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1دورية أكاديمية
المؤلفون: Jonathan M. Payne, Stephen J. C. Hearps, Karin S. Walsh, Iris Paltin, Belinda Barton, Nicole J. Ullrich, Kristina M. Haebich, David Coghill, Gerard A. Gioia, Alan Cantor, Gary Cutter, James H. Tonsgard, David Viskochil, Celiane Rey‐Casserly, Elizabeth K. Schorry, Joseph D. Ackerson, Laura Klesse, Michael J. Fisher, David H. Gutmann, Tena Rosser, Roger J. Packer, Bruce Korf, Maria T. Acosta, Kathryn N. North, the NF Clinical Trials Consortium
المصدر: Annals of Clinical and Translational Neurology, Vol 6, Iss 12, Pp 2555-2565 (2019)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2328-9503Test
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المؤلفون: Peter M K de Blank, Andrea M Gross, Srivandana Akshintala, Jaishri O Blakeley, Gideon Bollag, Ashley Cannon, Eva Dombi, Jason Fangusaro, Bruce D Gelb, Darren Hargrave, AeRang Kim, Laura J Klesse, Mignon Loh, Staci Martin, Christopher Moertel, Roger Packer, Jonathan M Payne, Katherine A Rauen, Jonathan J Rios, Nathan Robison, Elizabeth K Schorry, Kevin Shannon, David A Stevenson, Elliot Stieglitz, Nicole J Ullrich, Karin S Walsh, Brian D Weiss, Pamela L Wolters, Kaleb Yohay, Marielle E Yohe, Brigitte C Widemann, Michael J Fisher
المصدر: Neuro Oncol
Neuro-Oncology, vol 24, iss 11مصطلحات موضوعية: Mitogen-Activated Protein Kinase Kinases, Neurofibroma, Plexiform, Cancer Research, low-grade glioma, Neurofibroma, Consensus, Neurofibromatosis 1, Reviews, neurofibromatosis type 1, RASopathy, plexiform neurofibromas, Plexiform, Oncology, Humans, Neurology (clinical), Child, MEK inhibitors, Protein Kinase Inhibitors
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdc09be891aa248dab39ba370d386094Test
https://pubmed.ncbi.nlm.nih.gov/35788692Test -
3The Use of MEK Inhibitors in Neurofibromatosis Type 1–Associated Tumors and Management of Toxicities
المؤلفون: Elizabeth K. Schorry, Justin T. Jordan, Scott R. Plotkin, Nicole J. Ullrich, Tena Rosser, Heather B. Radtke, David Viskochil, Laura J. Klesse, Kaleb Yohay, Pamela Knight
المصدر: The Oncologist
مصطلحات موضوعية: 0301 basic medicine, Oncology, Cancer Research, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Population, Antineoplastic Agents, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Neurofibromatosis, Clinical care, education, Child, neoplasms, Protein Kinase Inhibitors, Mitogen-Activated Protein Kinase Kinases, Neurofibroma, Plexiform, education.field_of_study, MEK inhibitor, business.industry, Plexiform neurofibroma, medicine.disease, nervous system diseases, Clinical trial, 030104 developmental biology, Symptom Management and Supportive Care, 030220 oncology & carcinogenesis, business, Medical therapy, Neurofibromatosis type 1
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bc73b841a6fb57a26fa82c562ce136bTest
http://europepmc.org/articles/PMC7356675Test -
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المؤلفون: Joseph D. Ackerson, Celiane Rey-Casserly, David Coghill, Bruce R. Korf, Laura J. Klesse, Kathryn N. North, Maria T. Acosta, Karin S. Walsh, Stephen Hearps, Jonathan M. Payne, Michael Fisher, Tena Rosser, Gerard A. Gioia, Kristina M Haebich, Nicole J. Ullrich, David Viskochil, Iris Paltin, Alan B. Cantor, James H. Tonsgard, Elizabeth K. Schorry, Gary Cutter, Roger J. Packer, Belinda Barton, David H. Gutmann
