المؤلفون: Ramos Neto, Manoel Antônio^1,2,3, Fares Lemos, Adnan Abouzeid⁴, Berwanger, Camila⁴, Cardoso Procópio, Cecília⁴, Araújo Pinto, Giovanna⁴, Trevisol Faleiros Silva, Mateus⁴, Menezes Dorileo Carvalho, Matheus⁴, Puerari Junior, Milton⁴, Altoe Macorin, Rafaela⁴, de Sousa Carvalho, Rosivânia⁴, Coelho Silva, Vitoria⁴, Junior, Vitorio Romanini⁴

المصدر: Connection Line. 2020, Issue 22, p153-157. 5p.

مصطلحات موضوعية: *SCHWANNOMAS, *NEUROFIBROMATOSIS 1, *PERIPHERAL nervous system, *CRANIAL nerves, *NEURONS

المؤلفون: Kehrer-Sawatzki, Hildegard, Kluwe, Lan, Salamon, Johannes, Well, Lennart, Farschtschi, Said, Rosenbaum, Thorsten, Mautner, Victor-Felix

مصطلحات موضوعية: Neurofibromatosis type 1, NF1 microdeletion, Cognitive impairment, Attention deficit hyperactivity disorder (ADHD), DDC 610 / Medicine & health, Neurofibromatosis 1, Neurofibroma, Autism spectrum disorder, Attention deficit disorder with hyperactivity, Cognitive dysfunction, Neurofibromatose, Autismus, Aufmerksamkeitsdefizit-Syndrom, Kognitive Störung

وصف الملف: application/pdf

العلاقة: https://static-content.springer.com/esm/art%3A10.1007%2Fs00381-020-04717-0/MediaObjects/381_2020_4717_MOESM1_ESM.pptxTest; https://static-content.springer.com/esm/art%3A10.1007%2Fs00381-020-04717-0/MediaObjects/381_2020_4717_MOESM2_ESM.docxTest; http://dx.doi.org/10.18725/OPARU-49579Test; https://oparu.uni-ulm.de/xmlui/123456789/49655Test; http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-49655-7Test

الإتاحة: https://doi.org/10.18725/OPARU-49579Test
https://oparu.uni-ulm.de/xmlui/123456789/49655Test
http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-49655-7Test

المؤلفون: Kehrer-Sawatzki, Hildegard, Wahlländer, Ute, Cooper, David N., Mautner, Victor-Felix

المساهمون: Pasmant, Eric

مصطلحات موضوعية: neurofibromatosis type 1, NF1, NF1 microdeletions, genotype/phenotype correlations, SUZ12, CRLF3, genodermatosis, DDC 570 / Life sciences, DDC 610 / Medicine & health, Neurofibromatoses, Genetics, Neurofibromatosis 1, Genes, Neurofibromatose, Genetik, Genmutation, Genodermatose

وصف الملف: application/pdf

العلاقة: https://www.mdpi.com/article/10.3390/genes12101639/s1Test; http://dx.doi.org/10.18725/OPARU-50126Test; https://oparu.uni-ulm.de/xmlui/123456789/50202Test; http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-50202-7Test

الإتاحة: https://doi.org/10.18725/OPARU-50126Test
https://oparu.uni-ulm.de/xmlui/123456789/50202Test
http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-50202-7Test

المؤلفون: Kluwe, Lan, Friedrich, Reinhard E., Farschtschi, Said C., Hagel, Christian, Kehrer‐Sawatzki, Hildegard, Mautner, Victor‐Felix

مصطلحات موضوعية: NF1 deletion, DDC 570 / Life sciences, Lipoma, Neurofibromatosis 1, Pheochromocytoma, Homologous recombination, Mosaicism, Lipom, Neurofibromatose, Phäochromozytom

وصف الملف: application/pdf

العلاقة: https://databases.lovd.nl/shared/variants/0000602980Test; http://dx.doi.org/10.18725/OPARU-42172Test; https://oparu.uni-ulm.de/xmlui/123456789/42248Test; http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-42248Test-1

الإتاحة: https://doi.org/10.18725/OPARU-42172Test
https://oparu.uni-ulm.de/xmlui/123456789/42248Test
http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-42248Test-1

المؤلفون: Marzo Ramírez, Talia, Guerrero Chávez, Lilian, Lacosta Zamora, Josué

المساهمون: Servicio de Neurología

المصدر: Revista Información Científica; Vol. 98, No. 3 (2019): mayo-junio; 395-404 ; 1028-9933

