Works by Sallum, Juliana M.

Results: 17

Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review.

Published in:

2022

By:

Sallum, Juliana M. F.;
Kaur, Vinay Preet;
Shaikh, Javed;
Banhazi, Judit;
Spera, Claudio;
Aouadj, Celia;
Viriato, Daniel;
Fischer, M. Dominik

Publication type:

journal article

Characterization of Retinal Architecture in Spinocerebellar Ataxia Type 3 and Correlation with Disease Severity.

Published in:

Movement Disorders, 2022, v. 37, n. 4, p. 758, doi. 10.1002/mds.28893

By:

Rezende Filho, Flávio Moura;
Jurkute, Neringa;
de Andrade, João Brainer Clares;
Marianelli, Bruna Ferraço;
Ferraz Sallum, Juliana M.;
Yu‐Wai‐Man, Patrick;
Barsottini, Orlando G.;
Pedroso, José Luiz

Publication type:

Article

Association of age and macular pigment optical density using dual-wavelength autofluorescence imaging.

Published in:

Clinical Ophthalmology, 2013, v. 7, p. 685, doi. 10.2147/OPTH.S42549

By:

Lima, Verônica Castro;
Rosen, Richard B.;
Prata, Tiago Santos;
Dorairaj, Syril;
Spielberg, Leigh;
Maia, Mauricio;
Sallum, Juliana M.

Publication type:

Article

Molecular and Clinical Characterization of CNGA3 and CNGB3 Genes in Brazilian Patients Affected with Achromatopsia.

Published in:

Genes, 2023, v. 14, n. 6, p. 1296, doi. 10.3390/genes14061296

By:

Amaral, Rebeca A. S.;
Motta, Fabiana L.;
Zin, Olivia A.;
da Palma, Mariana M.;
Rodrigues, Gabriela D.;
Sallum, Juliana M. F.

Publication type:

Article

Novel Mutation in CRYBB3 Causing Pediatric Cataract and Microphthalmia.

Published in:

Genes, 2021, v. 12, n. 7, p. 1069, doi. 10.3390/genes12071069

By:

Zin, Olivia A.;
Neves, Luiza M.;
Motta, Fabiana L.;
Horovitz, Dafne D. G.;
Guida, Leticia;
Gomes, Leonardo H. F.;
Cunha, Daniela P.;
Rodrigues, Ana Paula S.;
Zin, Andrea A.;
Sallum, Juliana M. F.;
Vasconcelos, Zilton F. M.

Publication type:

Article

Pathogenicity Reclasssification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy.

Published in:

Genes, 2020, v. 11, n. 1, p. 24, doi. 10.3390/genes11010024

By:

Motta, Fabiana L.;
Martin, Renan P.;
Porto, Fernanda B. O.;
Wohler, Elizabeth S.;
Resende, Rosane G.;
Gomes, Caio P.;
Pesquero, João B.;
Sallum, Juliana M. F.

Publication type:

Article

Genotypic–Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 15, p. 11876, doi. 10.3390/ijms241511876

By:

Zin, Olivia A.;
Neves, Luiza M.;
Cunha, Daniela P.;
Motta, Fabiana L.;
Agonigi, Bruna N. S.;
Horovitz, Dafne D. G.;
Almeida Jr., Daltro C.;
Malacarne, Jocieli;
Rodrigues, Ana Paula S.;
Carvalho, Adriana B.;
Rivello, Cinthia A.;
Espariz, Rita;
Zin, Andrea A.;
Sallum, Juliana M. F.;
Vasconcelos, Zilton F. M.

Publication type:

Article

RNA-based therapies in inherited retinal diseases.

Published in:

Therapeutic Advances in Ophthalmology, 2022, v. 14, p. 1, doi. 10.1177/25158414221134602

By:

Girach, Aniz;
Audo, Isabelle;
Birch, David G.;
Huckfeldt, Rachel M.;
Lam, Byron L.;
Leroy, Bart P.;
Michaelides, Michel;
Russell, Stephen R.;
Sallum, Juliana M. F.;
Stingl, Katarina;
Tsang, Stephen H.;
Yang, Paul

Publication type:

Article

Posterior microphthalmos with retinal involvement related to MFRP gene: a report of 10 Brazilian patients.

Published in:

Ophthalmic Genetics, 2024, v. 45, n. 4, p. 413, doi. 10.1080/13816810.2024.2322650

By:

Amaral, Rebeca A. S.;
Zin, Olivia A.;
Moraes, Remo T.;
Porto, Fernanda B. O.;
Carricondo, Pedro C.;
Pimentel, Sergio L. G.;
Kestelman, Bernardo P.;
Watanabe, Sung E. S.;
Sallum, Juliana M. F.

