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المؤلفون: Melanie Hullings, Ryon P. Graf, Howard I. Scher, Ryan Dittamore, Emily Carbone, Ethan Barnett
المصدر: Eur Urol
مصطلحات موضوعية: Male, Oncology, medicine.medical_specialty, Urology, medicine.medical_treatment, Clinical Decision-Making, 030232 urology & nephrology, Lower risk, Article, 03 medical and health sciences, Prostate cancer, 0302 clinical medicine, Circulating tumor cell, Internal medicine, Phenylthiohydantoin, medicine, Humans, Liquid biopsy, Chemotherapy, Taxane, business.industry, Neoplastic Cells, Circulating, medicine.disease, Prostatic Neoplasms, Castration-Resistant, Receptors, Androgen, 030220 oncology & carcinogenesis, Cohort, Biomarker (medicine), business, Biomarkers
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d38c7b42df0eb29e3fb1207006f9376fTest
https://doi.org/10.1016/j.eururo.2019.08.020Test -
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المؤلفون: Joseph D. Schonhoft, Angel E. Dago, Ryan Dittamore, Jimmy L. Zhao, Melanie Hullings, Mithat Gonen, Jerry Lee, Ethan Barnett, Adam Jendrisak, Yipeng Wang, Audrey Gill, Emily Carbone, Samuel F. Bakhoum, Mark Landers, Howard I. Scher, Ramsay Sutton
المصدر: Cancer Res
مصطلحات موضوعية: 0301 basic medicine, Genetic Markers, Male, Cancer Research, DNA Copy Number Variations, Cell, Sensitivity and Specificity, Article, 03 medical and health sciences, Prostate cancer, 0302 clinical medicine, Circulating tumor cell, Chromosome instability, Chromosomal Instability, Biopsy, medicine, Humans, Aged, Aged, 80 and over, medicine.diagnostic_test, business.industry, Reproducibility of Results, Chromosome Breakage, Middle Aged, medicine.disease, Neoplastic Cells, Circulating, Prognosis, High-Throughput Screening Assays, Androgen receptor, Prostatic Neoplasms, Castration-Resistant, 030104 developmental biology, medicine.anatomical_structure, Oncology, 030220 oncology & carcinogenesis, Genomic Structural Variation, Cancer research, Disease Progression, Biomarker (medicine), Chromosome breakage, business, Algorithms
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::752bdfef1da6f8dcab84a6c08482f6dfTest
https://pubmed.ncbi.nlm.nih.gov/32816908Test -
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المؤلفون: Philip W. Kantoff, Wassim Abida, Ethan Barnett, Konrad H. Stopsack, Chloe J. Kim, Melanie Hullings, David B. Solit, Emily Weg, Samuel Haywood, Samantha E. Vasselman, Howard I. Scher, Subhiksha Nandakumar, Bastien Nguyen, Emily Carbone, Nikolaus Schultz, Michael J. Morris, Andreas Wibmer
المصدر: Clin Cancer Res
مصطلحات موضوعية: 0301 basic medicine, Oncology, Male, Cancer Research, medicine.medical_specialty, Disease, Kaplan-Meier Estimate, SPOP, Article, 03 medical and health sciences, Prostate cancer, 0302 clinical medicine, Castration Resistance, Internal medicine, medicine, Biomarkers, Tumor, Humans, Orchiectomy, Aged, Neoplasm Staging, business.industry, Hazard ratio, Wnt signaling pathway, Genetic Variation, Prostatic Neoplasms, Genomics, Oncogenes, Cell cycle, Middle Aged, medicine.disease, Prognosis, 030104 developmental biology, Phenotype, Treatment Outcome, Drug Resistance, Neoplasm, 030220 oncology & carcinogenesis, Neoplasm Grading, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac311e6ba3427642a54d6c52cc588aacTest
https://pubmed.ncbi.nlm.nih.gov/32220891Test -
