يعرض 1 - 20 نتائج من 87 نتيجة بحث عن '"Paredes, Angela"', وقت الاستعلام: 0.53s تنقيح النتائج
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    المؤلفون: García de Paredes, Ángela

    المصدر: Palimpsesto; Núm. 21 (2020): Nuevas Razones

    وصف الملف: text/html

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    وصف الملف: application/pdf; text/html; application/epub+zip; text/xml; audio/mpeg

    Relation: Shbarou R, Mikati MA. The Expanding Clinical Spectrum of Genetic Pediatric Epileptic Encephalopathies. Semin Pediatr Neurol. 2016;23(2):134-142. doi:10.1016/j.spen.2016.06.002; Milh M, Riccardi F, Denis J. Genetics of neonatal onset epilepsies: An overview. Rev Neurol (Paris). May 2019. doi:10.1016/j. neurol.2019.01.396; Khaikin Y, Mercimek-Mahmutoglu S. STXBP1 Encephalopathy with Epilepsy. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993. http://www.ncbi.nlm.nih.gov/books/NBK396561/. Accessed June 20, 2019.; Pearl PL. Epilepsy Syndromes in Childhood. Contin Minneap Minn. 2018;24(1, Child Neurology):186-209. doi:10.1212/ CON.0000000000000568; Hussain S, Davanger S. The discovery of the soluble N-ethylmaleimide-sensitive factor attachment protein receptor complexandthemolecularregulationofsynapticvesicletransmitter release: the 2010 Kavli Prize in neuroscience. Neuroscience. 2011;190:12-20. doi:10.1016/j.neuroscience.2011.05.057; Ramakrishnan NA, Drescher MJ, Drescher DG. The SNARE complex in neuronal and sensory cells. Mol Cell Neurosci. 2012;50(1):58-69. doi:10.1016/j.mcn.2012.03.009; Saitsu H, Kato M, Mizuguchi T, et al. De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. Nat Genet. 2008;40(6):782-788. doi:10.1038/ ng.150; Uddin M, Woodbury-Smith M, Chan AJS, et al. Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots. G3amp58 GenesGenomesGenetics. 2018;8(4):1115-1118. doi:10.1534/ g3.118.200080; Swanson DA, Steel JM, Valle D. Identification and Characterization of the Human Ortholog of Rat STXBP1, a Protein Implicated in Vesicle Trafficking and Neurotransmitter Release. Genomics. 1998;48(3):373-376. doi:10.1006/geno.1997.5202; Shen C, Rathore SS, Yu H, et al. The trans-SNARE-regulating function of Munc18-1 is essential to synaptic exocytosis. Nat Commun. 2015;6(1). doi:10.1038/ncomms9852; Toonen RFG, Wierda K, Sons MS, et al. Munc18-1 expression levels control synapse recovery by regulating readily releasable pool size. Proc Natl Acad Sci. 2006;103(48):18332-18337. doi:10.1073/ pnas.0608507103; Suri M, Evers JMG, Laskowski RA, et al. Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1. Mol Genet Genomic Med. 2017;5(5):495-507. doi:10.1002/mgg3.304; Verhage M. Synaptic Assembly of the Brain in the Absence of Neurotransmitter Secretion. Science. 2000;287(5454):864-869. doi:10.1126/science.287.5454.864; Yamamoto T, Shimojima K, Yano T, et al. Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy. Brain Dev. 2016;38(3):280-284. doi:10.1016/j.braindev.2015.09.004; Zhou P, He N, Zhang J-W, et al. Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies. Genes Brain Behav. 2018;17(8):e12456. doi:10.1111/gbb.12456; Patzke C, Han Y, Covy J, et al. Analysis of conditional heterozygous STXBP1 mutations in human neurons. J Clin Invest. 2015;125(9):3560-3571. doi:10.1172/JCI78612; Yamashita S, Chiyonobu T, Yoshida M, et al. Mislocalization of syntaxin-1 and impaired neurite growth observed in a human iPSC model for STXBP1 -related epileptic encephalopathy. Epilepsia. 