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Alphan Küpesiz

As seen in: Nature, Wiley Online Library
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Articles

Advanced Molecular Analysis in Hemophilia A in a Single Step: Next Generation Sequencing (NGS) and Copy Number Variation (CNV) Analysis

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By Enise Avci Durmusalioglu, Esra Isik, Basak Durmus Ozen, Mehmet Mert Topaloglu, Nihal Karadaş, Kaan Kavakli, Melike Sezgin Evim, Tolga Aslan, Erşen Kavak, Adalet Meral Güneş, Funda Tayfun Kupesiz, Alphan Küpesiz, Fahri Şahin, Tahir Atik
| Wiley Online Library Verified
1 Introduction Hemophilia A is an X-linked inherited bleeding disorder with a wide clinical spectrum ranging from mild to severe forms, with an estimated prevalence of 24.6 per 100 000 male births [1]. It is caused by pathogenic variants in the F8 gene, which encodes the coagulation factor VIII (FVIII) [2]. The type of underlying genetic alteration strongly correlates with plasma factor activity, bleeding phenotype, disease severity, and the risk of developing inhibitors during treatment [3-5].
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Outcomes of patients undergoing allogeneic haematopoietic stem cell transplantation for congenital amegakaryocytic thrombocytopenia; a study on behalf of the PDWP of the EBMT | Bone Marrow Transplantation

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By Jacques-Emmanuel Galimard, Marco Zecca, Alexander B. Mohseny, Alphan Küpesiz, Nuno Miranda, Tayfun Güngör, Robert F. Wynn, Pietro Merli, Mikael Sundin, Maura Faraci, Cristina Diaz-de-Heredia, Birgit Burkhardt, Victoria Bordón, Marianne Ifversen, Concepcion Herrera Arroyo, Natalia Maximova, Franco Locatelli, Krzysztof Kalwak, Clémence Aldebert
| Nature Verified
Abstract Congenital amegakaryocytic thrombocytopenia is a rare, inherited bone marrow failure syndrome. Allogeneic haematopoietic stem cell transplantation (allo-HSCT) is currently the only curative treatment. In this retrospective study, we analysed 66 patients with allo-HSCT, reported in the European Society for Blood and Marrow Transplantation (EBMT) registry.
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The serial changes in myocardial functions after paediatric haematopoietic stem cell transplantation

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By Filiz Ekici, Elif Guler, Koray Yalçın, Alphan Küpesiz
| dx.doi.org
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