Literatura científica selecionada sobre o tema "Usher syndrome type 3"
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Artigos de revistas sobre o assunto "Usher syndrome type 3"
Castiglione, Alessandro, e Claes Möller. "Usher Syndrome". Audiology Research 12, n.º 1 (11 de janeiro de 2022): 42–65. http://dx.doi.org/10.3390/audiolres12010005.
Texto completo da fonteSahu, Sabin, e Sanjay Kumar Singh. "Usher syndrome Type I in an adult Nepalese male: a rare case report". Nepalese Journal of Ophthalmology 9, n.º 2 (21 de fevereiro de 2018): 203–5. http://dx.doi.org/10.3126/nepjoph.v9i2.19271.
Texto completo da fonteYoshimura, Hidekane, Chie Oshikawa, Jun Nakayama, Hideaki Moteki e Shin-ichi Usami. "Identification of a Novel CLRN1 Gene Mutation in Usher Syndrome Type 3". Annals of Otology, Rhinology & Laryngology 124, n.º 1_suppl (5 de março de 2015): 94S—99S. http://dx.doi.org/10.1177/0003489415574069.
Texto completo da fonteWagenaar, Mariette, Paul Draaijer, Hans Meek, H. J. ten Donkelaar, Pieter Wesseling, William Kimberling e Cor Cremers. "The cochlear nuclei in two patients with Usher syndrome type I". International Journal of Pediatric Otorhinolaryngology 50, n.º 3 (novembro de 1999): 185–95. http://dx.doi.org/10.1016/s0165-5876(99)00246-3.
Texto completo da fontePietola, Laura, Antti A. Aarnisalo, Akram Abdel-Rahman, Hanna Västinsalo, Juha Isosomppi, Heikki Löppönen, Erna Kentala et al. "Speech Recognition and Communication Outcomes With Cochlear Implantation in Usher Syndrome Type 3". Otology & Neurotology 33, n.º 1 (janeiro de 2012): 38–41. http://dx.doi.org/10.1097/mao.0b013e31823dbc56.
Texto completo da fonteJoensuu, Tarja, Riikka Hämäläinen, Bo Yuan, Cheryl Johnson, Saara Tegelberg, Paolo Gasparini, Leopoldo Zelante et al. "Mutations in a Novel Gene with Transmembrane Domains Underlie Usher Syndrome Type 3". American Journal of Human Genetics 69, n.º 4 (outubro de 2001): 673–84. http://dx.doi.org/10.1086/323610.
Texto completo da fonteSmith, Richard J. H., Elizabeth C. Lee, William J. Kimberling, Stephen P. Daiger, Mary Z. Pelias, Bronya J. B. Keats, Marcelle Jay et al. "Localization of two genes for usher syndrome type I to chromosome 11". Genomics 14, n.º 4 (dezembro de 1992): 995–1002. http://dx.doi.org/10.1016/s0888-7543(05)80122-3.
Texto completo da fonteCuzzuol, Beatriz Rocha, Jonathan Santos Apolonio, Ronaldo Teixeira da Silva Júnior, Lorena Sousa de Carvalho, Luana Kauany de Sá Santos, Luciano Hasimoto Malheiro, Marcel Silva Luz et al. "Usher syndrome: Genetic diagnosis and current therapeutic approaches". World Journal of Otorhinolaryngology 11, n.º 1 (19 de janeiro de 2024): 1–17. http://dx.doi.org/10.5319/wjo.v11.i1.1.
Texto completo da fonteAhmed, Zubair M., Saima Riazuddin, Sandar Aye, Rana A. Ali, Hanka Venselaar, Saima Anwar, Polina P. Belyantseva, Muhammad Qasim, Sheikh Riazuddin e Thomas B. Friedman. "Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome". Human Genetics 124, n.º 3 (22 de agosto de 2008): 215–23. http://dx.doi.org/10.1007/s00439-008-0543-3.
Texto completo da fonteLi, Taoxi, Yong Feng, Yalan Liu, Chufeng He, Jing Liu, Hongsheng Chen, Yuyuan Deng et al. "A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review". Gene 704 (julho de 2019): 113–20. http://dx.doi.org/10.1016/j.gene.2019.04.008.
