المؤلفون: Ferner, Rosalie E, Bakker, Annette, Elgersma, Ype, Evans, D Gareth R, Giovannini, Marco, Legius, Eric, Lloyd, Alison, Messiaen, Ludwine M, Plotkin, Scott, Reilly, Karlyne M, Schindeler, Aaron, Smith, Miriam J, Ullrich, Nicole J, Widemann, Brigitte, Sherman, Larry S

المصدر: American Journal of Medical Genetics Part A. 179(6)

مصطلحات موضوعية: Cancer, Rare Diseases, Pediatric, Neurosciences, Neurofibromatosis, Animals, Disease Susceptibility, Humans, Neurilemmoma, Neurofibromatoses, Neurofibromatosis 1, Neurofibromatosis 2, Skin Neoplasms, neurofibromatosis 1, neurofibromatosis 2, schwannomatosis, Genetics, Clinical Sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6qq4392bTest

المؤلفون: Fisher, Michael J, Belzberg, Allan J, de Blank, Peter, De Raedt, Thomas, Elefteriou, Florent, Ferner, Rosalie E, Giovannini, Marco, Harris, Gordon J, Kalamarides, Michel, Karajannis, Matthias A, Kim, AeRang, Lázaro, Conxi, Le, Lu Q, Li, Wei, Listernick, Robert, Martin, Staci, Morrison, Helen, Pasmant, Eric, Ratner, Nancy, Schorry, Elisabeth, Ullrich, Nicole J, Viskochil, David, Weiss, Brian, Widemann, Brigitte C, Zhu, Yuan, Bakker, Annette, Serra, Eduard

المصدر: American Journal of Medical Genetics Part A. 176(5)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Rare Diseases, Cancer, Neurosciences, Biotechnology, Pediatric, Brain Cancer, Neurofibromatosis, Brain Disorders, Animals, Disease Management, Disease Models, Animal, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Molecular Diagnostic Techniques, Neurilemmoma, Neurofibromatoses, Neurofibromatosis 1, Neurofibromatosis 2, Skin Neoplasms, Translational Research, Biomedical, autism, conference, ependymoma, glioma, malignant peripheral nerve sheath tumor, meningioma, merlin, neurofibroma, neurofibromatosis, neurofibromin, schwannoma, schwannomatosis, pseudoarthrosis, Genetics, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5hd217gpTest

المؤلفون: Blakeley, Jaishri O, Bakker, Annette, Barker, Anne, Clapp, Wade, Ferner, Rosalie, Fisher, Michael J, Giovannini, Marco, Gutmann, David H, Karajannis, Matthias A, Kissil, Joseph L, Legius, Eric, Lloyd, Alison C, Packer, Roger J, Ramesh, Vijaya, Riccardi, Vincent M, Stevenson, David A, Ullrich, Nicole J, Upadhyaya, Meena, Stemmer‐Rachamimov, Anat

المصدر: American Journal of Medical Genetics Part A. 173(6)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Immunology, Brain Disorders, Neurofibromatosis, Pediatric, Rare Diseases, Orphan Drug, Cancer, Pediatric Cancer, Pediatric Research Initiative, Neurosciences, Brain Cancer, Child, Humans, Neurilemmoma, Neurofibromatoses, Neurofibromatosis 1, Neurofibromatosis 2, Pediatrics, Skin Neoplasms, neurofibromatosis type 1, neurofibromatosis type 2, pediatric tumors, rare disease, schwannomatosis, therapeutic discovery, Genetics, Clinical Sciences, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/32t721k9Test

المؤلفون: Widemann, Brigitte C, Acosta, Maria T, Ammoun, Sylvia, Belzberg, Allan J, Bernards, Andre, Blakeley, Jaishri, Bretscher, Antony, Cichowski, Karen, Clapp, D Wade, Dombi, Eva, Evans, Gareth D, Ferner, Rosalie, Fernandez‐Valle, Cristina, Fisher, Michael J, Giovannini, Marco, Gutmann, David H, Hanemann, C Oliver, Hennigan, Robert, Huson, Susan, Ingram, David, Kissil, Joe, Korf, Bruce R, Legius, Eric, Packer, Roger J, McClatchey, Andrea I, McCormick, Frank, North, Kathryn, Pehrsson, Minja, Plotkin, Scott R, Ramesh, Vijaya, Ratner, Nancy, Schirmer, Susann, Sherman, Larry, Schorry, Elizabeth, Stevenson, David, Stewart, Douglas R, Ullrich, Nicole, Bakker, Annette C, Morrison, Helen

