المؤلفون: Sarbay, H., Ay, Yılmaz

مصطلحات موضوعية: Bone marrow failure, Acute leukemias, Macrocytosis, acute leukemia, aplastic anemia, Article, Blackfan Diamond anemia, bone marrow depression, child, clinical feature, congenital dyserythropoietic anemia, controlled study, cytopenia, disease severity, Down syndrome, Fanconi anemia, female, hematologic malignancy, human, laboratory test, major clinical study, male, mean corpuscular volume, megalocytosis, microcytic anemia, myelodysplastic syndrome, myeloproliferative disorder, normochromic normocytic anemia, pernicious anemia, retrospective study

Relation: Pan African Medical Journal; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11499/10961; https://doi.org/10.11604/pamj.2018.31.54.15498; 31; WOS:000454305900002

الاتاحة: https://hdl.handle.net/11499/10961
https://doi.org/10.11604/pamj.2018.31.54.15498

المؤلفون: M.R. Velletri, M. Valenzise, M. Wasniewska, S. Arasi, A. Santisi, M. Romeo, E. Pitrolo, S. Santucci, D. Corica, R. Crisafulli, G. Zirilli

المصدر: La Pediatria Medica e Chirurgica, Vol 35, Iss 5 (2013)

مصطلحات موضوعية: Blackfan-Diamond anemia, Turner phenotype, RPL5 mutation, Pediatrics, RJ1-570, Surgery, RD1-811

وصف الملف: electronic resource

Relation: http://www.pediatrmedchir.org/index.php/pmc/article/view/33; https://doaj.org/toc/0391-5387; https://doaj.org/toc/2420-7748

URL الوصول: https://doaj.org/article/537d00bcd85d4fa4ab67343fe10e7f1f

المؤلفون: Minniti F, Mauro M, Chinello M, De Bortoli M, Balter R, Bonetti E, Zaccaron A, Vitale V, Infante M, Lo Cascio G, Cesaro S.

المساهمون: Minniti, F, Mauro, M, Chinello, M, De Bortoli, M, Balter, R, Bonetti, E, Zaccaron, A, Vitale, V, Infante, M, Lo Cascio, G, Cesaro, S.

مصطلحات موضوعية: Aspergillosis, Blackfan Diamond Anemia, Stem Cell Transplantation

Relation: ispartofbook:Program and Abstract Book of 11th PDWP Congress; 11th PDWP, IDWP, IEWP and 6th Paediatric Nurse Group Meeting; firstpage:9; lastpage:9; numberofpages:1; http://hdl.handle.net/11562/985580

الاتاحة: http://hdl.handle.net/11562/985580

المؤلفون: Minniti, F, Mauro, M, Chinello, M, De Bortoli, M, Balter, R, Bonetti, E, Zaccaron, A, Vitale, V, Infante, M, Lo Cascio, G, Cesaro, S.

مصطلحات موضوعية: Blackfan Diamond Anemia, Aspergillosis, Aspergillosis, Blackfan Diamond Anemia, Stem Cell Transplantation, Stem Cell Transplantation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1943::03393dc8de6019032f6f7c318ee06b60
http://hdl.handle.net/11562/985580

المؤلفون: Yilmaz Ay, Hakan Sarbay

المصدر: The Pan African Medical Journal

مصطلحات موضوعية: Male, erythrocyte disorder, Down syndrome, retrospective study, myeloproliferative disorder, hematologic disease, Macrocytosis, preschool child, Clinical study, cyanocobalamin deficiency, hemic and lymphatic diseases, Medicine, cytopenia, acute leukemia, Child, mean corpuscular volume, pernicious anemia, General Medicine, female, laboratory test, Child, Preschool, Hematologic Neoplasms, Blackfan Diamond anemia, disease severity, medicine.medical_specialty, aplastic anemia, Adolescent, Erythrocytes, Abnormal, complication, bone marrow failure, acute leukemias, Article, microcytic anemia, Humans, controlled study, human, Intensive care medicine, congenital dyserythropoietic anemia, megalocytosis, Retrospective Studies, Acute leukemias, business.industry, Research, normochromic normocytic anemia, Infant, Vitamin B 12 Deficiency, medicine.disease, major clinical study, Hematologic Diseases, Bone marrow failure, clinical feature, myelodysplastic syndrome, bone marrow depression, Fanconi anemia, hematologic malignancy, pathology, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d75e4fc946cbaa36d602a9e5c95dc45
https://hdl.handle.net/11499/10961

