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1Academic Journal
المؤلفون: Fabiana Louise Motta, Renan Paulo Martin, Rafael Filippelli-Silva, Mariana Vallim Salles, Juliana Maria Ferraz Sallum
المصدر: Scientific Reports, Vol 8, Iss 1, Pp 1-9 (2018)
مصطلحات موضوعية: Inherited Retinal Dystrophies (IRDs), Leber Congenital Amaurosis, Brazilian Public Health System, Stargardt's Disease (STGD), Bietti Crystalline Dystrophy, Medicine, Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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2Academic Journal
المؤلفون: Kárita Antunes Costa, Mariana Vallim Salles, Chris Whitebirch, John Chiang, Juliana Maria Ferraz Sallum
المصدر: International Journal of Retina and Vitreous, Vol 3, Iss 1, Pp 1-11 (2017)
مصطلحات موضوعية: Retinitis pigmentosa, Retinal dystrophies genes, Next generation sequencing, Illumina platform, Molecular diagnosis, Ophthalmology, RE1-994
وصف الملف: electronic resource
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3Academic Journal
المؤلفون: Fabiana Louise Motta, Mariana Vallim Salles, Karita Antunes Costa, Rafael Filippelli-Silva, Renan Paulo Martin, Juliana Maria Ferraz Sallum
المصدر: Scientific Reports, Vol 7, Iss 1, Pp 1-9 (2017)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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4Academic Journal
المؤلفون: Mariana Matioli da Palma, Fabiana Louise Motta, Mariana Vallim Salles, Caio Henrique Marques Texeira, André V. Gomes, Ricardo Casaroli-Marano, Juliana Maria Ferraz Sallum
المصدر: Genes; Volume 12; Issue 5; Pages: 713
مصطلحات موضوعية: bietti crystalline dystrophy, CYP4V2 protein, genetic testing, missense mutation, insertion-deletion mutation
جغرافية الموضوع: agris
وصف الملف: application/pdf
Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12050713
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5
المؤلفون: Mariana Vallim Salles, Mariana Matioli da Palma, Juliana Maria Ferraz Sallum, Guilherme Eiichi da Silva Takitani, Fabiana Louise Motta, Luiz H. Lima
المصدر: Ophthalmic Genetics. 41:189-193
مصطلحات موضوعية: 0301 basic medicine, Retinal degeneration, Microcephaly, Pediatrics, medicine.medical_specialty, genetic structures, business.industry, 030105 genetics & heredity, medicine.disease, Ciliopathies, eye diseases, 03 medical and health sciences, Ophthalmology, Inborn Genetic Diseases, 0302 clinical medicine, Recessive inheritance, Pediatrics, Perinatology and Child Health, 030221 ophthalmology & optometry, Medicine, business, Genetics (clinical)
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6
المؤلفون: Ricardo P. Casaroli-Marano, André V Gomes, Fabiana Louise Motta, Caio Henrique Marques Texeira, Juliana Maria Ferraz Sallum, Mariana Matioli da Palma, Mariana Vallim Salles
المصدر: Genes
Genes, Vol 12, Iss 713, p 713 (2021)
Dipòsit Digital de la UB
Universidad de Barcelonaمصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, CYP4V2 protein, Case Report, Cristal·lí, QH426-470, genetic testing, 03 medical and health sciences, 0302 clinical medicine, BIETTI CRYSTALLINE DYSTROPHY, Ophthalmology, Genotype, Genetics, Malalties hereditàries, Medicine, Missense mutation, Crystalline lens, Macular hole, Genetics (clinical), Retina, insertion-deletion mutation, business.industry, missense mutation, Retinal detachment, medicine.disease, Phenotype, eye diseases, 030104 developmental biology, medicine.anatomical_structure, bietti crystalline dystrophy, Severe phenotype, 030221 ophthalmology & optometry, sense organs, business, Genetic diseases
وصف الملف: application/pdf
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7
