Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Resultados 1 - 5 de 5
Filtrar
1.
BMC Med ; 16(1): 159, 2018 08 25.
Artículo en Inglés | MEDLINE | ID: mdl-30143037

RESUMEN

The original article [1] contains errors in Table 1 affecting some of the presented oligonucleotide sequences and readthrough values in Table 1.

2.
Arch Pediatr ; 9(1): 14-20, 2002 Jan.
Artículo en Francés | MEDLINE | ID: mdl-11865543

RESUMEN

BACKGROUND: Fetal alcohol syndrome (FAS) is a major problem in the Reunion Island and the Public Health Authorities decided to determine its prevalence in their medico-social centers on 31 December 1996. MATERIAL AND METHODS: A questionnaire was established to identify affected patients in the 20 medico-social centers in charge of 1320 children. Eighty-eight children were selected and 87 could be analyzed. RESULTS: Sixty-four of 87 (76.3%) were FAS and 23 of 87 (23.7%) had closely alcohol-related diseases. The prevalence was between 7.1 and 14.1% and lower than expected from available data. CONCLUSION: The study allowed to precise the social and familial factors predisposing to alcohol addiction during pregnancy. A TV prevention message will be broadcasted after this study.


Asunto(s)
Trastornos del Espectro Alcohólico Fetal/epidemiología , Adolescente , Adulto , Factores de Edad , Alcoholismo/prevención & control , Peso al Nacer , Niño , Preescolar , Diagnóstico Diferencial , Femenino , Trastornos del Espectro Alcohólico Fetal/diagnóstico , Trastornos del Espectro Alcohólico Fetal/prevención & control , Educación en Salud , Humanos , Lactante , Recién Nacido , Masculino , Embarazo , Complicaciones del Embarazo/prevención & control , Prevención Primaria , Reunión/epidemiología , Factores Socioeconómicos , Televisión
3.
Hum Biol ; 77(5): 705-14, 2005 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-16596947

RESUMEN

The large heterogeneity in the cystic fibrosis (CF) gene is the main difficulty for genotype characterization. Numerous studies have reported considerable variations in frequencies of CF transmembrane conductance regulator (CFTR) mutations in different populations, such as African, Asian, or European populations. To completely characterize the spectrum of mutations in the CFTR gene in the Réunion Island population, we screened 228 CF chromosomes using denaturing high-pressure liquid chromatography and denaturing gradient gel electrophoresis following by direct sequencing. We identified 27 mutations, accounting for 93% of CF chromosomes. They included three novel mutations (M1T, 3121-3C-->G, and L1324P), which are described in this paper. The detection of such a high proportion of Réunion Island CFTR mutations is important for improving neonatal screening of CF on Réunion Island.


Asunto(s)
Regulador de Conductancia de Transmembrana de Fibrosis Quística/genética , Fibrosis Quística/genética , Genética de Población , Tamizaje Neonatal , Polimorfismo Genético , Fibrosis Quística/diagnóstico , Humanos , Recién Nacido , Mutación , Reunión
SELECCIÓN DE REFERENCIAS
Detalles de la búsqueda