2016;57(4):e81-e86. doi:10.1111/epi.13338; The DDD Study, Homozygosity Mapping Collaborative for Autism, UK10K Consortium, et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 2014;515(7526):209- 215. doi:10.1038/nature13772; Murillo E. Características de las personas con el síndrome STXBP1 en España: implicaciones para el diagnóstico. An Pediatría. May 2019. doi:10.1016/j.anpedi.2019.04.008; Stamberger H, Nikanorova M, Willemsen MH, et al. STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. Neurology. 2016;86(10):954-962. doi:10.1212/ WNL.0000000000002457; Ortega-Moreno L, Giráldez BG, Verdú A, et al. Nueva mutación en el gen STXBP1 en un paciente con síndrome de Ohtahara no lesional. Neurología. 2016;31(8):523-527. doi:10.1016/j. nrl.2014.10.017; Milh M, Villeneuve N, Chouchane M, et al. Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations: STXBP1 and Early Onset Epilepsy. Epilepsia. 2011;52(10):1828-1834. doi:10.1111/j.1528- 1167.2011.03181.x; Saitsu H, Kato M, Okada I, et al. STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern: Haploinsufficiency of STXBP1 in EIEE. Epilepsia. 2010;51(12):2397-2405. doi:10.1111/j.1528-1167.2010.02728.x; Keogh MJ, Daud D, Pyle A, et al. A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late- onset juvenile-onset parkinsonism. neurogenetics. 2015;16(1):65- 67. doi:10.1007/s10048-014-0431-z; Lanoue V, Chai YJ, Brouillet JZ, et al. STXBP1 encephalopathy: Connecting neurodevelopmental disorders with α-synucleinopathies? Neurology. June 2019:10.1212/ WNL.0000000000007786. doi:10.1212/WNL.0000000000007786; Yamamoto T, Imaizumi T, Yamamoto-Shimojima K, et al. Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders. Brain Dev. June 2019. doi:10.1016/j.braindev.2019.05.007; Campbell IM, Yatsenko SA, Hixson P, et al. Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A. Genet Med. 2012;14(10):868-876. doi:10.1038/gim.2012.65; Yuen RKC, Thiruvahindrapuram B, Merico D, et al. Whole-genome sequencing of quartet families with autism spectrum disorder. Nat Med. 2015;21(2):185-191. doi:10.1038/nm.3792; Rezazadeh A, Uddin M, Snead OC, et al. STXBP1 encephalopathy is associated with awake bruxism. Epilepsy Behav. 2019;92:121- 124. doi:10.1016/j.yebeh.2018.12.018; Liu J, Tong L, Song S, et al. Novel and de novo mutations in pediatric refractory epilepsy. Mol Brain. 2018;11(1). doi:10.1186/ s13041-018-0392-5; Kovačević J, Maroteaux G, Schut D, et al. Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy. Brain. 2018;141(5):1350-1374. doi:10.1093/brain/awy046; Uddin M, Woodbury-Smith M, Chan A, et al. Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes. Neurol Genet. 2017;3(6):e199. doi:10.1212/ NXG.0000000000000199; https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/966/1190; https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/966/1548; https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/966/1547; https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/966/1401; https://revistas.fucsalud.edu.co/index.php/repertorio/article/download/966/1549; Núm. 3 , Año 2020 : Septiembre-Diciembre; 197; 192; 29; Revista Repertorio de Medicina y Cirugía; https://repositorio.fucsalud.edu.co/handle/001/2942; https://doi.org/10.31260/RepertMedCir.01217273.966

