Search Results - Matioli da Palma, Mariana*

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  1. 1
    Rare disease day and Ophthalmology

    Rare disease day and Ophthalmology by Palma, Mariana Matioli da, Vasconcellos, Cecilia Francini Cabral de, Sallum, Juliana Maria Ferraz

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  2. 2
    Injection pressure levels for creating blebs during subretinal gene therapy

    Injection pressure levels for creating blebs during subretinal gene therapy by Scruggs, Brittni A., Vasconcelos, Huber Martins, Matioli da Palma, Mariana, Kogachi, Katie, Pennesi, Mark E., Yang, Paul, Bailey, Steven T., Lauer, Andreas K.

    Published in Gene therapy
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  3. 3
    Three‐Year Safety Results of SAR422459 (EIAV‐ABCA4) Gene Therapy in Patients With ABCA4‐Associated Stargardt Disease: An Open‐Label Dose‐Escalation Phase I/IIa Clinical Trial, Cohorts 1‐5

    Three‐Year Safety Results of SAR422459 (EIAV‐ABCA4) Gene Therapy in Patients With ABCA4‐Associated Stargardt Disease: An Open‐Label Dose‐Escalation Phase I/IIa Clinical Trial, Coho... by Parker, Maria A., Erker, Laura R., Audo, Isabelle, Choi, Dongseok, Mohand-Said, Saddek, Sestakauskas, Kastytis, Benoit, Patrick, Appelqvist, Terence, Krahmer, Melissa, Ségaut-Prévost, Caroline, Lujan, Brandon J., Faridi, Ambar, Chegarnov, Elvira N., Steinkamp, Peter N., Ku, Cristy, da Palma, Mariana Matioli, Barale, Pierre-Olivier, Ayelo-Scheer, Sarah, Lauer, Andreas, Stout, Tim, Wilson, David J., Weleber, Richard G., Pennesi, Mark E., Sahel, José Alain, Yang, Paul

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  4. 4
    TUBGCP4 - associated microcephaly and chorioretinopathy

    TUBGCP4 - associated microcephaly and chorioretinopathy by Da Palma, Mariana Matioli, Motta, Fabiana Louise, Takitani, Guilherme Eiichi Da Silva, Salles, Mariana Vallim, Lima, Luiz Henrique, Ferraz Sallum, Juliana Maria

    Published in Ophthalmic genetics
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  5. 5
    Expanding the Phenotypic and Genotypic Spectrum of Bietti Crystalline Dystrophy

    Expanding the Phenotypic and Genotypic Spectrum of Bietti Crystalline Dystrophy by da Palma, Mariana Matioli, Motta, Fabiana Louise, Salles, Mariana Vallim, Texeira, Caio Henrique Marques, Gomes, André V., Casaroli-Marano, Ricardo, Sallum, Juliana Maria Ferraz

    Published in Genes
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  6. 6
    Retinal dystrophies and variants in PRPH2

    Retinal dystrophies and variants in PRPH2 by Palma, Mariana Matioli da, Martin, Daniel, Salles, Mariana Vallim, Motta, Fabiana Louise Teixeira, Abujamra, Suel, Sallum, Juliana Maria Ferraz

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  7. 7
    Variable expressivity of BEST1-associated autosomal dominant vitreoretinochoroidopathy (ADVIRC) in a three-generation pedigree

    Variable expressivity of BEST1-associated autosomal dominant vitreoretinochoroidopathy (ADVIRC) in a three-generation pedigree by da Palma, Mariana Matioli, Vargas, Maurício E, Burr, Amanda, Chen, Rui, Pennesi, Mark E, Weleber, Richard G, Yang, Paul

    Published in BMJ open ophthalmology
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  8. 8
    Rare disease day and Ophthalmology

    Rare disease day and Ophthalmology by Palma, Mariana Matioli da, Vasconcellos, Cecilia Francini Cabral de, Sallum, Juliana Maria Ferraz

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  9. 9
    Synonymous Variant in the CHM Gene Causes Aberrant Splicing in Choroideremia

    Synonymous Variant in the CHM Gene Causes Aberrant Splicing in Choroideremia by da Palma, Mariana Matioli, Motta, Fabiana Louise, Gomes, Caio Perez, Salles, Mariana Vallim, Pesquero, João Bosco, Sallum, Juliana Maria Ferraz

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  10. 10
    Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome

    Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome by da Palma, Mariana Matioli, Igelman, Austin D., Ku, Cristy, Burr, Amanda, You, Jia Yue, Place, Emily M., Wang, Nan-Kai, Oh, Jin Kyun, Branham, Kari E., Zhang, Xinxin, Ahn, Jeeyun, Gorin, Michael B., Lam, Byron L., Ronquillo, Cecinio C., Bernstein, Paul S., Nagiel, Aaron, Huckfeldt, Rachel, Cabrera, Michelle T., Kelly, John P., Bakall, Benjamin, Iannaccone, Alessandro, Hufnagel, Robert B., Zein, Wadih M., Koenekoop, Robert K., Birch, David G., Yang, Paul, Fahim, Abigail T., Pennesi, Mark E.