المؤلفون: Bruna Ferraço, Marianelli, Flávio Moura Rezende, Filho, Mariana Vallim, Salles, João Brainer Clares, de Andrade, José Luiz, Pedroso, Juliana Maria Ferraz, Sallum, Orlando Graziani P, Barsottini
المصدر: Cerebellum (London, England). 20(3)
مصطلحات موضوعية: Adult, Ataxin-7, Male, Aging, Fundus Oculi, Vision Tests, Retinal Degeneration, Middle Aged, Retina, Young Adult, Phenotype, Trinucleotide Repeats, Retinal Rod Photoreceptor Cells, Cerebellum, Retinal Cone Photoreceptor Cells, Humans, Spinocerebellar Ataxias, Female, Visual Pathways, Age of Onset, Tomography, Optical Coherence
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8
المؤلفون: Juliana Maria Ferraz Sallum, Renan Paulo Martin, Karita Antunes Costa, Fabiana Louise Motta, Rafael Filippelli-Silva, Mariana Vallim Salles
المصدر: Scientific Reports, Vol 7, Iss 1, Pp 1-9 (2017)
Scientific Reportsمصطلحات موضوعية: Male, 0301 basic medicine, genetic structures, Severity of Illness Index, 0302 clinical medicine, Genotype, Missense mutation, Age of Onset, Fluorescein Angiography, Child, Genetics, Multidisciplinary, CRB1, Phenotype, Child, Preschool, Medicine, Female, Brazil, Retinal Dystrophies, Adolescent, Science, Nerve Tissue Proteins, Biology, Article, Frameshift mutation, Young Adult, 03 medical and health sciences, Retinitis pigmentosa, medicine, Humans, Genetic Predisposition to Disease, Amino Acid Sequence, Eye Proteins, Alleles, Genetic Association Studies, Retrospective Studies, Infant, Newborn, Genetic Variation, Infant, Membrane Proteins, Dystrophy, medicine.disease, 030104 developmental biology, Mutation, 030221 ophthalmology & optometry, sense organs
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9
المؤلفون: Ymkje M. Hettinga, Karsten Hufendiek, Jacek P. Szaflik, Ian M. MacDonald, Isabelle Meunier, Marcela D. Mena, Kaoru Fujinami, Mubeen Khan, Eyal Banin, Elfride De Baere, G. Jane Farrar, Adrian Dockery, Rianne Miller, Tamar Ben-Yosef, Manar Salameh, L. Ingeborgh van den Born, Anna M Tracewska, Sandro Banfi, Caroline C W Klaver, John N. De Roach, Carmen Ayuso, Sabine Defoort, Damjan Glavač, Ulrich Kellner, Juliana Maria Ferraz Sallum, Claire-Marie Dhaenens, Stéphanie S. Cornelis, Bernhard H. F. Weber, Klaus Rüther, Jennifer A. Thompson, Bernard Puech, Raj Ramesar, Aurore Devos, Lisa Roberts, Herbert Jägle, Osvaldo L. Podhajcer, Hadas Newman, Bohdan Kousal, Femke Bults, Marta Del Pozo-Valero, Marc Pieterse, Laura Whelan, Xavier Zanlonghi, Alaa AlTalbishi, Francesca Simonelli, Marloes Steehouwer, Caroline Thuillier, Frans P.M. Cremers, Andrea L Vincent, Smaragda Kamakari, Ana Fakin, Anna Matynia, Dror Sharon, Ketan Mishra, Mariana Vallim Salles, Heidi Stöhr, Miriam Bauwens, Petra Liskova, Esmee H. Runhart, Buhle Ntozini, Georg Spital, Carel B. Hoyng, Takaaki Hayashi, Terri L. McLaren, Martine van Zweeden, Lubica Dudakova, Camiel J. F. Boon, Christian Gilissen, Jacquie Greenberg, Monika Ołdak, Tina M. Lamey, Yahya AlSwaiti, Alexander Hoischen, Marianthi Karali, Michael B. Gorin
المساهمون: Ophthalmology, ANS - Complex Trait Genetics, Khan, Mubeen, Cornelis, Stéphanie S, Pozo-Valero, Marta Del, Whelan, Laura, Runhart, Esmee H, Mishra, Ketan, Bults, Femke, Alswaiti, Yahya, Altalbishi, Alaa, De Baere, Elfride, Banfi, Sandro, Banin, Eyal, Bauwens, Miriam, Ben-Yosef, Tamar, Boon, Camiel J F, van den Born, L Ingeborgh, Defoort, Sabine, Devos, Aurore, Dockery, Adrian, Dudakova, Lubica, Fakin, Ana, Farrar, G Jane, Sallum, Juliana Maria Ferraz, Fujinami, Kaoru, Gilissen, Christian, Glavač, Damjan, Gorin, Michael B, Greenberg, Jacquie, Hayashi, Takaaki, Hettinga, Ymkje M, Hoischen, Alexander, Hoyng, Carel B, Hufendiek, Karsten, Jägle, Herbert, Kamakari, Smaragda, Karali, Marianthi, Kellner, Ulrich, Klaver, Caroline