نتائج البحث - "Unal, Sule"

المساهمون: Marra, Roberta, Nostroso, Antonella, Rosato, Barbara Eleni, Esposito, Federica Maria, D'Onofrio, Vanessa, Iscaro, Anthony, Gambale, Antonella, Bruschi, Barbara, Coccia, Paola, Poloni, Antonella, Unal, Sule, Romano, Alberto, Iolascon, Achille, Andolfo, Immacolata, Russo, Roberta

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:001208348600001; volume:99; issue:8; journal:AMERICAN JOURNAL OF HEMATOLOGY; https://hdl.handle.net/11588/976084

الاتاحة: https://hdl.handle.net/11588/976084
https://doi.org/10.1002/ajh.27350

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9

Academic Journal

HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia

المصدر: O'Donohue , M-F , da Costa , L , Lezzerini , M , Unal , S , Joret , C , Bartels , M , Brilstra , E , Scheijde-Vermeulen , M , Wacheul , L , de Keersmaecker , K , Vereecke , S , Labarque , V , Saby , M , Lefevre , S D , Platon , J , Montel-Lehry , N , Laugero , N , Lacazette , E , van Gassen , K , Houtkooper , R H , Simsek-Kiper , P O , Leblanc , T , Yarali , N , Cetinkaya ....

الاتاحة: https://research.vumc.nl/en/publications/7731263a-7b25-4244-b994-0a42cb7e6400
https://doi.org/10.1182/blood.2021011846
http://www.scopus.com/inward/record.url?scp=85131054242&partnerID=8YFLogxK

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10

Academic Journal

Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency : Report on 30 Patients

المؤلفون: Hashem, Hasan, Bucciol, Giorgia, Ozen, Seza, Unal, Sule, Bozkaya, Ikbal Ok, Akarsu, Nurten, Taskinen, Mervi, Koskenvuo, Minna, Saarela, Janna, Dimitrova, Dimana, Hickstein, Dennis D., Hsu, Amy P., Holland, Steven M., Krance, Robert, Sasa, Ghadir, Kumar, Ashish R., Muller, Ingo, de Sousa, Monica Abreu, Delafontaine, Selket, Moens, Leen, Babor, Florian, Barzaghi, Federica, Cicalese, Maria Pia, Bredius, Robbert, van Montfrans, Joris, Baretta, Valentina, Cesaro, Simone, Stepensky, Polina, Benedicte, Neven, Moshous, Despina, Le Guenno, Guillaume, Boutboul, David, Dalal, Jignesh, Brooks, Joel P., Dokmeci, Elif, Dara, Jasmeen, Lucas, Carrie L., Hambleton, Sophie, Wilson, Keith, Jolles, Stephen, Koc, Yener, Gungor, Tayfun, Schnider, Caroline, Candotti, Fabio, Steinmann, Sandra, Schulz, Ansgar, Chambers, Chip, Hershfield, Michael, Ombrello, Amanda, Kanakry, Jennifer A., Meyts, Isabelle

المساهمون: HUS Children and Adolescents, Lastentautien yksikkö, Children's Hospital, Clinicum, HUSLAB, Janna Saarela / Principal Investigator, Institute for Molecular Medicine Finland, Helsinki Institute of Life Science HiLIFE, University of Helsinki

مصطلحات موضوعية: Hematopoietic cell transplantation, Deficiency of adenosine deaminase 2, DADA2, Inborn error of immunity, Bone marrow failure, Immunodeficiency, Autoinflammation, ADA2 DEFICIENCY, PHENOTYPE, VASCULOPATHY, RESCUES, General medicine, internal medicine and other clinical medicine

