المؤلفون: Navarro , Ana María, Mantilla, Gabriela, Fernández , Jorge Andrés, Unigarro, Mario Fernando, Suárez , Alfonso, Ortega , María Claudia

المصدر: Biomedica; Vol. 44 No. Sp. 2 (2024): Inmunología clínica, publicación anticipada ; Biomédica; Vol. 44 Núm. Sp. 2 (2024): Inmunología clínica, publicación anticipada ; 2590-7379 ; 0120-4157

مصطلحات موضوعية: severe combined immunodeficiency, cernunnos-XLF, V(D)J recombination, DNA End-Joining repair, genetics, heredity, syndrome, inmunodeficiencia combinada grave, recombinación V(D)J, reparación del ADN por unión de extremidades, herencia genética, síndrome

وصف الملف: application/pdf

Relation: https://revistabiomedica.org/index.php/biomedica/article/view/7414/5559; https://revistabiomedica.org/index.php/biomedica/article/view/7414

الاتاحة: https://revistabiomedica.org/index.php/biomedica/article/view/7414

المؤلفون: Slack, James, Albert, Michael H, Balashov, Dmitry, Belohradsky, Bernd H, Bertaina, Alice, Bleesing, Jack, Booth, Claire, Buechner, Jochen, Buckley, Rebecca H, Ouachée-Chardin, Marie, Deripapa, Elena, Drabko, Katarzyna, Eapen, Mary, Feuchtinger, Tobias, Finocchi, Andrea, Gaspar, H Bobby, Ghosh, Sujal, Gillio, Alfred, Gonzalez-Granado, Luis I, Grunebaum, Eyal, Güngör, Tayfun, Heilmann, Carsten, Helminen, Merja, Higuchi, Kohei, Imai, Kohsuke, Kalwak, Krzysztof, Kanazawa, Nubuo, Karasu, Gülsün, Kucuk, Zeynep Y, Laberko, Alexandra, Lange, Andrzej, Mahlaoui, Nizar, Meisel, Roland, Moshous, D, Muramatsu, Hideki, Parikh, Suhag, Pasic, Srdjan, Schmid, Irene, Schuetz, Catharina, Schulz, Ansgar, Schultz, Kirk R, Shaw, Peter J, Slatter, Mary A, Sykora, Karl-Walter, Tamura, Shinobu, Taskinen, Mervi, Wawer, Angela, Wolska-Kuśnierz, Beata, Cowan, Morton J, Fischer, Alain, Gennery, Andrew R

المصدر: Journal of Allergy and Clinical Immunology. 141(1)

مصطلحات موضوعية: Rare Diseases, Transplantation, Hematology, Genetics, Cancer, Pediatric, Adolescent, Alleles, Child, Child, Preschool, DNA Breaks, Double-Stranded, DNA Repair, DNA Repair-Deficiency Disorders, Female, Follow-Up Studies, Graft vs Host Disease, Hematopoietic Stem Cell Transplantation, Humans, Infant, Kaplan-Meier Estimate, Male, Mutation, Prognosis, Treatment Outcome, Virus Diseases, Young Adult, Ataxia-telangiectasia, Cernunnos-XLF deficiency, DNA repair disorders, DNA ligase IV deficiency, hematopoietic stem cell transplantation, Nijmegen breakage syndrome, Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiencies, Stem Cell Transplant for Immunodeficiencies in Europe, Center for International Blood and Marrow Transplant Research, Primary Immunodeficiency Treatment Consortium, Immunology, Allergy

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3dv35396

المؤلفون: Beata Wolska-Kuśnierz, Andrew R. Gennery

المصدر: Frontiers in Pediatrics, Vol 7 (2020)

مصطلحات موضوعية: artemis deficiency, ataxia-telangiectasia, cernunnos-XLF deficiency, ligase 4 deficiency, Nijmegen breakage syndrome, radiosensitivity, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fped.2019.00557/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/934d6f72485e4d0e953cbc8a5b8f44ed

