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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: Adam Jendrisak, Ramsay Sutton, Joseph D. Schonhoft, Ryan Dittamore, Nicole A. Schreiber, Jerry Lee, Melanie Hullings, Mark Landers, Yipeng Wang, Ryon P. Graf, Howard I. Scher, Angel E. Dago
المصدر: Journal of Clinical Oncology. 36:5053-5053
مصطلحات موضوعية: Oncology, Cancer Research, medicine.medical_specialty, business.industry, Castration resistant, medicine.disease, Phenotype, Prostate cancer, Drug class, Circulating tumor cell, Internal medicine, Genotype, medicine, business, Selection (genetic algorithm), Blood drawing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8a274fd231597170b3469c3155a1e4daTest
https://doi.org/10.1200/jco.2018.36.15_suppl.5053Test -
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المؤلفون: Andreas Dalski, Abhinav Rampuria, María Concepción Gil-Rodríguez, Gabriele Gillessen-Kaesbach, Frank J. Kaiser, Jolanta Wierzba, Melanie Hullings, Antonie D. Kline, Mark B. Mallozzi, Dinah Clark, Melanie Albrecht, Andreas Tzschach, Ian D. Krantz, Christopher T. Fincher, Elizabeth Loy, Matthew A. Deardorff, Juliane Eckhold, Janusz Limon, Raoul C.M. Hennekam, Maninder Kaur, Diana Braunholz
المساهمون: Amsterdam Neuroscience, Amsterdam Public Health, Paediatrics
المصدر: European journal og human genetics : EJHG ; the official journal of the European Society of Human Genetics
European journal of human genetics, 20(3), 271-276. Nature Publishing Groupمصطلحات موضوعية: Cornelia de Lange Syndrome, Mutation, Missense, Cell Cycle Proteins, Plasma protein binding, Biology, Article, De Lange Syndrome, Genetics, medicine, Missense mutation, Humans, Protein Interaction Domains and Motifs, Genetics (clinical), Cohesin, Facies, Proteins, NIPBL, medicine.disease, Phenotype, Chromatin, Establishment of sister chromatid cohesion, DNA-Binding Proteins, Intercellular Signaling Peptides and Proteins, Corrigendum, Protein Binding
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10fffeba3c1b8a26c4d33bb6014cfc30Test
https://europepmc.org/articles/PMC3283190Test/ -
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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/