Academic literature on the topic 'Neurofibromatosis 1 And 2'

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Journal articles on the topic "Neurofibromatosis 1 And 2"

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Batista, Pollyanna Barros, Eny Maria Goloni Bertollo, Danielle de Souza Costa, et al. "Neurofibromatosis: part 2 – clinical management." Arquivos de Neuro-Psiquiatria 73, no. 6 (2015): 531–43. http://dx.doi.org/10.1590/0004-282x20150042.

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Part 1 of this guideline addressed the differential diagnosis of the neurofibromatoses (NF): neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH). NF shares some features such as the genetic origin of the neural tumors and cutaneous manifestations, and affects nearly 80 thousand Brazilians. Increasing scientific knowledge on NF has allowed better clinical management and reduced rate of complications and morbidity, resulting in higher quality of life for NF patients. Most medical doctors are able to perform NF diagnosis, but the wide range of clinical manifes
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Rodrigues, Luiz Oswaldo Carneiro, Pollyanna Barros Batista, Eny Maria Goloni-Bertollo, et al. "Neurofibromatoses: part 1 ? diagnosis and differential diagnosis." Arquivos de Neuro-Psiquiatria 72, no. 3 (2014): 241–50. http://dx.doi.org/10.1590/0004-282x20130241.

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Neurofibromatoses (NF) are a group of genetic multiple tumor growing predisposition diseases: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH), which have in common the neural origin of tumors and cutaneous signs. They affect nearly 80 thousand of Brazilians. In recent years, the increased scientific knowledge on NF has allowed better clinical management and reduced complication morbidity, resulting in higher quality of life for NF patients. In most cases, neurology, psychiatry, dermatology, clinical geneticists, oncology and internal medicine specialist
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Mulvihill, John J. "Neurofibromatosis 1 (Recklinghausen Disease) and Neurofibromatosis 2 (Bilateral Acoustic Neurofibromatosis)." Annals of Internal Medicine 113, no. 1 (1990): 39. http://dx.doi.org/10.7326/0003-4819-113-1-39.

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Pollack, Ian F., and Jonn J. Mulvihill. "Neurofibromatosis 1 and 2." Brain Pathology 7, no. 2 (1997): 823–36. http://dx.doi.org/10.1111/j.1750-3639.1997.tb01067.x.

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Sanchez, Lauren D., Ashley Bui, and Laura J. Klesse. "Targeted Therapies for the Neurofibromatoses." Cancers 13, no. 23 (2021): 6032. http://dx.doi.org/10.3390/cancers13236032.

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Over the past several years, management of the tumors associated with the neurofibromatoses has been recognized to often require approaches that are distinct from their spontaneous counterparts. Focus has shifted to therapy aimed at minimizing symptoms given the risks of persistent, multiple tumors and new tumor growth. In this review, we will highlight the translation of preclinical data to therapeutic trials for patients with neurofibromatosis, particularly neurofibromatosis type 1 and neurofibromatosis type 2. Successful inhibition of MEK for patients with neurofibromatosis type 1 and progr
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Reynolds, RM, GGP Browning, I. Nawroz, and IW Campbell. "Von Recklinghausen's neurofibromatosis: neurofibromatosis type 1." Lancet 361, no. 9368 (2003): 1552–54. http://dx.doi.org/10.1016/s0140-6736(03)13166-2.

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Yehouenou Tessi, Romeo Thierry, Chaimae Lahlou, Soufiane Rostoum, Siham El Haddad, Nazik Allali, and Latifa Chat. "A supraclavicular mass with skin macules «café-au-lait»: Neurofibromatosis 1." International Journal of Case Reports and Images 14, no. 2 (2023): 57–62. http://dx.doi.org/10.5348/101411z01rt2023cr.

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Neurofibromatosis type 1 is a genetic disorder representing one of the most common forms of Von Recklinghausen’s disease. The neurofibromatoses are a group of heterogeneous, yet distinct, autosomal-dominant inherited neurogenetic disorders that include neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis. It is characterized by a large clinical polymorphism with the development of «café-au-lait» skin spots, benign tumors affecting the skin, peripheral nerves, optic pathway, and can involve the brain, bones, and vessels. We report the case of an 8-year-old child w
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Flexon, Phillip B., Joseph B. Nadol, William W. Montgomery, Harold F. Schuknecht, and Robert L. Martuza. "Bilateral Acoustic Neurofibromatosis (Neurofibromatosis 2): A Disorder Distinct from Von Recklinghausen's Neurofibromatosis (Neurofibromatosis 1)." Annals of Otology, Rhinology & Laryngology 100, no. 10 (1991): 830–34. http://dx.doi.org/10.1177/000348949110001008.