المصدر: American Journal of Medical Genetics Part A. 164(3)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Clinical Sciences, Brain Disorders, Cancer, Genetics, Neurosciences, Neurofibromatosis, Pediatric Research Initiative, Rare Diseases, Pediatric, Intellectual and Developmental Disabilities (IDD), Humans, Neurilemmoma, Neurofibromatoses, Neurofibromatosis 1, Neurofibromatosis 2, Skin Neoplasms, neurofibromatosis type 1, neurofibromatosis type 2, NF1, NF2, schwannomatosis, tumor suppressor, SMARCB1, merlin neurofibromin, preclinical models, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/2694n4rgTest

المؤلفون: Una-Marie, Sheerin, Paul, Holmes, Lucy, Childs, Amit, Roy, Rosalie E, Ferner

المصدر: American Journal of Medical Genetics Part A. 188:3009-3015

مصطلحات موضوعية: Adult, Neurofibromatosis 1, Cardiovascular Abnormalities, Genetics, Humans, Vascular Diseases, Magnetic Resonance Imaging, Referral and Consultation, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d2e7439b7c54e55903d9a48375ca1f1Test
https://doi.org/10.1002/ajmg.a.62931Test

المؤلفون: Rebecca Burns, Kristin Niendorf, Kathleen Steinberg, Amy Mueller, Ina Ly, Justin T. Jordan, Scott R. Plotkin, Stephanie R. Hicks

المصدر: American Journal of Medical Genetics Part A. 188:2413-2420

مصطلحات موضوعية: Neurofibromatosis 2, Neurofibromatosis 1, Skin Neoplasms, Neurofibromatoses, Genetics, Humans, Genetic Testing, Neurilemmoma, Genetics (clinical), Retrospective Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2406ed800002c20d94c7357a37a8830Test
https://doi.org/10.1002/ajmg.a.62845Test

المؤلفون: Line Kenborg, Susanne Oksbjerg Dalton, Elisabeth Wreford Andersen, Line Elmerdahl Frederiksen, John R. Østergaard, Jeanette Falck Winther, Karoline Doser, Jens Richardt Møllegaard Jepsen, Sven Asger Sørensen, John J. Mulvihill, Pernille Envold Bidstrup, Anne Katrine Duun-Henriksen, Christoffer Johansen, Vincent M. Riccardi, Anja Krøyer, Hanne Hove

المصدر: Kenborg, L, Andersen, E W, Duun-Henriksen, A K, Jepsen, J R M, Doser, K, Dalton, S O, Bidstrup, P E, Krøyer, A, Frederiksen, L E, Johansen, C, Østergaard, J R, Hove, H, Sørensen, S A, Riccardi, V M, Mulvihill, J J & Winther, J F 2021, ' Psychiatric disorders in individuals with neurofibromatosis 1 in Denmark : A nationwide register-based cohort study ', American Journal of Medical Genetics. Part A, vol. 185, no. 12, pp. 3706-3716 . https://doi.org/10.1002/ajmg.a.62436Test

مصطلحات موضوعية: Male, medicine.medical_specialty, Neurofibromatosis 1, Autism Spectrum Disorder, Denmark, Adjustment disorders, Population, International Classification of Diseases, Risk Factors, Intellectual Disability, neurofibromatosis 1, cohort study, Genetics, medicine, Humans, Psychiatric hospital, Child, Psychiatry, education, Genetics (clinical), Depression (differential diagnoses), Proportional Hazards Models, Depressive Disorder, education.field_of_study, business.industry, Mental Disorders, Infant, medicine.disease, population-based, Substance abuse, psychiatric disorders, Treatment Outcome, Psychotic Disorders, Attention Deficit Disorder with Hyperactivity, Schizophrenia, Child, Preschool, Cohort, Female, business, Cohort study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0de89207fde3c02649bfb5efa7a1b0e6Test
https://doi.org/10.1002/ajmg.a.62436Test