وصف الملف: application/pdf

Relation: This project was funded in whole or in part by federal funds from the National Cancer Institute, National Institutes of Health, under Contract No. HHSN261200800001E. This research was supported (in part) by the Intramural Research Program of the NIH, National Cancer Institute, Center for Cancer Research and (in part) by the National Institute of Allergy and Infectious Diseases, the Sir Jules Thorn Charitable Trust (12/JTA), and the Wellcome Trust (207556_Z_17_Z). Specific ERARE grant funding was attributed to the EuroDBA researchers of Turkey by the Scientific and Technological Research Council of Turkey (TUBITAK, 315S192).SD is supported by the Personal Research Foundation -Flanders grant 11F4421N. CLL received support from the Immune Deficiency Foundation and Yale University School of Medicine. IM is a Senior Clinical Investigator at the Research Foundation -Flanders and is supported by the CSL Behring Chair of Primary Immunodeficiencies paid to KU Leuven; by the KU Leuven C1 Grant C16/18/007; by a VIB GC PID Grant, by the FWO Grants G0C8517N, G0B5120N, and G0E8420N; and by the Jeffrey Modell Foundation. This project has received funding from the European Research Council (ERC) under the European Union's Horizon 2020 research and innovation program (grant agreement No. 948959, MORE2ADA2).; Hashem , H , Bucciol , G , Ozen , S , Unal , S , Bozkaya , I O , Akarsu , N , Taskinen , M , Koskenvuo , M , Saarela , J , Dimitrova , D , Hickstein , D D , Hsu , A P , Holland , S M , Krance , R , Sasa , G , Kumar , A R , Muller , I , de Sousa , M A , Delafontaine , S , Moens , L , Babor , F , Barzaghi , F , Cicalese , M P , Bredius , R , van Montfrans , J , Baretta , V , Cesaro , S , Stepensky , P , Benedicte , N , Moshous , D , Le Guenno , G , Boutboul , D , Dalal , J , Brooks , J P , Dokmeci , E , Dara , J , Lucas , C L , Hambleton , S , Wilson , K , Jolles , S , Koc , Y , Gungor , T , Schnider , C , Candotti , F , Steinmann , S , Schulz , A , Chambers , C , Hershfield , M , Ombrello , A , Kanakry , J A & Meyts , I 2021 , ' Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency : Report on 30 Patients ' , Journal of Clinical Immunology , vol. 41 , no. 7 , pp. 1633-1647 . https://doi.org/10.1007/s10875-021-01098-0; ORCID: /0000-0002-0853-6219/work/108462626; http://hdl.handle.net/10138/340507; ff63a95a-4fbe-4c6c-97c6-ae9422104518; 000679258000001

الاتاحة: http://hdl.handle.net/10138/340507

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11

Academic Journal

Correction to: Hematopoietic cell transplantation cures adenosine deaminase 2 deficiency: report on 30 patients

المؤلفون: Hashem, Hasan, Bucciol, Giorgia, Ozen, Seza, Unal, Sule, Bozkaya, Ikbal Ok, Akarsu, Nurten, Taskinen, Mervi, Koskenvuo, Minna, Saarela, Janna, Dimitrova, Dimana, Hickstein, Dennis D., Hsu, Amy P., Holland, Steven M., Krance, Robert, Sasa, Ghadir, Kumar, Ashish R., Müller, Ingo, de Sousa, Monica Abreu, Delafontaine, Selket, Moens, Leen, Babor, Florian, Barzaghi, Federica, Cicalese, Maria Pia, Bredius, Robbert, van Montfrans, Joris, Baretta, Valentina, Cesaro, Simone, Stepensky, Polina, Benedicte, Neven, Moshous, Despina, Le Guenno, Guillaume, Boutboul, David, Dalal, Jignesh, Brooks, Joel P., Dokmeci, Elif, Dara, Jasmeen, Lucas, Carrie L., Hambleton, Sophie, Wilson, Keith, Jolles, Stephen, Koc, Yener, Güngör, Tayfun, Schnider, Caroline, Candotti, Fabio, Steinmann, Sandra, Schulz, Ansgar, Chambers, Chip, Hershfield, Michael, Ombrello, Amanda, Kanakry, Jennifer A., Meyts, Isabelle

وصف الملف: application/pdf

Relation: https://orca.cardiff.ac.uk/id/eprint/149487/1/Hashem2022_Article_CorrectionToHematopoieticCellT.pdf; Hashem, Hasan, Bucciol, Giorgia, Ozen, Seza, Unal, Sule, Bozkaya, Ikbal Ok, Akarsu, Nurten, Taskinen, Mervi, Koskenvuo, Minna, Saarela, Janna, Dimitrova, Dimana, Hickstein, Dennis D., Hsu, Amy P., Holland, Steven M., Krance, Robert, Sasa, Ghadir, Kumar, Ashish R., Müller, Ingo, de Sousa, Monica Abreu, Delafontaine, Selket, Moens, Leen, Babor, Florian, Barzaghi, Federica, Cicalese, Maria Pia, Bredius, Robbert, van Montfrans, Joris, Baretta, Valentina, Cesaro, Simone, Stepensky, Polina, Benedicte, Neven, Moshous, Despina, Le Guenno, Guillaume, Boutboul, David, Dalal, Jignesh, Brooks, Joel P., Dokmeci, Elif, Dara, Jasmeen, Lucas, Carrie L., Hambleton, Sophie, Wilson, Keith https://orca.cardiff.ac.uk/view/cardiffauthors/A016108B.html, Jolles, Stephen https://orca.cardiff.ac.uk/view/cardiffauthors/A076912M.html, Koc, Yener, Güngör, Tayfun, Schnider, Caroline, Candotti, Fabio, Steinmann, Sandra, Schulz, Ansgar, Chambers, Chip, Hershfield, Michael, Ombrello, Amanda, Kanakry, Jennifer A. and Meyts, Isabelle 2022. Correction to: Hematopoietic cell transplantation cures adenosine deaminase 2 deficiency: report on 30 patients. Journal of Clinical Immunology 10.1007/s10875-022-01280-y https://doi.org/10.1007/s10875-022-01280-y file https://orca.cardiff.ac.uk/id/eprint/149487/1/Hashem2022_Article_CorrectionToHematopoieticCellT.pdf

