المصدر: Clinical Open-label Phase 2 Study of Low Dose Treosulfan Based Conditioning Regimen Efficacy in Hematopoietic Stem Cell Transplantation With Post-transplant Cyclophosphamide for Children Nijmegen Breakage Syndrome

المؤلفون: Adrianna Muciek, Martyna Mocarska, Anna Orłowska, Katarzyna Strakowska, Laura Opalska, Anna Maryńczak, Jan Mencel, Nicole Nitschke

المصدر: Quality in Sport, Vol 34 (2024)

مصطلحات موضوعية: Nijmegen breakage syndrome, chromosome instability, immunodeficiency, Sports, GV557-1198.995, Sports medicine, RC1200-1245

وصف الملف: electronic resource

Relation: https://apcz.umk.pl/QS/article/view/56216; https://doaj.org/toc/2450-3118

URL الوصول: https://doaj.org/article/42c2a8ef0ece44578b7b0749962d5c47

المؤلفون: Guasp, Mar^1,2,3 (AUTHOR), Rosa-Justicia, Mireia¹ (AUTHOR), Muñoz-Lopetegi, Amaia² (AUTHOR), Martínez-Hernández, Eugenia^1,2 (AUTHOR), Armangué, Thais^1,4,5 (AUTHOR), Sugranyes, Gisela^1,4,6 (AUTHOR), Stein, Heike^1,7 (AUTHOR), Borràs, Roger^1,6,8 (AUTHOR), Prades, Laia¹ (AUTHOR), Ariño, Helena¹ (AUTHOR), Planagumà, Jesús¹ (AUTHOR), De-La-Serna, Elena^4,6 (AUTHOR), Escudero, Domingo² (AUTHOR), Llufriu, Sara^1,2 (AUTHOR), Sánchez-Valle, Raquel^1,2 (AUTHOR), Santamaria, Joan¹ (AUTHOR), Compte, Albert¹ (AUTHOR), Castro-Fornieles, Josefina^1,4,6 (AUTHOR), Dalmau, Josep^1,2,3,9,10 (AUTHOR) jdalmau@clinic.cat, Spanish anti-NMDAR Encephalitis Study Group (CORPORATE AUTHOR)

المصدر: Lancet Neurology. Oct2022, Vol. 21 Issue 10, p899-910. 12p.

مصطلحات موضوعية: *NIJMEGEN breakage syndrome, *SCHIZOPHRENIA, *LONGITUDINAL method, *DISEASE complications

المؤلفون: Oksana Boyarchuk, Larysa Kostyuchenko, Hayane Akopyan, Anastasiia Bondarenko, Alla Volokha, Anna Hilfanova, Ihor Savchak, Liliia Nazarenko, Nataliia Yarema, Olha Urbas, Iryna Hrabovska, Oleksandr Lysytsia, Andrii Budzyn, Oksana Tykholaz, Mariana Ivanchuk, Olha Bastanohova, Erika Patskun, Nataliia Vasylenko, Yuriy Stepanovskyy, Liudmyla Chernyshova, Halyna Makukh

المصدر: Frontiers in Immunology, Vol 15 (2024)

مصطلحات موضوعية: Nijmegen breakage syndrome, NBN gene, c.657_661del5 variant, malignancies, diagnosis, incidence, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2024.1428724/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/8fb6ab1f5e0b463ebf94b246bec0cece

المؤلفون: Barrett, Emily S, Workman, Tomomi, Hazlehurst, Marnie F, Kauderer, Sophie, Loftus, Christine, Kannan, Kurunthachalam, Robinson, Morgan, Smith, Alicia K, Smith, Roger, Zhao, Qi, LeWinn, Kaja Z, Sathyanarayana, Sheela, Bush, Nicole R

مصطلحات موضوعية: Reproductive Medicine, Biomedical and Clinical Sciences, Clinical Research, Perinatal Period - Conditions Originating in Perinatal Period, Pediatric, Reproductive health and childbirth, Humans, Female, Infant, Newborn, Pregnancy, Corticotropin-Releasing Hormone, Polycyclic Aromatic Hydrocarbons, Placenta, Nijmegen Breakage Syndrome, Premature Birth, Vitamins, Phenanthrenes, polycyclic aromatic hydrocarbons, pregnancy, endocrine disruption, hormones, placenta, corticotropin releasing hormone, Clinical Sciences, Nutrition and Dietetics, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6c3382nc
https://escholarship.org/content/qt6c3382nc/qt6c3382nc.pdf