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Borofsky, S., and L. M. Levy. "Neurofibromatosis: Types 1 and 2." American Journal of Neuroradiology 34, no. 12 (2013): 2250–51. http://dx.doi.org/10.3174/ajnr.a3534.

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Yohay, Kaleb. "Neurofibromatosis Types 1 and 2." Neurologist 12, no. 2 (2006): 86–93. http://dx.doi.org/10.1097/01.nrl.0000195830.22432.a5.

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Dissertations / Theses on the topic "Neurofibromatosis 1 And 2"

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Ardern-Holmes, Simone. "Neurofibromatosis Type 1 and Type 2 Associated Tumours: Current trends in Diagnosis and Management with a focus on Novel Medical Therapies." Thesis, The University of Sydney, 2017. http://hdl.handle.net/2123/17936.

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Neurofibromatosis type 1 (NF1) and Neurofibromatosis type 2 (NF2) are distinct single gene disorders, which share a predisposition to formation of benign nervous system tumours due to loss of tumour suppressor function. Since identification of the genes encoding NF1 and NF2 in the early 1990s, significant progress has been made in understanding the biological processes and molecular pathways underlying tumour formation. As a result, identifying safe and effective medical approaches to treating NF1 and NF2-associated tumours has become a focus of clinical research and patient care in recent ye
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Mantripragada, Kiran K. "Microarray-Based Comparative Genomic Hybridization in Neurofibromatoses and DiGeorge Syndrome." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2005. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-5743.

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Shilyansky, Carrie. "Increased inhibition within frontal corticostriatal networks underlies working memory impairments in a mouse model of neurofibromatosis type 1." Diss., Restricted to subscribing institutions, 2009. http://proquest.umi.com/pqdweb?did=1905652701&sid=1&Fmt=2&clientId=48051&RQT=309&VName=PQD.

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Brault, Estelle. "Etude structurale et fonctionnelle de la schwannomine, produit du gene suppresseur de tumeur impliquee dans la neurofibromatose de type 2." Paris 5, 2001. http://www.theses.fr/2001PA05N081.

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Roehl, Angelika [Verfasser]. "Analysen zum Entstehungsmechanismus von Typ-2 NF1 Deletionen bei Patienten mit Neurofibromatose Typ 1 / Angelika Roehl." Ulm : Universität Ulm. Medizinische Fakultät, 2012. http://d-nb.info/1027762263/34.

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Fagelson, Marc A. "Tinnitus in Neurofibromatosis 2." Digital Commons @ East Tennessee State University, 2013. https://dc.etsu.edu/etsu-works/1649.

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Ferner, Rosalie Elaine. "Intellect in neurofibromatosis 1." Thesis, University of Newcastle Upon Tyne, 1994. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.283079.

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Goucha, Tomás Barato. "Genetic Diagnosis of Neurofibromatosis Type 2." Master's thesis, Instituto de Ciências Biomédicas Abel Salazar, 2009. http://hdl.handle.net/10216/53388.

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Antinheimo, Juha-Pekka. "Meningiomas and schwannomas in neurofibromatosis 2." Helsinki : University of Helsinki, 1999. http://ethesis.helsinki.fi/julkaisut/laa/haart/vk/antinheimo/.

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Goucha, Tomás Barato. "Genetic Diagnosis of Neurofibromatosis Type 2." Dissertação, Instituto de Ciências Biomédicas Abel Salazar, 2009. http://hdl.handle.net/10216/53388.

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Books on the topic "Neurofibromatosis 1 And 2"

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1943-, Mulvihill John J., Parry Dilys M, and National Institutes of Health (U.S.), eds. Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (Bilateral acoustic neurofibromatosis): An update. National Institutes of Health, 1990.

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Tadini, Gianluca, Eric Legius, and Hilde Brems, eds. Multidisciplinary Approach to Neurofibromatosis Type 1. Springer International Publishing, 2020. http://dx.doi.org/10.1007/978-3-319-92450-2.

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Martuza, Robert L. Neurofibromatosis 2 (bilateral acoustic neurofibromatosis). National Institute of Neurological and Communicative Disorders and Stroke, 1988.

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Upadhyaya, Meena, and David N. Cooper, eds. Neurofibromatosis Type 1. Springer Berlin Heidelberg, 2012. http://dx.doi.org/10.1007/978-3-642-32864-0.

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North, Kathryn. Neurofibromatosis type 1 in childhood. Mac Keith Press, for the International Child Neurology Association, 1997.

