المؤلفون: Hilde Brems, Eric Legius

المصدر: Child's Nervous System. 36:2285-2295

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, medicine.medical_treatment, Disease, Nerve Sheath Neoplasms, Targeted therapy, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Genes, Neurofibromatosis 1, medicine, Humans, Neurofibroma, Outpatient clinic, Neurofibromatosis, Child, Legius syndrome, biology, Mosaicism, business.industry, Cafe-au-Lait Spots, General Medicine, medicine.disease, Dermatology, Neurofibromin 1, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Quality of Life, biology.protein, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f3226e36b7cac0320e93cad06890c9fTest
https://doi.org/10.1007/s00381-020-04771-8Test

المؤلفون: Nanette B. Silverberg

المصدر: Clinics in Dermatology. 38:462-466

مصطلحات موضوعية: Neurofibromatosis 1, Single-Gene Defects, Administration, Topical, Dermatology, Disease, Computational biology, Biology, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Exome Sequencing, medicine, Humans, Gene, Exome sequencing, Gene Editing, 030203 arthritis & rheumatology, Ectodermal Dysplasia 1, Anhidrotic, Anticholesteremic Agents, Genodermatosis, Skin Diseases, Genetic, medicine.disease, Compendium, Ustekinumab, Human genome, Epidermolysis Bullosa, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e25387c277913e9624902e5dc553d2eTest
https://doi.org/10.1016/j.clindermatol.2020.03.006Test

المؤلفون: Camilla Chello, Alvise Sernicola, Giovanni Paolino, Teresa Grieco

المصدر: Anais Brasileiros de Dermatologia, Volume: 96, Issue: 5, Pages: 638-640, Published: 18 OCT 2021
Anais Brasileiros de Dermatologia
Anais Brasileiros de Dermatologia, Vol 96, Iss 5, Pp 638-640 (2021)

مصطلحات موضوعية: Adult, medicine.medical_specialty, Neurofibromatosis 1, Dermatology, Disease, Antibodies, Monoclonal, Humanized, Dermatitis, Atopic, Refractory, dupilumab, Severe atopic dermatitis, medicine, Type 1 Neurofibromatosis, Humans, neurofibromatosis, therapy, Neurofibromatosis, Case Letter, business.industry, Treatment options, Antibodies, Monoclonal, Atopic dermatitis, medicine.disease, Dupilumab, Treatment Outcome, RL1-803, Female, Interleukin-4, business

وصف الملف: text/html

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::816201abaf7a6cc3468cd4541850c71bTest
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962021000500638&lng=en&tlng=enTest

المؤلفون: Giancarlo Martini, Silvano Baratta, Andrea Marona, Mauro Zampolini, Claudia De Carlo, Antonella Cometa, Francesco Corea, Diego Carducci, Silvia Ciotti, Laura Filippetti

المصدر: European Journal of Case Reports in Internal Medicine (2021)
Eur J Case Rep Intern Med

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Central nervous system, lcsh:Medicine, Disease, multiple sclerosis, 03 medical and health sciences, 0302 clinical medicine, Natalizumab, natalizumab, neurofibromatosis 1, Internal Medicine, Medicine, case report, Neurofibromatosis, Neurorehabilitation, neurorehabilitation, business.industry, Multiple sclerosis, lcsh:R, Articles, medicine.disease, Dermatology, nervous system diseases, 030104 developmental biology, medicine.anatomical_structure, Tumour development, Relapsing remitting, business, 030217 neurology & neurosurgery, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6b3a161adbad5ac43202d2552576f01Test
https://www.ejcrim.com/index.php/EJCRIM/article/view/2190Test

المؤلفون: Daniela Zuccarello, Eva Trevisson, Gioia Bottesi, Maurizio Clementi, Andrea Spoto, Giulio Vidotto, Matteo Cassina

مصطلحات موضوعية: Adult, Coping (psychology), Neurofibromatosis 1, Adolescent, Dysfunctional family, Dermatology, Disease, Anxiety, Psychological Distress, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Quality of life, Surveys and Questionnaires, Adaptation, Psychological, Humans, Medicine, Neurofibromatosis, Depression, business.industry, medicine.disease, humanities, Distress, Quality of Life, medicine.symptom, business, Psychosocial, Clinical psychology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b148a130ce3e2ea66faf31e459f948deTest
https://hdl.handle.net/11577/3316426Test

المؤلفون: Michael Kinori, Janice Lasky Zeid, Nickisa Hodgson

المصدر: Survey of Ophthalmology. 63:518-533

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Neurofibromatosis 1, Eye Diseases, genetic structures, Antineoplastic Agents, Ophthalmologic Surgical Procedures, Disease, 03 medical and health sciences, 0302 clinical medicine, Anterior Eye Segment, Orbital Diseases, medicine, Humans, Neurofibromatosis, neoplasms, Genetic testing, Radiotherapy, medicine.diagnostic_test, business.industry, medicine.disease, Dermatology, eye diseases, nervous system diseases, Ophthalmology, Clinical diagnosis, 030221 ophthalmology & optometry, Inherited disease, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfbd3be9de76046c1b053ad36cb7fb67Test
https://doi.org/10.1016/j.survophthal.2017.10.007Test

