يعرض 1 - 10 نتائج من 890 نتيجة بحث عن '"shwachman-diamond syndrome"', وقت الاستعلام: 0.80s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Spectrum of diabetes mellitus in patients with Shwachman-Diamond syndrome: case report and review of the literature.

    المؤلفون: Navasardyan, Lusine V.1 (AUTHOR), Furlan, Ingrid2 (AUTHOR), Brandt, Stephanie3 (AUTHOR), Schulz, Ansgar2 (AUTHOR), Wabitsch, Martin3 (AUTHOR), Denzer, Christian3 (AUTHOR) christian.denzer@uniklinik-ulm.de

    المصدر: Italian Journal of Pediatrics. 8/29/2023, Vol. 49 Issue 1, p1-10. 10p.

    مصطلحات موضوعية: *DIABETES, *SHWACHMAN-Diamond Syndrome

    النص الكامل

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  2. 2
    دورية أكاديمية
    Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature.

    المؤلفون: Veltra, Danai, Marinakis, Nikolaos M., Kotsios, Ioannis, Delaporta, Polyxeni, Kekou, Kyriaki, Kosma, Konstantina, Traeger-Synodinos, Joanne, Sofocleous, Christalena

    المصدر: Children; Jun2024, Vol. 11 Issue 6, p705, 14p

    مصطلحات موضوعية: DNA analysis, CESAREAN section, ANEMIA, MYELODYSPLASTIC syndromes, STAPHYLOCOCCAL diseases, DIFFERENTIAL diagnosis, FETAL growth retardation, FAMILY history (Medicine), PERINATAL death, PRENATAL diagnosis, SEVERITY of illness index, THROMBOCYTOPENIA, BIOINFORMATICS, GENE expression, SHOCK (Pathology), HEMOLYTIC anemia, DISEASE relapse, RESPIRATORY distress syndrome, ASPHYXIA neonatorum, GENETIC mutation, SHWACHMAN-Diamond Syndrome, GENOTYPES, GENETIC testing, NEUTROPENIA, SEQUENCE analysis, PHENOTYPES, DISEASE complications, SYMPTOMS

    مصطلحات جغرافية: GREECE

    النص الكامل

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  3. 3
    دورية أكاديمية
    Growth Charts for Shwachman–Diamond Syndrome at Ages 0 to 18 Years.

    المؤلفون: Pegoraro, Anna, Bezzerri, Valentino, Tridello, Gloria, Brignole, Cecilia, Lucca, Francesca, Pintani, Emily, Danesino, Cesare, Cesaro, Simone, Fioredda, Francesca, Cipolli, Marco

    المصدر: Cancers; Apr2024, Vol. 16 Issue 7, p1420, 10p

    مصطلحات موضوعية: BODY mass index, RESEARCH funding, BODY weight, HUMAN growth, DESCRIPTIVE statistics, STATURE, BONE marrow diseases, FAILURE to thrive syndrome, SHWACHMAN-Diamond Syndrome, ADOLESCENCE, CHILDREN

    مصطلحات جغرافية: ITALY

    النص الكامل

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  4. 4
    دورية أكاديمية
    Clinical features, epidemiology, and treatment of Shwachman-Diamond syndrome: a systematic review

    المؤلفون: Xue Han, Shuanglong Lu, Changjuan Gu, Zhuli Bian, Xiaotian Xie, Xiaohong Qiao

    المصدر: BMC Pediatrics, Vol 23, Iss 1, Pp 1-9 (2023)

    مصطلحات موضوعية: Shwachman-Diamond syndrome, Clinical feature, Exocrine pancreatic insufficiency, Bone marrow failure syndrome, Failure to thrive, Pediatrics, RJ1-570

    وصف الملف: electronic resource

    العلاقة: https://doaj.org/toc/1471-2431Test

    الوصول الحر: https://doaj.org/article/0e95a94791b74435bb9044224038c78cTest

    View record in DOAJ النص الكامل

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  5. 5
    دورية أكاديمية
    Spectrum of diabetes mellitus in patients with Shwachman-Diamond syndrome: case report and review of the literature

    المؤلفون: Lusine V. Navasardyan, Ingrid Furlan, Stephanie Brandt, Ansgar Schulz, Martin Wabitsch, Christian Denzer

    المصدر: Italian Journal of Pediatrics, Vol 49, Iss 1, Pp 1-10 (2023)

    مصطلحات موضوعية: Shwachman-Diamond syndrome, Pancreatic exocrine insufficiency, Diabetes mellitus, Case report, Pediatrics, RJ1-570

    وصف الملف: electronic resource

    العلاقة: https://doaj.org/toc/1824-7288Test

    الوصول الحر: https://doaj.org/article/0496082a937d46b28f99ccc85aad6737Test

    View record in DOAJ النص الكامل

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  6. 6
    دورية أكاديمية
    Inherited causes of exocrine pancreatic insufficiency in pediatric patients: clinical presentation and laboratory testing.

    المؤلفون: Yuzyuk, Tatiana N., Nelson, Heather A., Johnson, Lisa M.