المؤلفون: M.A. Zarco Fernandez, I. Perez Casas, B. De Alba Iriarte, M.M. Gradin Purroy, D. Monzon Casado, M. Lacasta Esain, M.E. Redin Sarasola, J.A. Wong Arteta

المصدر: Clinica Chimica Acta. 493:S200

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Biochemistry (medical), Clinical Biochemistry, medicine, General Medicine, Clinical case, Blackfan diamond anemia, business, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f9ebe0acd8e1dac0f5e68b9c28a9254e
https://doi.org/10.1016/j.cca.2019.03.416

المؤلفون: Rio, Sarah

Thesis Advisors: Sorbonne Paris Cité, Da Costa, Lydie

مصطلحات موضوعية: Erythropoïèse, Fer, Hème, FLVCR1, Anémie de Blackfan-Diamond, HSP70, GATA-1, Erythropoiesis, Iron, Haem, FLVCR1a, Blackfan-Diamond anemia, 611.018 1

الاتاحة: http://www.theses.fr/2016USPCB055/document

المؤلفون: Rio, Sarah

المساهمون: Centre de recherche sur l'Inflammation (CRI (UMR_S_1149 / ERL_8252 / U1149)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Sorbonne Paris Cité, Lydie Da Costa

المصدر: Biologie cellulaire. Université Sorbonne Paris Cité, 2016. Français. ⟨NNT : 2016USPCB055⟩

مصطلحات موضوعية: Anémie de Blackfan-Diamond, Erythropoïèse, FLVCR1a, Iron, Blackfan-Diamond anemia, Hème, Erythropoiesis, FLVCR1, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, GATA-1, HSP70, Haem, Fer

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______212::a77fb4b46c8a716657f344766ea70957
https://tel.archives-ouvertes.fr/tel-01759755

المؤلفون: Stefania Arasi, Malgorzata Wasniewska, M. Romeo, E. Pitrolo, Domenico Corica, R. Crisafulli, M.R. Velletri, Mariella Valenzise, Simona Santucci, A. Santisi, Giuseppina Zirilli

المصدر: La Pediatria Medica e Chirurgica, Vol 35, Iss 5 (2013)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Body height, Anemia, media_common.quotation_subject, Karyotype, lcsh:Surgery, Turner Syndrome, Short stature, hemic and lymphatic diseases, Turner syndrome, medicine, Humans, Abnormalities, Multiple, Girl, Blackfan diamond anemia, Child, media_common, Anemia, Diamond-Blackfan, RPL5 mutation, business.industry, Blackfan-Diamond anemia, lcsh:RJ1-570, lcsh:Pediatrics, Turner-like phenotype, lcsh:RD1-811, medicine.disease, Body Height, Turner phenotype, Pediatrics, Perinatology and Child Health, Noonan syndrome, Surgery, Female, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7dc5841fe6e5489d92fda69bd987adb
http://www.pediatrmedchir.org/index.php/pmc/article/view/33

المؤلفون: Rio, Sarah

المساهمون: Centre de recherche sur l'Inflammation (CRI (UMR_S_1149 / ERL_8252 / U1149)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Sorbonne Paris Cité, Lydie Da Costa

المصدر: https://theses.hal.science/tel-01759755 ; Biologie cellulaire. Université Sorbonne Paris Cité, 2016. Français. ⟨NNT : 2016USPCB055⟩.

