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المؤلفون: Barbara A. Koenig, Tiffany Yip, Jessica Van Ziffle, Mary E. Norton, Sarah Downum, Billie R. Lianoglou, Flavia Chen, Shannon Rego, Anne Slavotinek, Kate Swanson, Sachi Patel, Teresa N. Sparks
المصدر: Prenatal diagnosis, vol 42, iss 6
Prenat Diagnمصطلحات موضوعية: 0301 basic medicine, Proband, Parents, Pediatrics, medicine.medical_specialty, Clinical Sciences, Prenatal diagnosis, 030105 genetics & heredity, Article, Cohort Studies, Paediatrics and Reproductive Medicine, 03 medical and health sciences, 0302 clinical medicine, Primary outcome, Pregnancy, Clinical Research, Secondary analysis, Prenatal Diagnosis, Exome Sequencing, medicine, Humans, Family, Exome, Child, Obstetrics & Reproductive Medicine, Genetics (clinical), Exome sequencing, Genetic testing, Pediatric, 030219 obstetrics & reproductive medicine, medicine.diagnostic_test, business.industry, Obstetrics and Gynecology, Perinatal Period - Conditions Originating in Perinatal Period, Preference, Cohort, Female, business
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https://escholarship.org/uc/item/89h179r4Test -
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المؤلفون: Stephanie Hilz, Joseph F. Costello, Rong Li, Joanna J. Phillips, James P. Grenert, Tarik Tihan, Arie Perry, Megan K. Dishop, Elizabeth Alva, Carol S. Bruggers, Biswarathan Ramani, Peter P. Sun, Nalin Gupta, Julieann C. Lee, Shipra Garg, Cynthia Wetmore, Cathryn R. Cadwell, Gregory Moes, Corey Raffel, Patrick Devine, Mitchel S. Berger, Nancy Ann Oberheim Bush, Edward F. Chang, Courtney Onodera, Emily A. Sloan, Steve Braunstein, Jeffrey W. Hofmann, Cassie Kline, Anu Banerjee, David A. Solomon, Jessica Van Ziffle, Mouied Alashari, Melike Pekmezci, Rohit Gupta, John Y.H. Kim, Alyssa Reddy, Andrew W. Bollen, Susan M. Chang
المصدر: Acta neuropathologica, vol 139, iss 5
Acta Neuropatholمصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Clinical Sciences, Article, Pathology and Forensic Medicine, Li-Fraumeni Syndrome, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, medicine, Humans, Genetic Predisposition to Disease, Theology, Child, Preschool, Germ-Line Mutation, Neurology & Neurosurgery, Philosophy, Neurosciences, Glioma, medicine.disease, 030104 developmental biology, Li–Fraumeni syndrome, Child, Preschool, Female, Neurology (clinical), Tumor Suppressor Protein p53, 030217 neurology & neurosurgery
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https://doi.org/10.1007/s00401-020-02144-8Test -
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المؤلفون: Patrick Devine, Yi Li, John Y.H. Kim, Lee A. Tan, David Samuel, Susan M. Chang, Sabine Mueller, David Scharnhorst, Cassie Kline, Joseph Torkildson, Peter P. Sun, Cynthia Fata, Arie Perry, Steve Braunstein, Gregory Moes, Corey Raffel, Jennifer Clarke, Anu Banerjee, Carl Koschmann, Courtney Onodera, Emily A. Sloan, Jessica Van Ziffle, David R. Raleigh, Julieann C. Lee, Tabitha Cooney, Jennie Taylor, Andrew W. Bollen, Hua Guo, Soonmee Cha, Robin A. Buerki, Vinil Shah, Philip V. Theodosopoulos, David A. Solomon, Alyssa Reddy, Michael W. McDermott, Nicholas Butowski, Dean Chou, James P. Grenert, Praveen V. Mummaneni, Joanna J. Phillips, Nancy Ann Oberheim Bush, Tarik Tihan, Nalin Gupta, Melike Pekmezci, Mitchel S. Berger
المصدر: Acta neuropathologica, vol 138, iss 5
Acta Neuropatholمصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Clinical Sciences, Article, Pathology and Forensic Medicine, Histones, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Humans, Spinal Cord Neoplasms, Theology, Child, Preschool, Aged, Neurology & Neurosurgery, Brain Neoplasms, Extramural, Philosophy, Neurosciences, Glioma, Middle Aged, 030104 developmental biology, Spinal Cord, Non canonical, Child, Preschool, Mutation, Female, Neurology (clinical), 030217 neurology & neurosurgery
