Ocular alterations, molecular findings, and three novel pathological mutations in a series of NF2 patients

Autor: Luciana Bastos-Rodrigues, Márcio Bittar Nehemy, Luiz Oswaldo Carneiro Rodrigues, Débora Marques de Miranda, Vanessa Waisberg

Publikováno v: Graefe's Archive for Clinical and Experimental Ophthalmology. 257:1453-1458

To evaluate ophthalmological and molecular findings in eight patients with a clinical diagnosis of neurofibromatosis type 2 (NF2). New pathological mutations are described and variability in the ophthalmic phenotype and NF2 allelic heterogeneity are

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b78ec9c7eea1b8a3b61de651b5cd3d8
https://doi.org/10.1007/s00417-019-04348-5

Neurofibromatosis: part 2 – clinical management

Autor: Eric Grossi Morato, Hérika Martins Mendes, Nilton Alves de Rezende, Juliana Ferreira de Souza, Aline Stangherlin Martins, Eny Maria Goloni Bertollo, Pollyanna Barros Batista, Lucas Eliam, Vanessa Waisberg, Luciana Baptista Pereira, Eugênia Ribeiro Valadares, Yehuda Waisberg, Ingrid Faria Gianordoli-Nascimento, Luíza de Oliveira Rodrigues, Nikolas Andre Mata-Machado, Jorge Bezerra Cavalcanti Sette, Mauro Geller, Érika Cristina Pavarino, Luiz Oswaldo Carneiro Rodrigues, Luciana Gonçalves Madeira, Paula Vieira Teixeira Vidigal, Débora Marques de Miranda, Marcio Leandro Ribeiro de Souza, Karin Soares Gonçalves Cunha, Luiz Guilherme Darrigo Junior, Carla Menezes da Silva, José Renan Cunha-Melo, Danielle de Souza Costa

Publikováno v: Arquivos de Neuro-Psiquiatria, Vol 73, Iss 6, Pp 531-543 (2015)
Arquivos de Neuro-Psiquiatria, Volume: 73, Issue: 6, Pages: 531-543, Published: JUN 2015

Part 1 of this guideline addressed the differential diagnosis of the neurofibromatoses (NF): neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH). NF shares some features such as the genetic origin of the neural tu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cbbf6f50837b3db0b0c6a8ea08dad07
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2015000600531&lng=en&tlng=en

Estrabismo restritivo adquirido na infância associado à neurofibromatose tipo 2

Autor: Luiz Oswaldo Carneiro Rodrigues, Galton Carvalho Vasconcelos, Juliana Ferreira de Souza, Ana Rosa Pimentel de Figueiredo, Débora Marques de Miranda, Vanessa Waisberg

Publikováno v: Arquivos Brasileiros de Oftalmologia, Vol 79, Iss 2, Pp 132-132 (2016)
Arquivos Brasileiros de Oftalmologia, Volume: 79, Issue: 2, Pages: 132-132, Published: APR 2016

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83e5343c728943e3d6811e6e25e546f6
https://doi.org/10.5935/0004-2749.20160041

Reação orbitopalpebral em resposta a injeção subtenoniana profunda de triancinolona: relato de caso

Autor: Mariangela Moura, Vanessa Waisberg, Yehuda Waisberg, Rogério Rocha Lacerda

Publikováno v: Arquivos Brasileiros de Oftalmologia. 72:394-396

A case of a local reaction related to a subtenonian deep injection of triamcinolone is reported. The patient was a 6 year old child, with intermediate uveitis. Intense edema and erythema of the eyelids appeared approximately 30 minutes after the inje

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8b70db7f74b2c68f9582b804cf38b0fa
https://doi.org/10.1590/s0004-27492009000300023

[Orbito-palpebral reaction after subtenonian injection of triamcinolone: case report]

Autor: Yehuda, Waisberg, Mariangela, Moura, Vanessa, Waisberg, Rogério Rocha, Lacerda

Publikováno v: Arquivos brasileiros de oftalmologia. 72(3)

A case of a local reaction related to a subtenonian deep injection of triamcinolone is reported. The patient was a 6 year old child, with intermediate uveitis. Intense edema and erythema of the eyelids appeared approximately 30 minutes after the inje

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::fdfe1f9cd96d23a9dc01ad52a7686851
https://pubmed.ncbi.nlm.nih.gov/19668975