المصدر: Annals of Clinical and Translational Neurology, Vol 6, Iss 12, Pp 2555-2565 (2019)
Annals of Clinical and Translational Neurologyمصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, Neurosciences. Biological psychiatry. Neuropsychiatry, law.invention, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, Randomized controlled trial, Double-Blind Method, law, Outcome Assessment, Health Care, medicine, Humans, Cognitive Dysfunction, Lovastatin, Child, RC346-429, Reliability (statistics), Research Articles, Clinical Trials as Topic, business.industry, Mechanism (biology), General Neuroscience, Neuropsychology, Reproducibility of Results, Cognition, Confirmatory factor analysis, Clinical trial, 030104 developmental biology, Clinical research, Female, Neurology (clinical), Neurology. Diseases of the nervous system, Hydroxymethylglutaryl-CoA Reductase Inhibitors, business, 030217 neurology & neurosurgery, Biomarkers, Research Article, RC321-571
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be10430123fde04023ee196e4dda8d9eTest
https://doaj.org/article/213a2426d5c645e994f7b2496477dbb2Test -
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المؤلفون: Matthias A. Karajannis, A Taylor, Diana Baralle, Rosalie E. Ferner, A Gomes, Dave Viskochil, J Toelen, Rianne Oostenbrink, Christopher L. Moertel, Laura Papi, Conxi Lázaro, H Wu, Michael D. Wilson, Shay Ben-Shachar, Pierre Wolkenstein, Sirkku Peltonen, Plotkin, P Joly, Dominique C. Pichard, Michael Fisher, Steinke-Lange, T Frébourg, P Ciavarelli, H Hanson, Mia MacCollin, I Blanco, D Bessis, Meena Upadhyaya, C Cassiman, Dusica Babovic-Vuksanovic, Riccardi, Juha Peltonen, James H. Tonsgard, B Poppe, Katharina Wimmer, M Larralde, P Pancza, A Heiberg, Bruce R. Korf, Mautner, D. G. R. Evans, Robert Listernick, Tena Rosser, S Barbarot, Eva Trevisson, D Stevenson, M Anten, Eduard Serra, Miriam J. Smith, Christopher J Hammond, Susan M Huson, Yemima Berman, Marco Giovannini, C Mallucci, Anat Stemmer-Rachamimov, G Tadini, Robert A. Avery, N Rezende, Nicole J. Ullrich, CO Hanemann, SM Stivaros, Hildegard Kehrer-Sawatzki, A Parry, D Kroshinsky, Maurizio Clementi, JT Jordan, A Varan, Joanne Ngeow, A Mueller, G Zadeh, Michel Kalamarides, D Halliday, M Link, Elizabeth K. Schorry, Roger J. Packer, Vanessa L. Merker, David H. Gutmann, Arthur S. Aylsworth, Karin Soares Gonçalves Cunha, V-F Mautner, Amanda L. Bergner, David A. Stevenson, Eric Legius, L Le, M Ruggieri, Fred G. Barker, Ludwine Messiaen, Jan M. Friedman, J. Blakeley, Kaleb Yohay, Katherine A. Rauen, LO Rodrigues
المساهمون: Pediatrics
المصدر: Genetics in Medicine
Genetics in Medicine, 23(8), 1506-1513. Lippincott Williams & Wilkinsمصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Consensus, Neurofibromatosis 1, Delphi method, MEDLINE, MUTATION ANALYSIS, MOSAICISM, Patient advocacy, Article, 03 medical and health sciences, 0302 clinical medicine, REVEALS, SEQUENCE VARIANTS, medicine, Humans, Cafe-au-Lait Spots, Genetic Testing, Medical physics, Neurofibromatosis, Genetics (clinical), Genetic testing, Genetics & Heredity, Legius syndrome, Science & Technology, IDENTIFICATION, medicine.diagnostic_test, business.industry, medicine.disease, GENE, 030104 developmental biology, CHOROIDAL ABNORMALITIES, 030220 oncology & carcinogenesis, business, Life Sciences & Biomedicine
