Ampliando el fenotipo del síndrome FOXG1

Autor: E. Candelo, G. Caicedo, H. Pachajoa

Publikováno v: Neurología, Vol 35, Iss 3, Pp 207-211 (2020)

Externí odkaz: https://doaj.org/article/bdf2bd04818445d2b176b8e173079fc0

Expanding FOXG1 syndrome phenotype

Autor: Estephania Candelo, Harry Pachajoa, G. Caicedo

Publikováno v: Neurología (English Edition), Vol 35, Iss 3, Pp 207-211 (2020)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::793911067bbfdd77293618cfaff8d216
https://doi.org/10.1016/j.nrleng.2017.09.012

Microcephaly in Colombia before the Zika outbreak: A systematic literature review

Autor: G. Caicedo, Max M. Feinstein, Harry Pachajoa, Estephania Candelo

Publikováno v: Biomédica, Volume: 38 Supplement 2, Pages: 127-134, Published: AUG 2018
Biomédica: revista del Instituto Nacional de Salud, Vol 38, Iss 0, Pp 127-134 (2018)

Introduction: Microcephaly is characterized by a smaller than normal head circumference. Recently, Zika virus (ZV) has been associated with microcephaly. Objective: To describe the prevalence of microcephaly in Colombia taking as the baseline the inf

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37ade6ca0c93c0c48dc5a767ceeb5123
https://doi.org/10.7705/biomedica.v38i0.4413

First report case with negative genetic study (array CGH, exome sequencing) in patients with vertical transmission of Zika virus infection and associated brain abnormalities

Autor: Jaime Orrego, Pablo Lapunzina, Fernando Rosso, Julián Nevado, Harry Pachajoa, Adriana Ballesteros, G. Caicedo, Luis Enrique Meza Escobar, Estephania Candelo

Publikováno v: The Application of Clinical Genetics

Estephania Candelo,1,2 Gabriela Caicedo,1 Fernando Rosso,3 Adriana Ballesteros,4 Jaime Orrego,4 Luis Escobar,5 Pablo Lapunzina,6,7 Julían Nevado,6,7 Harry Pachajoa1,81Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Department

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ed9d970ad3845034fe1171dbb63104e
https://pubmed.ncbi.nlm.nih.gov/31440073

Síndrome de microdeleción 17P13.3 sin afectación del gen PAFAH1B1

Autor: Estephania Candelo, L. Mejia, G. Caicedo, Harry Pachajoa

Publikováno v: Neurología.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f1cf56bbf09dac767075faf460f6998