Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Jose Antonio Nastasi-Catanese"'
Autor:
Lisa Ximena Rodriguez-Rojas, Estephania Candelo, Harry Pachajoa, Juan Esteban Garcia-Robledo, Jose Antonio Nastasi-Catanese, Jorge Andres Olave-Rodriguez, Angela R Zambrano
Publikováno v:
The Application of Clinical Genetics.
Lisa Ximena Rodriguez-Rojas,1,2 Estephania Candelo,3,4 Harry Pachajoa,1,2,4 Juan Esteban Garcia-Robledo,3 Jose Antonio Nastasi-Catanese,1,2 Jorge Andres Olave-Rodriguez,2 Angela R Zambrano5 1Department of Human Genetics, Fundación Valle del Lili,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab0c083dc1fcbf81d2fab81e28310498
https://www.dovepress.com/the-unique-spectrum-of-mutyh-germline-mutations-in-colombian-patients--peer-reviewed-fulltext-article-TACG
https://www.dovepress.com/the-unique-spectrum-of-mutyh-germline-mutations-in-colombian-patients--peer-reviewed-fulltext-article-TACG
Autor:
Estephania Candelo, Akemi Arango, Daniela Franco, Ana M Granados, Lorena Diaz-Ordoñez, Marisol Aguirre, Lisa Ximena Rodriguez, Jose Antonio Nastasi-Catanese, Andres Cuervo, Harry Pachajoa
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) (OMIM:540000) is one of the most frequent mitochondrial maternal inheritance disorders. MELAS syndrome involves multiple organs, which generates a broad spectrum of ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c553511e23d7028a4b6b3c9816e36da1
https://doi.org/10.21203/rs.3.rs-2539495/v1
https://doi.org/10.21203/rs.3.rs-2539495/v1
Autor:
José María Satizábal, Lina J. Moreno, Harry Pachajoa, Lorena Díaz-Ordoñez, Carlos E. Prada, Harvy Velasco, Yiseth Katherine Silva, Gloria Porras, Carlos J. Alméciga-Díaz, Maria Amparo Acosta, Jose Antonio Nastasi-Catanese, Diana Ramirez-Montaño, Yoseth Ariza, Estephania Candelo, Natalia García, Jorge Montoya, Gabriela Caicedo-Herrera, Daniel Elías Cuartas
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 187:388-395
Colombia has a high prevalence of mucopolysaccharidosis (MPS) type IVA. Nevertheless, data regarding the mutation spectrum for MPS IVA in this population have not been completely characterized. Forty-seven families and 53 patients from seven differen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51f7b4e197e09f24b72a991782e7191c
https://doi.org/10.1002/ajmg.c.31936
https://doi.org/10.1002/ajmg.c.31936
Autor:
Harry Pachajoa, Jose Antonio Nastasi-Catanese, Carlos E. Prada, Juliana Lores, Diana Ramirez-Montaño
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 184:1042-1051
Our aim was to characterize the phenotype and genotype of individuals with Noonan syndrome in Colombia. There are published cohorts of Noonan individuals from several countries in Latin America including Brazil, Chile, and Argentina, but none from Co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e2154d64f16f135c039b5658d06f066
https://doi.org/10.1002/ajmg.c.31869
https://doi.org/10.1002/ajmg.c.31869
Autor:
Harry Pachajoa, Juan David López-Ponce de León, Jose Antonio Nastasi-Catanese, Gabriel D Pinilla-Monsalve, Lisa X. Rodríguez-Rojas, Alejandro López, Juliana Lores
Publikováno v:
The Application of Clinical Genetics. 13:63-69
Hypertriglyceridemia is a common disease with only 2% of cases exhibiting monogenic mutations. Familial chylomicronemia syndrome (FCS) is a rare genetic condition associated with recurrent and severe episodes of pancreatitis and is mainly caused by m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::54300a2cac5f418281e950803e842d29
https://doi.org/10.2147/tacg.s243148
https://doi.org/10.2147/tacg.s243148
Autor:
Vanessa Ochoa, Hernando Londoño-Correa, Jose Antonio Nastasi-Catanese, Daniela Cleves, Harry Pachajoa, Jaime Manuel Restrepo, Jessica María Forero-Delgadillo
Publikováno v:
The Application of Clinical Genetics. 13:57-62
Introduction X-linked hypophosphatemic rickets is part of a larger group of hereditary diseases characterized by renal phosphate loss, which causes growth disorders, rickets, and osteomalacia. These conditions are characterized by disorders in phosph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9cd13204e4387ae1a77c9bfdd9190f2d
https://doi.org/10.2147/tacg.s232448
https://doi.org/10.2147/tacg.s232448
Autor:
Jose Antonio Nastasi-Catanese, Vanessa Ochoa, Harry Pachajoa, Hernando Londoño, Natalia Duque, Jessica María Forero-Delgadillo, Jaime Manuel Restrepo
Publikováno v:
Clinical Medicine Insights: Pediatrics, Vol 15 (2021)
Clinical Medicine Insights. Pediatrics
Clinical Medicine Insights. Pediatrics
Background:Congenital anomalies of the kidney and urinary tract (CAKUT) are the leading cause of end stage renal disease in children. Diagnosis by genetic testing has proven challenging due to its genetic and phenotypic heterogeneity, as well as inco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::861bb042e8311b78b8deb332c992bba5
https://doaj.org/article/e11340d324a0433087b5b2a35ac1b0c4
https://doaj.org/article/e11340d324a0433087b5b2a35ac1b0c4