المؤلفون: Ali MM; California Maternal Fetal Medicine, Folsom, California, USA., Gilliam AE; Department of Dermatology, University of California San Francisco, San Francisco, California, USA.; Dermatology and Dermatopathology, Palo Alto Medical Foundation Medical Group, Palo Alto, California, USA., Ruben BS; Department of Dermatology, University of California San Francisco, San Francisco, California, USA.; Dermatology and Dermatopathology, Palo Alto Medical Foundation Medical Group, Palo Alto, California, USA., Tidyman WE; Department of Pediatrics, University of California Davis, Sacramento, California, USA.; MIND Institute, University of California Davis, Sacramento, California, USA., Rauen KA; Department of Pediatrics, University of California Davis, Sacramento, California, USA.; MIND Institute, University of California Davis, Sacramento, California, USA.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Oct; Vol. 185 (10), pp. 3048-3052. Date of Electronic Publication: 2021 May 25.

نوع المنشور: Case Reports; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Predisposition to Disease*, Leukemia, Myelomonocytic, Juvenile/*genetics , Noonan Syndrome/*genetics , Protein Tyrosine Phosphatase, Non-Receptor Type 11/*genetics , Xanthogranuloma, Juvenile/*genetics, Female ; Humans ; Infant ; Leukemia, Myelomonocytic, Juvenile/complications ; Leukemia, Myelomonocytic, Juvenile/pathology ; Mutation, Missense/genetics ; Neurofibromin 1/genetics ; Noonan Syndrome/complications ; Noonan Syndrome/pathology ; Phenotype ; Xanthogranuloma, Juvenile/complications ; Xanthogranuloma, Juvenile/pathology ; ras Proteins/genetics

المؤلفون: Pearson S; Stem Cell and Leukaemia Proteomics Laboratory, Manchester Academic Health Science Centre , The University of Manchester, Wolfson Molecular Imaging Centre , 27 Palatine Road , Withington, Manchester M20 3LJ , U.K., Guo B; Stem Cell and Leukaemia Proteomics Laboratory, Manchester Academic Health Science Centre , The University of Manchester, Wolfson Molecular Imaging Centre , 27 Palatine Road , Withington, Manchester M20 3LJ , U.K., Pierce A; Stem Cell and Leukaemia Proteomics Laboratory, Manchester Academic Health Science Centre , The University of Manchester, Wolfson Molecular Imaging Centre , 27 Palatine Road , Withington, Manchester M20 3LJ , U.K., Azadbakht N; Stem Cell and Leukaemia Proteomics Laboratory, Manchester Academic Health Science Centre , The University of Manchester, Wolfson Molecular Imaging Centre , 27 Palatine Road , Withington, Manchester M20 3LJ , U.K., Brazzatti JA; Stoller Biomarker Discovery Centre, Manchester Academic Health Science Centre , University of Manchester , Manchester M13 9NQ , U.K., Patassini S; Stem Cell and Leukaemia Proteomics Laboratory, Manchester Academic Health Science Centre , The University of Manchester, Wolfson Molecular Imaging Centre , 27 Palatine Road , Withington, Manchester M20 3LJ , U.K., Mulero-Navarro S; Department of Biochemistry , Universidad de Extremadura , Badajoz 06006 , Spain., Meyer S; Stem Cell and Leukaemia Proteomics Laboratory, Manchester Academic Health Science Centre , The University of Manchester, Wolfson Molecular Imaging Centre , 27 Palatine Road , Withington, Manchester M20 3LJ , U.K., Flotho C; Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine , University of Freiburg , 79106 Freiburg , Germany., Gelb BD; The Mindich Child Health and Development Institute , Icahn School of Medicine at Mount Sinai , New York , New York 10029 , United States., Whetton AD; Stem Cell and Leukaemia Proteomics Laboratory, Manchester Academic Health Science Centre , The University of Manchester, Wolfson Molecular Imaging Centre , 27 Palatine Road , Withington, Manchester M20 3LJ , U.K.; Stoller Biomarker Discovery Centre, Manchester Academic Health Science Centre , University of Manchester , Manchester M13 9NQ , U.K.

