المؤلفون: Becker, Heiko, Pfeifer, Dietmar, Ihorst, Gabriele, Pantic, Milena, Wehrle, Julius, Rüter, Björn H., Bullinger, Lars, Hackanson, Björn, Germing, Ulrich, Kuendgen, Andrea, Platzbecker, Uwe, Döhner, Konstanze, Ganser, Arnold, Hagemeijer, Anne, Wijermans, Pierre W., Döhner, Hartmut, Duyster, Justus, Lübbert, Michael

المصدر: http://lobid.org/resources/99370678538206441#!, 99(7):1551-1560.

مصطلحات موضوعية: Smith-Magenis Syndrome/epidemiology [MeSH], Aged, 80 and over [MeSH], Aged [MeSH], Mutations, Karyotype [MeSH], Germany/epidemiology [MeSH], DNA Mutational Analysis [MeSH], TP53, Original Article, Acute myeloid leukemia, Decitabine, Monosomy, Male [MeSH], Leukemia, Myeloid, Acute/genetics [MeSH], Chromosome Deletion [MeSH], Smith-Magenis Syndrome/genetics [MeSH], Female [MeSH], Mutation [MeSH], Clonal Evolution/genetics [MeSH], Monosomy/genetics [MeSH], Humans [MeSH], Monosomy/diagnosis [MeSH], Clonal Evolution/drug effects [MeSH], Survival Analysis [MeSH], Middle Aged [MeSH], Tumor Suppressor Protein p53/genetics [MeSH], Decitabine/therapeutic use [MeSH]

Relation: https://repository.publisso.de/resource/frl:6466984; https://doi.org/10.1007/s00277-020-04082-7; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7316846/

الاتاحة: https://repository.publisso.de/resource/frl:6466984
https://doi.org/10.1007/s00277-020-04082-7
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7316846/

المؤلفون: Ricard, G., Molina, J., Chrast, J., Gu, W., Gheldof, N., Pradervand, S., Schütz, F., Young, J.I., Lupski, J.R., Reymond, A., Walz, K.

المصدر: PLoS Biology, vol. 8, no. 11, pp. e1000543

مصطلحات موضوعية: Animals, Disease Models, Animal, Gene Dosage, Gene Expression, Mice, Phenotype, RNA, Messenger/genetics, Recombination, Genetic, Smith-Magenis Syndrome/genetics

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/21124890; info:eu-repo/semantics/altIdentifier/pissn/1545-7885[electronic], 1544-9173[linking]; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_034A965C31334; https://serval.unil.ch/notice/serval:BIB_034A965C3133; https://serval.unil.ch/resource/serval:BIB_034A965C3133.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_034A965C3133
https://doi.org/10.1371/journal.pbio.1000543
https://serval.unil.ch/resource/serval:BIB_034A965C3133.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_034A965C31334

المساهمون: Gulhan Ercan-Sencicek, A (authoraut), Davis Wright, Nicole R (authoraut), Frost, Stephen J (authoraut), Fulbright, Robert K (authoraut), Felsenfeld, Susan (authoraut), Hart, Lesley (authoraut), Landi, Nicole (authoraut), Einar Mencl, W (authoraut), Sanders, Stephan J (authoraut), Pugh, Kenneth R (authoraut), State, Matthew W (authoraut), Grigorenko, Elena L (authoraut)

مصطلحات موضوعية: Abnormalities, Multiple, Autistic Disorder, Child, Chromosome Disorders, Chromosome Duplication, Chromosomes, Human, Pair 17, Humans, Language Disorders/etiology, Male, Phenotype, Smith-Magenis Syndrome/complications, Smith-Magenis Syndrome/genetics, Smith-Magenis Syndrome/physiopathology

وصف الملف: 1 online resource; computer

Relation: Brain & development--1872-7131--1872-7131; fsu:330499; (IID) FSU_pmch_22178197; (DOI) 10.1016/j.braindev.2011.11.003; (PMCID) PMC3343226; (RID) 22178197; (EID) 22178197; (PII) S0387-7604(11)00309-3; https://diginole.lib.fsu.edu/islandora/object/fsu%3A330499/datastream/TN/view/Searching%20for%20Potocki-Lupski%20syndrome%20phenotype.jpg

الاتاحة: https://diginole.lib.fsu.edu/islandora/object/fsu%3A330499/datastream/TN/view/Searching%20for%20Potocki-Lupski%20syndrome%20phenotype.jpg

المؤلفون: Jacqueline Chrast, Jessica Molina, James R. Lupski, Frédéric Schütz, Juan I. Young, Katherina Walz, Nele Gheldof, Wenli Gu, Sylvain Pradervand, Guénola Ricard, Alexandre Reymond

المصدر: PLOS BIOLOGY
Artículos CONICYT
CONICYT Chile
instacron:CONICYT
PLoS Biology
PLoS Biology, Vol 8, Iss 11, p e1000543 (2010)
PLoS Biology, vol. 8, no. 11, pp. e1000543
PLoS biology

مصطلحات موضوعية: Genome evolution, Genetics and Genomics/Animal Genetics, QH301-705.5, Gene Dosage, Gene Expression, Locus (genetics), Chromosome Disorders, Biology, Gene dosage, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Mice, 0302 clinical medicine, Gene mapping, Gene duplication, Chromosome Duplication, Animals, Abnormalities, Multiple, Copy-number variation, RNA, Messenger, Biology (General), Genetics and Genomics/Genomics, skin and connective tissue diseases, Gene, Genetics and Genomics/Genetics of Disease, 030304 developmental biology, Genetics, Recombination, Genetic, Genetics and Genomics/Medical Genetics, 0303 health sciences, General Immunology and Microbiology, General Neuroscience, Genetics and Genomics/Functional Genomics, Genetics and Genomics/Gene Expression, Genetics and Genomics/Chromosome Biology, Disease Models, Animal, Phenotype, Genetics and Genomics/Disease Models, Human genome, sense organs, Smith-Magenis Syndrome, General Agricultural and Biological Sciences, 030217 neurology & neurosurgery, RNA, Messenger/genetics, Smith-Magenis Syndrome/genetics, Research Article

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61fdbb9193398612437e2da4fb0e1d82

المساهمون: Gulhan Ercan-Sencicek, A (authoraut), Davis Wright, Nicole R (authoraut), Frost, Stephen J (authoraut), Fulbright, Robert K (authoraut), Felsenfeld, Susan (authoraut), Hart, Lesley (authoraut), Landi, Nicole (authoraut), Einar Mencl, W (authoraut), Sanders, Stephan J (authoraut), Pugh, Kenneth R (authoraut), State, Matthew W (authoraut), Grigorenko, Elena L (authoraut)

مصطلحات موضوعية: Abnormalities, Multiple, Autistic Disorder, Child, Chromosome Disorders, Chromosome Duplication, Chromosomes, Human, Pair 17, Humans, Language Disorders/etiology, Male, Phenotype, Smith-Magenis Syndrome/complications, Smith-Magenis Syndrome/genetics, Smith-Magenis Syndrome/physiopathology

وصف الملف: 1 online resource; computer; application/pdf

Relation: Brain & development--1872-7131--1872-7131

الاتاحة: https://doi.org/10.1016/j.braindev.2011.11.003
http://purl.flvc.org/fsu/fd/FSU_pmch_22178197
http://fsu.digital.flvc.org/islandora/object/fsu%3A330499/datastream/TN/view/Searching%20for%20Potocki-Lupski%20syndrome%20phenotype.jpg