Mariana Matioli da Palma (Mariana M da Palma, Mariana Matioli Da Palma)

ORCID

Publication Activity (10 Years)

Years Active: 2020-2023
Publications (10 Years): 11

Top Venues

Ophthalmic genetics

Genes

Gene therapy

BMJ open ophthalmology

Universidade Federal de Juiz de Fora (PHD)

This page only lists publications with an associated author ORCID identifier.

Education History

Universidade Federal de Juiz de Fora Aug 01 2003 - Jul 23 2009

Brazil

PHD

Publications

Nathália Nishiyama Tondelli, Beatriz Mello Mencaroni, Carolina Maria Barbosa Lemos, Jefferson Rocha de Sousa, Gabriel Castilho Sandoval Barbosa, André Marcelo Vieira Gomes, Mariana Matioli da Palma
A patient with X-linked retinoschisis and exudative retinal detachment associated with a pathogenic hemizygous variant c.304c>T in RS1 . Ophthalmic genetics 43 (6) (2023)
Mariana Matioli da Palma, Molly Marra, Austin D Igelman, Cristy A Ku, Amanda Burr, Katherine Andersen, Lesley A Everett, Fernanda Belga Ottoni Porto, Juliana Maria Ferraz Sallum, Paul Yang, Mark E Pennesi
Expanding the phenotypic and genotypic spectrum of patients with HGSNAT -related retinopathy. Ophthalmic genetics (2023)
Nathália Nishiyama Tondelli, Beatriz Mello Mencaroni, Carolina Maria Barbosa Lemos, Jefferson Rocha de Sousa, Gabriel Castilho Sandoval Barbosa, André Marcelo Vieira Gomes, Mariana Matioli da Palma
A patient with X-linked retinoschisis and exudative retinal detachment associated with a pathogenic hemizygous variant c.304c>T in RS1 . Ophthalmic genetics 43 (6) (2023)
Karen E Lee, Jose S Pulido, Mariana Matioli da Palma, Rebecca Procopio, Robert B Hufnagel, Margaret Reynolds
A Comprehensive Report of Intrinsically Disordered Regions in Inherited Retinal Diseases. Genes 14 (8) (2023)
Mariana Matioli da Palma, Cristy Ku, Austin D Igelman, Amanda Burr, Liliya Shevchenko Sutherland, Celide Koerner, David Valle, Mark E Pennesi, Paul Yang
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. Ophthalmic genetics (2022)
Mariana Matioli da Palma, Maurício E Vargas, Amanda Burr, Rui Chen, Mark E Pennesi, Richard G Weleber, Paul Yang
Variable expressivity of BEST1-associated autosomal dominant vitreoretinochoroidopathy (ADVIRC) in a three-generation pedigree. BMJ open ophthalmology 6 (1) (2021)
Mariana Matioli da Palma, Fabiana Louise Motta, Mariana Vallim Salles, Caio Henrique Marques Texeira, André V Gomes, Ricardo-Pedro Casaroli-Marano, Juliana Maria Ferraz Sallum
Expanding the Phenotypic and Genotypic Spectrum of Bietti Crystalline Dystrophy. Genes 12 (5) (2021)
Austin D Igelman, Cristy Ku, Mariana Matioli da Palma, Michalis Georgiou, Elena R Schiff, Byron L Lam, Eeva-Marja Sankila, Jeeyun Ahn, Lindsey Pyers, Ajoy Vincent, Juliana Maria Ferraz Sallum, Wadih M Zein, Jin Kyun Oh, Maldonado Ramiro S, Joseph Ryu, Stephen H Tsang, Michael B Gorin, Andrew R Webster, Michel Michaelides, Paul Yang, Mark E Pennesi
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome. Ophthalmic genetics 42 (6) (2021)
Brittni A Scruggs, Huber Martins Vasconcelos, Mariana Matioli da Palma, Katie Kogachi, Mark E Pennesi, Paul Yang, Steven T Bailey, Andreas K Lauer
Injection pressure levels for creating blebs during subretinal gene therapy. Gene therapy (2021)
Mariana Matioli da Palma, Cecilia Francini Cabral de Vasconcellos, Juliana Maria Ferraz Sallum
Rare disease day and Ophthalmology. Arquivos brasileiros de oftalmologia 84 (4) (2021)
Mariana Matioli da Palma, Fabiana Louise Motta, Guilherme Eiichi Da Silva Takitani, Mariana Vallim Salles, Luiz Henrique Lima, Juliana Maria Ferraz Sallum
TUBGCP4 - associated microcephaly and chorioretinopathy. Ophthalmic genetics 41 (2) (2020)

Mariana Matioli da Palma (Mariana M da Palma, Mariana Matioli Da Palma)

Publication Activity (10 Years)

Top Topics

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