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الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f450fd991d4c733880328ada22b3c5fcTest
https://doi.org/10.1007/s00401-019-02072-2Test -
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المؤلفون: Boris C. Bastian, David A. Solomon, Jessica Van Ziffle, Arie Perry, James P. Grenert, Courtney Onodera, Anuradha Banerjee, Julieann C. Lee, Samuel H. Chesier, Angelica R. Putnam, Corey Raffel
المصدر: Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-4 (2018)
Lee, Julieann; Putnam, Angelica R; Chesier, Samuel H; Banerjee, Anuradha; Raffel, Corey; Van Ziffle, Jessica; et al.(2018). Oligodendrogliomas, IDH-mutant and 1p/19q-codeleted, arising during teenage years often lack TERT promoter mutation that is typical of their adult counterparts.. Acta neuropathologica communications, 6(1), 95. doi: 10.1186/s40478-018-0598-x. UCSF: Retrieved from: http://www.escholarship.org/uc/item/69404686Test
Acta neuropathologica communications, vol 6, iss 1مصطلحات موضوعية: Male, 0301 basic medicine, Mutant, 1p/19q Codeletion, lcsh:RC346-429, CIC, Promoter Regions, Genetic, Child, Telomerase, Pediatric, Brain Neoplasms, Teenager, Isocitrate Dehydrogenase, Idh mutation, TERT promoter, Female, IDH1, Human, Molecular neuro-oncology, Adolescent, Clinical Sciences, Oligodendroglioma, Biology, Tert promoter, Chromosomes, Pathology and Forensic Medicine, Promoter Regions, 03 medical and health sciences, Cellular and Molecular Neuroscience, Genetic, medicine, Humans, Tert promoter mutation, lcsh:Neurology. Diseases of the nervous system, Pair 19, Extramural, Neurosciences, medicine.disease, Molecular biology, IDH mutation, Good Health and Well Being, FGFR1, 030104 developmental biology, Mutation, Biochemistry and Cell Biology, Neurology (clinical), Chromosomes, Human, Pair 19, 1p/19q-codeletion
وصف الملف: application/pdf
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http://link.springer.com/article/10.1186/s40478-018-0598-xTest -
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المؤلفون: Ritu Roy, Jessica Van Ziffle, David A. Solomon, Michele M. Bloomer, Nicola J. Cadenas, Armin R. Afshar, James P. Grenert, Melike Pekmezci, Meredith Stevers, Courtney Onodera, Boris C. Bastian, W. Patrick Devine, Anuradha Banerjee, Bertil Damato, Adam B. Olshen
المصدر: Ophthalmology, vol 127, iss 6
Ophthalmologyمصطلحات موضوعية: Male, Tissue Fixation, Buccal swab, DNA Mutational Analysis, medicine.disease_cause, Ophthalmology & Optometry, Germline, Cohort Studies, 0302 clinical medicine, Child, Cancer, Pediatric, 0303 health sciences, Mutation, Paraffin Embedding, Retinoblastoma, High-Throughput Nucleotide Sequencing, DNA, Neoplasm, Retinoblastoma Binding Proteins, Child, Preschool, Public Health and Health Services, Female, medicine.symptom, Pediatric Research Initiative, Pediatric Cancer, Retinal Neoplasms, Ubiquitin-Protein Ligases, Clinical Sciences, Article, Eye Enucleation, 03 medical and health sciences, Germline mutation, Rare Diseases, Clinical Research, Opthalmology and Optometry, medicine, Genetics, Humans, Gene Silencing, Preschool, Anaplasia, ATRX, Germ-Line Mutation, 030304 developmental biology, business.industry, Neurosciences, Infant, DNA, medicine.disease, eye diseases, Ophthalmology, 030221 ophthalmology & optometry, Cancer research, Neoplasm, business
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https://escholarship.org/uc/item/69x937mnTest -