الاتاحة: https://orca.cardiff.ac.uk/id/eprint/149487/
https://doi.org/10.1007/s10875-022-01280-y
https://orca.cardiff.ac.uk/id/eprint/149487/1/Hashem2022_Article_CorrectionToHematopoieticCellT.pdf

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12

Academic Journal

Assessment of biochemical bone markers of osteoporosis in children with thalassemia major

المؤلفون: Motor, Sedat, Balci, Ali, Unal, Sule, Sangun, Ozlem, Celik, Tanju

الاتاحة: https://doi.org/10.1186/s13052-022-01290-x
https://avesis.hacettepe.edu.tr/publication/details/2c3115f3-9944-45f9-a707-32780bd7490d/oai

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13

Academic Journal

Identification of the molecular etiology in rare congenital hemolytic anemias using next‐generation sequencing with exome‐based copy number variant analysis.

المصدر: European Journal of Haematology; Jul2024, Vol. 113 Issue 1, p82-89, 8p

مصطلحات موضوعية: DNA copy number variations, HEMOLYTIC anemia, NUCLEOTIDE sequencing, POLYMERASE chain reaction, ETIOLOGY of diseases

14

Academic Journal

Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1

المؤلفون: Seo, Aaron, Steinberg-Shemer, Orna, Unal, Sule, Casadei, Silvia, Walsh, Tom, Gumruk, Fatma, Shalev, Stavit, Shimamura, Akiko, Akarsu, Nurten Ayse, Tamary, Hannah, King, Mary-Claire

المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2018 May . 115(20), 5241-5246.

URL الوصول: https://www.jstor.org/stable/26509514

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15

Academic Journal

Dominant Beta Thalassemia: A Very Rare Cause of Thalassemia in a Mediterranean Country

المؤلفون: Unal, Sule, COŞKUN, ÇAĞRI

الاتاحة: https://doi.org/10.1080/03630269.2024.2386067
https://avesis.hacettepe.edu.tr/publication/details/fe54e68b-5cd2-4d87-b9fa-0c87653e7974/oai

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16

Academic Journal

Identification of the molecular etiology in rare congenital hemolytic anemias using next-generation sequencing with exome-based copy number variant analysis

الاتاحة: https://doi.org/10.1111/ejh.14194
https://avesis.hacettepe.edu.tr/publication/details/e81d7b8b-9ec3-4177-9e06-80d84499ac89/oai

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17

Academic Journal

Two cases with undefined childhood interstitial lung disease: Can it be related to telomere variants?

المؤلفون: Ozcelik, Ugur, Kiper, Nural, DOĞRU ERSÖZ, DENİZ, Alboga, Didem, GÜZELKAŞ, İSMAİL, Unal, Sule, ORHAN, DİCLEHAN, KARAOSMANOĞLU, BEREN, ŞİMŞEK KİPER, PELİN ÖZLEM, ÜTİNE, GÜLEN EDA, OĞUZ, BERNA, ÖZCAN, HATİCE NURSUN, Yalcin, Ebru, EMİRALİOĞLU ORDUKAYA, NAGEHAN, Buyuksahin, Halime Nayir

الاتاحة: https://doi.org/10.1111/jpc.16666
https://avesis.hacettepe.edu.tr/publication/details/68f6c0fe-f83d-47bf-9e27-2835e544abf8/oai

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18

Academic Journal

Alu-Mediated Deletion of FANCA in Turkish Families With Fanconi Anemia: Evidence of a Founder Effect

المؤلفون: ÇETİNKAYA, ARDA, Unal, Sule, Celkan, Tiraje, GÜMRÜK, FATMA, DURMAZ ÖZDİNÇ, CEREN DAMLA

الاتاحة: https://doi.org/10.1002/ajmg.a.63945
https://avesis.hacettepe.edu.tr/publication/details/5b0606d1-f04d-4aff-9b96-d63d76efeffd/oai

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19

Academic Journal

Two cases with undefined childhood interstitial lung disease: Can it be related to telomere variants?

