Výsledky vyhledávání - "Diana Ramírez-Montaño"

Akademický článek

Incidentalome in Neurogenetics: Pathogenic Variant of NSD1 in a Patient With Spinocerebellar Ataxia (SCA)

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

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[New variant in the ALG13 gene responsible for the congenital disorder of Is-type glycosylation in a male patient]

Autor: Diana, Ramírez-Montaño, Estephania, Candelo, Harry, Pachajoa

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

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Novel mutation in ABBC9 gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype [Corrigendum]

Autor: Harry Pachajoa, William López-Quintero, Sara Vanegas, Claudia Montoya, Diana Ramírez-Montaño

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

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