وصف الملف: text; application/pdf; Print-Electronic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45cd2826f627d5badf189e97ab322203Test
https://orca.cardiff.ac.uk/id/eprint/143733/1/s41436-021-01170-5.pdfTest -
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المصدر: Clinical Epigenetics. 12
مصطلحات موضوعية: Genetics, Scaffold protein, 0303 health sciences, Biology, 3. Good health, 03 medical and health sciences, EHMT1, 0302 clinical medicine, Embryonic morphogenesis, Epigenetics, Histone deacetylase, Haploinsufficiency, Molecular Biology, Gene, 030217 neurology & neurosurgery, Genetics (clinical), 030304 developmental biology, Developmental Biology, Kleefstra Syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::67393e0c8c492e74dd44f47820b4da1bTest
https://doi.org/10.1186/s13148-019-0802-2Test -
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المؤلفون: Kristen L. Sund, Kenneth M. Kaufman, Elizabeth K. Schorry, Cynthia A. Prows, Andrew DiStasio, Biplab Dasgupta, Beth M. Kline-Fath, Ashley M. Driver, Milene Donlin, Ranjith M. Muraleedharan, Rolf W. Stottmann, Shabnam Pooya
المصدر: Human Molecular Genetics. 26:4836-4848
مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, Microcephaly, WD40 Repeats, Embryonic Development, Biology, medicine.disease_cause, Coatomer Protein, Mice, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Intellectual Disability, Exome Sequencing, Genetics, medicine, Animals, Humans, Allele, Child, Molecular Biology, Genetics (clinical), Exome sequencing, 030304 developmental biology, 0303 health sciences, Mutation, Homozygote, Articles, General Medicine, medicine.disease, Null allele, COPB2, Phenotype, Pedigree, Disease Models, Animal, Corticogenesis, 030104 developmental biology, Female, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5acbfeea2dc39e8d01767f7eeffca177Test
https://doi.org/10.1093/hmg/ddx362Test -
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المؤلفون: Nicole J. Ullrich, Elizabeth K. Schorry, Jeffrey C. Allen, Jaishri O. Blakeley, Eva Dombi, James H. Tonsgard, Alyssa Reddy, Coretta Thomas, Sabine Mueller, Stewart Goldman, Karin S. Walsh, Lloyd Edwards, Andrea M. Gross, Bruce R. Korf, Wade Clapp, Roger J. Packer, Michael D. Prados, Michael Fisher
المصدر: Neuro-Oncology
مصطلحات موضوعية: Oncology, Cancer Research, medicine.medical_specialty, business.industry, MEK inhibitor, Peripheral nerve stimulation, Time to treatment, Binimetinib, medicine.disease, Neurofibromatosis, Clinical trial, chemistry.chemical_compound, chemistry, Plexiform neurofibroma, Internal medicine, Medicine, AcademicSubjects/MED00300, AcademicSubjects/MED00310, Neurology (clinical), business, Neurofibromatoses
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2877624fa4661e09d0f91af7c2b53ab3Test
http://europepmc.org/articles/PMC7715338Test -
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المصدر: Clinical Epigenetics
مصطلحات موضوعية: Heart Defects, Congenital, Male, COMPASS complex, Demethylase, Lysine methyltransferase, Review, CBP, Craniofacial Abnormalities, Kleefstra syndrome, Intellectual Disability, Humans, Abnormalities, Multiple, KDM6A, Histone deacetylase, Rubinstein-Taybi syndrome, EP300, Kabuki syndrome, EHMT1, KMT2D, KMT2C, Hematologic Diseases, Neoplasm Proteins, DNA-Binding Proteins, Phenotype, Vestibular Diseases, Face, Female, Epigenetics, Chromosome Deletion, Chromosomes, Human, Pair 9