C W, Kousal, Bohdan, Lamey, Tina M, Macdonald, Ian M, Matynia, Anna, Mclaren, Terri L, Mena, Marcela D, Meunier, Isabelle, Miller, Rianne, Newman, Hada, Ntozini, Buhle, Oldak, Monika, Pieterse, Marc, Podhajcer, Osvaldo L, Puech, Bernard, Ramesar, Raj, Rüther, Klau, Salameh, Manar, Salles, Mariana Vallim, Sharon, Dror, Simonelli, Francesca, Spital, Georg, Steehouwer, Marloe, Szaflik, Jacek P, Thompson, Jennifer A, Thuillier, Caroline, Tracewska, Anna M, van Zweeden, Martine, Vincent, Andrea L, Zanlonghi, Xavier, Liskova, Petra, Stöhr, Heidi, Roach, John N De, Ayuso, Carmen, Roberts, Lisa, Weber, Bernhard H F, Dhaenens, Claire-Marie, Cremers, Frans P M
المصدر: Genetics in Medicine
Genetics in medicine, 22(7), 1235-1246. Lippincott Williams and Wilkins
Genetics in Medicine, 22, 7, pp. 1235-1246
GENETICS IN MEDICINE
Genetics in Medicine, 22(7), 1235-1246. Lippincott Williams & Wilkins
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Genetics in Medicine, 22(7), 1235-1246. NATURE PUBLISHING GROUP
Genetics in Medicine, 22, 1235-1246مصطلحات موضوعية: DEEP-INTRONIC VARIANTS, Proband, smMIP, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], ABCA4, RPE65, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Macular Degeneration, Exon, 0302 clinical medicine, Missing heritability problem, purl.org/becyt/ford/3.2 [https], Medicine and Health Sciences, smMIPs, MUTATION, Genetics (clinical), Genetics, variants, 0303 health sciences, structural, biology, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Genomics, DYSTROPHY, Pedigree, 3. Good health, Stargardt disease, MATERNAL UNIPARENTAL ISODISOMY, purl.org/becyt/ford/3 [https], RETINAL, CHROMOSOME-1, PATIENT, STRUCTURAL VARIANTS, Deep sequencing, 03 medical and health sciences, SDG 3 - Good Health and Well-being, deep-intronic variants, REVEALS, medicine, Humans, 030304 developmental biology, REPAIR, deep-intronic variant, structural variants, medicine.disease, GENE, Introns, Uniparental Isodisomy, Mutation, 030221 ophthalmology & optometry, biology.protein, ATP-Binding Cassette Transporters, Transcriptome
وصف الملف: application/pdf
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10
المؤلفون: Rita Sousa Silva, Mariana Vallim Salles, Fabiana Louise Motta, Juliana Maria Ferraz Sallum
المصدر: Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-6 (2020)مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, Retinal Disorder, Adolescent, Epidemiology, Visual Acuity, lcsh:Medicine, Fundus (eye), Article, Retina, Frameshift mutation, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Retinitis pigmentosa, Genetics research, Medicine, Humans, Young adult, Allele, lcsh:Science, Eye Proteins, Alleles, Retrospective Studies, Multidisciplinary, business.industry, lcsh:R, Retrospective cohort study, Middle Aged, medicine.disease, Prognosis, eye diseases, Pedigree, Young age, 030104 developmental biology, Mutation, 030221 ophthalmology & optometry, lcsh:Q, Female, sense organs, business, Microtubule-Associated Proteins, Brazil, Retinitis Pigmentosa
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11
