Association of genetic variants rs641153 ( CFB ), rs2230199 ( C3 ), and rs1410996 ( CFH ) with age-related macular degeneration in a Brazilian population.

Autor: Neto JM; Department of Ophthalmology, Faculty of Medical Sciences - University of Campinas - Campinas, SP 13083-887, Brazil., Viturino MG; Department of Ophthalmology, Faculty of Medical Sciences - University of Campinas - Campinas, SP 13083-887, Brazil., Ananina G; Laboratory of Human Genetics, Center for Molecular Biology and Genetic Engineering (CBMEG) - University of Campinas - Campinas, SP 13083-875, Brazil., Bajano FF; Laboratory of Human Genetics, Center for Molecular Biology and Genetic Engineering (CBMEG) - University of Campinas - Campinas, SP 13083-875, Brazil., Costa SMDS; Laboratory of Human Genetics, Center for Molecular Biology and Genetic Engineering (CBMEG) - University of Campinas - Campinas, SP 13083-875, Brazil., Roque AB; Department of Ophthalmology, Faculty of Medical Sciences - University of Campinas - Campinas, SP 13083-887, Brazil., Borges GF; Department of Ophthalmology, Faculty of Medical Sciences - University of Campinas - Campinas, SP 13083-887, Brazil., Franchi R; Laboratory of Human Genetics, Center for Molecular Biology and Genetic Engineering (CBMEG) - University of Campinas - Campinas, SP 13083-875, Brazil., Rim PH; Department of Ophthalmology, Faculty of Medical Sciences - University of Campinas - Campinas, SP 13083-887, Brazil., Medina FM; Department of Ophthalmology, Faculty of Medical Sciences, University of State of Rio de Janeiro - Rio de Janeiro, RJ 20551-030, Brazil., Costa FF; Hematology and Hemotherapy Center - University of Campinas - Campinas, SP 13083-878, Brazil., Melo MB; Laboratory of Human Genetics, Center for Molecular Biology and Genetic Engineering (CBMEG) - University of Campinas - Campinas, SP 13083-875, Brazil., de Vasconcellos JP; Department of Ophthalmology, Faculty of Medical Sciences - University of Campinas - Campinas, SP 13083-887, Brazil.

Publikováno v: Experimental biology and medicine (Maywood, N.J.) [Exp Biol Med (Maywood)] 2021 Nov; Vol. 246 (21), pp. 2290-2296. Date of Electronic Publication: 2021 Jul 07.

Evaluation of CFH Y402H polymorphism and CFHR3/CFHR1 deletion in age-related macular degeneration patients from Brazil.

Autor: Dezidério Sacconi DP; a Laboratory of Human Genetics , Center of Molecular Biology and Genetic Engineering, University of Campinas , Campinas , SP , Brazil., Cabral de Vasconcellos JP; b Department of Ophthalmology, Faculty of Medical Sciences , University of Campinas , Campinas , SP , Brazil., Endo Hirata F; b Department of Ophthalmology, Faculty of Medical Sciences , University of Campinas , Campinas , SP , Brazil., MacCord Medina F; b Department of Ophthalmology, Faculty of Medical Sciences , University of Campinas , Campinas , SP , Brazil., Rim PH; b Department of Ophthalmology, Faculty of Medical Sciences , University of Campinas , Campinas , SP , Brazil., Barbosa de Melo M; a Laboratory of Human Genetics , Center of Molecular Biology and Genetic Engineering, University of Campinas , Campinas , SP , Brazil.

Publikováno v: Ophthalmic genetics [Ophthalmic Genet] 2016 Dec; Vol. 37 (4), pp. 459-461. Date of Electronic Publication: 2016 Mar 04.

Ocular findings in Brazilian identical twins with Cohen syndrome: case report.

Autor: Rim PH; Departament of Ophthalmo/Otorhinolaringology, Universidade Estadual de Campinas, Campinas, SP, Brazil. priscilarim@uol.com.br, Figueirêdo ES, Hirata FE, Steiner CE, Marques-de-Faria AP

Publikováno v: Arquivos brasileiros de oftalmologia [Arq Bras Oftalmol] 2009 Nov-Dec; Vol. 72 (6), pp. 815-8.

Ophthalmic aspects of GAPO syndrome: case report and review.

Autor: Rim PH; Departamento de Oftalmo-Otorrinolaringologia, Universidade Estadual de Campinas, São Paulo, Brazil. priscilarim@uol.com.br, Marques-de-Faria AP

Publikováno v: Ophthalmic genetics [Ophthalmic Genet] 2005 Sep; Vol. 26 (3), pp. 143-7.