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 Neurology

مصطلحات 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

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 & Wilkins

مصطلحات 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

المؤلفون: Danny Miller, Steven W. Hwang, Paul D. Sponseller, Elizabeth K. Schorry, Jonathan J. Rios, Krishna V. Suresh, Majd Marrache

المصدر: JBJS reviews. 9(7)

مصطلحات موضوعية: medicine.medical_specialty, Neurofibromatosis 1, business.industry, Kyphosis, Scoliosis, Malignancy, medicine.disease, Natural history, Deformity, medicine, Spinal deformity, Humans, Orthopedics and Sports Medicine, Surgery, Radiology, medicine.symptom, Neurofibromatosis, business, Child, Early onset

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f33d73cf1ad94e553cd3d13807e3891Test
https://pubmed.ncbi.nlm.nih.gov/34297709Test

المؤلفون: Chie Emoto, Nathan Robison, Brigitte C. Widemann, Brian Weiss, Stewart Goldman, Jeffrey C. Allen, James H. Tonsgard, Alexander A. Vinks, Nancy Ratner, Michael Fisher, Jaishri O. Blakeley, Bruce R. Korf, Pamela L. Wolters, Coretta Thomas Robinson, Lloyd J. Edwards, Eva Dombi, Elizabeth K. Schorry, Scott R. Plotkin, Tsuyoshi Fukuda, Gary Cutter, Roger J. Packer

المصدر: Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 39(7)

مصطلحات موضوعية: MAPK/ERK pathway, Oncology, Adult, Male, Cancer Research, medicine.medical_specialty, Neurofibromatosis 1, Time Factors, Adolescent, Extracellular signal-regulated kinases, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Plexiform neurofibroma, Internal medicine, medicine, Humans, Neurofibromatosis, Protein Kinase Inhibitors, Mitogen-Activated Protein Kinase Kinases, Neurofibroma, Plexiform, business.industry, MEK inhibitor, Diphenylamine, medicine.disease, Magnetic Resonance Imaging, United States, Clinical trial, Treatment Outcome, 030220 oncology & carcinogenesis, Benzamides, Female, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::782b39baa93c2f345388ea33efabf554Test
https://pubmed.ncbi.nlm.nih.gov/33507822Test

المؤلفون: William J. Lavery, Elizabeth K. Schorry, Artem Barski, Andrew W. Lindsley, Susan Wiley

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

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

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

المؤلفون: William J, Lavery, Artem, Barski, Susan, Wiley, Elizabeth K, Schorry, Andrew W, Lindsley

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

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 Medicine

مصطلحات 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

المؤلفون: Suha Bachir, Mario Zuccarello, Abigail Koehler, Elizabeth K. Schorry, Scott Shapiro, Abdelkader Mahammedi, Soma Sengupta, Ravi N. Samy, Sanjit Shah

المصدر: International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 22, Iss 690, p 690 (2021)

مصطلحات موضوعية: Neurofibromatosis 2, neurofibromatosis type 2 (NF2), congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Brain tumor, Apoptosis, Review, Schwannoma, Catalysis, lcsh:Chemistry, Inorganic Chemistry, Meningioma, Molecular genetics, Meningeal Neoplasms, otorhinolaryngologic diseases, medicine, Animals, Humans, Physical and Theoretical Chemistry, Neurofibromatosis type 2, lcsh:QH301-705.5, neoplasms, Molecular Biology, Spectroscopy, Loss function, Cell Proliferation, Brain Neoplasms, business.industry, Organic Chemistry, Neuroma, Acoustic, General Medicine, medicine.disease, nervous system diseases, Computer Science Applications, Merlin (protein), lcsh:Biology (General), lcsh:QD1-999, vestibular schwannomas, Tumor progression, Mutation, Cancer research, meningiomas, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f079d4f39987b266724614bc704decedTest
https://doi.org/10.3390/ijms22020690Test