مصطلحات موضوعية: Erythropoiesis, Iron, Haem, FLVCR1a, Blackfan-Diamond anemia, HSP70, GATA-1, Erythropoïèse, Fer, Hème, FLVCR1, Anémie de Blackfan-Diamond, [SDV.BC]Life Sciences [q-bio]/Cellular Biology

Relation: NNT: 2016USPCB055; tel-01759755; https://theses.hal.science/tel-01759755; https://theses.hal.science/tel-01759755/document; https://theses.hal.science/tel-01759755/file/va_rio_sarah.pdf

الاتاحة: https://theses.hal.science/tel-01759755
https://theses.hal.science/tel-01759755/document
https://theses.hal.science/tel-01759755/file/va_rio_sarah.pdf

المؤلفون: Rio, Sarah

المساهمون: Sorbonne Paris Cité, Da Costa, Lydie

مصطلحات موضوعية: Erythropoïèse, Fer, Hème, FLVCR1, Anémie de Blackfan-Diamond, HSP70, GATA-1, Erythropoiesis, Iron, Haem, FLVCR1a, Blackfan-Diamond anemia, 611.018 1

Relation: http://www.theses.fr/2016USPCB055/document

الاتاحة: http://www.theses.fr/2016USPCB055/document

المؤلفون: Gil Tchernia, Emanuela Garelli, Irma Dianzani, Andrew Chatr-aryamontri, Mara Angelini, Ugo Ramenghi, Fabrizio Loreni

المصدر: Human Mutation. 24:526-533

مصطلحات موضوعية: RPS19, DNA Mutational Analysis, Messenger, Nonsense-mediated decay, nonsense mutation, NonStop, medicine.disease_cause, fibroblast, Diamond-Blackfan anemia, Diamond-Blackfan, Complementary, genetic stability, Missense mutation, Northern, gene mutation, Diamond–Blackfan anemia, Cells, Cultured, Genetics (clinical), Anemia, Diamond-Blackfan, Genetics, Mutation, Cultured, messenger RNA, Blotting, Reverse Transcriptase Polymerase Chain Reaction, Settore BIO/11, allele, article, Anemia, gene expression regulation, RNA analysis, Nonsense mediated decay, Stop codon, unclassified drug, priority journal, Blackfan Diamond anemia, Codon, Terminator, Sequence Analysis, Ribosomal Proteins, DNA, Complementary, regulatory mechanism, congenital malformation, Cells, rare disease, Biology, Cell Line, ribosome protein, RNA degradation, Ribosomal protein S19, medicine, protein s19, stop codon, Humans, NMD, controlled study, RNA, Messenger, human, Terminator, Codon, Gene, Alleles, gene identification, DBA, nonstop decay, lymphoblastoid cell, gene deletion, human cell, missense mutation, congenital hypoplastic anemia, nucleotide sequence, Sequence Analysis, DNA, DNA, Blotting, Northern, medicine.disease, Molecular biology, protein analysis, Protein Biosynthesis, RNA, nonsense mediated decay, Gene Deletion

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4550681708c020ec10bb8d692954eb4e
https://doi.org/10.1002/humu.20117

المؤلفون: M. R. Velletri, A. Santisi, M. Romeo, E. Pitrolo, S. Santucci, D. Corica, R. Crisafulli, G. Zirilli, VALENZISE, Mariella, WASNIEWSKA, Malgorzata Gabriela, ARASI, STEFANIA

المساهمون: Velletri, M. R., Valenzise, Mariella, Wasniewska, Malgorzata Gabriela, Arasi, Stefania, Santisi, A., Romeo, M., Pitrolo, E., Santucci, S., Corica, D., Crisafulli, R., Zirilli, G.