المصدر: Journal of proteome research [J Proteome Res] 2020 Jan 03; Vol. 19 (1), pp. 194-203. Date of Electronic Publication: 2019 Nov 12.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Chemical Society Country of Publication: United States NLM ID: 101128775 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1535-3907 (Electronic) Linking ISSN: 15353893 NLM ISO Abbreviation: J Proteome Res Subsets: MEDLINE

مواضيع طبية MeSH: Induced Pluripotent Stem Cells* , Leukemia, Myelomonocytic, Juvenile*/drug therapy , Leukemia, Myelomonocytic, Juvenile*/genetics , Noonan Syndrome*, Child ; Child, Preschool ; Humans ; Mutation ; Proteomics

المؤلفون: Chan, Gordon^Aff3, Neel, Benjamin G.^Aff4

المساهمون: Neel, Benjamin G., editor^Aff1, Tonks, Nicholas K., editor^Aff2

المصدر: Protein Tyrosine Phosphatases in Cancer. :115-143

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المؤلفون: Hyakuna N; Center of Bone Marrow Transplantation, Hospital of University of the Ryukyus, Nishihara, Japan., Muramatsu H, Higa T, Chinen Y, Wang X, Kojima S

المصدر: Pediatric blood & cancer [Pediatr Blood Cancer] 2015 Mar; Vol. 62 (3), pp. 542-4. Date of Electronic Publication: 2014 Oct 04.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: John Wiley Country of Publication: United States NLM ID: 101186624 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1545-5017 (Electronic) Linking ISSN: 15455009 NLM ISO Abbreviation: Pediatr Blood Cancer Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Leukemia, Myelomonocytic, Juvenile/*genetics , Moyamoya Disease/*genetics , Noonan Syndrome/*genetics , Proto-Oncogene Proteins c-cbl/*genetics, Child ; Female ; Humans ; Leukemia, Myelomonocytic, Juvenile/metabolism ; Moyamoya Disease/complications ; Moyamoya Disease/metabolism ; Noonan Syndrome/complications ; Noonan Syndrome/metabolism ; Oncogene Protein p21(ras)/genetics ; Oncogene Protein p21(ras)/metabolism ; Proto-Oncogene Proteins c-cbl/metabolism ; Signal Transduction/genetics

المؤلفون: Tidyman, William E.^Aff00321, Rauen, Katherine A.^{Aff00322, Aff00323}

المساهمون: Upadhyaya, Meena, editor^AffID1, Cooper, David N., editor^AffID2

المصدر: Neurofibromatosis Type 1 : Molecular and Cellular Biology. :497-511

المؤلفون: Jeroen den Hertog, Sarah M. Kamel, Florian Piques, Jeroen Bakkers, Qiqi Yang, Maja Solman, Marion Strullu, Pakize Ak, Chuan Yan, David M. Langenau, Sasja Blokzijl-Franke, Hélène Cavé

المساهمون: Hubrecht Institute for Developmental Biology and Stem Cell Research

المصدر: eLife, 11. eLife Sciences Publications

مصطلحات موضوعية: Myeloid, Protein Tyrosine Phosphatase, Non-Receptor Type 11, General Biochemistry, Genetics and Molecular Biology, Noonan Syndrome/genetics, medicine, Animals, Hematopoietic Stem Cells/metabolism, Humans, Progenitor cell, Zebrafish, Juvenile/genetics, Myeloproliferative neoplasm, Protein Tyrosine Phosphatase, Non-Receptor Type 11/genetics, Leukemia, General Immunology and Microbiology, biology, Juvenile myelomonocytic leukemia, General Neuroscience, Noonan Syndrome, Leukemia, Myelomonocytic, Juvenile/genetics, General Medicine, Myelomonocytic, Hematopoietic Stem Cells, biology.organism_classification, medicine.disease, Phenotype, Haematopoiesis, Non-Receptor Type 11/genetics, medicine.anatomical_structure, MRNA Sequencing, Leukemia, Myelomonocytic, Juvenile, Mutation, Cancer research, Protein Tyrosine Phosphatase

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c74cae83216ed6522ed95d6807b022f
https://doi.org/10.7554/elife.73040

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المؤلفون: Garcia-Minaur, S., Burkitt-Wright, E., Verloes, A., Shaikh, G., Lebl, J., Östman-Smith, Ingegerd, 1947, Wolf, C. M., Castello, E. O., Tartaglia, M., Zenker, M., Edouard, T.

المصدر: European Journal of Medical Genetics. 65(1)

مصطلحات موضوعية: Clinical Medicine, Klinisk medicin, Noonan syndrome, Europe, RASopathy, Clinical practice survey, RAS, MAPK, signalling Pathway, Clinical management, juvenile myelomonocytic leukemia, mutations cause, phenotype, features, ptpn11, genotype, fetuses, adults, genes, Genetics & Heredity

URL الوصول: https://gup.ub.gu.se/publication/314846