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  11. 11
    A patient with X-linked retinoschisis and exudative retinal detachment associated with a pathogenic hemizygous variant c.304c>T in RS1

    A patient with X-linked retinoschisis and exudative retinal detachment associated with a pathogenic hemizygous variant c.304c>T in RS1 by Tondelli, Nathália Nishiyama, Mencaroni, Beatriz Mello, Lemos, Carolina Maria Barbosa, Rocha de Sousa, Jefferson, Sandoval Barbosa, Gabriel Castilho, Gomes, André Marcelo Vieira, da Palma, Mariana Matioli

    Published in Ophthalmic genetics
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  12. 12
    Expanding the phenotypic and genotypic spectrum of patients with HGSNAT -related retinopathy

    Expanding the phenotypic and genotypic spectrum of patients with HGSNAT -related retinopathy by da Palma, Mariana Matioli, Marra, Molly, Igelman, Austin D, Ku, Cristy A, Burr, Amanda, Andersen, Katherine, Everett, Lesley A, Porto, Fernanda B O, Sallum, Juliana Maria Ferraz, Yang, Paul, Pennesi, Mark E

    Published in Ophthalmic genetics
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  13. 13
    Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome

    Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome by Igelman, Austin D, Ku, Cristy, da Palma, Mariana Matioli, Georgiou, Michalis, Schiff, Elena R, Lam, Byron L, Sankila, Eeva-Marja, Ahn, Jeeyun, Pyers, Lindsey, Vincent, Ajoy, Ferraz Sallum, Juliana Maria, Zein, Wadih M, Oh, Jin Kyun, Maldonado, Ramiro S, Ryu, Joseph, Tsang, Stephen H, Gorin, Michael B, Webster, Andrew R, Michaelides, Michel, Yang, Paul, Pennesi, Mark E

    Published in Ophthalmic genetics
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  14. 14
    A possible ocular biomarker for response to hyperornithinemia in gyrate atrophy: the effect of pyridoxine, lysine, and arginine-restricted diet in a patient with advanced disease

    A possible ocular biomarker for response to hyperornithinemia in gyrate atrophy: the effect of pyridoxine, lysine, and arginine-restricted diet in a patient with advanced disease by da Palma, Mariana Matioli, Ku, Cristy, Igelman, Austin D, Burr, Amanda, Shevchenko Sutherland, Liliya, Koerner, Celide, Valle, David, Pennesi, Mark E, Yang, Paul

    Published in Ophthalmic genetics
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  15. 15
    Improved Rod Sensitivity as Assessed by Two-Color Dark-Adapted Perimetry in Patients With RPE65-Related Retinopathy Treated With Voretigene Neparvovec-rzyl

    Improved Rod Sensitivity as Assessed by Two-Color Dark-Adapted Perimetry in Patients With RPE65-Related Retinopathy Treated With Voretigene Neparvovec-rzyl by Ku, Cristy A, Igelman, Austin D, Huang, Samuel J, Vasconcelos, Huber, da Palma, Mariana Matioli, Bailey, Steven T, Lauer, Andreas K, Weleber, Richard G, Yang, Paul, Pennesi, Mark E

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  16. 16
    Effect of Pharmacological Pupil Dilation on Dark-Adapted Perimetric Sensitivity in Healthy Subjects Using an Octopus 900 Perimeter

    Effect of Pharmacological Pupil Dilation on Dark-Adapted Perimetric Sensitivity in Healthy Subjects Using an Octopus 900 Perimeter by Igelman, Austin D, Ku, Cristy, Mershon, Sam, da Palma, Mariana Matioli, McAnany, J Jason, Hyde, Robert A, Park, Jason C, Yang, Paul, Pennesi, Mark E

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  17. 17
    A possible ocular biomarker for response to hyperornithinemia in gyrate atrophy: the effect of pyridoxine, lysine, and arginine-restricted diet in a patient with advanced disease

    A possible ocular biomarker for response to hyperornithinemia in gyrate atrophy: the effect of pyridoxine, lysine, and arginine-restricted diet in a patient with advanced disease by da Palma, Mariana Matioli, Ku, Cristy, Igelman, Austin D., Burr, Amanda, Shevchenko Sutherland, Liliya, Koerner, Celide, Valle, David, Pennesi, Mark E., Yang, Paul

    Published in Ophthalmic Genetics
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  18. 18
    A patient with X-linked retinoschisis and exudative retinal detachment associated with a pathogenic hemizygous variant c.304c>T in RS1

    A patient with X-linked retinoschisis and exudative retinal detachment associated with a pathogenic hemizygous variant c.304c>T in RS1 by Tondelli, Nathália Nishiyama, Mencaroni, Beatriz Mello, Lemos, Carolina Maria Barbosa, Rocha de Sousa, Jefferson, Sandoval Barbosa, Gabriel Castilho, Gomes, André Marcelo Vieira, da Palma, Mariana Matioli

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  19. 19
    Expanding the Phenotypic and Genotypic Spectrum of Bietti Crystalline Dystrophy

    Expanding the Phenotypic and Genotypic Spectrum of Bietti Crystalline Dystrophy by da Palma, Mariana Matioli, Motta, Fabiana Louise, Salles, Mariana Vallim, Texeira, Caio Henrique Marques, Gomes, André V, Casaroli-Marano, Ricardo, Sallum, Juliana Maria Ferraz

    Published in Genes
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  20. 20
    TUBGCP4 - associated microcephaly and chorioretinopathy

    TUBGCP4 - associated microcephaly and chorioretinopathy by Da Palma, Mariana Matioli, Motta, Fabiana Louise, Takitani, Guilherme Eiichi Da Silva, Salles, Mariana Vallim, Lima, Luiz Henrique, Ferraz Sallum, Juliana Maria

    Published in Ophthalmic Genetics
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