مصطلحات موضوعية: Blackfan-Diamond anemia, Turner-like phenotype

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/24516945; volume:35; issue:5228; firstpage:228; lastpage:230; numberofpages:3; journal:PEDIATRIA MEDICA E CHIRURGICA; http://hdl.handle.net/11570/2671317; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84897018713

الاتاحة: http://hdl.handle.net/11570/2671317

المؤلفون: Dianzani, I, LORENI, FABRIZIO

المساهمون: Dianzani, I, Loreni, F

مصطلحات موضوعية: mutant protein, ribosome protein, ribosome protein s 19, unclassified drug, Blackfan Diamond anemia, diagnostic test, dyserythropoiesi, editorial, gene deletion, gene mutation, human, nonhuman, pathogenesi, protein function, Anemia, Diamond-Blackfan, Incidence, Mutation, Ribosomal Proteins, Settore BIO/11 - BIOLOGIA MOLECOLARE

Relation: info:eu-repo/semantics/altIdentifier/pmid/18978295; info:eu-repo/semantics/altIdentifier/wos/WOS:000260653000001; volume:93; issue:11; firstpage:1601; lastpage:1604; journal:HAEMATOLOGICA; http://hdl.handle.net/2108/27751; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-55549110774

الاتاحة: http://hdl.handle.net/2108/27751
https://doi.org/10.3324/haematol.2008.000513

المؤلفون: Angelini, M, Mercaldo, V, Gibello, L, Santoro, C, Dianzani, I, CANNATA, STEFANO, LORENI, FABRIZIO

المساهمون: Angelini, M, Cannata, S, Mercaldo, V, Gibello, L, Santoro, C, Dianzani, I, Loreni, F

مصطلحات موضوعية: complementary DNA, messenger RNA, protein S19, ribosome protein, RNA 18S, article, Blackfan Diamond anemia, cellular distribution, controlled study, gene expression, gene insertion, genetic association, genetic transfection, human, human cell, missense mutation, nucleolu, pathophysiology, phenotype, priority journal, protein assembly, protein function, protein localization, protein stability, stop codon, Anemia, Diamond-Blackfan, Cell Line, Centrifugation, Density Gradient

Relation: info:eu-repo/semantics/altIdentifier/pmid/17517689; info:eu-repo/semantics/altIdentifier/wos/WOS:000248483500007; volume:16; issue:14; firstpage:1720; lastpage:1727; journal:HUMAN MOLECULAR GENETICS; http://hdl.handle.net/2108/26164; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-34547742640

الاتاحة: http://hdl.handle.net/2108/26164
https://doi.org/10.1093/hmg/ddm120

المؤلفون: Irma Dianzani, Fabrizio Loreni

مصطلحات موضوعية: Ribosomal Proteins, congenital, hereditary, and neonatal diseases and abnormalities, Anemia, editorial, Biology, ribosome protein, mutant protein, hemic and lymphatic diseases, Diamond-Blackfan, parasitic diseases, medicine, Humans, gene mutation, human, Diamond–Blackfan anemia, ribosome protein s 19, unclassified drug, Blackfan Diamond anemia, diagnostic test, dyserythropoiesis, gene deletion, nonhuman, pathogenesis, protein function, Anemia, Diamond-Blackfan, Incidence, Mutation, Settore BIO/11, Hematology, Ribosomal RNA, medicine.disease, Immunology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3c48db587a6e491107056d7e3674df5
http://hdl.handle.net/2108/27751

المؤلفون: Chiocchetti, A, Gibello, L, Carando, A, Aspesi, A, Secco, P, Garelli, E, ii, LORENI, FABRIZIO

المساهمون: Chiocchetti, A, Gibello, L, Carando, A, Aspesi, A, Secco, P, Garelli, E, Loreni, F, Ii

