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

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

المؤلفون: David Viskochil, Robert J. Hopkin, Austin M. Stevens, Heidi J. Kalkwarf, Lisa J. Martin, Jaya K. George-Abraham, Elizabeth K. Schorry, Margaret B. Rieley, David A. Stevenson, Heather Hanson

المصدر: American Journal of Medical Genetics Part A. 161:921-926

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, Bone density, Motor Activity, Fractures, Bone, Young Adult, Bone Density, Risk Factors, Surveys and Questionnaires, Prevalence, Genetics, medicine, Humans, Young adult, Neurofibromatosis, Child, neoplasms, Genetics (clinical), Retrospective Studies, Bone mineral, Bone Diseases, Developmental, business.industry, Incidence (epidemiology), Retrospective cohort study, medicine.disease, Physical activity level, nervous system diseases, Calcium, Dietary, Osteopenia, Child, Preschool, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66242fcf3e5e93ab96d9deba77a99586Test
https://doi.org/10.1002/ajmg.a.35541Test

المؤلفون: David A. Stevenson, Mary Murray, Xiaoming Sheng, John C. Carey, Elizabeth K. Schorry, Laurie J. Moyer-Mileur, Jacques L. D’Astous, Hillarie Slater, Heather Hanson, David Viskochil

المصدر: Bone. 44:585-589

مصطلحات موضوعية: Male, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Histology, Adolescent, Physiology, Endocrinology, Diabetes and Metabolism, Geometry, Article, Lower limb, Image Interpretation, Computer-Assisted, medicine, Humans, Tibia, Neurofibromatosis, Quantitative computed tomography, Child, neoplasms, Leg, medicine.diagnostic_test, business.industry, Bowing, Anatomy, musculoskeletal system, medicine.disease, nervous system diseases, Peripheral, Pseudarthrosis, Child, Preschool, Bone mineral content, Female, Tomography, X-Ray Computed, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96cdee7429d0ffa76e56dd8e93aa3640Test
https://doi.org/10.1016/j.bone.2008.12.002Test

المؤلفون: R. L. Listernick, M. Weinstein, David Viskochil, David H. Gutmann, Kathryn N. North, Michael Fisher, Joshua B. Rubin, Elizabeth K. Schorry, Kimberly J. Johnson

مصطلحات موضوعية: Oncology, Male, Optic Nerve Glioma, Parents, Cancer Research, medicine.medical_specialty, Pathology, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Brain tumor, medicine.disease_cause, Article, Genomic Imprinting, Internal medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, Neurofibromatosis, neoplasms, Genetics (clinical), Retrospective Studies, business.industry, Brain Neoplasms, Cancer, Retrospective cohort study, medicine.disease, Human genetics, eye diseases, nervous system diseases, Etiology, Female, Optic nerve glioma, business, Carcinogenesis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cbf5a840243fdc75b22c301dc9653e5Test
https://europepmc.org/articles/PMC3693850Test/

المؤلفون: Bartlett D. Moore, Elizabeth K. Schorry, Cynthia A. Gerhardt, Robert B. Noll, Kathryn Vannatta, Jennifer Reiter-Purtill, Anne Lovell

المصدر: American journal of medical genetics. Part A. (19)

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, media_common.quotation_subject, education, Emotions, Child Behavior, Peer Group, Developmental psychology, Interpersonal relationship, Epidemiology, Genetics, medicine, Humans, Interpersonal Relations, Child, Social Behavior, Genetics (clinical), Depression (differential diagnoses), media_common, Politeness, Peer group, nervous system diseases, El Niño, Prosocial behavior, Psychology, Psychosocial

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::933eed14b78579ac381c1f95fdc65d6fTest
https://pubmed.ncbi.nlm.nih.gov/17726688Test