Texto completo da fonteTeses / dissertações sobre o assunto "Usher syndrome type 3"
Joensuu, Tarja. "Positional cloning of the usher syndrome type 3 gene (USH3)". Helsinki : University of Helsinki, 2002. http://ethesis.helsinki.fi/julkaisut/laa/kliin/vk/joensuu/.
Texto completo da fonteWentling, Maureen. "Characterization of the disease mechanisms underlying clarin-mediated progressive hearing loss". Electronic Thesis or Diss., Sorbonne université, 2023. https://accesdistant.sorbonne-universite.fr/login?url=https://theses-intra.sorbonne-universite.fr/2023SORUS386.pdf.
Texto completo da fonteDespite high prevalence of debilitating hearing loss, underlying mechanisms of progressive hearing loss remain elusive. Our lab has been investigating the role(s) of clarin-1, responsible for Usher syndrome type III, causing progressive hearing loss, and clarin-2, responsible for non-syndromic hearing impairment, in the auditory system. Due to phenotypic variability in Usher Syndrome type III patients, even among patients with the same genetic mutations, we hypothesized that there may be a functional redundancy between the two clarins. Therefore, we generated clarin-1/clarin-2 total and conditional (Bhlhb5-cre and Myo15-cre) knockout mice. Using a multidisciplinary approach, integrating omics and electrophysiological studies with high resolution imaging over time, I pinpointed key molecular pathways dysregulated in the absence of clarin-1 and clarin-2 in auditory hair cells and primary auditory neurons. Phenotypic analysis of Clrn1-/-Clrn2-/- mice revealed profound deafness from hearing onset. Mechanoelectrical transduction (MET) current recordings were absent in Clrn1-/-Clrn2-/- mice, but only reduced in Clrn1-/- and Clrn2-/- mice. These results demonstrate a compensatory functional role of clarin-1 and clarin-2 at the hair bundle. I also observed abnormalities in ionic homeostasis, required for normal MET function and synaptic transmission, that were more severe in Clrn1-/-Clrn2-/- mice, relative to Clrn1-/- and Clrn2-/- mice. These ionic changes were accompanied by pre- and post-synaptic abnormalities, resulting in abnormal cytoplasmic vesicle accumulation and synaptic function in hair cells. Furthermore, I observed a progressive degeneration of the cochlear sensory epithelium and primary auditory neurons over time. To validate the hypothesis that the primary role(s) of clarin-1 and clarin-2 are in hair cells, I studied mice with hair cell-specific (Myo15-cre) deletion of clarin-1 and clarin-2. These conditional clarin knockout mice mimicked the ionic and synaptic changes found in total clarin knockout mice, resulting in primary auditory neuron degeneration. To reinforce this hypothesis, I studied the auditory phenotype in mice with primary auditory neuron-specific (Bhlhb5-cre) deletion of clarin-1 and clarin-2. These mice had normal audition up to 6 months of age, with no cochlear sensory epithelial changes or primary auditory neuron degeneration. To dig deeper into the common and unique molecular functions of clarin-1 and clarin-2, I performed RNA-seq on whole organ of Corti from Clrn1-/-, Clrn2-/-, and Clrn1-/-Clrn2-/- mice. In accordance with physiological observations, I found dysregulation in 8 distinct and physiologically relevant categories: cationic flux, synaptic organization and function, endocytosis and exocytosis, neuronal function and differentiation, metabolic function, actin and cytoskeletal organization, lipid homeostasis, and inflammation. We conclude that clarin-1 and clarin-2 play common and compensatory roles in mechanoelectrical transduction activity and pre- and post-synaptic integrity. The clarins are also required for auditory hair bundle integrity, ion homeostasis in auditory hair cells, and primary auditory neuronal survival. These findings will help elucidate novel mechanisms implicated in progressive hearing loss
Blaydon, Diana Claire. "Molecular genetics of Usher syndrome type 1C". Thesis, University College London (University of London), 2004. http://discovery.ucl.ac.uk/1446499/.
Texto completo da fonteHenricson, Cecilia. "Cognitive capacities and composite cognitive skills in individuals with Usher syndrome type 1 and 2". Doctoral thesis, Linköpings universitet, Institutionen för beteendevetenskap och lärande, 2015. http://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-120114.