مصطلحات موضوعية: Neurology, neurocutaneous syndrome, neurofibromatosis, hereditary disease, NEUROFIBROMATOSIS 1/ epidemiology/ etiology/ genetics, KNOWLEDGE, HEALTH ATTITUDES, PRACTICE, neurología, síndrome neurocutáneo, enfermedad hereditaria, NEUROFIBROMATOSIS 1/ epidemiología/ etiología/ genética, CONOCIMIENTOS, ACTITUDES Y PRÁCTICA EN SALUD, síndrome neurocutânea, neurofibromatose, doença hereditária

وصف الملف: application/pdf; application/xml

العلاقة: https://revinfcientifica.sld.cu/index.php/ric/article/view/2250/4034Test; https://revinfcientifica.sld.cu/index.php/ric/article/view/2250/4089Test; Raymond Delacy A, Maurice V. Principles of neurology. 9a ed. New York: McGraw-Hill; 2009.; Flores Delgado E, Flores Miranda E. Neurofibroma del mesenterio en un paciente sin enfermedad de Von Recklinghausen. Rev Cubana Cir [en línea]. 2016 Dic [citado 19 Mar 2019]; 55(4): 325-333. Disponible en: http://scielo.sld.cu/pdf/cir/v55n4/cir07416.pdfTest; Reynods RM, Brouning GGP, Nawroz I, Campbell IW. Von Recklinghausen’s neurofibromatosis type 1. Lancet [en línea]. 2003 [citado 19 Mar 2019]; 361(9368):1552-4. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/12737880Test; Miraglia E, Moramarco A, Bianchini D, Iacovino C, Calvieri S, Giustini S. Retinitis pigmentosa: an unusual ocular manifestation in a patient with neurofibromatosis type 1. G Ital Dermatol Venereol [en línea]. 2017 Oct [citado 19 Mar 2019]; 152(5):543-54. DOI:10.23736/S0392-0488.16.05360-8; Ehara Y, Yamamoto O, Kosaki K, Yoshida Y. Natural course and characteristics of cutaneous neurofibromas in neurofibromatosis 1. J Dermatol [en línea]. 2018 Jan [citado 19 Mar 2019]; 45(1):53-57. DOI:10.1111/1346-8138.14025; Tadini G, Brena M. Anemic nevus is a new diagnostic criterion for neurofibromatosis type 1. G Ital Dermatol Venereol [en línea]. 2017 Oct [citado 19 Mar 2019]; 152(5):548-549. DOI:10.23736/S0392-0488.16.05379-7; Remillieux M, Durand C, Sartelet H, Piolat C, Bourgeois E, Pommier P, Hameury F, Dieterich K, Vidaud D, Perret C. Type 1 neurofibromatosis: Onset of two tumors before the age of 5 years. Arch Ped [en línea]. 2017 Oct [citado 19 Mar 2019]; 24(10):986-990. DOI:10.1016/j.arcped.2017.08.009; Madeira Luciana G, Passos Renata LF, Souza Juliana F de, Rezende Nilton A, Rodrigues Luiz OC. Autonomic thermoregulatory dysfunction in neurofibromatosis type 1. Arq Neuro-Psiquiatr [en línea]. 2016 Oct [citado 19 Mar 2019]; 74(10):796-802. DOI:10.1590/0004-282X20160122; Abaloun Y, Ajhoun Y. Lisch nodule in neurofibromatosis type 1. Pan Afr Med J [en línea]. 2017 [citado 19 Mar 2019]; 27:218. DOI:10.11604/pamj.2017.27.218.11517; Gámez Rodríguez O, Correa Sánchez MG, Rodríguez Montalván M, Miyares Duvergel AG, Romero Calzado D. Neurofibromatosis de tipo 1 en un adulto joven. MEDISAN [en línea]. 2014 Abr [citado 19 Mar 2019]; 18(4):582-587. Disponible en: https://www.redalyc.org/pdf/3684/368445004018.pdfTest; Karnes P. Neurofibromatosis: a common neurocutaneous disorder. Mayo Clin Proc [en línea]. 1998 [citado 19 Mar 2019]; 73(11):1071-1076. DOI:10.4065/73.11.1071; Shepherd CW, Gomez MR, Lie JT, Crowson CS. Causes of death in pacientes with tuberous Sclerosis. Mayo Clin Proc [en línea]. 1991 [citado 19 Mar 2019]; 66(8):792-6. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/1861550Test; National Institutes of Health Consensus Development Conference. Neurofibromatosis: Conference Statement. Arch Neurol [en línea]. 1988 [citado 22 Mar 2019]; 45(5):575-578. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/3128965Test; https://revinfcientifica.sld.cu/index.php/ric/article/view/2250Test

