Diagnóstico de intolerancia a la lactosa en adultos: rendimiento comparativo de la clínica, test de hidrógeno espirado y test genético

Autor: Soledad Quesada, Alonso Puga, Mary Hatton, Gabriela M. Repetto, Cecilia Vial, Antonio Rollán, Karena Espinoza

Publikováno v: Revista médica de Chile v.140 n.9 2012
SciELO Chile
CONICYT Chile
instacron:CONICYT

Background: Genetically programmed adult-type hypolactasia affects 56% of Chilean population. Ideally, diagnosis should be confirmed. Aim: To compare diagnostic yield of genetic test, hydrogen (H2) expiratory test and a validated symptomatic structur

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21dd2dcf63b8c371546d54919ee138a6
https://doi.org/10.4067/s0034-98872012000900001

Cystic fibrosis in Chilean patients: Analysis of 36 common CFTR gene mutations

Autor: Guillermo, Lay-Son, Alonso, Puga, Pedro, Astudillo, Gabriela M, Repetto, Gustavo, Pizarro

Publikováno v: Journal of Cystic Fibrosis. 10(1):66-70

Background CFTR gene mutations have worldwide differences in prevalence and data on Chilean patients is scarce. Methods We studied 36 of the most common CFTR mutations in Chilean patients from the CF National Program [Programa Nacional de Fibrosis Qu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e449a272152c21f8112c2d7bde40b45

Palate abnormalities in Chilean patients with chromosome 22q11 microdeletion syndrome

Autor: Alonso Puga, Marcos Vasquez, Mirta Palomares, M. Luisa Guzman, Gabriela M. Repetto, Guillermo Lay-Son

Publikováno v: INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
Artículos CONICYT
CONICYT Chile
instacron:CONICYT

Objective Chromosome 22q11 microdeletion syndrome (del22q11) is the most frequent microdeletion syndrome in humans, with an estimated incidence of 1/4000. It is recognized as a common identifiable cause of cleft palate. We characterized palatal abnor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfa579628694e1d568e712bb1ac5d180
https://pubmed.ncbi.nlm.nih.gov/22939891

[Comparative performance of symptoms questionnaire, hydrogen test and genetic test for lactose intolerance]

Autor: Antonio, Rollán, Cecilia, Vial, Soledad, Quesada, Karena, Espinoza, Mary, Hatton, Alonso, Puga, Gabriela, Repetto

Publikováno v: Revista medica de Chile. 140(9)

Genetically programmed adult-type hypolactasia affects 56% of Chilean population. Ideally, diagnosis should be confirmed.To compare diagnostic yield of genetic test, hydrogen (H2) expiratory test and a validated symptomatic structured survey (SS).Pat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a2b50e11e0a93a8a8b4094b183d37e40
https://pubmed.ncbi.nlm.nih.gov/23354630

VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: a case-control and family-based study

Autor: Patricia Sanz, Juan F. Calderón, Gabriela M. Repetto, Marta Arriaza, Alonso Puga, M. Luisa Guzman, Carmen Astete, Mariana Aracena, Teresa Aravena

Publikováno v: Biological Research v.42 n.4 2009
SciELO Chile
CONICYT Chile
instacron:CONICYT
Biological Research, Vol 42, Iss 4, Pp 461-468 (2009)
Biological Research, Volume: 42, Issue: 4, Pages: 461-468, Published: 2009
BIOLOGICAL RESEARCH
Artículos CONICYT

Microdeletion 22q11 in humans causes velocardiofacial and DiGeorge syndromes. Most patients share a common 3Mb deletion, but the clinical manifestations are very heterogeneous. Congenital heart disease is present in 50-80% of patients and is a signif

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c16cd30e68ab3eeb754bc462464c1d7
http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0716-97602009000400007