Management of genetic diseases: Present and future

Autor: Hugo Hernán Abarca Barriga, Milana Trubnykova, María del Carmen Castro Mujica

Publikováno v: Revista de la Facultad de Medicina Humana, Vol 21, Iss 2, Pp 399-416 (2021)

Today, the number of genetic diseases is around 10000 conditions, affecting to 6%-8% of all populations. This review shows us how the discovery of genetic variants in our genome, this facilitated to know with precision about the mechanisms physiopath

Externí odkaz: https://doaj.org/article/7928e03455b04186a646e4032a3ead66

MLPA followed by target‐NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB

Autor: María Luisa Guevara‐Fujita, Francia Huaman‐Dianderas, Daisy Obispo, Rodrigo Sánchez, Victor Barrenechea, Diana Rojas‐Málaga, Alejandro Estrada‐Cuzcano, Milana Trubnykova, Mario Cornejo‐Olivas, Victoria Marca, Bertha Gallardo, Milagros Dueñas‐Roque, Ana Protzel, Carlos Castañeda, Hugo Abarca, Luis Celis, Jorge La Serna‐Infantes, Ricardo Fujita

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 9, Iss 9, Pp n/a-n/a (2021)

Abstract Background We report the molecular analysis of the DMD gene in a group of Peruvian patients with Duchenne/Becker dystrophinopathy. This is the first study to thoroughly characterize mutations in this population. Methods We used the combinati

Externí odkaz: https://doaj.org/article/eb9689d258c04b929b47d0d45d2093fd

Chromosomal microarray analysis in peruvian children with delayed psychomotor development or intellectual disability

Autor: Hugo H. Abarca-Barriga, Miguel A. Chávez Pastor, Milana Trubnykova, Flor Vásquez, Julio A. Poterico

Publikováno v: Revista Peruana de Medicina Experimental y Salud Pública, Vol 34, Iss 3, Pp 572-4 (2017)

Externí odkaz: https://doaj.org/article/97bc512826294aeebe5ea2e0d10269af

A Pellino-2 variant is associated with constitutive NLRP3 inflammasome activation in a family with ocular pterygium–digital keloid dysplasia

Autor: Ileana Cristea, Hugo Abarca, Anne E. Christensen Mellgren, Milana Trubnykova, Roya Mehrasa, Dorien J. M. Peters, Gunnar Houge, Raoul C. M. Hennekam, Eyvind Rødahl, Ove Bruland, Cecilie Bredrup

Publikováno v: FEBS letters. Wiley-Blackwell

Ocular pterygium–digital keloid dysplasia (OPDKD) is a rare hereditary disease characterized by corneal ingrowth of vascularized conjunctival tissue early in life. Later, patients develop keloids on fingers and toes but are otherwise healthy. In a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::faae597b6f3f313d39dfd08051c7960c
https://pure.amc.nl/en/publications/a-pellino2-variant-is-associated-with-constitutive-nlrp3-inflammasome-activation-in-a-family-with-ocular-pterygiumdigital-keloid-dysplasia(d974df55-4334-45ef-bd49-50f070d4f84d).html

Tratamiento de las enfermedades genéticas: Presente y futuro

Autor: María del Carmen Castro Mujica, Milana Trubnykova, Hugo Hernán Abarca Barriga

Publikováno v: Revista de la Facultad de Medicina Humana, Vol 21, Iss 2, Pp 399-416 (2021)
Revista de la Facultad de Medicina Humana; Vol 21 No 2 (2021): Revista de la Facultad de Medicina Humana
Revista de la Facultad de Medicina Humana; Vol. 21 Núm. 2 (2021): Revista de la Facultad de Medicina Humana
Revistas Universidad Ricardo Palma
Universidad Ricardo Palma
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Today, the number of genetic diseases is around 10000 conditions, affecting to 6%-8% of all populations. This review shows us how the discovery of genetic variants in our genome, this facilitated to know with precision about the mechanisms physiopath

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba1f18d747c701dc87f1e8c8bdf80b11
http://revistas.urp.edu.pe/index.php/RFMH/article/view/3626