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    Alternate Title: Photographic memory of Putaendo in the "Rolando Videla Olguín" fund. An experience from design and socio-community participation. (English)

    المصدر: Kepes; ene-jun2024, Vol. 21 Issue 29, p271-307, 37p

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    Dissertation/ Thesis
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    المصدر: Biomedica; Vol. 42 No. Sp. 1 (2022): Mayo, Enfermedades crónicas en el trópico; 130-143 ; Biomédica; Vol. 42 Núm. Sp. 1 (2022): Mayo, Enfermedades crónicas en el trópico; 130-143 ; 2590-7379 ; 0120-4157

    وصف الملف: application/pdf; text/xml

    Relation: https://revistabiomedica.org/index.php/biomedica/article/view/6129/5034; https://revistabiomedica.org/index.php/biomedica/article/view/6129/5118; Malm E, Ponjavic V, Möller C, Kimberling WJ, Andréasson S. Phenotypes in defined genotypes including siblings with Usher syndrome. Ophthalmic Genet. 2011;32:65-74.; Kaplan HJ, Wang W, Dean DC. Restoration of cone photoreceptor function in retinitis pigmentosa. Transl Vis Sci Technol. 2017;6:5. 10.1167/tvst.6.5.5 https://doi.org/10.1167/tvst.6.5.5; Pakarinen L, Tuppurainen K, Laippala P, Mäntyjärvi M, Puhakka H. The ophthalmological course of Usher syndrome type III. Ophthalmic Lit. 1997;1:36. https://doi.org/10.1007/BF00130927; Rabin J, Houser B, Talbert C, Patel R. Measurement of dark adaptometry during ISCEV standard flash electroretinography. Doc Ophthalmol. 2017;135:195-208. https://doi.org/10.1007/s10633-017-9614-x; Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, et al. Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS ONE. 2012;7:e28936. https://doi.org/10.1371/journal.pone.0028936; Parmeggiani F, Sorrentino F, Ponzin D, Barbaro V, Ferrari S, Di Lorio E. Retinitis pigmentosa: Genes and disease mechanisms. Curr Genomics. 2011;12:238-49. https://doi.org/10.2174/138920211795860107; Berson EL, Rosner B, Simonoff E. Risk factors for genetic typing and detection in retinitis pigmentosa. Am J Ophthalmol. 1980;89:763-75. https://doi.org/10.1016/0002-9394(80)90163-4; Cummings C, Fredrickson J, Harker L. Otolaryngology: Head and neck surgery. 4th edition. St Louis: Wiley Online Library; 2005. p. 2086-99.; Boughman JA, Vernon M, Shaver KA. Usher syndrome: Definition and estimate of prevalence from two high-risk populations. J Chronic Dis. 1983;36:595-603. https://doi.org/10.1016/0021-9681(83)90147-9; Cortés RA, Cenjor C, Ayuso C. Síndrome de Usher: aspectos clínicos, diagnósticos y terapéuticos. Tesis. Madrid: Universidad Autónoma de Madrid; 2004.; Tamayo ML, Bernal JE, Tamayo GE, Frías JL, Alvira G, Vergara O, et al. Usher syndrome: Results of a screening program in Colombia. Clin Genet. 2008;40:304-11. https://doi.org/10.1111/j.1399-0004.1991.tb03100.x; Leal GL, Moyano NG, Tamayo ML. Definición de subtipos del síndrome de Usher en población colombiana. Medicina (Mex). 2010;32:285-94.; Tamayo ML, Bernal JE, Tamayo GE, Frías JL. Study of the etiology of deafness in an institutionalized population in Colombia. Am J Med Genet. 1992;44:405-8. https://doi.org/10.1002/ajmg.1320440403; Khan KN, El-Asrag ME, Ku CA, Holder GE, McKibbin M, Arno G, et al. Specific alleles of CLN7 / MFSD8, a protein that localizes to photoreceptor synaptic terminals, cause a spectrum of nonsyndromic retinal dystrophy. Investig Opthalmology Vis Sci. 2017;58:2906. https://doi.org/10.1167/iovs.16-20608; Neuhaus C, Eisenberger T, Decker C, Nagl S, Blank C, Pfister M, et al. Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: Copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. Mol Genet Genomic Med. 2017;5:531-52. https://doi.org/10.1002/mgg3.312; Khateb S, Kowalewski B, Bedoni N, Damme M, Pollack N, Saada A, et al. A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans. Genet Med. 2018;20:1004-12. https://doi.org/10.1038/gim.2017.227; Trouillet A, Dubus E, Dégardin J, Estivalet A, Ivkovic I, Godefroy D, et al. Cone degeneration is triggered by the absence of USH1 proteins but prevented by antioxidant treatments. Sci Rep. 2018;8:1968. https://doi.org/10.1038/s41598-018-20171-0; Orejas J, Rico J. Hipoacusia: identificación e intervención precoces. Pediatría Integral. 