المؤلفون: Nayır Büyükşahin, Halime, Emiralioğlu, Nagehan, Yalçın, Ebru, Ozcan, H. Nursun, Oğuz, Berna, Utine, Gülen Eda, Kiper, Pelin Özlem, Karaosmanoğlu, Beren, Orhan, Diclehan, Unal, Sule, Güzelkaş, İsmail, Alboğa, Didem, Doğru, Deniz, Özçelik, Uğur, Kiper, Nural

المصدر: Journal of Paediatrics & Child Health; Nov2024, Vol. 60 Issue 11, p754-756, 3p

مصطلحات موضوعية: CILIARY motility disorders, TELOMERASE reverse transcriptase, INTERSTITIAL lung diseases, VITAL capacity (Respiration), CHILD patients, COUGH

20

The european hematology association roadmap for european hematology research : A consensus document

المؤلفون: Engert, Andreas, Balduini, Carlo, Brand, Anneke, Coiffier, Bertrand, Cordonnier, Catherine, Döhner, Hartmut, De Wit, Thom Duyvené, Eichinger, Sabine, Fibbe, Willem, Green, Tony, De Haas, Fleur, Iolascon, Achille, Jaffredo, Thierry, Rodeghiero, Francesco, Sall Es, Gilles, Schuringa, Jan Jacob, André, Marc, Andre-Schmutz, Isabelle, Bacigalupo, Andrea, Bochud, Pierre Yves, Den Boer, Monique, Bonini, Chiara, Camaschella, Clara, Cant, Andrew, Cappellini, Maria Domenica, Cazzola, Mario, Celso, Cristina Lo, Dimopoulos, Meletios, Douay, Luc, Dzierzak, Elaine, Einsele, Hermann, Ferreri, Andrés, De Franceschi, Lucia, Gaulard, Philippe, Gottgens, Berthold, Greinacher, Andreas, Gresele, Paolo, Gribben, John, De Haan, Gerald, Hansen, John Bjarne, Hochhaus, Andreas, Kadir, Rezan, Kaveri, Srini, Kouskoff, Valerie, Kühne, Thomas, Kyrle, Paul, Ljungman, Per, Maschmeyer, Georg, Méndez-Ferrer, Simón, Milsom, Michael, Mummery, Christine, Ossenkoppele, Gert, Pecci, Alessandro, Peyvandi, Flora, Philipsen, Sjaak, Reitsma, Pieter, Ribera, José Maria, Risitano, Antonio, Rivella, Stefano, Ruf, Wolfram, Schroeder, Timm, Scully, Marie, Socie, Gerard, Staal, Frank, Stanworth, Simon, Stauder, Reinhard, Stilgenbauer, Stephan, Tamary, Hannah, Theilgaard-Mönch, Kim, Thein, Swee Lay, Tilly, Hervé, Trneny, Marek, Vainchenker, William, Vannucchi, Alessandro Maria, Viscoli, Claudio, Vrielink, Hans, Zaaijer, Hans, Zanella, Alberto, Zolla, Lello, Zwaginga, Jaap Jan, Martinez, Patricia Aguilar, Van Den Akker, Emile, Allard, Shubha, Anagnou, Nicholas, Andolfo, Immacolata, Andrau, Jean Christophe, Angelucci, Emanuele, Anstee, David, Aurer, Igor, Avet-Loiseau, Hervé, Aydinok, Yesim, Bakchoul, Tamam, Balduini, Alessandra, Barcellini, Wilma, Baruch, Dominique, Baruchel, André, Bayry, Jagadeesh, Bento, Celeste, Van Den Berg, Anke, Bernardi, Rosa, Bianchi, Paola, Bigas, Anna, Biondi, Andrea, Bohonek, Milos, Bonnet, Dominique, Borchmann, Peter, Borregaard, Niels, Brækkan, Sigrid, Van Den Brink, Marcel, Brodin, Ellen, Bullinger, Lars, Buske, Christian, Butzeck, Barbara, Cammenga, Jörg, Campo, Elias, Carbone, Antonino, Cervantes, Francisco, Cesaro, Simone, Charbord, Pierre, Claas, Frans, Cohen, Hannah, Conard, Jacqueline, Coppo, Paul, Vives Corron, Joan Lluis, Da Costa, Lydie, Davi, Frederic, Delwel, Ruud, Dianzani, Irma, Domanović, Dragoslav, Donnelly, Peter, Drnovšek, Tadeja Dovč, Dreyling, Martin, Du, Ming