المؤلفون: Mara Musri, Melina, Venturi, Veronica, Ferrer-Cortès, Xènia, Romero-Cortadellas, Lídia, Hernández, Gonzalo, Leoz, Pilar, Ricard Andrés, María Pilar, Morado, Marta, Fernández Valle, María del Carmen, Beneitez Pastor, David, Ortuño Cabrero, Ana, Moreno Gamiz, Maite, Senent Peris, Leonor, Perez-Valencia, Amanda Isabel, Pérez-Montero, Santiago, Tornador, Cristian, Sánchez, Mayka

مصطلحات موضوعية: Anèmia diseritropoètica congènita, CDA tipus II, SEC23B, Anèmies hereditàries, Eritropoesi ineficaç, Malaltia rara de la sang, Mutacions, Variants, Anemia diseritropoyética congénita, CDA tipo II, Anemias hereditarias, Eritropoyesis ineficaz, Enfermedad sanguínea rara, Mutaciones, Variantes, Congenital dyserythropoietic anemia, CDA type II, Hereditary anemias, Ineffective erythropoiesis, Rare blood disease, Mutations

الوقت: 61

وصف الملف: application/pdf

العلاقة: International Journal of Molecular Sciences; 24;12; Mara Musri, Melina; Venturi, Veronica; Ferrer-Cortès, Xènia [et al.]. New cases and mutations in SEC23B gene causing congenital dyserythropoietic anemia type II. International Journal of Molecular Sciences, 2023, 24(12), 9935. Disponible en: . Fecha de acceso: 21 sep. 2023. DOI:10.3390/ijms24129935; http://hdl.handle.net/20.500.12328/3820Test; https://dx.doi.org/10.3390/ijms24129935Test

الإتاحة: https://doi.org/20.500.12328/3820Test
https://doi.org/10.3390/ijms24129935Test
https://hdl.handle.net/20.500.12328/3820Test

المؤلفون: Melina Mara Musri, Veronica Venturi, Xènia Ferrer-Cortès, Lídia Romero-Cortadellas, Gonzalo Hernández, Pilar Leoz, María Pilar Ricard Andrés, Marta Morado, María del Carmen Fernández Valle, David Beneitez Pastor, Ana Ortuño Cabrero, Maite Moreno Gamiz, Leonor Senent Peris, Amanda Isabel Perez-Valencia, Santiago Pérez-Montero, Cristian Tornador, Mayka Sánchez

المصدر: International Journal of Molecular Sciences; Volume 24; Issue 12; Pages: 9935

مصطلحات موضوعية: congenital dyserythropoietic anemia, CDA type II, SEC23B, hereditary anemias, ineffective erythropoiesis, rare blood disease, mutations, variants

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms24129935Test

الإتاحة: https://doi.org/10.3390/ijms24129935Test

المؤلفون: Faleiro, Bárbara

المساهمون: Faustino, Paula, Rebelo, Maria Teresa, Repositório Científico do Instituto Nacional de Saúde

مصطلحات موضوعية: Anemia, Anemias Hereditárias, Hemoglobinopatias, IRIDA, Next-Generation Sequencing, Doenças Raras, Doenças Genéticas, TMPRSS6, HFE, Portadores de β-talassémia, Anemia Ferropénica, Anemia Microcítica, Índices Hematológicos, Hereditary Anemias, Hemoglobinopathies, Genetic Variation, β-thalassemia Trait, Iron Deficiency Anemia, Microcytic Anemia, Hematological Indices

وصف الملف: application/pdf

الإتاحة: http://hdl.handle.net/10400.18/7523Test

المؤلفون: Achille Iolascon, Roberta Russo, Immacolata Andolfo

المصدر: Frontiers in Physiology, Vol 12 (2022)

مصطلحات موضوعية: hereditary anemias, next-generation sequencing, transcriptomics, genetic diagnosis, genetic variants, transgenic animal model, Physiology, QP1-981

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fphys.2021.822156/fullTest; https://doaj.org/toc/1664-042XTest

الوصول الحر: https://doaj.org/article/923658708ac04725972f3d684e4e4935Test

المؤلفون: Roberta Russo, Roberta Marra, Barbara Eleni Rosato, Achille Iolascon, Immacolata Andolfo

المصدر: Frontiers in Physiology, Vol 11 (2020)

مصطلحات موضوعية: hereditary anemias, next generation sequencing, differential diagnosis, chromatin 3D architecture, genetic test, Physiology, QP1-981

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fphys.2020.613559/fullTest; https://doaj.org/toc/1664-042XTest

الوصول الحر: https://doaj.org/article/4c8f86b655a5461a85c02bf4f292d220Test

المؤلفون: Sánchez, Melina Mara Musri, Veronica Venturi, Xènia Ferrer-Cortès, Lídia Romero-Cortadellas, Gonzalo Hernández, Pilar Leoz, María Pilar Ricard Andrés, Marta Morado, María del Carmen Fernández Valle, David Beneitez Pastor, Ana Ortuño Cabrero, Maite Moreno Gamiz, Leonor Senent Peris, Amanda Isabel Perez-Valencia, Santiago Pérez-Montero, Cristian Tornador, Mayka