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المؤلفون: María Concepción Gil-Rodríguez, Angela E. Scheuerle, Kathleen A. Leppig, Hane Lee, Miguel Del Campo, Peter Diakumis, Katsuhiko Shirahige, Encarna Guillén-Navarro, Juliane Eckhold, Sally Ann Lynch, Holly Dubbs, A. Micheil Innes, Joe Ann S. Moser, Sulagna C. Saitta, Naohito Nozaki, Fabiola Quintero-Rivera, Helger G. Yntema, Antonie D. Kline, Antonio Perez-Aytes, Dinah Clark, Patrick Willems, Lynette S. Penney, Bryan D. Hall, David A. Dyment, Samuel P. Strom, Matthew A. Deardorff, Maninder Kaur, Kathleen A. Williamson, Diana Braunholz, Ieva Micule, Jennifer M. Hunter, Jose Ferreira, Laird G. Jackson, Sarah Ernst, Paldeep S. Atwal, Raoul C.M. Hennekam, Shane McKee, Sarju G. Mehta, David R. FitzPatrick, Sarah E. Noon, David J. Amor, Yolanda Gyftodimou, David W. Christianson, Louanne Hudgins, Christopher T. Fincher, Melanie Hullings, Inga Vater, Victoria Mok Siu, Feliciano J. Ramos, Michael B. Petersen, Christophe Decroos, Antonio Musio, Morad Ansari, Elizabeth Roeder, Nicole Revencu, Heidi Thiese, Shehla Mohammed, Beatriz Puisac, Louise C. Wilson, John Pappas, Lauren J. Francey, Zita Krumina, Zornitza Stark, Karen L. Schindeler, Juan Pié, Ellen Moran, Jolanta Wierzba, Nataliya Di Donato, Hakon Hakonarson, Frank J. Kaiser, Gabriele Gillessen-Kaesbach, Geert Mortier, Han G. Brunner, Linda Mannini, Melanie Bahlo, Jonathan J. Wilde, Masashige Bando, Jacquelyn J. Bradley, Mark B. Mallozzi, Ulrike Gehlken, Christine M. Bowman, Luis Nunes, Ian D. Krantz
المساهمون: Amsterdam Neuroscience, Amsterdam Public Health, Human Genetics, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Centre de malformations vasculaires congénitales, CareRare Canada Consortium, University of Washington Center for Mendelian Genomics
المصدر: Kaiser, F J, Ansari, M, Braunholz, D, Concepción Gil-Rodríguez, M, Decroos, C, Wilde, J J, Fincher, C T, Kaur, M, Bando, M, Amor, D J, Atwal, P S, Bahlo, M, Bowman, C M, Bradley, J J, Brunner, H G, Clark, D, Del Campo, M, Di Donato, N, Diakumis, P, Dubbs, H, Dyment, D A, Eckhold, J, Ernst, S, Ferreira, J C, Francey, L J, Gehlken, U, Guillén-Navarro, E, Gyftodimou, Y, Hall, B D, Hennekam, R, Hudgins, L, Hullings, M, Hunter, J M, Yntema, H, Innes, A M, Kline, A D, Krumina, Z, Lee, H, Leppig, K, Lynch, S A, Mallozzi, M B, Mannini, L, McKee, S, Mehta, S G, Micule, I, Mohammed, S, Moran, E, Mortier, G R, Moser, J-A S, Petersen, M B & Care4Rare Canada Consortium 2014, ' Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance ', Human Molecular Genetics, vol. 23, no. 11, pp. 2888-2900 . https://doi.org/10.1093/hmg/ddu002Test
Human molecular genetics, 23(11), 2888-2900. Oxford University Press
Human molecular genetics, vol 23, iss 11
Human Molecular Genetics, 23, 11, pp. 2888-900
Human Molecular Genetics, 23, 2888-900
HUMAN MOLECULAR GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Human Molecular Genetics, Vol. 23, no. 11, p. 2888-2900 (2014)
Human molecular geneticsمصطلحات موضوعية: Male, Care4Rare Canada Consortium, medicine.disease_cause, Bioinformatics, Medical and Health Sciences, Cohort Studies, Congenital, Genes, X-Linked, De Lange Syndrome, 2.1 Biological and endogenous factors, Missense mutation, Eye Abnormalities, Aetiology, Hypertelorism, Child, Genetics (clinical), X-linked recessive inheritance, Pediatric, Genetics & Heredity, Genetics, screening and diagnosis, Mutation, Genetic disorder, Articles, General Medicine, Biological Sciences, Chemistry, Detection, Phenotype, Child, Preschool, Female, medicine.symptom, Cornelia de Lange Syndrome, Cohesin complex, Intellectual and Developmental Disabilities (IDD), Molecular Sequence Data, Cranial Fontanelles, Mutation, Missense, Biology, Histone Deacetylases, Rare Diseases, medicine, Humans, Amino Acid Sequence, Dental/Oral and Craniofacial Disease, Sensory disorders Radboud Institute for Molecular Life Sciences [Radboudumc 12], University of Washington Center for Mendelian Genomics, Preschool, Molecular Biology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Infant, NIPBL, X-Linked, medicine.disease, Brain Disorders, 4.1 Discovery and preclinical testing of markers and technologies, Repressor Proteins, Genes, Human medicine, Missense, Sequence Alignment
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d5b1ff2bb16729d8da56fa773419cfeTest
https://doi.org/10.1093/hmg/ddu002Test -