الإتاحة: https://doi.org/10.23736/S0392-0488.16.05360-8Test
https://doi.org/10.1111/1346-8138.14025Test
https://doi.org/10.23736/S0392-0488.16.05379-7Test
https://doi.org/10.1016/j.arcped.2017.08.009Test
https://doi.org/10.1590/0004-282X20160122Test
https://doi.org/10.11604/pamj.2017.27.218.11517Test
https://doi.org/10.4065/73.11.1071Test
https://revinfcientifica.sld.cu/index.php/ric/article/view/2250Test

المؤلفون: Marco Túlio Chater Viegas, Valquise Yumi Murata, Fabiana Richa Valim, Thiago Pardo Pizarro

المصدر: Revista Brasileira de Oftalmologia, Vol 66, Iss 6, Pp 406-410 (2007)

مصطلحات موضوعية: Glioma do nervo óptico, Neurofibromatose, Acuidade visual, Relato de casos, Optic nerve glioma, Neurofibromatosis 1, Visual acuity, Case reports, Ophthalmology, RE1-994

وصف الملف: electronic resource

العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0034-72802007000600009Test; https://doaj.org/toc/0034-7280Test

الوصول الحر: https://doaj.org/article/2f932eff504a44978e65ebdac4d4befbTest

المؤلفون: Kluwe, Lan, Friedrich, Reinhard E., Farschtschi, Said C., Hagel, Christian, Kehrer���Sawatzki, Hildegard, Mautner, Victor���Felix

مصطلحات موضوعية: DDC 570 / Life sciences, Neurofibromatosis 1, Mosaicism, Phäochromozytom, ddc:570, Ph��ochromozytom, Lipom, Neurofibromatose, NF1 deletion, Lipoma, Pheochromocytoma, Homologous recombination

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8d27e17860582ec94158e21aec15ac1Test

المؤلفون: Hillmer, Morten

المساهمون: Kehrer-Sawatzki, Hildegard, Lewerenz, Jan

مصطلحات موضوعية: Recombination, Genetic, Deletion, Nicht allelische homologe Rekombination, Neurofibromatose Typ-1, Neurofibromatosis 1, Genetics, Neurofibromatose, Homologe Rekombination, ddc:610, DDC 610 / Medicine & health, Deletion

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20dfde708707f85271b5b916846d0a7aTest

المؤلفون: Lan Kluwe, Hildegard Kehrer-Sawatzki, Said Farschtschi, Thorsten Rosenbaum, Johannes Salamon, Lennart Well, Victor-Felix Mautner

المصدر: Child's Nervous System

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Neurofibromatosis 1, Adolescent, Population, Autismus, Cognitive dysfunction, medicine, Humans, Attention deficit hyperactivity disorder, Neurofibroma, Whole Body Imaging, ddc:610, Global developmental delay, Neurofibromatosis, Autism spectrum disorder, Child, education, neoplasms, Retrospective Studies, education.field_of_study, NF1 microdeletion, Intelligence quotient, business.industry, Neurofibromatose, Attention deficit hyperactivity disorder (ADHD), General Medicine, medicine.disease, Magnetic Resonance Imaging, Kognitive Störung, eye diseases, nervous system diseases, Attention deficit disorder with hyperactivity, Aufmerksamkeitsdefizit-Syndrom, Cognitive impairment, Annual Issue Paper, Pediatrics, Perinatology and Child Health, Neurology (clinical), Neurosurgery, business, DDC 610 / Medicine & health, Neurofibromatosis type 1

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d952960375279ab265837b72edbf7e6Test

المؤلفون: Marzo Ramírez, Talia, Guerrero Chávez, Lilian, Lacosta Zamora, Josué

المصدر: Revista de Información Científica, ISSN 1028-9933, Vol. 98, Nº. 3 (mayo-junio), 2019, pags. 395-404

مصطلحات موضوعية: neurocutaneous syndrome, neurofibromatosis, hereditary disease, neurología, síndrome neurocutáneo, enfermedad hereditaria, NEUROFIBROMATOSIS 1, epidemiología, etiología, genética, CONOCIMIENTOS, ACTITUDES Y PRÁCTICA EN SALUD, síndrome neurocutânea, neurofibromatose, doença hereditária

وصف الملف: application/pdf

العلاقة: https://dialnet.unirioja.es/servlet/oaiart?codigo=7154366Test; (Revista) ISSN 1028-9933

الإتاحة: https://dialnet.unirioja.es/servlet/oaiart?codigo=7154366Test