المؤلفون: Slack, James, Albert, Michael H., Balashov, Dmitry, Belohradsky, Bernd H., Bertaina, Alice, Bleesing, Jack, Booth, Claire, Buechner, Jochen, Buckley, Rebecca H., Ouachee-Chardin, Marie, Deripapa, Elena, Drabko, Katarzyna, Eapen, Mary, Feuchtinger, Tobias, Finocchi, Andrea, Gaspar, H. Bobby, Ghosh, Sujal, Gillio, Alfred, Gonzalez-Granado, Luis I., Grunebaum, Eyal, Gungor, Tayfun, Heilmann, Carsten, Helminen, Merja, Higuchi, Kohei, Imai, Kohsuke, Kalwak, Krzysztof, Kanazawa, Nubuo, Karasu, Gulsun, Kucuk, Zeynep Y., Laberko, Alexandra, Lange, Andrzej, Mahlaoui, Nizar, Meisel, Roland, Moshous, D., Muramatsu, Hideki, Parikh, Suhag, Pasic, Srdjan, Schmid, Irene, Schuetz, Catharina, Schulz, Ansgar, Schultz, Kirk R., Shaw, Peter J., Slatter, Mary A., Sykora, Karl-Walter, Tamura, Shinobu, Taskinen, Mervi, Wawer, Angela, Wolska-Kusnierz, Beata, Cowan, Morton J., Fischer, Alain, European Soc Blood Marrow, European Soc Immunodeficiencies, Stem Cell Transplant, Ctr Int Blood Marrow, Primary Immunodeficiency Treatment

المساهمون: Lastentautien yksikkö, Children's Hospital, Clinicum, HUS Children and Adolescents, HUS Comprehensive Cancer Center

مصطلحات موضوعية: Ataxia-telangiectasia, Cernunnos-XLF deficiency, DNA repair disorders, DNA ligase IV deficiency, hematopoietic stem cell transplantation, Nijmegen breakage syndrome, SEVERE COMBINED IMMUNODEFICIENCY, LIGASE IV MUTATIONS, FANCONI-ANEMIA, MARROW TRANSPLANTATION, HYPOMORPHIC MUTATIONS, ARTEMIS, PATIENT, BLOOD, General medicine, internal medicine and other clinical medicine

وصف الملف: application/pdf

Relation: M.J.C. was supported by the Division of Allergy, Immunology, and Transplantation; the National Institute of Allergy and Infectious Diseases; the Intramural Research Program of the National Institute of Allergy and Infectious Diseases; and the Office of Rare Diseases Research, National Center for Advancing Translational Sciences, National Institutes of Health (U54-AI082973). M.E. was funded in part by Public Health Service grant U24-CA76518 from the National Cancer Institute; the National Heart, Lung, and Blood Institute; and the National Institute of Allergy and Infectious Diseases. L.I.G.-G. was supported by a grant from Fondo de Investigacion Sanitaria (FIS-PI16/2053). H.B.G. is supported by the Great Ormond Street Hospital Children's Charity and by the National Institute of Health Research Biomedical Research Centre at Great Ormond Street Hospital and University College London.; Slack , J , Albert , M H , Balashov , D , Belohradsky , B H , Bertaina , A , Bleesing , J , Booth , C , Buechner , J , Buckley , R H , Ouachee-Chardin , M , Deripapa , E , Drabko , K , Eapen , M , Feuchtinger , T , Finocchi , A , Gaspar , H B , Ghosh , S , Gillio , A , Gonzalez-Granado , L I , Grunebaum , E , Gungor , T , Heilmann , C , Helminen , M , Higuchi , K , Imai , K , Kalwak , K , Kanazawa , N , Karasu , G , Kucuk , Z Y , Laberko , A , Lange , A , Mahlaoui , N , Meisel , R , Moshous , D , Muramatsu , H , Parikh , S , Pasic , S , Schmid , I , Schuetz , C , Schulz , A , Schultz , K R , Shaw , P J , Slatter , M A , Sykora , K-W , Tamura , S , Taskinen , M , Wawer , A , Wolska-Kusnierz , B , Cowan , M J , Fischer , A , European Soc Blood Marrow , European Soc Immunodeficiencies , Stem Cell Transplant , Ctr Int Blood Marrow & Primary Immunodeficiency Treatment 2018 , ' Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders ' , Journal of Allergy and Clinical Immunology , vol. 141 , no. 1 , pp. 322-+ . https://doi.org/10.1016/j.jaci.2017.02.036; http://hdl.handle.net/10138/298620; 184774d6-03cf-4e13-b807-2c69ec23f20d; 85018987484; 000419312200037