Texto completo da fonteFöreliggande avhandling tillhör ämnet handikappvetenskap och beskriver specifika kognitiva förmågor hos personer med Ushers syndrom typ 1 och 2. Avhandlingens ämne har undersökts utifrån ett tvärvetenskapligt perspektiv, även om de teorier som tillämpas och beskrivs huvudsakligen härrör inom området kognitiv psykologi. Ushers syndrom är en ovanlig genetisk åkomma som leder till kombinationen av syn- och hörselnedsättning: dövblindhet. Individer med typ 1 av syndromet har medfödd dövhet medan individer med typ 2 har en medfödd måttlig till grav hörselnedsättning. Någon gång i åldrarna 6-10 år börjar de första symptomen, till exempel nedsatt mörkerseende, på den genetiskt betingade progressiva synnedsättningen Retinitis Pigmentosa att framträda. Syndromet är väl beskrivet i forskningen med avseende på genetiska och medicinska aspekter, men det finns extremt lite tidigare forskning med kognitivt perspektiv om populationen. Studierna 1 och 2 i föreliggande avhandling fokuserade på barn med Ushers syndrom typ 1 och cochleaimplantat. Dessa studier undersökte fonologisk förmåga, lexikal access, arbetsminne och läsning i gruppen. Studie 3 undersökte samma kognitiva förmågor hos vuxna med typ 2 av syndromet. I studie 4 undersöktes även den sammansatta förmågan Theory of Mind hos de vuxna med typ 2 och deras prestation jämfördes både mot en kontroll grupp med normal hörsel och syn och en kontrollgrupp med annan typ av dövblindhet; Alström syndrom. Resultaten visade att både barnen och de vuxna med Ushers syndrom hade signifikant sämre fonologisk förmåga än kontrollgruppen med normal hörsel. Nivån på prestation varierade stort inom grupperna, särskilt mellan barnen med typ 1, och flera av individerna (barn och vuxna) presterade trots hörselnedsättningen på samma nivå som de normalhörande. Läsfärdigheten befanns vara i nivå med kontrollgrupperna. I den vuxna gruppen var det stor variation i prestation även på Theory of Mind, men de flesta av individerna presterade liknande som kontrollgruppen med normal hörsel och syn. Föreliggande projekt har resulterat i lite mer kunskap om kognitiva färdigheter hos individer med Ushers syndrom typ 1 och 2. De resultat som individerna med Ushers syndrome presterade kan till stor del förstås och tolkas genom tillämpning av teorier och modeller utvecklade för att den inverkan på kognitiva förmågor det har att ha nedsatt hörsel och höra med hjälp av hörselapparat eller cochleaimplantat. Dock tyder fynden i detta projekt även på att individer med Ushers syndrom på grund av den allvarliga synnedsättningen har ytterligare svårigheter att få tillgodogöra sig information, men i vilken utsträckning och på vilket sätt är ännu inte beskrivet. Utifrån fynden i föreliggande studie blev rekommendation att interventioner och stöd till personer med Ushers syndrom utformas specifikt till varje individ, med hänsyn taget både till hens grad av synnedsättning och hörselnedsättning.
Labbe, Ménélik. "Caractérisation fonctionnelle du complexe de transduction mécano-électrique des cellules ciliées du système auditif". Electronic Thesis or Diss., Paris 6, 2016. http://www.theses.fr/2016PA066543.