مصطلحات موضوعية: complementary DNA, endopeptidase La, erythropoietin, growth factor, oncoprotein, protein s19, ribosome protein, steroid, unclassified drug, article, Blackfan Diamond anemia, blood transfusion, controlled study, embryo, enzyme assay, erythropoiesi, female, fetu, gene mutation, gestation period, human, human cell, human tissue, liver, male, nucleotide sequence, protein binding, protein expression, protein phosphorylation, protein protein interaction

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000233221600002; volume:90; issue:11; firstpage:1453; lastpage:1462; journal:HAEMATOLOGICA; http://hdl.handle.net/2108/37088; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-27844570832

الاتاحة: http://hdl.handle.net/2108/37088

المؤلفون: Claudio Santoro, L. Gibello, Irma Dianzani, Stefano Cannata, Mara Angelini, Fabrizio Loreni, Valentina Mercaldo

مصطلحات موضوعية: Sucrose, genetic association, Nucleolus, complementary DNA, messenger RNA, protein S19, ribosome protein, RNA 18S, article, Blackfan Diamond anemia, cellular distribution, controlled study, gene expression, gene insertion, genetic transfection, human, human cell, missense mutation, nucleolus, pathophysiology, phenotype, priority journal, protein assembly, protein function, protein localization, protein stability, stop codon, Anemia, Diamond-Blackfan, Cell Line, Centrifugation, Density Gradient, DNA, Complementary, Gene Expression Regulation, Hela Cells, Humans, Models, Biological, Mutation, Mutation, Missense, Proteins, Ribosomal Proteins, Ribosomes, Subcellular Fractions, Centrifugation, medicine.disease_cause, Ribosome, Models, Diamond-Blackfan, Complementary, Diamond–Blackfan anemia, Genetics (clinical), Genetics, Settore BIO/11, Anemia, General Medicine, Stop codon, Density Gradient, Biology, Ribosomal protein, Ribosomal protein S19, medicine, Molecular Biology, DNA, Ribosomal RNA, medicine.disease, Biological, Molecular biology, Missense

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10a7fefeba178b23055e2c9e2e22e80a
http://hdl.handle.net/2108/26164

المؤلفون: Ultrasound Obstet Gynecol

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.fetalmedicine.com/old/fmf/2002_19.pdf.

مصطلحات موضوعية: Blackfan–Diamond anemia, Dyserythropoietic anemia, Fetal anemia, First trimester, Nuchal translucency

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.618.9142; http://www.fetalmedicine.com/old/fmf/2002_19.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.618.9142
http://www.fetalmedicine.com/old/fmf/2002_19.pdf

المؤلفون: Hannan, Katherine, Sanij, Elaine, Rothblum, Lawrence I., Hannan, Ross, Pearson, Richard B

المصدر: Biochimica et Biophysica Acta - Gene Regulatory Mechanisms

مصطلحات موضوعية: Keywords: cisplatin, cx 5461, dactinomycin, DNA directed RNA polymerase, fluorouracil, irinotecan, mitomycin, quarfloxin, temsirolimus, topotecan, unclassified drug, Blackfan Diamond anemia, Bloom syndrome, Cockayne syndrome, de Lange syndrome, disease association, Atrophy, Cancer, Hypertrophy, Oncogene, Ribosomopathies, RNA polymerase I transcription

Relation: http://hdl.handle.net/1885/67141; https://openresearch-repository.anu.edu.au/bitstream/1885/67141/5/a383154xPUB1405_2013.pdf.jpg; https://openresearch-repository.anu.edu.au/bitstream/1885/67141/7/01_Hannan_Dysregulation_of_RNA_2013.pdf.jpg

الاتاحة: http://hdl.handle.net/1885/67141
https://doi.org/10.1016/j.bbagrm.2012.10.014
https://openresearch-repository.anu.edu.au/bitstream/1885/67141/5/a383154xPUB1405_2013.pdf.jpg
https://openresearch-repository.anu.edu.au/bitstream/1885/67141/7/01_Hannan_Dysregulation_of_RNA_2013.pdf.jpg