2013;17:330-42.; Khateb S, Zelinger L, Mizrahi-Meissonnier L, Ayuso C, Koenekoop RK, Laxer U, et al. A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome. J Med Genet. 2014;51:460-9. https://doi.org/10.1136/jmedgenet-2014-102287; Namburi P, Ratnapriya R, Khateb S, Lazar CH, Kinarty Y, Obolensky A, et al. Bi-allelic truncating mutations in CEP78, encoding centrosomal protein 78, cause cone-rod degeneration with sensorineural hearing loss. Am J Hum Genet. 2016;99:777-84. https://doi.org/10.1016/j.ajhg.2016.07.010; Ren SM, Wu QH, Chen YB, Jiao ZH, Kong XD. Variation analysis of genes associated with Usher syndrome type 1 in 136 Chinese deafness families. Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2021;56:236-41. https://doi.org/10.3760/cma.j.cn115330-20200407-00273; Lentz J, Keats B. Usher syndrome type II. In: Adam MP, Ardinger HH, Pagon RA, et al. (editors). GeneReviews®. Seattle: University of Washington; 2016. Disponible en: https://www.ncbi.nlm.nih.gov/books/NBK1341/; Lentz J, Keats BJ. Usher syndrome type I. In: Adam MP, Ardinger HH, Pagon RA, et al. (editors). GeneReviews®. Seattle: University of Washington; 2016. Disponible en: https://www.ncbi.nlm.nih.gov/books/NBK1265/; Delgado JJ, Grupo PrevInfad/PAPPS infancia y adolescencia. Detección precoz de la hipoacusia infantil. Rev Pediatr Aten Primaria. 2011;13:279-97.; Mathur P, Yang J. Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities. Biochim Biophys Acta. 2015;1852:406-20. https://doi.org/10.1016/j.bbadis.2014.11.020; Eisenberger T, Slim R, Mansour A, Nauck M, Nürnberg G, Nürnberg P, et al. Targeted nextgeneration sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3. Orphanet J Rare Dis. 2012;7:59. https://doi.org/10.1186/1750-1172-7-59; Bauer C, Jenkins H. Otologic symptoms and syndromes. In: Flint PW, Haughey BH, Lund VJ, Niparko JK, Richardson MA, Robbins KT (editors). Cummings Otolaryngology Head & Neck Surgery. 6th edition. Philadelphia: Elsevier Saunders; 2015. p. 2100-15.; Hildebrand MS, Husein M, Smith RJ. Genetic sensorineural hearing loss. In: Flint PW, Haughey BH, Lund VJ, Niparko JK, Richardson MA, Robbins KT (editors). Cummings Otolaryngology Head & Neck Surgery. 6th edition. Philadelphia: Elsevier Saunders; 2015. p. 1887-1903.; López G, Gélvez NY, Tamayo M. Frecuencia de mutaciones en el gen de la usherina (USH2A) en 26 individuos colombianos con síndrome de Usher, tipo II. Biomédica. 2011;31:82-90. https://doi.org/10.7705/biomedica.v31i1.338; Ordóñez J, Tekin M. Deafness and myopia syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al. (editors). GeneReviews®. Seattle: University of Washington; 2017. Disponible en: https://www.ncbi.nlm.nih.gov/books/NBK269029/; Shearer AE, Hildebrand MS, Smith RJ. Hereditary hearing loss and deafness overview. In: Adam MP, Ardinger HH, Pagon RA, et al. (editors). GeneReviews®. University of Washington, Seattle; 2017. Disponible en: https://www.ncbi.nlm.nih.gov/books/NBK1434/; Nagase Y, Kurata K, Hosono K, Suto K, Hikoya A, Nakanishi H, et al. Visual outcomes in Japanese patients with retinitis pigmentosa and Usher syndrome caused by USH2A mutations. Semin Ophthalmol. 2018;33:560-5. https://doi.org/10.1080/08820538.2017.1340487; Testa F, Melillo P, Bonnet C, Marcelli V, De Benedictis A, Colucci R, et al. Clinical presentation and disease course of Usher syndrome because of mutations in MYO7A or USH2A. Retina. 2017;37:1581-90. https://doi.org/10.1097/IAE.0000000000001389; Pater JA, Green J, O’Rielly DD, Griffin A, Squires J, Burt T, et al. Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss. BMC Med Genet. 2019;20:68. https://doi.org/10.1186/s12881-019-0777-z; Sun LW, Johnson RD, Langlo CS, Cooper RF, Razeen MM, Russillo MC, et al. Assessing photoreceptor structure in retinitis pigmentosa and Usher syndrome. Investig Opthalmology Vis Sci. 2016;57:2428. https://doi.org/10.1167/iovs.15-18246; Ayuso C, Millan JM. Retinitis pigmentosa and allied conditions today: A paradigm of translational research. Genome Med. 2010;2:34. https://doi.org/10.1186/gm155; Chassine T, Bocquet B, Daien V, Ávila-Fernández A, Ayuso C, Collin RW, et al. Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia. Br J Ophthalmol. 