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: 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

المؤلفون: Karl Degenhardt, Mark P. Johnson, Rebecca C. Ahrens-Nicklas, Stefanie Kasperski, Matthew J. O'Connor, Alyssa Ritter, Sanmati Cuddapah

المصدر: American Journal of Medical Genetics Part A. 179:1042-1046

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Neurofibromatosis 1, Genotype, Heart disease, Cardiomyopathy, Left ventricular hypertrophy, Ultrasonography, Prenatal, Fetus, Pregnancy, Intensive Care Units, Neonatal, Prenatal Diagnosis, Genetics, Humans, Medicine, Neurofibromatosis, Family history, neoplasms, Genetics (clinical), Neurofibromatosis type I, Neurofibromin 1, business.industry, Pregnancy Outcome, Genetic disorder, medicine.disease, eye diseases, nervous system diseases, Radiography, Phenotype, Mutation, Female, Hypertrophy, Left Ventricular, Differential diagnosis, Cardiomyopathies, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c29e41bbb02a8f7301ff6fd8bab8ef61Test
https://doi.org/10.1002/ajmg.a.61123Test

المؤلفون: Eva H. Baker, Katherine E. Warren, An N Dang Do, Simona Bianconi, Forbes D. Porter

المصدر: American Journal of Medical Genetics Part A. 176:386-390

مصطلحات موضوعية: Central Nervous System, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, Central nervous system, Brain tumor, Article, Basal Ganglia, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Seizures, Basal ganglia, Genetics, medicine, Humans, Neurofibromatosis, Child, Genetics (clinical), Monomeric GTP-Binding Proteins, Neurons, Brain Neoplasms, business.industry, Metabolic disorder, Brain, nutritional and metabolic diseases, medicine.disease, Magnetic Resonance Imaging, Smith-Lemli-Opitz Syndrome, Cholesterol, 030104 developmental biology, medicine.anatomical_structure, Smith–Lemli–Opitz syndrome, Child, Preschool, Brain lesions, Brainstem, business, 030217 neurology & neurosurgery, Brain Stem

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb72146c753a61007f61160e601e2788Test
https://doi.org/10.1002/ajmg.a.38563Test

المؤلفون: Roope A. Kallionpää, Minna Pöyhönen, Tero Vahlberg, Sirkku Peltonen, Jussi Leppävirta, Elina Uusitalo, Susanna Timonen, Juha Peltonen

المصدر: American Journal of Medical Genetics Part A. 173:2641-2648

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Neurofibromatosis 1, Preeclampsia, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Health care, Genetics, medicine, Humans, Registries, Neurofibromatosis, Child, neoplasms, Finland, Genetics (clinical), Retrospective Studies, Fetus, Cesarean Section, Obstetrics, business.industry, Incidence, Medical record, Odds ratio, ta3121, medicine.disease, eye diseases, nervous system diseases, 3. Good health, Pregnancy Complications, 030104 developmental biology, Cohort, Female, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c07efb3939e6a46056b30270761bc506Test
https://doi.org/10.1002/ajmg.a.38372Test

المؤلفون: Joel Charrow, Zabin S. Patel, Robert Listernick, Sally E. Jensen, Jin Shei Lai

المصدر: American Journal of Medical Genetics Part A. 173:79-87

مصطلحات موضوعية: Adult, Male, Neurofibromatosis 1, Adolescent, Physical function, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Physical functioning, Surveys and Questionnaires, Genetics, Humans, Medicine, Neurofibromatosis, Child, Qualitative Research, Genetics (clinical), Aged, Neurofibroma, Plexiform, business.industry, Patient-centered outcomes, Middle Aged, Disfigurement, medicine.disease, Patient Outcome Assessment, Phenotype, Socioeconomic Factors, Conceptual framework, Child, Preschool, 030220 oncology & carcinogenesis, Quality of Life, Anxiety, Female, Self Report, medicine.symptom, business, 030217 neurology & neurosurgery, Qualitative research, Clinical psychology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74d0fdb7bc36d5a410ae5e51de232989Test
https://doi.org/10.1002/ajmg.a.37987Test

المؤلفون: Roy E. Strowd, Jaishri O. Blakeley, James J. Vredenburgh, Alessandro Olivi, Fausto J. Rodriguez, Edward S. Ahn, Roger E. McLendon, Aaron B. Chance, George I. Jallo

المصدر: American Journal of Medical Genetics Part A. 170:1455-1461

مصطلحات موضوعية: Adult, Diagnostic Imaging, Male, Pediatrics, medicine.medical_specialty, Neurofibromatosis 1, Biopsy, Brain tumor, Astrocytoma, Article, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, Young adult, Neurofibromatosis, Genetics (clinical), Retrospective Studies, Pilocytic astrocytoma, business.industry, Case-control study, Brain, Retrospective cohort study, medicine.disease, Combined Modality Therapy, Phenotype, Treatment Outcome, Case-Control Studies, 030220 oncology & carcinogenesis, Cohort, Disease Progression, Female, Neoplasm Grading, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d1f8f9f8289da97038da94ea264b437Test
https://doi.org/10.1002/ajmg.a.37622Test

المؤلفون: Pamela L. Wolters, Katherine M. Burns, Andrea Gillespie, Mary Anne Toledo-Tamula, Andrea Baldwin, William N. Dudley, Staci Martin, Eva Dombi, Brigitte C. Widemann

المصدر: Am J Med Genet A

مصطلحات موضوعية: Male, Biopsychosocial model, Neurofibromatosis 1, Adolescent, Emotions, Population, Pain, Disease, Severity of Illness Index, Article, Quality of life, Surveys and Questionnaires, Adaptation, Psychological, Genetics, medicine, Humans, Child, education, Genetics (clinical), Neurofibroma, Plexiform, Social stress, education.field_of_study, business.industry, Mental Disorders, Chronic pain, medicine.disease, Caregivers, Quality of Life, Anxiety, Female, Pain catastrophizing, medicine.symptom, business, Clinical psychology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc104a8d77243c6071b79565d35dc3fbTest
https://doi.org/10.1002/ajmg.a.37123Test

المؤلفون: Piranit Nik Kantaputra, Tumtip Sangruchi, Chanin Limwongse, Ans M.W. van den Ouweland

المساهمون: Clinical Genetics

المصدر: American Journal of Medical Genetics Part A, 158A(7), 1750-1753. Wiley-Liss Inc.

مصطلحات موضوعية: medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Plexiform neurofibroma, Genes, Neurofibromatosis 1, Genetics, Medicine, Humans, Eye Abnormalities, Neurofibromatosis, NF1 Mutation, Genetics (clinical), Aged, Neurofibroma, Plexiform, biology, Blindness, Base Sequence, business.industry, Exons, Middle Aged, medicine.disease, Neurofibromin 1, Dermatology, Magnetic Resonance Imaging, Face, Mutation, biology.protein, Tears, Female, sense organs, business, Novel mutation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da9a1b7d2fd47b5b4da948d3cd020b1cTest
https://hdl.handle.net/1765/74074Test