المؤلفون: Y. L. Mizernitskiy, I. E. Zorina, E. S. Ryngachenko, T. N. Kuzmina, E. V. Deripapa, Yu. A. Rodina, A. Yu. Shcherbina, Ю. Л. Мизерницкий, И. Е. Зорина, Е. С. Рынгаченко, Т. Н. Кузьмина, Е. В. Дерипапа, Ю. А. Родина, А. Ю. Щербина

المصدر: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 68, № 6 (2023); 94-98 ; Российский вестник перинатологии и педиатрии; Том 68, № 6 (2023); 94-98 ; 2500-2228 ; 1027-4065

مصطلحات موضوعية: первичный иммунодефицит, Nijmegen breakage syndrome, primary immunodeficiency, синдром Ниймеген

وصف الملف: application/pdf

Relation: https://www.ped-perinatology.ru/jour/article/view/1911/1440; Hasbaoui B.E., Elyajouri A., Abilkassem R., Agadr A. Nijmegen breakage syndrome: case report and review of literature. Pan African Med J 2020; 35: 85. DOI:10.11604/pamj.2020.35.85.14746; Kondratenko I., Paschenko O., Polyakov A., Bologov A. Nijmegen breakage syndrome. Advanc Exper Med Biol 2007; 601: 61–67. DOI:10.1007/978–0–387–72005–0_6; Taylor A.M.R., Rothblum-Oviatt C., Ellis N.A., Hickson I.D., Meyer S, Crawford T.O. et al. Chromosome instability syndromes. Nature Rev Dis Prim 2019; 5(1): 64. DOI:10.1038s41572–019–0113–0; Maciejczyk M., Mikoluc B., Pietrucha B., Heropolitanska-Pliszka E., Pac M., Motkowski R. et al. Oxidative stress, mitochondrial abnormalities and antioxidant defense in Ataxia-telangiectasia, Bloom syndrome and Nijmegen breakage syndrome. Redox Biol 2017; 11: 375–383. DOI:10.1016/j.redox.2016.12.030; Pastorczak A., Szczepanski T., Mlynarski W.; International Berlin-Frankfurt-Munster (I-BFM) ALL host genetic variation working group. Clinical course and therapeutic implications for lymphoid malignancies in Nijmegen breakage syndrome. Eur J Med Genet 2016; 59(3):126–132. DOI:10.1016/j.ejmg.2016.01.007; Мухина А.А., Кузьменко Н.Б., Родина Ю.А., Хорева А.Л., Моисеева А.А., Швец О.А. и др. Эпидемиология первичных иммунодефицитов в Российской Федерации. Педиатрия им. Г.Н. Сперанского 2020; 99(2): 16–32.; Каган М.Ю., Шулакова Н.С., Гумирова Р.А., Злодеева Е.А., Резник Н.В. Синдром Ниймеген (клиническое наблюдение). Педиатрическая фармакология 2012; 9(3): 102–105.; Дерипапа Е.В., Родина Ю.А., Лаберко А.Л., Балашов Д.Н., Мякова Н.В., Зимин С.Б. Синдром Ниймеген у детей: клинико-лабораторная характеристика и оценка эффективности различных видов терапии. Педиатрия 2018; 97(4): 116–124.; Marczak H., Heropolitańska-Pliszka E., Langfort R., Roik D., Grzela K. Nijmegen Breakage Syndrome Complicated With Primary Pulmonary Granulomas. Pediatrics 2018; 142(4): e20180122. DOI:10.1542/peds.2018–0122; Кондратенко И.В., Пащенко О.Е., Бологов А.А. Поражение легких при первичных иммунодефицитных состояниях. Под ред. Н.Н. Розиновой, Ю.Л. Мизерницкого. Орфанные заболевания легких у детей. М: Медпрактика-М, 2015: 170–186.; Varon R., Demuth I., Chrzanowska K.H. Nijmegen Breakage Syndrome. https://www.ncbi.nlm.nih.gov/books/NBK1176; Новак А.А., Мизерницкий Ю.Л. Первичная цилиарная дискинезия: состояние проблемы и перспективы. Медицинский совет 2021; 1: 276–285. DOI:10.21518/2079–701X-2021–1–276–285; Filipiuk A., Kozakiewicz A., Kośmider K., Lejman M., Zawitkowska J. Diagnostic and therapeutic approach to children with Nijmegen breakage syndrome in relation to development of lymphoid malignancies. Ann Agric Environ Med 2022; 29(2): 207–214. DOI:10.26444/aaem/143541; Chrzanowska K.H., Gregorek H., Dembowska-Bagińska B., Kalina M.A, Digweed M. Nijmegen breakage syndrome (NBS). Orphanet J Rare Dis 2012; 7: 13. DOI:10.1186/1750–1172–7–13; Dembowska-Baginska B., Perek D., Brozyna A., Wakulinska A., Olczak-Kowalczyk D., Gladkowska-Dura M. et al. Non-Hodgkin lymphoma (NHL) in children with Nijmegen Breakage syndrome (NBS). Pediatr Blood Cancer 2009; 52(2): 186–190. DOI:10.1002/pbc.21789; Batiuk E., Bassett M., Hakar M., Lin H.C., Hunter A.K. A rare case of primary gastric Hodgkin lymphoma in an adolescent with Nijmegen breakage syndrome. BMC Pediatrics 2023; 23: 189. DOI:10.1186/s12887–023–03929; https://www.ped-perinatology.ru/jour/article/view/1911