الاتاحة: http://hdl.handle.net/10138/298620

المؤلفون: Slack J., Albert M. H., Balashov D., Belohradsky B. H., Bertaina A., Bleesing J., Booth C., Buechner J., Buckley R. H., Ouachee-Chardin M., Deripapa E., Drabko K., Eapen M., Feuchtinger T., Finocchi A., Gaspar H. B., Ghosh S., Gillio A., Gonzalez-Granado L. I., Grunebaum E., Gungor T., Heilmann C., Helminen M., Higuchi K., Imai K., Kalwak K., Kanazawa N., Karasu G., Kucuk Z. Y., Laberko A., Lange A., Mahlaoui N., Meisel R., Moshous D., Muramatsu H., Parikh S., Pasic S., Schmid I., Schuetz C., Schulz A., Schultz K. R., Shaw P. J., Slatter M. A., Sykora K. -W., Tamura S., Taskinen M., Wawer A., Wolska-Kusnierz B., Cowan M. J., Fischer A., Gennery A. R.

المساهمون: Slack, J, Albert, Mh, Balashov, D, Belohradsky, Bh, Bertaina, A, Bleesing, J, Booth, C, Buechner, J, Buckley, Rh, Ouachee-Chardin, M, Deripapa, E, Drabko, K, Eapen, M, Feuchtinger, T, Finocchi, A, Gaspar, Hb, Ghosh, S, Gillio, A, Gonzalez-Granado, Li, Grunebaum, E, Gungor, T, Heilmann, C, Helminen, M, Higuchi, K, Imai, K, Kalwak, K, Kanazawa, N, Karasu, G, Kucuk, Zy, Laberko, A, Lange, A, Mahlaoui, N, Meisel, R, Moshous, D, Muramatsu, H, Parikh, S, Pasic, S, Schmid, I, Schuetz, C, Schulz, A, Schultz, Kr, Shaw, Pj, Slatter, Ma, Sykora, K-, Tamura, S, Taskinen, M, Wawer, A, Wolska-Kusnierz, B, Cowan, Mj, Fischer, A, Gennery, Ar

مصطلحات موضوعية: Ataxia-telangiectasia, Cernunnos-XLF deficiency, DNA ligase IV deficiency, DNA repair disorder, Nijmegen breakage syndrome, hematopoietic stem cell transplantation, Adolescent, Allele, Child, Preschool, DNA Repair-Deficiency Disorder, Female, Follow-Up Studie, Graft vs Host Disease, Human, Infant, Kaplan-Meier Estimate, Male, Mutation, Prognosi, Treatment Outcome, Virus Disease, Young Adult, DNA Breaks, Double-Stranded, DNA Repair, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA

Relation: info:eu-repo/semantics/altIdentifier/pmid/28392333; info:eu-repo/semantics/altIdentifier/wos/WOS:000419312200037; volume:141; issue:1; firstpage:322; lastpage:328.e10; journal:THE JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY; http://hdl.handle.net/2108/233839; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85018987484

الاتاحة: http://hdl.handle.net/2108/233839
https://doi.org/10.1016/j.jaci.2017.02.036

المؤلفون: Slack, James, Albert, Michael H, Balashov, Dmitry, Belohradsky, Bernd H, Bertaina, Alice, Bleesing, Jack, Booth, Claire, Buechner, Jochen, Buckley, Rebecca H, Ouachée-Chardin, Marie, Deripapa, Elena, Drabko, Katarzyna, Eapen, Mary, Feuchtinger, Tobias, Finocchi, Andrea, Gaspar, H Bobby, Ghosh, Sujal, Gillio, Alfred, Gonzalez-Granado, Luis I, Grunebaum, Eyal, Güngör, Tayfun, Heilmann, Carsten, Helminen, Merja, Higuchi, Kohei, Imai, Kohsuke, Kalwak, Krzysztof, Kanazawa, Nubuo, Karasu, Gülsün, Kucuk, Zeynep Y, Laberko, Alexandra, Lange, Andrzej, Mahlaoui, Nizar, Meisel, Roland, Moshous, D, Muramatsu, Hideki, Parikh, Suhag, Pasic, Srdjan, Schmid, Irene, Schuetz, Catharina, Schulz, Ansgar, Schultz, Kirk R, Shaw, Peter J, Slatter, Mary A, Sykora, Karl-Walter, Tamura, Shinobu, Taskinen, Mervi, Wawer, Angela, Wolska-Kuśnierz, Beata, Cowan, Morton J, Fischer, Alain, Gennery, Andrew R, Inborn Errors Working Party of the European Society for Blood and Marrow Transplantation and the European Society for Immunodeficiencies, Stem Cell Transplant for Immunodeficiencies in Europe (SCETIDE), Center for International Blood and Marrow Transplant Research, Primary Immunodeficiency Treatment Consortium