Qing, Dufour, Carlo, Durand, Charles, Efremov, Dimitar, Eleftheriou, Androulla, Elion, Jacques, Emonts, Marieke, Engelhardt, Monika, Ezine, Sophie, Falkenburg, Fred, Favier, Remi, Federico, Massimo, Fenaux, Pierre, Fitzgibbon, Jude, Flygare, Johan, Foà, Robin, Forrester, Lesley, Galacteros, Frederic, Garagiola, Isabella, Gardiner, Chris, Garraud, Olivier, Van Geet, Christel, Geiger, Hartmut, Geissler, Jan, Germing, Ulrich, Ghevaert, Cedric, Girelli, Domenico, Godeau, Bertrand, Gökbuget, Nicola, Goldschmidt, Hartmut, Goodeve, Anne, Graf, Thomas, Graziadei, Giovanna, Griesshammer, Martin, Gruel, Yves, Guilhot, Francois, Von Gunten, Stephan, Gyssens, Inge, Halter, Jörg, Harrison, Claire, Harteveld, Cornelis, Hellström-Lindberg, Eva, Hermine, Olivier, Higgs, Douglas, Hillmen, Peter, Hirsch, Hans, Hoskin, Peter, Huls, Gerwin, Inati, Adlette, Johnson, Peter, Kattamis, Antonis, Kiefel, Volker, Kleanthous, Marina, Klump, Hannes, Krause, Daniela, Hovinga, Johanna Kremer, Lacaud, Georges, Lacroix-Desmazes, Sébastien, Landman-Parker, Judith, Legouill, Steven, Lenz, Georg, Von Lilienfeld-Toal, Marie, Von Lindern, Marieke, Lopez-Guillermo, Armando, Lopriore, Enrico, Lozano, Miguel, Macintyre, Elizabeth, Makris, Michael, Mannhalter, Christine, Martens, Joost, Mathas, Stephan, Matzdorff, Axel, Medvinsky, Alexander, Menendez, Pablo, Migliaccio, Anna Rita, Miharada, Kenichi, Mikulska, Malgorzata, Minard, Véronique, Montalbán, Carlos, De Montalembert, Mariane, Montserrat, Emili, Morange, Pierre Emmanuel, Mountford, Joanne, Muckenthaler, Martina, Müller-Tidow, Carsten, Mumford, Andrew, Nadel, Bertrand, Navarro, Jose Tomas, El Nemer, Wassim, Noizat-Pirenne, France, O’Mahony, Brian, Oldenburg, Johannes, Olsson, Martin, Oostendorp, Robert, Palumbo, Antonio, Passamonti, Francesco, Patient, Roger, De Latour, Regis Peffault, Pflumio, Francoise, Pierelli, Luca, Piga, Antonio, Pollard, Debra, Raaijmakers, Marc, Radford, John, Rambach, Ralf, Koneti Rao, A., Raslova, Hana, Rebulla, Paolo, Rees, David, Ribrag, Vincent, Rijneveld, Anita, Rinalducci, Sara, Robak, Tadeusz, Roberts, Irene, Rodrigues, Charlene, Rosendaal, Frits, Rosenwald, Andreas, Rule, Simon, Russo, Roberta, Saglio, Guiseppe, Sanchez, Mayka, Scharf, Rüdiger E., Schlenke, Peter, Semple, John, Sierra, Jorge, So-Osman, Cynthia, Soria, José Manuel, Stamatopoulos, Kostas, Stegmayr, Bernd, Stunnenberg, Henk, Swinkels, Dorine, Barata, João Pedro Taborda, Taghon, Tom, Taher, Ali, Terpos, Evangelos, Thachil, Jecko, Tissot, Jean Daniel, Touw, Ivo, Toye, Ash, Trappe, Ralf, Traverse-Glehen, Alexandra, Unal, Sule, Vaulont, Sophie, Viprakasit, Vip, Vitolo, Umberto, Van Wijk, Richard, Wójtowicz, Agnieszka, Zeerleder, Sacha, Zieger, Barbara

المصدر: Haematologica BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation StemTherapy: National Initiative on Stem Cells for Regenerative Therapy EpiHealth: Epidemiology for Health. 101(2):115-208

مصطلحات موضوعية: Medicin och hälsovetenskap, Klinisk medicin, Hematologi, Medical and Health Sciences, Clinical Medicine, Hematology

URL الوصول: https://lup.lub.lu.se/record/3f7c3c61-aa08-4dc6-b34b-c9912e8c4f87
http://dx.doi.org/10.3324/haematol.2015.136739

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