الاتاحة: https://www.ped-perinatology.ru/jour/article/view/1911
https://doi.org/10.21508/1027-4065-2023-68-6-94-98

المؤلفون: Elizabeth Batiuk, Mikelle Bassett, Melanie Hakar, Henry C. Lin, Anna K. Hunter

المصدر: BMC Pediatrics, Vol 23, Iss 1, Pp 1-5 (2023)

مصطلحات موضوعية: Nijmegen Breakage Syndrome, Primary gastric lymphoma, Childhood cancer, Hodgkin disease, Malnutrition, Case Report, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2431

URL الوصول: https://doaj.org/article/6a3716b9dd1649dd99bc5439bc95ba18

المصدر: Clinical Open-label Phase 2 Study of Low Dose Treosulfan Based Conditioning Regimen Efficacy in Hematopoietic Stem Cell Transplantation for Children With Nijmegen Breakage Syndrome

المؤلفون: K. I. Utesheva, E. S. Belyaeva, T. T. Valiev, A. A. Odzharova

المصدر: Онкогематология, Vol 17, Iss 3, Pp 73-82 (2022)

مصطلحات موضوعية: primary immunodeficiency, nijmegen breakage syndrome, hodgkin lymphoma, chemotherapy, complication, Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: https://oncohematology.abvpress.ru/ongm/article/view/560; https://doaj.org/toc/1818-8346; https://doaj.org/toc/2413-4023

URL الوصول: https://doaj.org/article/0c138a72cbe147d3a0f7a6f61a01d9f0

المؤلفون: Aleksandra Filipiuk, Agata Kozakiewicz, Kamil Kośmider, Katarzyna Karska, Monika Lejman, Joanna Zawitkowska

المصدر: Pediatria Polska, Vol 97, Iss 1, Pp 48-52 (2022)

مصطلحات موضوعية: lymphoma, antineoplastic agents, nijmegen breakage syndrome, microcephaly, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.termedia.pl/Clinical-manifestations-toxicities-and-outcome-of-two-children-with-Nijmegen-breakage-syndrome-and-lymphoid-malignancies-case-reports,127,46649,1,1.html; https://doaj.org/toc/0031-3939; https://doaj.org/toc/2300-8660

URL الوصول: https://doaj.org/article/f02c443659264abfbf668844ff031aaa

المؤلفون: Leite, Sara Silva, Lemos, Cláudia, Dias, Rita, Faria, Raquel, Marques, Laura

المصدر: NASCER E CRESCER - BIRTH AND GROWTH MEDICAL JOURNAL; Vol. 32 No. 3 (2023); 214-216 ; NASCER E CRESCER - BIRTH AND GROWTH MEDICAL JOURNAL; Vol. 32 N.º 3 (2023); 214-216 ; 2183-9417

مصطلحات موضوعية: immunodeficiency, Nijmegen breakage syndrome, microcephaly, imunodeficiência, síndrome de quebras de Nijmegen, microcefalia

وصف الملف: application/pdf

Relation: https://revistas.rcaap.pt/nascercrescer/article/view/25758/23486; https://revistas.rcaap.pt/nascercrescer/article/view/25758

الاتاحة: https://revistas.rcaap.pt/nascercrescer/article/view/25758

المؤلفون: Yesim Yilmaz Demirdag, Sudhir Gupta

المصدر: Pathogens; Volume 12; Issue 3; Pages: 440

مصطلحات موضوعية: inborn errors of immunity, immunodeficiency, DNA repair disorders, ataxia telangiectasia, infections, Nijmegen breakage syndrome, Bloom syndrome

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Immunological Responses and Immune Defense Mechanisms; https://dx.doi.org/10.3390/pathogens12030440

الاتاحة: https://doi.org/10.3390/pathogens12030440

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: Miller, C. H.¹, Payne, A. B.¹, Driggers, J.¹, Ellingsen, D.¹, Boylan, B.¹, Bean, C. J.¹

المصدر: Haemophilia. May2018, Vol. 24 Issue 3, pe116-e119. 4p. 1 Chart, 1 Graph.

