Now showing items 1-6 of 6
High prevalence of specific language impairment in Robinson Crusoe Island. A possible founder effect Alta prevalencia de trastorno específico de lenguaje en isla Robinson Crusoe y probable efecto fundador
Background: Specific language impairment (SLI) occurs in 2% to 8% of preschool children. Major and candidate genes are probably involved. Genetic drift is a cause for the presence of high frequencies of deleterious alleles ...
A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family a rural isolate
Complete achromatopsia is genetically heterogeneous and segregates with mutations in CNGA3 or CNGB3 genes, which respectively encode for α- and β-subunits of the cyclic-nucleotide-gated (CNG) cation channel expressed in ...
E180splice mutation in the growth hormone receptor gene in a Chilean family with growth hormone insensitivity: A probable common mediterranean ancestor
(Freund Publishing House Ltd, 2008)
Mutations in the GH receptor gene have been identified as the cause of growth hormone insensitivity syndrome (GHIS), a rare autosomal recessive disorder. We studied the clinical and biochemical characteristics and the ...
Dental morphological markers as a proxy for ethnicity in Robinson Crusoe islanders Marcadores morfológicos dentarios en la estimación de la etnicidad poblacional de la Isla Robinson Crusoe
(Universidad de la Frontera, 2015)
© 2015, Universidad de la Frontera. All rights reserved. Chilean Robinson Crusoe Island is a semi-isolated location with unusually high rates of both consanguinity and language disorder. The current population of 633 ...
A Deletion of More than 800 kb Is the Most Recurrent Mutation in Chilean Patients with SHOX Gene Defects
Background: Deletions in the SHOX gene are the most frequent genetic cause of Leri-Weill syndrome and Langer mesomelic dysplasia, which are also present in idiopathic short stature. Aim: To describe the molecular and ...
Efecto del cruzamiento entre dos líneas de tilapia roja ( oreochromisspp.) Sobre la mortalidad y la producción de larvas a los 30 dias de edadEffect of crossbreeding between two strains of red tilapia (oreochromis spp.) On the mortality and larval production at 30 days
(Bogotá : Universidad de Ciencias Aplicadas y Ambientales, 2006, 2020)