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Watson, Carolyn Joyce. Molecular genetic investigations in Type 2 neurofibromatosis. University of Manchester, 1996.

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Dr, Cooper David N., and Upadhyaya M, eds. Neurofibromatosis type 1: From genotype to phenotype. Bios Scientific, 1998.

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Jeske, Nelissen, ed. 2+ 1. De Fontein, 2010.

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Cai, Hongzhong. 1/2 wang zi: 1/2 prince. Dong li chu ban she you xian gong si, 2014.

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Cai, Hongzhong. 1/2 wang zi: 1/2 prince. Dong li chu ban she you xian gong si, 2009.

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Book chapters on the topic "Neurofibromatosis 1 And 2"

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Tihan, Tarik. "Neurofibromatosis 2." In Atlas of Pediatric Brain Tumors. Springer New York, 2009. http://dx.doi.org/10.1007/978-1-4419-1062-2_25.

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Chen, Harold. "Neurofibromatosis 2." In Atlas of Genetic Diagnosis and Counseling. Springer New York, 2017. http://dx.doi.org/10.1007/978-1-4939-2401-1_179.

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Peltonen, Sirkku, Vesa Aaltonen, and Juha Peltonen. "Neurofibromatosis-1." In Encyclopedia of Cancer. Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/978-3-642-27841-9_4036-2.

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Chen, Harold. "Neurofibromatosis 1." In Atlas of Genetic Diagnosis and Counseling. Springer New York, 2016. http://dx.doi.org/10.1007/978-1-4614-6430-3_178-2.

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Gorelyshev, Sergey, Endzhe Valiakhmetova, and Igor Pronin. "Neurofibromatosis 2." In Textbook of Pediatric Neurosurgery. Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-31512-6_151-1.

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Chen, Harold. "Neurofibromatosis 2." In Atlas of Genetic Diagnosis and Counseling. Springer New York, 2015. http://dx.doi.org/10.1007/978-1-4614-6430-3_179-2.

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Armstrong, Carol L. "Neurofibromatosis Type 1 (NF1)." In Encyclopedia of Clinical Neuropsychology. Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-56782-2_133-2.

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Canas, Angela, and Natalie Escalante. "Neurofibromatosis Type 1 and Neurofibromatosis Type 2-Related Schwannomatosis." In Understanding and Managing Neurodevelopmental Disorders in Children and Adolescents. Routledge, 2025. https://doi.org/10.4324/9781032703923-24.

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Huson, Susan M. "Neurofibromatosis (NF) types 1 and 2." In Genetic Predisposition to Cancer. Springer US, 1996. http://dx.doi.org/10.1007/978-1-4899-4501-3_5.

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Eoli, Marica. "Neurofibromatosis Type 1 and Type 2." In Prognosis of Neurological Diseases. Springer Milan, 2015. http://dx.doi.org/10.1007/978-88-470-5755-5_26.

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Conference papers on the topic "Neurofibromatosis 1 And 2"

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Bagnoli, D. L., J. W. Leedy, and T. Wada. "Embrittlement of 1 Cr-1/2 Mo and 1 1/4 Cr-1/2 Mo Alloys after Long Time Service." In CORROSION 1988. NACE International, 1988. https://doi.org/10.5006/c1988-88160.

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Abstract During the past few years there has been increasing evidence of material changes occurring in aging Refinery and Petrochemical equipment. An example is the embrittlement of low chromium-molybdenum steels. This embrittlement can be manifested either by loss of creep rupture strength and ductility in heat affected zones (HAZ) of welds or loss of base metal, room temperature CVN toughness. Recently, there have been cases where one or both types of materials degradation have been reported. A case is cited here where both forms of degradation were found. It was determined that initial serv
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Leino, Viljami, Alexei Bazavov, Nora Brambilla, et al. "Strong coupling in (2+1+1)-flavor QCD." In The 41st International Symposium on Lattice Field Theory. Sissa Medialab, 2025. https://doi.org/10.22323/1.466.0298.

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Coyne, Geraldine O'Sullivan, Andrea Gross, Eva Dombi, et al. "Abstract PR07: Phase II Trial of the MEK 1/2 inhibitor selumetinib (AZD6344, ARRY-142886 hydrogen sulphate) in adults with neurofibromatosis type 1 (NF1) and inoperable plexiform neurofibromas (PN)." In Abstracts: AACR-NCI-EORTC International Conference on Molecular Targets and Cancer Therapeutics; October 26-30, 2019; Boston, MA. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1535-7163.targ-19-pr07.