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::e56dfaa52ca72ce8a005b41e8a2a27a1Test
https://pubmed.ncbi.nlm.nih.gov/31924266Test -
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المؤلفون: Lynne M. Bird, Justin T. Jordan, Laura Dosa, Sébastien Perreault, Punita Gupta, Surya P. Rednam, Nicole J. Ullrich, Donald Basel, Linda M. Randolph, Leah W. Burke, Andrea Shugar, Angela Sharp, Ludwine Messiaen, Carey McDougall, Alicia Gomes, Andrea M. Lewis, Maurice J. Mahoney, Rachel K. Hachen, Marie T. McDonald, Katherine A. Rauen, Colette DeFilippo, Carmelo Piscopo, Maria Cristina Digilio, Sandra Janssens, Mary Ella M Pierpont, Lois J. Starr, Eric Legius, Michael F. Wangler, G. Bradley Schaefer, Arthur S. Aylsworth, Pamela Trapane, Ashraf Syed, Laurence E. Walsh, Alesha D. Hicks, Emily Wakefield, Robert Listernick, Nancy J. Mendelsohn, Elaine H. Zackai, Fortunato Lonardo, Dinel A. Pond, Robert S. Greenwood, Alessandro De Luca, Elizabeth K. Schorry, Rianne Oostenbrink, Katharina Wimmer, Ellen Denayer, Felicity Collins, Peter Kannu, Daryl A. Scott, S. Lane Rutledge, Yolanda Martin, Shelley K. Dills, Amedeo A. Azizi, Kristi J. Jones, David T. Miller, Gary Bellus, Yunjia Chen, Tom Callens, Magdalena Koczkowska, Kathleen Claes, Rick van Minkelen, Mayra Martinez Ojeda, Ashley Cannon, Bruce R. Korf, Cristin Griffis, Maria Blazo, Mari Mori, Veronica Saletti, Elizabeth Siqveland, Concepción Hernández-Chico
المساهمون: Pediatrics, Clinical Genetics
المصدر: Genetics in Medicine, 21(4), 867-876. Lippincott Williams & Wilkins
Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 4
GENETICS IN MEDICINE
Genetics in Medicineمصطلحات موضوعية: 0301 basic medicine, Male, CHILDREN, 030105 genetics & heredity, GUIDELINES, neurofibroma, Correlation, Medicine and Health Sciences, Type 1 Neurofibromatosis, Neurofibroma, Child, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), learning difficulties, Genetics (clinical), Sequence Deletion, Genetics, Pediatric, Genetics & Heredity, Neurofibromin 1, Learning Disabilities, ASSOCIATION, genotype–phenotype correlation, Plexiform, Child, Preschool, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, NERVE SHEATH TUMORS, Female, p.Met992del, Adult, congenital, hereditary, and neonatal diseases and abnormalities, Heterozygote, VONRECKLINGHAUSEN NEUROFIBROMATOSIS, Neurofibromatosis 1, Adolescent, Clinical Sciences, Mutation, Missense, Biology, genotype-phenotype correlation, Article, Genotype phenotype, Neurofibromatosis, 03 medical and health sciences, Young Adult, Rare Diseases, Clinical Research, medicine, Humans, Genetic Predisposition to Disease, Clinical phenotype, Preschool, Gene, neoplasms, Genetic Association Studies, Neurofibroma, Plexiform, MUTATIONS, OPTIC PATHWAY TUMORS, Neurosciences, Correction, Biology and Life Sciences, Infant, SOUTH EAST WALES, medicine.disease, NOONAN SYNDROME, nervous system diseases, Brain Disorders, 030104 developmental biology, NF1, Mutation, Noonan syndrome, TYPE-1 NEUROFIBROMATOSIS, Missense
وصف الملف: Print-Electronic; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d2d562e93f2c1ec9bece7f0d68c99acTest
https://lirias.kuleuven.be/handle/123456789/627148Test
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