2015;99:1360-5. https://doi.org/10.1136/bjophthalmol-2014-306224; Zhang Y, Wildsoet CF. The RPE in myopia development. In: Klettner AK, Dithmar S (editors). Retinal pigment epithelium in health and disease. Cham: Springer International Publishing; 2020. https://doi.org/10.1007/978-3-030-28384-1_7; Klettner AK, Dithmar S. Retinal pigment epithelium in health and disease. Cham: Springer International Publishing; 2020. https://doi.org/10.1007/978-3-030-28384-1; Park H, Tan CC, Faulkner A, Jabbar SB, Schmid G, Abey J, et al. Retinal degeneration increases susceptibility to myopia in mice. Mol Vis. 2013;19:2068-79.; Gregory-Evans K, Pennesi ME, Weleber RG. Retinitis pigmentosa and allied disorders. In: Ryan SJ, Sadda SR, Schachat AP (editors). Retina. Los Angeles: Saunders; Elsevier; 2013. https://doi.org/10.1016/B978-1-4557-0737-9.00040-0; Sánchez-Tocino H, Díez-Montero C, Villanueva-Gómez A, Lobo-Valentín R, Montero-Moreno JA. Phenotypic high myopia in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene. Ophthalmic Genet. 2019;40:170-6. https://doi.org/10.1080/13816810.2019.1605385; Lu Y, Sun X. Retinitis pigmentosa sine pigmento masqueraded as myopia: A case report (CARE). Medicine (Baltimore). 2021;100:e24006. https://doi.org/10.1097/MD.0000000000024006; Dad S, Rendtorff ND, Tranebjaerg L, Grønskov K, Karstensen HG, Brox V, et al. Usher syndrome in Denmark: Mutation spectrum and some clinical observations. Mol Genet Genomic Med. 2016;4:527-39. https://doi.org/10.1002/mgg3.228; García-García G, Aparisi MJ, Jaijo T, Rodrigo R, León AM, Ávila-Fernández A, et al. Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations. Orphanet J Rare Dis. 2011;6:65. https://doi.org/10.1186/1750-1172-6-65; Bashir R, Fatima A, Naz S. A frameshift mutation in SANS results in atypical Usher syndrome. Clin Genet. 2010;78:601-3. https://doi.org/10.1111/j.1399-0004.2010.01500.x; Adam M, Ardinger H, Pagon R, Wallace S, Bean L, Stephens K, et al. Nonsyndromic hearing loss and deafness, DFNA3. In: GeneReviews®. Seattle: University of Washington; 1998. Disponible en: https://www.ncbi.nlm.nih.gov/books/NBK1536/; Hildebrand M, Thorne N, Bromhead C, Kahrizi K, Webster J, Fattahi Z, et al. Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation. Clin Genet. 2010;77:563-71. https://doi.org/10.1111/j.1399-0004.2009.01344.x; Faundes V, Pardo RA, Castillo-Taucher S. Genética de la sordera congénita. Med Clínica. 2012;139:446-51. https://doi.org/10.1016/j.medcli.2012.02.014; Antenora A, Rinaldi C, Roca A, Pane C, Lieto M, Saccà F, et al. The multiple faces of spinocerebellar ataxia type 2. Ann Clin Transl Neurol. 2017;4:687-95. https://doi.org/10.1002/acn3.437; Rossi M, Pérez-Lloret S, Doldan L, Cerquetti D, Balej J, Millar-Vernetti P, et al. Autosomal dominant cerebellar ataxias: A systematic review of clinical features. Eur J Neurol. 2014;21:607-15. https://doi.org/10.1111/ene.12350; Giocondo F, Curcio G. Spinocerebellar ataxia: A critical review of cognitive and sociocognitive deficits. Int J Neurosci. 2018;128:182-91. https://doi.org/10.1080/00207454.2017.1377198; Nolen R, Hufnagel R, Friedman T, Turriff A, Brewer C, Zalewski C, et al. Atypical and ultrarare Usher syndrome: A review. Ophthalmic Genet. 2020;41:401-12. https://doi.org/10.1080/13816810.2020.1747090; https://revistabiomedica.org/index.php/biomedica/article/view/6129

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    Academic Journal

    المؤلفون: Garcia de Paredes, Ángela

    مصطلحات موضوعية: Arquitectura, Artes escénicas

    Relation: Garcia de Paredes, A. (2016). Atlántida sumergida. REIA: Revista Europea de Investigación en Arquitectura, (6), 57-72. http://reia.es/REIA6_03.pdf; http://hdl.handle.net/11268/5603

  16. 16
    Dissertation/ Thesis

    المؤلفون: Nuñez Paredes, Angela Karina

    المساهمون: Cárdenas Canales, Daniel Armando

    المصدر: Repositorio Institucional - UCV ; Universidad César Vallejo

    وصف الملف: application/pdf

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    Academic Journal
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    Academic Journal

    المؤلفون: Herrera Paredes, Ángela

    المصدر: Intervención, Revista Internacional de Conservación, Restauración y Museología; Número 12, julio-diciembre, 2015; 67-76 ; En trámite ; 2007-249X

    وصف الملف: application/pdf; image/jpeg; application/vnd.openxmlformats-officedocument.wordprocessingml.document

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