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A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis
(BioMed Central, 2011-06-27)
Background: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive genetic disease characterized by the lack of reaction to noxious stimuli and anhidrosis. It is caused by mutations in the ...
Accuracy in Copy Number Calling by qPCR and PRT : A Matter of DNA
(Public Library of Science, 2011-12-13)
The possible implication of copy number variation (CNV) in the genetic susceptibility to human disease needs to be assessed using robust methods that can be applied at a population scale. In this report, we analyze the ...
Impacto biológico y cultural del Neolítico en poblaciones del Norte de la Península Ibérica
(Servicio Editorial de la Universidad del País Vasco/Euskal Herriko Unibertsitatearen Argitalpen Zerbitzua, 2011-12-02)
esqueléticos recuperados en la cámara sepulcral del hipogeo de Longar. El sepulcro
megalítico de Longar presenta unas características arquitectónicas que le convierten en una
“rareza” constructiva, alejado de las estructuras ...
A Customized Pigmentation SNP Array Identifies a Novel SNP Associated with Melanoma Predisposition in the SLC45A2 Gene
(Public Library of Science, 2011-04-29)
As the incidence of Malignant Melanoma (MM) reflects an interaction between skin colour and UV exposure, variations in genes implicated in pigmentation and tanning response to UV may be associated with susceptibility to ...
Genetic and Environmental Influences on Growth from Late Childhood to Adulthood: A Longitudinal Study of Two Finnish Twin Cohorts
(Wiley, 2011-09-29)
Objectives: Human growth is a complex process that remains insufficiently understood. We aimed to analyze genetic and environmental influences on growth from late childhood to early adulthood.
Methods: Two cohorts of ...
Organización espacial y funcional del genoma en células aneuploides
(Servicio Editorial de la Universidad del País Vasco/Euskal Herriko Unibertsitatearen Argitalpen Zerbitzua, 2011-09-05)
El genoma se encuentra altamente organizado en el espacio nuclear de las células eucariotas. Los cromosomas y los genes ocupan una posición preferente respecto del centro o de la periferia del núcleo, y respecto de otros ...
Polymorphisms of the SLCO1B1 gene predict methotrexate-related toxicity in childhood acute lymphoblastic leukemia
(Wiley, 2011-10)
Background: Methotrexate (MTX) is an important component of the therapy for childhood acute lymphoblastic leukemia. Treatment with high-dose MTX often causes toxicity, recommending a dose reduction and/or cessation of ...