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المؤلفون: Susan F. Slovin, Michael J. Morris, Michael L. Cheng, Charles L. Sawyers, Ethan Barnett, Daniel C. Danila, Hebert Alberto Vargas, Jinru Shia, Melanie Hullings, Nikolaus Schultz, Anuradha Gopalan, Vincent P. Laudone, David B. Solit, Jedd D. Wolchok, Karen A. Autio, Philip Jonsson, Michael F. Berger, Wassim Abida, Ahmet Zehir, Howard I. Scher, Barry S. Taylor, Sumit Middha, Preethi Srinivasan, Nicholas D. Socci, Emily Carbone, Joshua Armenia, Zsofia K. Stadler, Victor E. Reuter, Dana E. Rathkopf, Jaclyn F. Hechtman, Philip W. Kantoff
المصدر: JAMA Oncology. 5:471
مصطلحات موضوعية: Adult, Male, Oncology, Cancer Research, medicine.medical_specialty, Programmed Cell Death 1 Receptor, Population, Pembrolizumab, Disease, DNA Mismatch Repair, B7-H1 Antigen, 03 medical and health sciences, Prostate cancer, Antineoplastic Agents, Immunological, 0302 clinical medicine, Germline mutation, Internal medicine, Prevalence, Humans, Medicine, 030212 general & internal medicine, education, Aged, Original Investigation, Aged, 80 and over, education.field_of_study, biology, business.industry, Prostatic Neoplasms, Microsatellite instability, Middle Aged, medicine.disease, Immune checkpoint, Phenotype, Treatment Outcome, 030220 oncology & carcinogenesis, Mutation, biology.protein, Microsatellite Instability, Antibody, business, Biomarkers
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0631220677b3caf11686fdbbb7bb4df1Test
https://doi.org/10.1001/jamaoncol.2018.5801Test -
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المؤلفون: Davut Pehlivan, Elizabeth Loy, Matthew A. Deardorff, James R. Lupski, Claudia M.B. Carvalho, Claudia Gonzaga-Jauregui, Melanie Hullings, Laird G. Jackson, Ian D. Krantz
مصطلحات موضوعية: DNA Replication, Male, Cornelia de Lange Syndrome, Adolescent, Molecular Sequence Data, Cell Cycle Proteins, Biology, Article, Genotype phenotype, Chromosome Breakpoints, De Lange Syndrome, Gene Order, medicine, Humans, Base sequence, Child, Genetics (clinical), Genetic Association Studies, Genetics, Recombination, Genetic, Comparative Genomic Hybridization, Base Sequence, Mechanism (biology), Facies, Infant, Proteins, NIPBL, Gene deletion, medicine.disease, Phenotype, Child, Preschool, Female, Sequence Alignment, Gene Deletion, Comparative genomic hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c378cd7e578cabde08bca05bc9d0bbcfTest
https://europepmc.org/articles/PMC3556738Test/ -
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المؤلفون: Michael B. Petersen, Geert Mortier, Ian D. Krantz, Patrick M. Lombardi, Frank J. Kaiser, Claude Prigent, Elfride De Baere, Kathryn E. Cole, Tohru Kiyono, Sarah Ernst, Dinah Clark, Katsuhiko Shirahige, Laura Magnaghi-Jaulin, Nataliya Di Donato, Melanie Hullings, Erwan Watrin, Yutaka Suzuki, Naohito Nozaki, Jonathan J. Wilde, Lauren J. Francey, Patrick Willems, David W. Christianson, Takehiko Itoh, Ryuichiro Nakato, Yuki Katou, Christian Jaulin, Laird G. Jackson, Makiko Komata, Gabriele Gillessen-Kaesbach, Matthew A. Deardorff, Maninder Kaur, Masashi Minamino, Hiroyuki Seimiya, Yolanda Gyftodimou, Christophe Decroos, Victoria Mok Siu, Yuuichi Ishikawa, Kyotaro Hirashima, Katsuya Saitoh, Masashige Bando, Kentaro Takagaki, Toru Hirota
المساهمون: Division of Human Genetics and Molecular Biology, Children’s Hospital of Philadelphia (CHOP ), Department of Pediatrics, University of Pennsylvania-Perelman School of Medicine, University of Pennsylvania, Research Center for Epigenetic Disease, The University of Tokyo (UTokyo), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), School of Bioscience and Biotechnology, Tokyo Institute of Technology [Tokyo] (TITECH), Department of Chemistry, Center for Medical Genetics [Ghent], Ghent University Hospital, Institut für Klinische Genetik, Technische Universität Dresden = Dresden University of Technology (TU Dresden), Department of Genetics, Institute of Child Health, Division of Molecular Biotherapy, Japanese