Genetic association with intravitreal ranibizumab response for neovascular age-related macular degeneration in Hispanic population

Autor: Francisco Jose Rodriguez, Hernan Andres Rios, María Camila Aguilar, Shirley Margarita Rosenstiehl, Nancy Gelvez, Greizy Lopez, Martha L Tamayo

Publikováno v: Taiwan Journal of Ophthalmology, Vol 9, Iss 4, Pp 243-248 (2019)

BACKGROUND/PURPOSE: Age-related macular degeneration (AMD) is the leading cause of visual impairment in patients over 55 years. Currently, the most common therapies for neovascular AMD (nAMD) are intravitreal antiangiogenics. Studies suggest that gen

Externí odkaz: https://doaj.org/article/b090e2bd2fd74c879271c735fc391027

Definición diagnóstica en una familia con malattia leventinese en Colombia

Autor: Anne Charlotte Brieke, Paula Hurtado-Villa, Silvia Florez, Francisco Rodríguez, Ana María Bertolotto, Martha L. Tamayo, Nancy Gelvez

Publikováno v: Biomédica: revista del Instituto Nacional de Salud, Vol 41, Iss 3, Pp 388-395 (2021)
Biomédica

The malattia leventinese is an autosomal dominant inherited disease whose symptoms appear between the second and fourth decades of life. It is characterized by the appearance of drusen located between the retinal pigment epithelium and the Bruch memb

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61bbacee4f5b6c81ad067a243e49fb52
https://revistabiomedica.org/index.php/biomedica/article/view/5604

Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action

Autor: Claudia Stefanutti, Myra Tilney, Mutaz Alkhnifsawi, Carlos A. Aguilar-Salinas, Jean-Luc Eiselé, Raul D. Santos, Pedro Mata, Gloria Hastings, Gerald F. Watts, Inge Schalkers, Sarah D. de Ferranti, Francesco Fuggetta, Daniel Soffer, Brian Tomlinson, Rodrigo Alonso, Tania Leme da Rocha Martinez, Rody G. Sy, Maria Cristina de Oliveira Izar, Atsushi Nohara, Ákos G Gesztes, Laura Schreier, Nanette K. Wenger, Aram Zegerius, Leiv Ose, Letrillart Marion, David Marais, André R. Miserez, Lina Badimon, Ian Hamilton-Craig, Martin Prøven Bogsrud, Roopa Mehta, Stephen J. Nicholls, Lale Tokgozoglu, Samuel S. Gidding, Amy L. Peterson, Mariko Harada-Shiba, Sue Koob, Jules Payne, Emanuela Folco, Raman Puri, Meral Kayıkçıoğlu, Martha L. Tamayo, Michael D. Shapiro, David S. Wald, Børge G. Nordestgaard, Inese Maurina, Kristyna Cillíková, Antonio J. Vallejo-Vaz, Gerardo Elikir, Masahiro Koseki, Diana Maxwell, Ashraf Reda, Gunnar N Karlsson, Jasmine Patel, Lynne T. Braun, Greizy López, Jing Pang, Marcos M. Lima-Martínez, Urh Groselj, G. Kees Hovingh, Kausik K. Ray, Stacey R. Lane, Eric J.G. Sijbrands, Darien Wood, I.M. Gaspar, Pablo Corral, Alberico L. Catapano, Alejandra Vázquez-Cárdenas, Khalid Al-Rasadi, Luz M Bernal, Allison Jamison, Wael Almahmeed, Catherine D. Ahmed, Joep C. Defesche, Olivier S. Descamps, Tomáš Freiberger, Athanasios Pallidis, Dermot Neely, Gabriele Hanauer-Mader, Tiziana Sampietro, Liam R. Brunham, Patrícia Vieira de Luca, Mario Stoll, Michaela Wolf, Monica P Popescu, Regina Cuevas, Thomas A. Gaziano, George A. Mensah, Katherine Wilemon

Publikováno v: JAMA Cardiology, 5(2), 217-229. American Medical Association
Wilemon, K A, Patel, J, Aguilar-Salinas, C, Ahmed, C D, Alkhnifsawi, M, Almahmeed, W, Alonso, R, Al-Rasadi, K, Badimon, L, Bernal, L M, Bogsrud, M P, Braun, L T, Brunham, L, Catapano, A L, Čillíková, K, Corral, P, Cuevas, R, Defesche, J C, Descamps, O S, De Ferranti, S, Eiselé, J L, Elikir, G, Folco, E, Freiberger, T, Fuggetta, F, Gaspar, I M, Gesztes, Á G, Grošelj, U, Hamilton-Craig, I, Hanauer-Mader, G, Harada-Shiba, M, Hastings, G, Hovingh, G K, Izar, M C, Jamison, A, Karlsson, G N, Kayikçioǧlu, M, Koob, S, Koseki, M, Lane, S, Lima-Martinez, M M, López, G, Martinez, T L, Marais, D, Marion, L, Mata, P, Maurina, I, Maxwell, D, Mehta, R, Nordestgaard, B G & Global Familial Hypercholesterolemia Community 2020, ' Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia : A Global Call to Action ', JAMA Cardiology, vol. 5, no. 2, pp. 217-229 . https://doi.org/10.1001/jamacardio.2019.5173

ImportanceFamilial hypercholesterolemia (FH) is an underdiagnosed and undertreated genetic disorder that leads to premature morbidity and mortality due to atherosclerotic cardiovascular disease. Familial hypercholesterolemia affects 1 in 200 to 250 p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94f68755387d1d8493ed31ed5cf8c1a0
https://pubmed.ncbi.nlm.nih.gov/32186650

Mutational analysis of the LDLR gene in a cohort of Colombian families with familial hypercholesterolemia

Autor: Luisa Fernanda Gómez, Luz Mery Bernal, Ana Isabel Sánchez, Alejandra Nova, Greizy López, Martha L. Tamayo, Nancy Gelvez

Publikováno v: Atherosclerosis. 277

Background and aims Familial hypercholesterolemia (FH) is characterized by elevated serum cholesterol levels due to high low-density lipoprotein (LDL) cholesterol levels. FH is an autosomal dominant genetic disorder and one of the most common dominan

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ff3bea44a2ddb06d8798e7b50ec1bac
https://pubmed.ncbi.nlm.nih.gov/30270082