, C, Celeste Bento, C, Cornelis L Hartveld, C, Jan Traeger-Synodinos, J, John S Waye, J, Zhiyu Peng, Z, Irene Fylaktou, I, Hashim Halim-Fikri, H, Tamara T. Koopmann, T, Landry Nfonsam, L, Jun Sun, J, Franck Nzengu-Lukusa, F, Michael Angastiniotis, M, Catherine Badens, C, Bertha Ibarra Cortes, B, Johan T. den Dunnen, J, Jacques Elion, J, Suthat Fucharoen, S, Kyriaki Michailidou, K, Thessalia Papasavva, T, Antonio Piga, A, Raj Ramesar, R, Swee Lay Thein, S, Léon Tshilolo, L, Zilfalil Bin Alwi, Z, Marina Kleanthous, M

المصدر: HemaSphere ; volume 6, page 34-35 ; ISSN 2572-9241

الاتاحة: http://dx.doi.org/10.1097/01.hs9.0000821632.18626.46
https://journals.lww.com/10.1097/01.HS9.0000821632.18626.46

المؤلفون: Thierry Jaffredo, Alessandra Balduini, Anna Bigas, Rosa Bernardi, Dominique Bonnet, Bruno Canque, Pierre Charbord, Anna Cumano, Ruud Delwel, Charles Durand, Willem Fibbe, Lesley Forrester, Lucia de Franceschi, Cedric Ghevaert, Bjørn Gjertsen, Berthold Gottgens, Thomas Graf, Olaf Heidenreich, Olivier Hermine, Douglas Higgs, Marina Kleanthous, Hannes Klump, Valerie Kouskoff, Daniela Krause, George Lacaud, Cristina Lo Celso, Joost H.A. Martens, Simón Méndez-Ferrer, Pablo Menendez, Robert Oostendorp, Sjaak Philipsen, Bo Porse, Marc Raaijmakers, Catherine Robin, Henk Stunnenberg, Kim Theilgaard-Mönch, Ivo Touw, William Vainchenker, Joan-Lluis Vives Corrons, Laurent Yvernogeau, Jan Jacob Schuringa

المصدر: HemaSphere, Vol 5, Iss 12, p e669 (2021)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: http://journals.lww.com/10.1097/HS9.0000000000000669; https://doaj.org/toc/2572-9241

URL الوصول: https://doaj.org/article/b92def9715344d93ad65db2c745664f9

المؤلفون: Hashim, Halim-Fikri, Ninie Nadia, Zulkiplii, Hafza, Alauddin, Celestea, Bento, Carsten, W Lederer, Petros, Kountouris, Marina, Kleanthous, Yetti, Hernaningsih, Thong, Meow Keong, Muhammad Hamdi, Mahmood, Norafiza, Mohd Yasin, Ezalia, Esa, Jacques, Elion, Domenico, Coviello, Raja Zahratul Azma, Raja Sabudin, Ghada, El-Kamah, John, Burn, Narazah, Mohd Yusoff, Raj, Ramesar, Zilfalil, Alwi

مصطلحات موضوعية: QH426 Genetics, R Medicine (General), RB Pathology

وصف الملف: text

Relation: http://ir.unimas.my/id/eprint/46285/1/Global%20Globin%20Network%20and%20adopting%20genomic.pdf; Hashim, Halim-Fikri and Ninie Nadia, Zulkiplii and Hafza, Alauddin and Celestea, Bento and Carsten, W Lederer and Petros, Kountouris and Marina, Kleanthous and Yetti, Hernaningsih and Thong, Meow Keong and Muhammad Hamdi, Mahmood and Norafiza, Mohd Yasin and Ezalia, Esa and Jacques, Elion and Domenico, Coviello and Raja Zahratul Azma, Raja Sabudin and Ghada, El-Kamah and John, Burn and Narazah, Mohd Yusoff and Raj, Ramesar and Zilfalil, Alwi (2024) Global Globin Network and adopting genomic variant database requirements for thalassemia. Database, 2024. pp. 1-14. ISSN 1758-0463

الاتاحة: http://ir.unimas.my/id/eprint/46285/
https://academic.oup.com/database/article/doi/10.1093/database/baae080/7749354
https://doi.org/10.1093/database/baae080
http://ir.unimas.my/id/eprint/46285/1/Global%20Globin%20Network%20and%20adopting%20genomic.pdf

المؤلفون: C Coralea Stephanou, P Petros Kountouris, C Carsten W Lederer, C Celeste Bento, C Cornelis L Hartveld, J Jan Traeger-Synodinos, J John S Waye, Z Zhiyu Peng, I Irene Fylaktou, H Hashim Halim-Fikri, T Tamara T. Koopmann, L Landry Nfonsam, J Jun Sun, F Franck Nzengu-Lukusa, M Michael Angastiniotis, C Catherine Badens, B Bertha Ibarra Cortes, J Johan T. den Dunnen, J Jacques Elion, S Suthat Fucharoen, K Kyriaki Michailidou, T Thessalia Papasavva, A Antonio Piga, R Raj Ramesar, S Swee Lay Thein, L Léon Tshilolo, Z Zilfalil Bin Alwi, M Marina Kleanthous

المصدر: HemaSphere, Vol 6, Pp 34-35 (2022)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: http://journals.lww.com/10.1097/01.HS9.0000821632.18626.46; https://doaj.org/toc/2572-9241

URL الوصول: https://doaj.org/article/2ac140c7db5a45d3b792af508f21b296