Texto completo da fonteUsher syndrome (USH) is characterised by a sensorineural congenital deafness and a progressive loss of vision by retinitis pigmentosa. During my PhD, my main focus of study was a gene responsible for Usher syndrome type 2, USH2A. This gene codes for usherin, a protein associated with the fibrous links located at the base of the hair bundle of cochlear, and vestibular hair cells. In mice, these transitory links start to disappear as of postnatal day 9 (P9), and the molecular complex with which they are associated is composed of usherin, adgrv1 (an adhesion G protein coupled receptor), whirlin, and pdzd7 (two submembranous PDZ domain-containing scaffold proteins). Previous work has shown that the interaction in between these 4 proteins is essential for the development of the hair bundle, the structure responsible for the initiation of the mechano-electrical transduction (MET) process in the hair cells. During my thesis, I studied the short term and long term effects of the absence of the longest of the 2 usherin isoforms, the transmembrane b-isoform, in mice carrying a mutation in the Ush2a gene (Ush2aΔTM/ΔTM). In these mice, I measured mechano-electrical currents, auditory brainstem responses, undertook auditory masking tests, and analysed scanning electron micrographs of cochlear hair bundles. Through this work, I showed that basal lateral links similar to ankle links could be observed on P4, and that MET currents were normal on P7. The absence of the long b-isoform of usherin actually has very little effect on the morphology or the function of the cochlear hair bundle in mice, until 3 or 4 months of age. As of 4 months old however, Ush2aΔTM/ΔTM mice suffer from a progressive hearing loss, and frequency selectivity defects, mainly cause by a dysfunction of outer hair cells. These results will further add to the debate on whether the hearing loss in Usher syndrome type 2A is progressive or not. Hearing loss in USH2A patients is generally considered non progressive, but several studies have given indication to the contrary. My work has shown that in mice, deafness caused by mutations to the Ush2a gene can also follow a progressive pattern. The potential existence of this temporal window in USH2A patients whose hearing impairment is less severe at birth, but gets worse over time, could allow clinicians to use gene therapy as curative treatment for patients who fall into this category
Labbe, Ménélik. "Caractérisation fonctionnelle du complexe de transduction mécano-électrique des cellules ciliées du système auditif". Thesis, Paris 6, 2016. http://www.theses.fr/2016PA066543/document.
Texto completo da fonteUsher syndrome (USH) is characterised by a sensorineural congenital deafness and a progressive loss of vision by retinitis pigmentosa. During my PhD, my main focus of study was a gene responsible for Usher syndrome type 2, USH2A. This gene codes for usherin, a protein associated with the fibrous links located at the base of the hair bundle of cochlear, and vestibular hair cells. In mice, these transitory links start to disappear as of postnatal day 9 (P9), and the molecular complex with which they are associated is composed of usherin, adgrv1 (an adhesion G protein coupled receptor), whirlin, and pdzd7 (two submembranous PDZ domain-containing scaffold proteins). Previous work has shown that the interaction in between these 4 proteins is essential for the development of the hair bundle, the structure responsible for the initiation of the mechano-electrical transduction (MET) process in the hair cells. During my thesis, I studied the short term and long term effects of the absence of the longest of the 2 usherin isoforms, the transmembrane b-isoform, in mice carrying a mutation in the Ush2a gene (Ush2aΔTM/ΔTM). In these mice, I measured mechano-electrical currents, auditory brainstem responses, undertook auditory masking tests, and analysed scanning electron micrographs of cochlear hair bundles. Through this work, I showed that basal lateral links similar to ankle links could be observed on P4, and that MET currents were normal on P7. The absence of the long b-isoform of usherin actually has very little effect on the morphology or the function of the cochlear hair bundle in mice, until 3 or 4 months of age. As of 4 months old however, Ush2aΔTM/ΔTM mice suffer from a progressive hearing loss, and frequency selectivity defects, mainly cause by a dysfunction of outer hair cells. These results will further add to the debate on whether the hearing loss in Usher syndrome type 2A is progressive or not. Hearing loss in USH2A patients is generally considered non progressive, but several studies have given indication to the contrary. My work has shown that in mice, deafness caused by mutations to the Ush2a gene can also follow a progressive pattern. The potential existence of this temporal window in USH2A patients whose hearing impairment is less severe at birth, but gets worse over time, could allow clinicians to use gene therapy as curative treatment for patients who fall into this category
Fang, Fang. "Gain-of-function mutations in SCN5A gene lead to type-3 long QT syndrome". Cleveland State University / OhioLINK, 2012. http://rave.ohiolink.edu/etdc/view?acc_num=csu1354056382.
Texto completo da fonteHuang, Hai. "Biophysical Characterization of Three SCN5A Mutations Linked to Long QT Syndrome Type 3, Sudden Infant Death Syndrome, and Atrial Fibrillation". Thesis, Université Laval, 2010. http://www.theses.ulaval.ca/2010/27250/27250.pdf.