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المؤلفون: Sariah Allen, Cassie Kline, Carole Brathwaite, Mouied Alashari, Gourish Mondal, Ajay Ravindranathan, Pamela Doo, Brent A. Orr, David A. Solomon, Patrick Devine, Javier Villanueva-Meyer, Joanna J. Phillips, Carol S. Bruggers, Alberto Broniscer, David Samuel, Ossama M. Maher, Jessica Van Ziffle, Alyssa Reddy, Tarik Tihan, Rong Li, Samuel H. Cheshier, Arie Perry, Nicholas S Whipple, Laura K. Metrock, Matthew Hall, James P. Grenert, Lee-Way Jin, Anu Banerjee, Andrew W. Bollen, Corey Raffel, Courtney Onodera, Julieann C. Lee, Quynh T. Tran, Melike Pekmezci, Mitchel S. Berger, Reuben Antony, Jairo Barreto, Minesh P. Mehta, Ziad Khatib, Rohit Gupta, John T. Lucas, Nalin Gupta
المصدر: Acta Neuropathol
Acta neuropathologica, vol 139, iss 6مصطلحات موضوعية: 0301 basic medicine, Male, Lung Neoplasms, Pediatric cancer, Tyrosine kinase inhibitor, medicine.disease_cause, Epigenesis, Genetic, Exon, 0302 clinical medicine, Carcinoma, Non-Small-Cell Lung, 2.1 Biological and endogenous factors, Osimertinib, Aetiology, Non-Small-Cell Lung, Child, Cancer, Pediatric, Mutation, Brain Neoplasms, Histone H3, Bithalamic glioma, Diffuse midline glioma, Glioma, ErbB Receptors, Erlotinib, Child, Preschool, Female, Tyrosine kinase, Adolescent, EGFR, Molecular neuropathology, Clinical Sciences, Antineoplastic Agents, Biology, Afatinib, Article, Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, Rare Diseases, Genetic, Trametinib, Genetics, medicine, Humans, Epigenetics, Preschool, Protein Kinase Inhibitors, Neurology & Neurosurgery, Carcinoma, Human Genome, Neurosciences, medicine.disease, Brain Disorders, Brain Cancer, Orphan Drug, 030104 developmental biology, Protein kinase domain, Cancer research, Neurology (clinical), 030217 neurology & neurosurgery, Epigenesis
وصف الملف: application/pdf
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https://pubmed.ncbi.nlm.nih.gov/32303840Test -
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المؤلفون: Ivo Buchhalter, Arie Perry, Meredith Stevers, Anuradha Banerjee, J. Bryan Iorgulescu, Lukas Chavez, Paul A. Northcott, Damian Stichel, Jessica Van Ziffle, Andrew W. Bollen, Sabine Mueller, Boris C. Bastian, Tarik Tihan, Marcel Kool, Stefan M. Pfister, Nalin Gupta, Theodore Nicolaides, Andrey Korshunov, David Samuel, James P. Grenert, David A. Solomon
المصدر: Iorgulescu, JB; Van Ziffle, J; Stevers, M; Grenert, JP; Bastian, BC; Chavez, L; et al.(2018). Deep sequencing of WNT-activated medulloblastomas reveals secondary SHH pathway activation. Acta Neuropathologica, 135(4), 635-638. doi: 10.1007/s00401-018-1819-x. UCSF: Retrieved from: http://www.escholarship.org/uc/item/5941q3p8Test
Acta neuropathologica, vol 135, iss 4مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, media_common.quotation_subject, Clinical Sciences, Andrey, Article, Deep sequencing, Pathology and Forensic Medicine, Cohort Studies, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Gene Frequency, Humans, Hedgehog Proteins, Theology, Cerebellar Neoplasms, Child, media_common, Neurology & Neurosurgery, Neurosciences, Wnt signaling pathway, High-Throughput Nucleotide Sequencing, Art, Wnt Proteins, 030104 developmental biology, Mutation, Disease Progression, Female, Neurology (clinical), 030217 neurology & neurosurgery, Medulloblastoma, Signal Transduction
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::702e1ba20d39f28c0b8bb3169f6e5349Test
https://doi.org/10.1007/s00401-018-1819-xTest -
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المؤلفون: Bette K. Kleinschmidt-DeMasters, Nadejda M. Tsankova, Jessica Van Ziffle, David A. Solomon, Marc K. Rosenblum, Arie Perry, Meredith Stevers, Boris C. Bastian, Joanna J. Phillips, Tarik Tihan, Melike Pekmezci