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Caesario, D., J. E. Casino, and S. Jesmajian. "Atypical Pulmonary Manifestations of Neurofibromatosis Type 1." In American Thoracic Society 2022 International Conference, May 13-18, 2022 - San Francisco, CA. American Thoracic Society, 2022. http://dx.doi.org/10.1164/ajrccm-conference.2022.205.1_meetingabstracts.a3382.

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Soldano, Lucia, Carmela De Meco, Irene Rutigliano, et al. "P295 Optical pathway glioma and neurofibromatosis type 1." In 8th Europaediatrics Congress jointly held with, The 13th National Congress of Romanian Pediatrics Society, 7–10 June 2017, Palace of Parliament, Romania, Paediatrics building bridges across Europe. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2017. http://dx.doi.org/10.1136/archdischild-2017-313273.383.

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Ellberg, C., W. C. Mcguire, and J. Joshua. "A Case of Spontaneous Pneumothorax in Neurofibromatosis-1." In American Thoracic Society 2024 International Conference, May 17-22, 2024 - San Diego, CA. American Thoracic Society, 2024. http://dx.doi.org/10.1164/ajrccm-conference.2024.209.1_meetingabstracts.a5822.

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Fernández, Paloma, Pablo Lara, and María Barberá. "Estudio de Neurofibromatosis tipo 1 en paciente adulto." In 30 Congreso Nacional de Medicina General y de Familia. Grupo Pacífico, 2024. http://dx.doi.org/10.48158/semg24-365.

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Plitt, Aaron R., James R. Dornhoffer, Maria Peris-Celda, et al. "Multidisciplinary Neurofibromatosis Type 2 Clinic: The Mayo Clinic Experience." In 32nd Annual Meeting North American Skull Base Society. Georg Thieme Verlag KG, 2023. http://dx.doi.org/10.1055/s-0043-1762130.

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Molis, Amy, Bruce Greenberg, and Andres Sosa. "Spontaneous Hemothorax In A Patient With Neurofibromatosis Type 1." In American Thoracic Society 2012 International Conference, May 18-23, 2012 • San Francisco, California. American Thoracic Society, 2012. http://dx.doi.org/10.1164/ajrccm-conference.2012.185.1_meetingabstracts.a5959.

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Brar, H., M. A. Saad, A. Ng, and R. M. Abdallah. "Pulmonary Manifestations of a Rare Disease, Neurofibromatosis Type-1." In American Thoracic Society 2023 International Conference, May 19-24, 2023 - Washington, DC. American Thoracic Society, 2023. http://dx.doi.org/10.1164/ajrccm-conference.2023.207.1_meetingabstracts.a5795.

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Reports on the topic "Neurofibromatosis 1 And 2"

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Viskochil, David. A Phase 2 Trial on the Effect of Low-Dose versus High-Dose Vitamin D Supplementation on Bone Mass in Adults with Neurofibromatosis 1 (NF1). Defense Technical Information Center, 2014. http://dx.doi.org/10.21236/ada612069.

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Slattery, William H., and III. Neurofibromatosis Type 2 (NF2) Natural History Consortium. Defense Technical Information Center, 2005. http://dx.doi.org/10.21236/ada434786.

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Slattery, William H., and III. Neurofibromatosis Type 2 (NF2) Natural History Consortium. Defense Technical Information Center, 2003. http://dx.doi.org/10.21236/ada414115.

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Slattery, William. Neurofibromatosis Type 2 (NF2) Natural History Consortium. Defense Technical Information Center, 2004. http://dx.doi.org/10.21236/ada425862.

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Bernards, Andre. Studies of Neurofibromatosis-1 Modifier Genes. Defense Technical Information Center, 2005. http://dx.doi.org/10.21236/ada437252.

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Kurtz, Andreas. Mitochondria Polymorphism in Neurofibromatosis Type 1. Defense Technical Information Center, 2001. http://dx.doi.org/10.21236/ada400622.

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Bernards, Andre. Studies of Neurofibromatosis-1 Modifier Genes. Defense Technical Information Center, 2004. http://dx.doi.org/10.21236/ada428418.

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Kurtz, Andreas. Mitochondria Polymorphism in Neurofibromatosis Type 1. Defense Technical Information Center, 2002. http://dx.doi.org/10.21236/ada411354.

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Kurtz, Andreas C. Mitochondria Polymorphism in Neurofibromatosis Type 1. Defense Technical Information Center, 2003. http://dx.doi.org/10.21236/ada420949.

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Sánchez Legaza, Elena. Neurofibromatosis tipo 2 manifestada como schwannoma vestibular bilateral. Siicsalud.com, 2017. http://dx.doi.org/10.21840/siic/154613.

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