Texto completo da fonteHirose, Sayako. "Propranolol Attenuates Late Sodium Current in a Long QT Syndrome Type 3-Human Induced Pluripotent Stem Cell Model". Doctoral thesis, Kyoto University, 2021. http://hdl.handle.net/2433/265195.
Texto completo da fonteDELL'AQUILA, FABIO. "GENE THERAPY FOR GYRATE ATROPHY OF CHOROID AND RETINA AND FOR USH1B RETINITIS PIGMENTOSA". Doctoral thesis, Università degli Studi di Milano, 2021. http://hdl.handle.net/2434/884458.
Texto completo da fonteLivros sobre o assunto "Usher syndrome type 3"
The madness of Usher's: Coping with vision and hearing loss (Usher syndrome type II). Corpus Christi, Tex: Business of Living Publications, 1991.
Encontre o texto completo da fonteRobey, Seth Hamilton. Mechanisms of Mutation-Specific Inhibition of Late Na+ Current in Long QT Syndrome Type 3. [New York, N.Y.?]: [publisher not identified], 2017.
Encontre o texto completo da fonteJ, Carlson-Newberry Sydne, Southern California Evidence-Based Practice Center/RAND. e United States. Agency for Healthcare Research and Quality., eds. Effects of omega-3 fatty acids on lipids and glycemic control in type II diabetes and the metabolic syndrome and on inflammatory bowel disease, rheumatoid arthritis, renal disease, systemic lupus erythematosus, and osteoporosis. Rockville, MD: Agency for Healthcare Research and Quality, U.S. Department of Health and Human Services, 2004.
Encontre o texto completo da fonteUnited States. Agency for Healthcare Research and Quality., ed. Effects of omega-3 fatty acids on lipids and glycemic control in type II diabetes and the metabolic syndrome and on inflammatory bowel disease, rheumatoid arthritis, renal disease, systemic lupus erythematosus, and osteoporosis. [Rockville, Md.]: Agency for Healthcare Research and Quality, 2004.
Encontre o texto completo da fonteUnited States. Agency for Healthcare Research and Quality, ed. Effects of omega-3 fatty acids on lipids and glycemic control in type II diabetes and the metabolic syndrome and on inflammatory bowel disease, rheumatoid arthritis, renal disease, systemic lupus erythematosus, and osteoporosis. [Rockville, Md.]: Agency for Healthcare Research and Quality, 2004.
Encontre o texto completo da fonteUnited States. Agency for Healthcare Research and Quality., ed. Effects of omega-3 fatty acids on lipids and glycemic control in type II diabetes and the metabolic syndrome and on inflammatory bowel disease, rheumatoid arthritis, renal disease, systemic lupus erythematosus, and osteoporosis. [Rockville, Md.]: Agency for Healthcare Research and Quality, 2004.
Encontre o texto completo da fonteUnited States. Agency for Healthcare Research and Quality., ed. Effects of omega-3 fatty acids on lipids and glycemic control in type II diabetes and the metabolic syndrome and on inflammatory bowel disease, rheumatoid arthritis, renal disease, systemic lupus erythematosus, and osteoporosis. [Rockville, Md.]: Agency for Healthcare Research and Quality, 2004.
Encontre o texto completo da fonteEffects of omega-3 fatty acids on lipids and glycemic control in type II diabetes and the metabolic syndrome and on inflammatory bowel disease, rheumatoid arthritis, renal disease, systemic lupus erythematosus, and osteoporosis. [Rockville, Md.]: Agency for Healthcare Research and Quality, 2004.
Encontre o texto completo da fonteUS GOVERNMENT. Effects of Omega-3 Fatty Acids on Lipids and Glycemic Control in Type II Diabetes and the Metabolic Syndrome and on Inflammatory Bowel Disease, Rheuma (Ahrq Publication). Agency for Healthcare Research and Quality, 2004.
Encontre o texto completo da fonteEffects of omega-3 fatty acids on lipids and glycemic control in type II diabetes and the metabolic syndrome and on inflammatory bowel disease, rheumatoid arthritis, renal disease, systemic lupus erythematosus, and osteoporosis. [Rockville, Md.]: Agency for Healthcare Research and Quality, 2004.