المصدر: Acta Neuropathologica. 135:485-488
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, MAP Kinase Signaling System, Biology, Article, Pathology and Forensic Medicine, Cohort Studies, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, medicine, Humans, Neoplasm, Cerebellar Neoplasms, Child, Cerebrum, Extramural, Brain, Middle Aged, medicine.disease, Neoplasms, Neuroepithelial, 030104 developmental biology, medicine.anatomical_structure, Cancer research, Female, Neurology (clinical), Map kinase signaling, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e27e1fdd4b79507cdced9f4397ee8519Test
https://doi.org/10.1007/s00401-018-1820-4Test -
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المؤلفون: Marta Sabbadini, Jude M. Abadie, Anne Slavotinek, Jessica Van Ziffle, Mark N. Kvale, Hane Lee, Neil Risch, Pui-Yan Kwok, Heather H. Pua, Joseph T. Shieh, Ugur Hodoglugil
المصدر: European Journal of Medical Genetics. 60:504-508
مصطلحات موضوعية: Male, 0301 basic medicine, Developmental Disabilities, Mutation, Missense, Receptors, Cytoplasmic and Nuclear, Scoliosis, Biology, Frameshift mutation, 03 medical and health sciences, Protein Domains, Intellectual disability, Genetics, medicine, Humans, Missense mutation, Child, Genetics (clinical), Exome sequencing, Nuclear Proteins, Syndrome, General Medicine, Anatomy, medicine.disease, Hypotonia, Arnold-Chiari Malformation, Repressor Proteins, Phenotype, 030104 developmental biology, Palpebral fissure, Muscle Hypotonia, Autism, medicine.symptom, Protein Binding
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23ff7847a28beeb4f5eb70741ed2db92Test
https://doi.org/10.1016/j.ejmg.2017.07.003Test -
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المؤلفون: Zahra Al‐Hajri, Tara A. Saunders, Matthew Schniederjan, Andrew W. Bollen, Cassie Kline, Soonmee Cha, Dianne Wilson, Sean P. Ferris, Joanna J. Phillips, Irune Ruiz‐Diaz, Mariam Aboian, Jessica Van Ziffle, Corey Raffel, José E. Velázquez Vega, Tarik Tihan, Janna H. Neltner, Melike Pekmezci, Julieann C. Lee, Anu Banerjee, David A. Solomon, David Samuel, Nalin Gupta, Shino Magaki, Arie Perry, Courtney Onodera, Yunn-Yi Chen, James P. Grenert
المصدر: Brain Pathol
Brain pathology (Zurich, Switzerland), vol 30, iss 1مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, Kaplan-Meier Estimate, Central Nervous System Neoplasms, Exon, 0302 clinical medicine, CDKN2A, Neoplasms, Child, Telomerase, Cancer, screening and diagnosis, Tumor, biology, Brain Neoplasms, General Neuroscience, molecular neurooncology, Methylation, Exons, Genomics, Glioma, Neoplasms, Neuroepithelial, Neuroepithelial cell, Detection, HGNET, Child, Preschool, Female, brain tumor, Biotechnology, 4.2 Evaluation of markers and technologies, medicine.medical_specialty, Adolescent, Clinical Sciences, Brain tumor, Neuroepithelial, molecular neuro-oncology, Article, Pathology and Forensic Medicine, OLIG2, BCOR exon 15 internal tandem duplication, 03 medical and health sciences, Rare Diseases, Proto-Oncogene Proteins, Genetics, medicine, Biomarkers, Tumor, Humans, Preschool, EP300, Cyclin-Dependent Kinase Inhibitor p16, Neurology & Neurosurgery, high-grade neuroepithelial tumor, Neurosciences, Infant, Oligodendrocyte Transcription Factor 2, medicine.disease, Brain Disorders, Brain Cancer, molecular neuropathology, Repressor Proteins, Orphan Drug, 030104 developmental biology, Synaptophysin, biology.protein, Neurology (clinical), E1A-Associated p300 Protein, Biomarkers, 030217 neurology & neurosurgery, Transcription Factors
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0cc248f5a171382f1e7dc14495ac077Test
https://pubmed.ncbi.nlm.nih.gov/31104347Test