المؤلفون: Carel B. Hoyng, Yahya AlSwaiti, Lubica Dudakova, Alexander Hoischen, Lisa Roberts, Christian Gilissen, Michael B. Gorin, Marc Pieterse, Isabelle Meunier, Damjan Glavač, Jacek P. Szaflik, Andrea L Vincent, Dror Sharon, Xavier Zanlonghi, Martine van Zweeden, Monika Ołdak, Bernard Puech, Camiel J. F. Boon, Femke Bults, Anna M. Tracewska, Marloes Steehouwer, Caroline C W Klaver, Jacquie Greenberg, Hadas Newman, Bohdan Kousal, Miriam Bauwens, Bernard H.F. Weber, Smaragda Kamakari, G. Jane Farrar, Eyal Banin, Elfride De Baere, Jennifer A. Thompson, Adrian Dockery, Marcela D. Mena, Tamar Ben-Yosef, Manar Salameh, Laura Whelan, Tina M. Lamey, L. Ingeborgh van den Born, Ana Fakin, Frans P.M. Cremers, Klaus Rüther, Buhle Ntozini, Sandro Banfi, Claire-Marie Dhaenens, Raj Ramesar, Georg Spital, Osvaldo L. Podhajcer, Heidi Stöhr, Ulrich Kellner, Esmee H. Runhart, Herbert Jägle, John N. De Roach, Kaoru Fujinami, Marta Del Pozo-Valero, Takaaki Hayashi, Juliana Maria Ferraz Sallum, Petra Liskova, Terri L. McLaren, Karsten Hufendiek, Marianthi Karali, Stéphanie S. Cornelis, Sabine Defoort, Ymkje M. Hettinga, Francesca Simonelli, Alaa AlTabishi, Mubeen Khan, Caroline Thuillier, Anna Matynia, Carmen Ayuso, Ketan Mishra, Mariana Vallim Salles, Ian M. MacDonald, Aurore Devos, Rianne Miller
مصطلحات موضوعية: Genetics, 0303 health sciences, Sequence analysis, Genomics, Biology, medicine.disease, DNA sequencing, Stargardt disease, 03 medical and health sciences, Exon, 0302 clinical medicine, Missing heritability problem, 030221 ophthalmology & optometry, medicine, Coding region, Gene, 030304 developmental biology
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12
المؤلفون: Juliana Maria Ferraz Sallum, Mariana Vallim Salles, Renan Paulo Martin, Rafael Filippelli-Silva, Fabiana Louise Motta
المصدر: Scientific Reports
Scientific Reports, Vol 8, Iss 1, Pp 1-9 (2018)مصطلحات موضوعية: 0301 basic medicine, Pediatrics, Leber Congenital Amaurosis, ABCA4, Cell Cycle Proteins, Macular Degeneration, Prevalence, Outpatient clinic, Stargardt Disease, education.field_of_study, Multidisciplinary, CRB1, medicine.diagnostic_test, biology, Neoplasm Proteins, Brazilian Public Health System, Medicine, Stargardt's Disease (STGD), Retinal Dystrophies, Brazil, Retinitis Pigmentosa, medicine.medical_specialty, Science, Population, Nerve Tissue Proteins, Article, 03 medical and health sciences, Antigens, Neoplasm, Retinitis pigmentosa, medicine, Humans, Genetic Testing, education, Eye Proteins, Bietti Crystalline Dystrophy, Genetic testing, Adaptor Proteins, Signal Transducing, Retrospective Studies, Polymorphism, Genetic, business.industry, Inherited Retinal Dystrophies (IRDs), Membrane Proteins, medicine.disease, Stargardt disease, Cytoskeletal Proteins, 030104 developmental biology, biology.protein, ATP-Binding Cassette Transporters, business
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13
المؤلفون: Mariana Vallim, Salles, Fabiana Louise, Motta, Renan, Martin, Rafael, Filippelli-Silva, Elton, Dias da Silva, Patricia, Varela, Kárita Antunes, Costa, John PeiWen, Chiang, João Bosco, Pesquero, Juliana-Maria Ferraz, Sallum
المصدر: Molecular Vision
مصطلحات موضوعية: Adult, Male, Adolescent, DNA Mutational Analysis, Visual Acuity, Polymorphism, Single Nucleotide, Consanguinity, Macular Degeneration, Young Adult, Electroretinography, Humans, Stargardt Disease, Fluorescein Angiography, Child, Aged, Retrospective Studies, High-Throughput Nucleotide Sequencing, Middle Aged, Pedigree, Phenotype, Mutation, ATP-Binding Cassette Transporters, Female, Brazil, Tomography, Optical Coherence, Research Article
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14
المؤلفون: Caio Perez Gomes, Juliana Maria Ferraz Sallum, Fabiana Louise Motta, Mariana Vallim Salles, João Bosco Pesquero, Mariana Matioli da Palma
المصدر: Investigative Ophthalmology & Visual Science
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Retinal degeneration, RNA Splicing, Biology, Choroideremia, CHM gene, aberrant splicing, 03 medical and health sciences, symbols.namesake, Exon, 0302 clinical medicine, synonymous variant, Genetics, medicine, Humans, Gene, Adaptor Proteins, Signal Transducing, Sanger sequencing, Genetic Variation, Middle Aged, medicine.disease, Phenotype, 030104 developmental biology, Mutation, RNA splicing, 030221 ophthalmology & optometry, symbols, Microperimetry