المؤلفون: Beth Stronach, Lisa Schoyer, Dominic Esposito, Katherine A. Rauen, Edjay R. Hernandez, Leslie G. Biesecker, Bruce D. Gelb, Mignon L. Loh, Andrea M. Gross, Pamela L. Wolters, Deborah K. Morrison, Megan N. Frone, Frank McCormick, Karen W. Gripp, Eric Legius, Lisa Schill, Staci Martin, Sharon A. Savage, Marielle E. Yohe, Brigitte C. Widemann, Douglas R. Stewart, Dina Zand

المصدر: Am J Med Genet A

مصطلحات موضوعية: Heart Defects, Congenital, Research Report, Oncology, medicine.medical_specialty, Neurofibromatosis 1, Breakthrough therapy, RASopathy, Cardiofaciocutaneous syndrome, Article, Costello syndrome, Ectodermal Dysplasia, Internal medicine, Biomarkers, Tumor, Genetics, medicine, Humans, Molecular Targeted Therapy, Neurofibromatosis, Intersectoral Collaboration, Genetics (clinical), business.industry, Costello Syndrome, Noonan Syndrome, Facies, medicine.disease, National Cancer Institute (U.S.), United States, Failure to Thrive, Clinical trial, Mutation, ras Proteins, Selumetinib, Noonan syndrome, business, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d3834d0c8df8d1fee6a93a60553d8e6Test
https://doi.org/10.1002/ajmg.a.61485Test

المؤلفون: Mark J. Stephan, Jacob Hogue, Benjamin Garren

المصدر: American Journal of Medical Genetics Part A. 182:195-200

مصطلحات موضوعية: Heart Defects, Congenital, Neuroblastoma RAS viral oncogene homolog, Neurofibromatosis 1, Adolescent, Biology, RASopathy, medicine.disease_cause, Cardiofaciocutaneous syndrome, GTP Phosphohydrolases, Young Adult, Germline mutation, Costello syndrome, Ectodermal Dysplasia, Intellectual Disability, Genetics, medicine, Humans, Genetic Predisposition to Disease, Rhabdomyosarcoma, Embryonal, HRAS, Child, Germ-Line Mutation, Genetics (clinical), Mitogen-Activated Protein Kinase Kinases, Costello Syndrome, Noonan Syndrome, Facies, Membrane Proteins, medicine.disease, Failure to Thrive, Phenotype, ras Proteins, Cancer research, Noonan syndrome, Female, KRAS

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35dafab6ab6c6176eefb9b6e43434bcdTest
https://doi.org/10.1002/ajmg.a.61395Test

المؤلفون: Christopher L. Moertel, Margaret Semrud-Clikeman, Elizabeth I. Pierpont, Alana M. McNeill, Katherine Sommer, Allison M. H. Foy, Rebekah L. Hudock, Mary Ella M Pierpont, Ryan Shanley, Susan A. Berry

المصدر: American Journal of Medical Genetics Part A. 179:2433-2446

مصطلحات موضوعية: Male, Parents, 0301 basic medicine, Neurofibromatosis 1, Adolescent, Emotions, Psychological intervention, Child Behavior, Emotional functioning, 030105 genetics & heredity, 03 medical and health sciences, Rating scale, Surveys and Questionnaires, Genetics, Humans, Medicine, Attention deficit hyperactivity disorder, Genetic Predisposition to Disease, Neurofibromatosis, Child, Genetic Association Studies, Genetics (clinical), Depression (differential diagnoses), business.industry, Siblings, Noonan Syndrome, Age Factors, medicine.disease, Phenotype, 030104 developmental biology, Anxiety, Noonan syndrome, Female, Self Report, medicine.symptom, business, Clinical psychology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7501b6c7bb53898efb456936f97b5acTest
https://doi.org/10.1002/ajmg.a.61361Test