المؤلفون: Javier Herrero-Hermida, Ángeles Flórez, Ana Batalla, José Freire-Bruno, Álvaro Iglesias-Puzas

المصدر: Pediatric Dermatology. 35:e268-e271

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Neurofibromatosis 1, Adolescent, Genotype, Dermatology, Disease, 030105 genetics & heredity, Genotype phenotype, Correlation, 03 medical and health sciences, Humans, Medicine, Neurofibroma, Type 1 Neurofibromatosis, Mild form, Genotype-Phenotype Correlations, Genetic Association Studies, Genetics, Neurofibromin 1, business.industry, medicine.disease, Phenotype, Mutation, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd6de95c02dd88b72494d5ab989c6a5bTest
https://doi.org/10.1111/pde.13578Test

المؤلفون: Kenjiro Kosaki, Osamu Yamamoto, Yuichi Yoshida, Yuko Ehara

المصدر: Ehara Yuko, Yamamoto Osamu, Kosaki Kenjiro, et al. Clinical severity in Japanese patients with neurofibromatosis 1 based on DNB classification. JOURNAL OF DERMATOLOGY. 2017. 44(11). 1262-1267. doi:10.1111/1346-8138.13902

مصطلحات موضوعية: Adult, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Dermatology, Disease, Severity of Illness Index, 030207 dermatology & venereal diseases, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Quality of life, Japan, Epidemiology, neurofibromatosis 1, medicine, Humans, DNB classification, Clinical severity, Neurofibromatosis, Stage (cooking), Child, neoplasms, Aged, Retrospective Studies, Aged, 80 and over, business.industry, Infant, Retrospective cohort study, General Medicine, Middle Aged, medicine.disease, University hospital, diffuse plexiform neurofibromas, Surgery, nervous system diseases, quality of life, Child, Preschool, clinical severity, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ff8a70c98d70fa76150b919afd72e50Test
http://id.nii.ac.jp/1824/00007245Test/

المؤلفون: Gregorio Serra, Federico Zara, Giovanni Corsello, Luca Lagalla, Maria Piccione, Clara Giambrone, Ettore Piro, Vincenzo Antona

المساهمون: Giovanni Corsello, Vincenzo Antona, Gregorio Serra, Federico Zara, Clara Giambrone, Luca Lagalla, Maria Piccione, Ettore Piro

المصدر: Italian Journal of Pediatrics
Italian Journal of Pediatrics, Vol 44, Iss 1, Pp 1-7 (2018)

مصطلحات موضوعية: 0301 basic medicine, Genotype-phenotype correlation, New mutation, NF1 gene, NF1 microdeletion syndrome, Adolescent, Adult, Age Factors, Child, Child, Preschool, Cohort Studies, DNA Mutational Analysis, Female, Genes, Neurofibromatosis 1, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Italy, Male, Middle Aged, Neurofibromatosis 1, Prevalence, Prognosis, Retrospective Studies, Risk Assessment, Sex Factors, Young Adult, Mutation, Missense, Disease, 0302 clinical medicine, Genotype, Medicine, Young adult, lcsh:RJ1-570, Cohort, Cohort study, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, 03 medical and health sciences, Neurofibromatosis, Preschool, business.industry, Research, Retrospective cohort study, lcsh:Pediatrics, medicine.disease, Dermatology, 030104 developmental biology, Genes, Pediatrics, Perinatology and Child Health, Mutation, Missense, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4090aac99e2ecd85815a5681e4f8a51Test
https://pubmed.ncbi.nlm.nih.gov/29618358Test

المؤلفون: Alanna Santoro Vinhas, Natália Battisti Serafini, Marcio Barbosa Godinho, Cássio Battisti Serafini

المصدر: Anais Brasileiros de Dermatologia
Anais Brasileiros de Dermatologia, Vol 92, Iss 6, Pp 870-873 (2017)

مصطلحات موضوعية: medicine.medical_specialty, Neurofibromatosis 1, Case Report, Dermatology, Disease, Autosomal dominant transmission, Magnetic resonance angiography, Moyamoya disease, 03 medical and health sciences, 0302 clinical medicine, medicine, 030212 general & internal medicine, Neurofibromatosis, medicine.diagnostic_test, business.industry, Multiple Neurofibromas, General Medicine, medicine.disease, Clinical diagnosis, Pediatric patient, Late diagnosis, RL1-803, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84c140d9e6a01a8a075114f5af87acd2Test
http://europepmc.org/articles/PMC5786411Test