Publication type:

Article

The first gene therapy for RPE65 biallelic dystrophy with voretigene neparvovec-rzyl in Brazil.

Published in:

Ophthalmic Genetics, 2022, v. 43, n. 4, p. 550, doi. 10.1080/13816810.2022.2053995

By:

Ferraz Sallum, Juliana M.;
Godoy, Juliana;
Kondo, Andrea;
Kutner, Jose Mauro;
Vasconcelos, Huber;
Maia, Andre

Publication type:

Article

Progressive expansion of the hyperautofluorescent ring in cone-rod dystrophy patients.

Published in:

Ophthalmic Genetics, 2018, v. 39, n. 4, p. 492, doi. 10.1080/13816810.2018.1461911

By:

Lima, Luiz H.;
Zett, Claudio;
Kniggendorf, Vinícius;
Marianelli, Bruna;
de Carvalho, Ricardo A. P.;
Farah, Michel E.;
Sallum, Juliana M. F.

Publication type:

Article

Posterior Polar Cataract: Genetic Analysis of a Large Family.

Published in:

Ophthalmic Genetics, 2005, v. 26, n. 3, p. 125, doi. 10.1080/13816810500229124

By:

Finzi, Simone;
Li, Yingying;
Mitchell, Thomas N.;
Farr, Arman;
Maumenee, Irene H.;
Sallum, Juliana M. F.;
Sundin, Olof

Publication type:

Article

Lack of association between the 5-HTTLPR and positive screening for mental disorders among children exposed to urban violence and maltreatment.

Published in:

Brazilian Journal of Psychiatry / Revista Brasileira de Psiquiatria, 2014, v. 36, n. 4, p. 277, doi. 10.1590/1516-4446-2013-1150

By:

Cividanes, Giuliana C.;
Mello, Andrea F.;
Sallum, Juliana M.;
Fossaluza, Victor;
de Medeiros, Marcio;
Maciel, Mariana R.;
Cavalcante-Nóbrega, Luciana P.;
Mari, Jair J.;
Mello, Marcelo F.;
Valente, Nina L.

Publication type:

Article

Spectral-Domain Optical Coherence Tomography for Macular Edema.

Published in:

Scientific World Journal, 2014, p. 1, doi. 10.1155/2014/191847

By:

Badaró, Emmerson;
Novais, Eduardo;
Prodocimo, Larissa Maria;
Sallum, Juliana M. Ferraz

Publication type:

Article

Ophthalmic genetics in South America.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 753, doi. 10.1002/ajmg.c.31832

By:

Daich Varela, Malena;
Moya, Rene;
Schlottmann, Patricio G.;
Hufnagel, Robert B.;
Arberas, Claudia;
Fernández, Federico M.;
Inga, M. Eugenia;
Lores, Juliana;
Pachajoa, Harry;
Prada, Carlos E.;
Sallum, Juliana M. Ferraz

Publication type:

Article

Genotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and Brazil.

Published in:

PLoS ONE, 2015, v. 10, n. 5, p. 1, doi. 10.1371/journal.pone.0127147

By:

de Melo, Mônica Barbosa;
Mandal, Anil K.;
Tavares, Ivan M.;
Ali, Mohammed Hasnat;
Kabra, Meha;
de Vasconcellos, José Paulo Cabral;
Senthil, Sirisha;
Sallum, Juliana M. F.;
Kaur, Inderjeet;
Betinjane, Alberto J.;
Moura, Christiane R.;
Paula, Jayter S.;
Costa, Karita A.;
Sarfarazi, Mansoor;
Paolera, Mauricio Della;
Finzi, Simone;
Ferraz, Victor E. F.;
Costa, Vital P.;
JrBelfort, Rubens;
Chakrabarti, Subhabrata

Publication type:

Article

Genotype–Phenotype Correlations of Nance–Horan Syndrome in Male and Female Carriers of a Novel Variant.

Published in:

Genes, 2025, v. 16, n. 1, p. 91, doi. 10.3390/genes16010091

By:

Zin, Olivia A.;
Neves, Luiza M.;
Motta, Fabiana L.;
Junior, Daltro C.;
Cunha, Daniela P.;
Agonigi, Bruna N. S.;
Malacarne, Jocieli;
Rodrigues, Ana Paula S.;
Rodrigues, Gabriela D.;
Tinoco, Maria Luisa C.;
Horovitz, Dafne D. G.;
Carvalho, Adriana B.;
Zin, Andrea A.;
Vasconcelos, Zilton F. M.;
Sallum, Juliana M. Ferraz

Publication type:

Article