Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Diana Ramírez-Montaño"'
Autor:
Harvy Velasco, Diana Ramírez-Montaño
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
Background: Genetic studies of late-onset sporadic ataxias (>40 years of age) are not routinely indicated. For unresolved cases, next-generation sequencing (NGS) tools, such as whole-exome sequencing (WES), are available for a definitive diagnosis.Ca
Externí odkaz:
https://doaj.org/article/33c843e0cce84ec98c6ad48c591284b8
Autor:
Neus Martínez Abadías, Luis Miguel Echeverry, Eidith Gómez, Paula Solís, Estephania Candelo, Diana Ramírez‐Montaño, Diana Ortiz, Alejandro González, Xavier Sevillano, Juan Carlos Cuéllar, Harry Pachajoa
Publikováno v:
The FASEB Journal. 36
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1b4fded291d7539e342fc33df2cefe78
https://doi.org/10.1096/fasebj.2022.36.s1.r5134
https://doi.org/10.1096/fasebj.2022.36.s1.r5134
Publikováno v:
Andes pediatrica : revista Chilena de pediatria. 92(5)
Congenital disorders of glycosylation (CDGs) are a group of inborn errors of glycan metabolism with multi-systemic manifestations. More than 100 different types of CDGs have been reported. The form involving the asparagine-linked glycosylation 13 (AL
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fd336e2757d228390c9561fe3c22d070
https://pubmed.ncbi.nlm.nih.gov/35319586
https://pubmed.ncbi.nlm.nih.gov/35319586
Publikováno v:
The Application of Clinical Genetics. 11:75-76
Pachajoa H, López-Quintero W, Vanegas S, Montoya CL, Ramírez-Montaño D. The Application of Clinical Genetics. 2018;11:15–21.In the main title (page 15) and in the first column, third row of Table 1 (page 17), the gene name ABBC9 should be ABCC9.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29b95827732b4a102a477483170c589f
https://doi.org/10.2147/tacg.s170250
https://doi.org/10.2147/tacg.s170250
Autor:
Mario Angulo, Diana Ramirez-Montaño, Laura Torres-Canchala, Ximena García, Rodrigo Lemus, Ana M. Aristizabal, Danielle Floyd-Aristizábal, Diana M. Dávalos, Lorena Diaz-Ordoñez, Harry Pachajoa
Publikováno v:
JCRPE, Vol 13, Iss 2, Pp 136-145 (2021)
Objective:In small for gestational age (SGA) children, catch-up growth could be influenced by methylation of several genes involved in metabolism. Epigenetics may influence the development of metabolic diseases in adulthood. To compare the methylatio
Externí odkaz:
https://doaj.org/article/0458e334fd4645aea5fbe35034131f9b
Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report
Publikováno v:
Iranian Journal of Medical Sciences, Vol 44, Iss 4, Pp 347-353 (2019)
Rett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutatio
Externí odkaz:
https://doaj.org/article/b365bc4993ae40f4a51a3f0d1926cbaa
Autor:
Lorena Díaz-Ordoñez, Diana Ramirez-Montaño, Estephania Candelo, Santiago Cruz, Harry Pachajoa
Publikováno v:
Iranian Journal of Medical Sciences, Vol 44, Iss 3, Pp 257-261 (2019)
Mutations in the AHDC1 gene are associated with the Xia-Gibbs syndrome (XGS), a sporadic genetic disorder characterised by developmental delay, intellectual disability, hypotonia, obstructive sleep apnoea, dysmorphic facial features, and cerebral mal
Externí odkaz:
https://doaj.org/article/e6561b4b80974265b2cf6f49173b7880
Autor:
Estephania Candelo, Ana Maria Sanz, Diana Ramirez-Montaño, Lorena Diaz-Ordoñez, Ana Maria Granados, Fernando Rosso, Julian Nevado, Pablo Lapunzina, Harry Pachajoa
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
IntroductionFlaviviridae family belongs to the Spondweni serocomplex, which is mainly transmitted by vectors from the Aedes genus. Zika virus (ZIKV) is part of this genus. It was initially reported in Brazil in December 2014 as an unknown acute gener
Externí odkaz:
https://doaj.org/article/28a0456ef58c4753852559ca5fae02c4
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
Background: Prader–Willi-like syndrome (PWLS) is believed to be caused by a variety of disruptions in genetic pathways both inside and outside of the genetic region implicated in PWS. By definition, PWLS does not demonstrate mutations in the 15q11
Externí odkaz:
https://doaj.org/article/16972d44549848baa34bea4e599db67b