Foundation for Cancer Research, Department of Pathology, Division of Virology, National Cancer Center Research Institute, Department of Medical Genetics, Antwerp University Hospital [Edegem] (UZA), Bio-Frontier Research Center, Department of Clinical Genetics, Aarhus University Hospital, University of Western Ontario (UWO), Graduate School of Frontier Sciences, Department of Experimental Pathology, GENetic DIAgnostic Network (GENDIA), GENDIA Central Lab, Leicester Royal Infirmary, University Hospitals Leicester-University Hospitals Leicester, Institut für Humangenetik Lübeck, Universität zu Lübeck = University of Lübeck [Lübeck], Department of Obstetrics and Gynecology, Drexel University College of Medicine, Core Research for Evolutional Science and Technology (CREST), Japan Science and Technology Agency (JST), De Villemeur, Hervé, University of Pennsylvania [Philadelphia]-Perelman School of Medicine, University of Pennsylvania [Philadelphia], Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Universität zu Lübeck [Lübeck]
المصدر: Deardorff, M A, Bando, M, Nakato, R, Watrin, E, Itoh, T, Minamino, M, Saitoh, K, Komata, M, Katou, Y, Clark, D, Cole, K E, De Baere, E, Decroos, C, Di Donato, N, Ernst, S, Francey, L J, Gyftodimou, Y, Hirashima, K, Hullings, M, Ishikawa, Y, Jaulin, C, Kaur, M, Kiyono, T, Lombardi, P M, Magnaghi-Jaulin, L, Mortier, G R, Nozaki, N, Petersen, M B, Seimiya, H, Siu, V M, Suzuki, Y, Takagaki, K, Wilde, J J, Willems, P J, Prigent, C, Gillessen-Kaesbach, G, Christianson, D W, Kaiser, F J, Jackson, L G, Hirota, T, Krantz, I D & Shirahige, K 2012, ' HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle ', English Nature, vol. 489, no. 7415, pp. 313-7 . https://doi.org/10.1038/nature11316Test
Nature
Nature, 2012, 489 (7415), pp.313-7. ⟨10.1038/nature11316⟩
Nature, Nature Publishing Group, 2012, 489 (7415), pp.313-7. ⟨10.1038/nature11316⟩مصطلحات موضوعية: Male, Models, Molecular, Transcription, Genetic, Chromosomal Proteins, Non-Histone, Protein Conformation, Cell Cycle Proteins, [SDV.GEN] Life Sciences [q-bio]/Genetics, Crystallography, X-Ray, Prophase, MESH: Mutant Proteins, 0302 clinical medicine, MESH: Protein Conformation, De Lange Syndrome, MESH: Proteins, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Anaphase, Genetics, MESH: Chromatin Immunoprecipitation, 0303 health sciences, Multidisciplinary, MESH: Chondroitin Sulfate Proteoglycans, Nuclear Proteins, Acetylation, Chromatin, Establishment of sister chromatid cohesion, DNA-Binding Proteins, MESH: Prophase, MESH: Repressor Proteins, Female, biological phenomena, cell phenomena, and immunity, Engineering sciences. Technology, MESH: Acetylation, MESH: De Lange Syndrome, MESH: Models, Molecular, Chromatin Immunoprecipitation, Cornelia de Lange Syndrome, MESH: Mutation, Cohesin complex, Biology, MESH: Anaphase, MESH: Phosphoproteins, Article, Histone Deacetylases, MESH: Chromatin, 03 medical and health sciences, MESH: Cell Cycle Proteins, MESH: Chromosomal Proteins, Non-Histone, [SDV.BDD] Life Sciences [q-bio]/Development Biology, medicine, Humans, 030304 developmental biology, MESH: Adaptor Proteins, Signal Transducing, Adaptor Proteins, Signal Transducing, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, Binding Sites, Cohesin, MESH: Transcription, Genetic, Proteins, NIPBL, Fibroblasts, medicine.disease, MESH: Crystallography, X-Ray, Phosphoproteins, MESH: Male, MESH: Histone Deacetylases, Repressor Proteins, MESH: Binding Sites, Chondroitin Sulfate Proteoglycans, MESH: Fibroblasts, MESH: HeLa Cells, Mutation, Mutant Proteins, MESH: Female, MESH: Nuclear Proteins, 030217 neurology & neurosurgery, HeLa Cells
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c946a259948fc2cc3a2a351405b3f06Test
https://pure.au.dk/portal/da/publications/hdac8-mutations-in-cornelia-de-lange-syndrome-affect-the-cohesin-acetylation-cycleTest(056fd46a-efdc-457d-b308-a51a56fd56b2).html