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15
المؤلفون: Patricia Varela Lima Teixeira, Renan Paulo Martin, Fabiana Louise Motta, Rafael Filippelli-Silva, Elton Dias da Silva, Mariana Vallim Salles, Juliana Maria Ferraz Sallum, Karita Antunes Costa, João Bosco Pesquero
المصدر: Ophthalmic genetics. 38(1)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, genetic structures, Visual Acuity, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, Macular Degeneration, Young Adult, medicine, PROM1 Gene, Humans, Stargardt Disease, 3' Flanking Region, AC133 Antigen, Fluorescein Angiography, Child, Gene, Genetics (clinical), Sequence (medicine), Retrospective Studies, Genetics, High-Throughput Nucleotide Sequencing, Macular dystrophy, Pathogenicity, medicine.disease, eye diseases, Stargardt disease, Ophthalmology, 030104 developmental biology, Pediatrics, Perinatology and Child Health, ATP-Binding Cassette Transporters, Retinal Dystrophies, Brazil, Tomography, Optical Coherence
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16
المؤلفون: Rafael Filippelli-Silva, João Bosco Pesquero, Elton Dias da Silva, Mariana Vallim Salles, Renan Paulo Martin, Juliana Maria Ferraz Sallum, Karita Antunes Costa, Fabiana Louise Motta, John Chiang, Patrícia Siqueira Varela
المصدر: Repositório Institucional da UNIFESP
Universidade Federal de São Paulo (UNIFESP)
instacron:UNIFESPمصطلحات موضوعية: 0301 basic medicine, Proband, Male, Cross-sectional study, DNA Mutational Analysis, macular degeneration/genetics, Visual Acuity, ABCA4, medicine.disease_cause, Macular Degeneration, 0302 clinical medicine, Stargardt Disease, Child, Genetics, Mutation, biology, High-Throughput Nucleotide Sequencing, Middle Aged, Phenotype, Pedigree, Stargardt disease, Female, hereditary, Brazil, Adult, Adolescent, complex allele, Retina, 03 medical and health sciences, Young Adult, medicine, Electroretinography, Humans, human, Allele, retinal dystrophy, Gene, Alleles, Genetic Association Studies, Aged, eye diseases, medicine.disease, 030104 developmental biology, Cross-Sectional Studies, 030221 ophthalmology & optometry, biology.protein, ATP-Binding Cassette Transporters, ABCA4 protein
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17
المؤلفون: Mariana Vallim Salles, Mário Teruo Sato, Heraldo de O. Mello Neto, Ana Tereza Ramos Moreira, Gilvani Azor de Oliveira e Cruz
المصدر: Ophthalmology. 114:623-624
مصطلحات موضوعية: Ophthalmology, Pathology, medicine.medical_specialty, medicine.anatomical_structure, business.industry, Medicine, business, medicine.disease, Extraocular muscles, Myositis
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18
المؤلفون: Suel Abujamra, Daniel Martin, Mariana Matioli da Palma, Juliana Maria Ferraz Sallum, Mariana Vallim Salles, Fabiana Louise Motta
المصدر: Arquivos Brasileiros de Oftalmologia, Vol 82, Iss 2, Pp 158-160
مصطلحات موضوعية: Retinal degeneration, Pathology, medicine.medical_specialty, genetic structures, Vitelliform macular dystrophy, Fundus (eye), 03 medical and health sciences, 0302 clinical medicine, lcsh:Ophthalmology, Retinitis pigmentosa, medicine, Retinite pigmentosa, business.industry, General Medicine, medicine.disease, Leber congenital amaurosis, Photoreceptor outer segment, Genética, eye diseases, Técnicas de genotipagem, Stargardt disease, Ophthalmology, lcsh:RE1-994, 030221 ophthalmology & optometry, Distrofia macular viteliforme, sense organs, Degeneração retiniana, business, Retinal Dystrophies