Encontre o texto completo da fonteCapítulos de livros sobre o assunto "Usher syndrome type 3"
Ayyagari, Radha, Anren Li, Ann Nestorowicz, Yan Li, Richard J. H. Smith, M. Alan Permutt e J. Fielding Hejtmancik. "Usher Syndrome Type 1C". In Degenerative Retinal Diseases, 303–12. Boston, MA: Springer US, 1997. http://dx.doi.org/10.1007/978-1-4615-5933-7_33.
Texto completo da fonteSchell, Jonathan. "Usher Syndrome". In Encyclopedia of Ophthalmology, 1–3. Berlin, Heidelberg: Springer Berlin Heidelberg, 2015. http://dx.doi.org/10.1007/978-3-642-35951-4_135-3.
Texto completo da fonteSchell, Jonathan. "Usher Syndrome". In Encyclopedia of Ophthalmology, 1870–72. Berlin, Heidelberg: Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/978-3-540-69000-9_135.
Texto completo da fonteRappold, Gudrun, John-John B. Schnog, Victor E. A. Gerdes, Yvonne G. Weber, Jose M. Serratosa, Anna-Elina Lehesjoki, Alessandra Baumer et al. "Usher Syndrome". In Encyclopedia of Molecular Mechanisms of Disease, 2154–55. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_1811.
Texto completo da fonteAyyagari, Radha, Richard J. H. Smith, Elizabeth C. Lee, William J. Kimberling, Marcelle Jay, Alan Bird e J. Fielding Hejtmancik. "Heterogeneity of Usher Syndrome Type I". In Retinal Degeneration, 127–33. Boston, MA: Springer US, 1993. http://dx.doi.org/10.1007/978-1-4615-2974-3_12.
Texto completo da fonteTsang, Stephen H., Alicia R. P. Aycinena e Tarun Sharma. "Ciliopathy: Usher Syndrome". In Advances in Experimental Medicine and Biology, 167–70. Cham: Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-95046-4_32.
Texto completo da fonteWilliams, David S., e Vanda S. Lopes. "Gene Therapy Strategies for Usher Syndrome Type 1B". In Retinal Degenerative Diseases, 235–42. Boston, MA: Springer US, 2011. http://dx.doi.org/10.1007/978-1-4614-0631-0_31.
Texto completo da fonteBork, J. M., R. J. Morell, S. Khan, S. Riazuddin, E. R. Wilcox, T. B. Friedman e A. J. Griffith. "Clinical Presentation of DFNB12 and Usher Syndrome Type 1D". In Advances in Oto-Rhino-Laryngology, 145–52. Basel: KARGER, 2002. http://dx.doi.org/10.1159/000066829.
Texto completo da fonteNagel-Wolfrum, Kerstin, Timor Baasov e Uwe Wolfrum. "Therapy Strategies for Usher Syndrome Type 1C in the Retina". In Retinal Degenerative Diseases, 741–47. New York, NY: Springer New York, 2014. http://dx.doi.org/10.1007/978-1-4614-3209-8_93.
Texto completo da fonteGrant, Struan F. A. "Genetics of Type 2 Diabetes". In Metabolic Syndrome, 141–57. Cham: Springer International Publishing, 2016. http://dx.doi.org/10.1007/978-3-319-11251-0_11.
Texto completo da fonteTrabalhos de conferências sobre o assunto "Usher syndrome type 3"
Subasri, Vallijah, Nicholas Light, Benjamin Brew, Nathaniel Anderson, Adam Shlien, Anna Goldenberg e David Malkin. "Abstract 1639: Predictive modeling of cancer-type in Li-Fraumeni syndrome". In Proceedings: AACR Annual Meeting 2019; March 29-April 3, 2019; Atlanta, GA. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.sabcs18-1639.
Texto completo da fonteSubasri, Vallijah, Nicholas Light, Benjamin Brew, Nathaniel Anderson, Adam Shlien, Anna Goldenberg e David Malkin. "Abstract 1639: Predictive modeling of cancer-type in Li-Fraumeni syndrome". In Proceedings: AACR Annual Meeting 2019; March 29-April 3, 2019; Atlanta, GA. American Association for Cancer Research, 2019. http://dx.doi.org/10.1158/1538-7445.am2019-1639.