    المصدر: Critical Reviews in Clinical Laboratory Sciences; Aug2023, Vol. 60 Issue 5, p366-381, 16p

    مصطلحات موضوعية: PANCREATIC physiology, CLINICAL pathology, EXOCRINE pancreatic insufficiency, CYSTIC fibrosis, SHWACHMAN-Diamond Syndrome


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  7. 7
    دورية أكاديمية
    Inherited bone marrow failure syndromes: phenotype as a tool for early diagnostic suspicion at a major reference center in Mexico

    المؤلفون: Paula Leal-Anaya, Tamara N. Kimball, Ana Lucia Yanez-Felix, Moisés Ó. Fiesco-Roa, Benilde García-de Teresa, Angélica Monsiváis, Rocío Juárez-Velázquez, Esther Lieberman, Camilo Villarroel, Emiy Yokoyama, Liliana Fernández-Hernández, Anet Rivera-Osorio, David Sosa, Maria Magdalena Ortiz Sandoval, Norma López-Santiago, Sara Frías, Victoria del Castillo, Alfredo Rodríguez

    المصدر: Frontiers in Genetics, Vol 14 (2024)

    مصطلحات موضوعية: inherited bone marrow failure syndrome, dyskeratosis congenita, Diamond–Blackfan anemia, Shwachman–Diamond syndrome, thrombocytopenia with absent radii, severe congenital neutropenia, Genetics, QH426-470

    وصف الملف: electronic resource

    العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1293929/fullTest; https://doaj.org/toc/1664-8021Test

    الوصول الحر: https://doaj.org/article/c847b296c71c481ba9d3a93f5e694b3aTest

    View record in DOAJ النص الكامل

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  8. 8
    دورية أكاديمية
    Ataluren improves myelopoiesis and neutrophil chemotaxis by restoring ribosome biogenesis and reducing p53 levels in Shwachman–Diamond syndrome cells

    المؤلفون: Cipolli M., Boni C., Penzo M., Villa I., Bolamperti S., Baldisseri E., Frattini A., Porta G., Api M., Selicato N., Roccia P., Pollutri D., MarinelliBusilacchi E., Poloni A., Caporelli N., D'Amico G., Pegoraro A., Cesaro S., Oyarbide U., Vella A., Lippi G., Corey S. J., Valli R., Polini A., Bezzerri V.

    المساهمون: Cipolli M., Boni C., Penzo M., Villa I., Bolamperti S., Baldisseri E., Frattini A., Porta G., Api M., Selicato N., Roccia P., Pollutri D., MarinelliBusilacchi E., Poloni A., Caporelli N., D'Amico G., Pegoraro A., Cesaro S., Oyarbide U., Vella A., Lippi G., Corey S.J., Valli R., Polini A., Bezzerri V.

    مصطلحات موضوعية: ataluren, inherited bone marrow failure syndrome, myelodysplastic syndrome, Shwachman–Diamond syndrome, translational readthrough-inducing drugs

    وصف الملف: ELETTRONICO

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37876306; info:eu-repo/semantics/altIdentifier/wos/WOS:001091130500001; volume:204; issue:1; firstpage:292; lastpage:305; numberofpages:14; journal:BRITISH JOURNAL OF HAEMATOLOGY; https://hdl.handle.net/11585/953927Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85174577008

    الإتاحة: https://doi.org/10.1111/bjh.19134Test
    https://hdl.handle.net/11585/953927Test

    View record in BASE

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  9. 9
    دورية أكاديمية
    Growth Charts for Shwachman–Diamond Syndrome at Ages 0 to 18 Years

    المؤلفون: Anna Pegoraro, Valentino Bezzerri, Gloria Tridello, Cecilia Brignole, Francesca Lucca, Emily Pintani, Cesare Danesino, Simone Cesaro, Francesca Fioredda, Marco Cipolli

    المصدر: Cancers, Vol 16, Iss 7, p 1420 (2024)

    مصطلحات موضوعية: Shwachman–Diamond syndrome, bone marrow failure, pancreatic insufficiency, ribosomopathy, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

    وصف الملف: electronic resource

    العلاقة: https://www.mdpi.com/2072-6694/16/7/1420Test; https://doaj.org/toc/2072-6694Test

    الوصول الحر: https://doaj.org/article/dab3faa8ef6a41b2b8f7f862f5e8886dTest

    View record in DOAJ النص الكامل

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  10. 10
    دورية أكاديمية
    Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome.

    المؤلفون: Kennedy, Alyssa L, Myers, Kasiani C, Bowman, James, Gibson, Christopher J, Camarda, Nicholas D, Furutani, Elissa, Muscato, Gwen M, Klein, Robert H, Ballotti, Kaitlyn, Liu, Shanshan, Harris, Chad E, Galvin, Ashley, Malsch, Maggie, Dale, David, Gansner, John M, Nakano, Taizo A, Bertuch, Alison, Vlachos, Adrianna, Lipton, Jeffrey M, Castillo, Paul, Connelly, James, Churpek, Jane, Edwards, John R, Hijiya, Nobuko, Ho, Richard H, Hofmann, Inga, Huang, James N, Keel, Siobán, Lamble, Adam, Lau, Bonnie W, Norkin, Maxim, Stieglitz, Elliot, Stock, Wendy, Walkovich, Kelly, Boettcher, Steffen, Brendel, Christian, Fleming, Mark D, Davies, Stella M, Weller, Edie A, Bahl, Christopher, Carter, Scott L, Shimamura, Akiko, Lindsley, R Coleman

    المصدر: Nature communications. 12(1)

    مصطلحات موضوعية: Ribosomes, Humans, Bone Marrow Diseases, Eukaryotic Initiation Factors, Mutation, Adolescent, Adult, Middle Aged, Child, Child, Preschool, Infant, Female, Male, Tumor Suppressor Protein p53, Young Adult, Shwachman-Diamond Syndrome, Clonal Hematopoiesis, Preschool

    وصف الملف: application/pdf

    الوصول الحر: https://escholarship.org/uc/item/3xk4m2k3Test

    View record in eScholarship

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