مصطلحات موضوعية: Ataxia-Telangiectasia, Cernunnos-XLF deficiency, DNA Ligase 4 deficiency, DNA repair disorders, Hematopoietic stem cell transplantation, Nijmegen Breakage syndrome

جغرافية الموضوع: United States

وصف الملف: application/pdf

Relation: J Allergy Clin Immunol; https://www.ncbi.nlm.nih.gov/pubmed/28392333; S0091-6749(17)30567-5; https://hdl.handle.net/10161/14232

الاتاحة: https://hdl.handle.net/10161/14232
https://www.ncbi.nlm.nih.gov/pubmed/28392333

المؤلفون: Menchon, Grégory

المساهمون: STAR, ABES

مصطلحات موضوعية: Virtual screening, Cassures double-brin de l'ADN, Inhibitor, [SDV.BBM.BS] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Structural Biology [q-bio.BM], XRCC4/ADN ligase IV/Cernunnos-XLF, Criblage virtuel, Criblage biophysique, Inhibiteur, Biophysical screening, [SDV.CAN] Life Sciences [q-bio]/Cancer, DNA double-strand breaks, Radiosensibilisation tumorale, NHEJ, Radiosensitisation of tumours

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______166::ee012450799a075b6cf34de1d8d12d1f
https://theses.hal.science/tel-03770248

المؤلفون: Menchon, Grégory

المساهمون: Institut de pharmacologie et de biologie structurale (IPBS), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Centre National de la Recherche Scientifique (CNRS), Université Paul Sabatier - Toulouse III, Patrick Calsou, Jerzy Czaplicki

المصدر: https://theses.hal.science/tel-03770248 ; Biologie structurale [q-bio.BM]. Université Paul Sabatier - Toulouse III, 2015. Français. ⟨NNT : 2015TOU30395⟩.

مصطلحات موضوعية: DNA double-strand breaks, NHEJ, Virtual screening, Biophysical screening, XRCC4/ADN ligase IV/Cernunnos-XLF, Inhibitor, Radiosensitisation of tumours, Cassures double-brin de l'ADN, Criblage virtuel, Criblage biophysique, Inhibiteur, Radiosensibilisation tumorale, [SDV.BBM.BS]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Structural Biology [q-bio.BM], [SDV.CAN]Life Sciences [q-bio]/Cancer

Relation: NNT: 2015TOU30395; tel-03770248; https://theses.hal.science/tel-03770248; https://theses.hal.science/tel-03770248/document; https://theses.hal.science/tel-03770248/file/2015TOU30395a.pdf

الاتاحة: https://theses.hal.science/tel-03770248
https://theses.hal.science/tel-03770248/document
https://theses.hal.science/tel-03770248/file/2015TOU30395a.pdf

المؤلفون: Menchon, Grégory

المساهمون: Toulouse 3, Calsou, Patrick, Czaplicki, Jerzy

مصطلحات موضوعية: Cassures double-brin de l'ADN, NHEJ, Criblage virtuel, Criblage biophysique, XRCC4/ADN ligase IV/Cernunnos-XLF, Inhibiteur, Radiosensibilisation tumorale, DNA double-strand breaks, Virtual screening, Biophysical screening, Inhibitor, Radiosensitisation of tumours

Relation: http://www.theses.fr/2015TOU30395/document

الاتاحة: http://www.theses.fr/2015TOU30395/document

المؤلفون: FARACI M, LANINO E, MICALIZZI C, MORREALE G, DI MARTINO D, BANOV L, COMOLI P, LOCATELLI, FRANCO, SORESINA A, PLEBANI A.

المساهمون: Faraci, M, Lanino, E, Micalizzi, C, Morreale, G, DI MARTINO, D, Banov, L, Comoli, P, Locatelli, Franco, Soresina, A, Plebani, A.

مصطلحات موضوعية: CERNUNNOS-XLF DEFICIENCY, ALLOGENEIC HSCT, CSY

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/PMID: 19067926; info:eu-repo/semantics/altIdentifier/wos/WOS:000262727500143; volume:13; issue:6; firstpage:785; lastpage:789; numberofpages:5; journal:PEDIATRIC TRANSPLANTATION; http://hdl.handle.net/11571/146086; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-68849087197

الاتاحة: http://hdl.handle.net/11571/146086
https://doi.org/10.1111/j.1399-3046.2008.01028.x