Texto completo da fonteAhmed, MI, P. Jordan, M. Arora, M. Iqbal, S. Bandi e M. Prasad. "G399(P) Sturge weber syndrome type 3 masquerading as ‘migraine status’ at presentation". In Royal College of Paediatrics and Child Health, Abstracts of the Annual Conference, 24–26 May 2017, ICC, Birmingham. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2017. http://dx.doi.org/10.1136/archdischild-2017-313087.392.
Texto completo da fonteGochuico, Bernadette R., Heidi Dorward, Caroline Yeager, Blanca J. Gomez e William A. Gahl. "Galectin-3 Co-Localizes With EEA-1 In Type II Cells In Hermansky-Pudlak Syndrome Pulmonary Fibrosis". 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.a3498.
Texto completo da fonteSahu, Satya Narayan, Biswajit Mishra, Rojalin Sahu e Chandana Mohanty. "Binding performance of Boerhavia Diffusa plant extracts targeting mutant PLCE1 gene in type 3 nephrotic syndrome: A molecular docking approach". In 2ND INTERNATIONAL CONFERENCE ON EMERGING SMART MATERIALS IN APPLIED CHEMISTRY (ESMAC-2021): ESMAC-2021. AIP Publishing, 2023. http://dx.doi.org/10.1063/5.0127424.
Texto completo da fonteSilva, Bruno Custódio, Gisele Delazeri, Ana Luíza Kolling Konopka, Giulia Righetti Tuppini Vargas, Paulo Ricardo Gazzola Zen e Rafael Fabiano Machado Rosa. "Report of a family affected by fragile X syndrome and type 1 diabetes mellitus". In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.076.
Texto completo da fontePinto, Icaro França Navarro, Wladimir Bocca Vieira de Rezende Pinto, Igor Braga Farias, Bruno de Mattos Lombardi Badia, Gustavo Carvalho Costa, Carolina Maria Marin, Ana Carolina Souza Jorge et al. "Oculogyric Crisis in a patient with PURA Syndrome". In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.121.
Texto completo da fonteRosborough, B. R., Y. Jiang, J. Chen, G. Kitsios, B. J. McVerry, A. Ray, W. Chen e P. Ray. "Single Cell RNA Sequencing Identifies Type I Interferon Signaling and Reduced Suppressor of Cytokine Signaling 3 Expression in Monocytes of Acute Respiratory Distress Syndrome Patients". In American Thoracic Society 2020 International Conference, May 15-20, 2020 - Philadelphia, PA. American Thoracic Society, 2020. http://dx.doi.org/10.1164/ajrccm-conference.2020.201.1_meetingabstracts.a6541.
Texto completo da fonteNobrega, Gabriela Bezerra, Marina Bellatti Küller, Gabriela Marçal Rios, Jonathan Yugo Maesaka e José Roberto Filassi. "Follow-up of a Li-Fraumeni syndrome case". In Brazilian Breast Cancer Symposium 2023. Mastology, 2023. http://dx.doi.org/10.29289/259453942023v33s1062.
Texto completo da fonteGyoneva, Lazarina, Mohammad F. Hadi, Yoav Segal, Kevin D. Dorfman e Victor H. Barocas. "Role of Lateral Interactions in Type IV Collagen Network Mechanics". In ASME 2013 Summer Bioengineering Conference. American Society of Mechanical Engineers, 2013. http://dx.doi.org/10.1115/sbc2013-14625.
Texto completo da fonteRelatórios de organizações sobre o assunto "Usher syndrome type 3"
YARIKOV, A. V., e I. I. SMIRNOV. EXPERIENCE OF DENERVATION OF INTERVERTEBRAL JOINTS OF THE LUMBAR SPINE. Science and Innovation Center Publishing House, abril de 2022. http://dx.doi.org/10.12731/978-0-615-67340-0-1.
Texto completo da fonteXin, Yuning, Hongyu Li, Gungyu Cheng, Junfeng Cui, Yinghui Liu, Aidong Liu, Xiaolin Xu, Pengfei Li e Huize Han. Evaluation of the Effectiveness and Safety of Acupuncture in the Treatment of Cervicogenic Hypertension A Protocol for Systematic Review and Meta-analysis. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, dezembro de 2022. http://dx.doi.org/10.37766/inplasy2022.12.0036.
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