المصدر: International Journal of Molecular Sciences; Volume 24; Issue 12; Pages: 9935

مصطلحات موضوعية: congenital dyserythropoietic anemia, CDA type II, SEC23B, hereditary anemias, ineffective erythropoiesis, rare blood disease, mutations, variants

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=multidiscipl::3a6caa2b2829e323398525f38284c906Test

المؤلفون: Iolascon A, Andolfo I, Barcellini W, Corcione F, Garçon L, De Franceschi L, Pignata C, Graziadei G, Pospisilova D, Rees DC, de Montalembert M, Rivella S, Gambale A, Russo R, RIBEIRO DA COSTA, LUZIA, Vives-Corrons J, Martinez PA, Kattamis A, Gulbis B, Cappellini MD, Roberts I, Tamary H2, Working Study Group on Red Cells and Iron of the EHA.

المساهمون: Iolascon, A, Andolfo, I, Barcellini, W, Corcione, F, Garçon, L, De Franceschi, L, Pignata, C, Graziadei, G, Pospisilova, D, Rees, Dc, de Montalembert, M, Rivella, S, Gambale, A, Russo, R, RIBEIRO DA COSTA, Luzia, Vives-Corrons, J, Martinez, Pa, Kattamis, A, Gulbis, B, Cappellini, Md, Roberts, I, Tamary, H2, Working Study Group on Red Cells and Iron of the, Eha.

مصطلحات موضوعية: splenectomy, hereditary anemias

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000406613200016; volume:102; firstpage:1304; lastpage:1313; numberofpages:10; journal:HAEMATOLOGICA; http://hdl.handle.net/11562/975175Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85026744993

الإتاحة: http://hdl.handle.net/11562/975175Test

المؤلفون: Achille, Iolascon, Roberta, Russo, Immacolata, Andolfo

المصدر: Frontiers in Physiology

مصطلحات موضوعية: transcriptomics, genetic diagnosis, Editorial, Physiology, genetic variants, next-generation sequencing, transgenic animal model, hereditary anemias

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::64abe44486bd33d00cfd144a1f3c53e1Test
https://pubmed.ncbi.nlm.nih.gov/35069269Test

المؤلفون: Maria Carolina Costa Melo Svidnicki, Sara T.O. Saad, Fernando Ferreira Costa, A Congrains-Castillo, G K Zanetta

المصدر: Annals of Hematology

مصطلحات موضوعية: Hemolytic anemia, Male, Genetic counseling, Population, Hereditary spherocytosis, Spherocytosis, Hereditary, Biology, Genetic analysis, DNA sequencing, medicine, Humans, education, Gene, Anemia, Dyserythropoietic, Congenital, Genetics, education.field_of_study, Hereditary anemias, RBC membrane defect, High-Throughput Nucleotide Sequencing, Spectrin, Hematology, General Medicine, medicine.disease, NGS, Mutation, Original Article, Female, Congenital dyserythropoietic anemia, Brazil

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95ac28085a92e347a255dc7a47f20cbeTest
http://europepmc.org/articles/PMC7241966Test

المؤلفون: САВЧЕНКО В.Г., АБДУЛКАДЫРОВ К.М., МАСЧАН А.А., СМЕТАНИНА Н.С., ГОЛЕНКОВ А.К., КОХНО АЛИНА ВЛАДИМИРОВНА, СЫСОЕВА Е.П., САВИНОВА М.Т., ШЕЛЕХОВА Т.В., ФИНОГЕНОВА Н.А., ЗУБАРОВСКАЯ Л.С., КАПЛАНОВ К.Д., КРАВЧЕНКО Е.Г., ЛОПАТИНА Е.Г.

مصطلحات موضوعية: ДЕФЕРАЗИРОКС,DEFERASIROX,ПЕРЕГРУЗКА ЖЕЛЕЗОМ,IRON OVERLOAD,ХЕЛАТОРНАЯ ТЕРАПИЯ,МИЕЛОДИСПЛАСТИЧЕСКИЙ СИНДРОМ,MYELODYSPLASTIC SYNDROME,ТАЛАССЕМИЯ,THALASSEMIA,НАСЛЕДСТВЕННЫЕ АНЕМИИ,HEREDITARY ANEMIAS,АНЕМИЯ ДАЙМОНДА-БЛЭКФАНА,АНЕМИЯ ФАНКОНИ,СИДЕРОБЛАСТНАЯ АНЕМИЯ,SIDEROBLASTIC ANEMIA,ПАРЦИАЛЬНАЯ КРАСНОКЛЕТОЧНАЯ АПЛАЗИЯ,DIAMOND-BLACKFAN''S ANEMIA,FANCONI''S ANEMIA,PARTIAL RED CELL ANEMIA

وصف الملف: text/html

الإتاحة: http://cyberleninka.ru/article/n/otkrytoe-mnogotsentrovoe-issledovanie-deferaziroksa-v-lechenii-posttransfuzionnoy-peregruzki-zhelezom-u-patsientov-sTest
http://cyberleninka.ru/article_covers/16933659.pngTest