مصطلحات موضوعية: *BLOOD coagulation factor VIII, *NIJMEGEN breakage syndrome, *BETHESDA criteria (Lynch syndrome)

المؤلفون: Krawczyk, Malgorzata A., Styczewska, Malgorzata, Birkholz-Walerzak, Dorota, Iliszko, Mariola, Lipska-Zietkiewicz, Beata S., Kosiak, Wojciech, Irga-Jaworska, Ninela, Izycka-Swieszewska, Ewa, Bien, Ewa

المصدر: Journal of Clinical Research in Pediatric Endocrinology; Jun2022, Vol. 14 Issue 2, p251-257, 7p

مصطلحات موضوعية: GERMINOMA, GERM cell tumors, HYPOGONADISM, OVARIAN tumors, NIJMEGEN breakage syndrome, TREATMENT effectiveness, IMMUNOPHENOTYPING

المؤلفون: Patel, Jay P, Puck, Jennifer M, Srinivasan, Rajgopal, Brown, Christina, Sunderam, Uma, Kundu, Kunal, Brenner, Steven E, Gatti, Richard A, Church, Joseph A

المصدر: Journal of clinical immunology. 35(2)

مصطلحات موضوعية: T-Lymphocytes, Humans, Cell Cycle Proteins, Receptors, Antigen, T-Cell, Nuclear Proteins, DNA, Circular, Neonatal Screening, Gene Rearrangement, T-Lymphocyte, Infant, Infant, Newborn, Male, Nijmegen Breakage Syndrome, High-Throughput Nucleotide Sequencing, Exome, exome sequencing, nibrin, Nijmegen breakage syndrome, SCID, T lymphopenia, TREC, Immunology

URL الوصول: https://escholarship.org/uc/item/0mr5p25v

المؤلفون: Svetlana O. Sharapova, Elena I. Golovataya, Elena V. Shepelevich, Yuliya E. Mareika, Irina E. Guryanova, Maria V. Stegantseva, Olga V. Aleinikova

المصدر: Central European Journal of Immunology, Vol 45, Iss 4, Pp 507-510 (2021)

مصطلحات موضوعية: nijmegen breakage syndrome, repeated cases, lymphoma, leukemia, prenatal diagnosis, chromosomal instability., Medicine

وصف الملف: electronic resource

Relation: https://www.termedia.pl/Nijmegen-breakage-syndrome-in-two-half-sibs-with-peripheral-T-cell-lymphoma-and-cortical-T-cell-acute-lymphoid-leukemia,10,43204,1,1.html; https://doaj.org/toc/1426-3912; https://doaj.org/toc/1644-4124

URL الوصول: https://doaj.org/article/a20a84d9471c4b629729f7993c913161

المؤلفون: Pastorczak, Agata, Attarbaschi, Andishe, Bomken, Simon, Borkhardt, Arndt, van der Werff ten Bosch, Jutte, Elitzur, Sarah, Gennery, Andrew R., Hlavackova, Eva, Kerekes, Arpád, Křenová, Zdenka, Mlynarski, Wojciech, Szczepanski, Tomasz, Wassenberg, Tessa, Loeffen, Jan

المصدر: Cancers; Apr2022, Vol. 14 Issue 8, p2000, 23p

مصطلحات موضوعية: CONSENSUS (Social sciences), ATAXIA telangiectasia, NIJMEGEN breakage syndrome, HEMATOLOGIC malignancies, DNA damage

المؤلفون: Mariya KINASH, Oksana BOYARCHUK, Oleksandra SHULHAI, Yaryna BOYKO, Tetyana HARIYAN

المصدر: Archives of the Balkan Medical Union, Vol 55, Iss 3, Pp 510-517 (2020)

مصطلحات موضوعية: ataxia-telangiectasia, nijmegen breakage syndrome, dna repair, primary immunodeficiency, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://umbalk.org/wp-content/uploads/2020/09/19.PRIMARY-IMMUNODEFICIENCIES-ASSOCIATED-WITH-DNA-DAMAGE.pdf; https://doaj.org/toc/1584-9244; https://doaj.org/toc/2558-815X

URL الوصول: https://doaj.org/article/9f57ed72fe7344019d14fb6e739000fc

المؤلفون: Monika Włodarczyk, Monika Lejman

المصدر: Molecular Cytogenetics, Vol 13, Iss 1, Pp 1-9 (2020)

مصطلحات موضوعية: Nijmegen breakage syndrome, Non-Hodgkin lymphoma, Gene, FISH, Microarray, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13039-020-00505-2; https://doaj.org/toc/1755-8166

URL الوصول: https://doaj.org/article/0982d6c78fb94a4485c2bcb33a4cd01f