Zobrazeno 1 - 10
of 21
pro vyhledávání: '"J. J. Tellería"'
Autor:
E. Martínez, R. Moreno, L. López-Mesonero, I. Vidriales, M. Ruiz, A. L. Guerrero, J. J. Tellería
Publikováno v:
Case Reports in Neurological Medicine, Vol 2016 (2016)
Introduction. Familial hemiplegic migraine (FHM) is a rare disorder characterized by migraine attacks with motor weakness during the aura phase. Mutations in CACNA1A, ATP1A2, SCN1A, and PRRT2 genes have been described. Methods. To describe a mutation
Externí odkaz:
https://doaj.org/article/98e9764cb8b04e1288179d42180fc762
Publikováno v:
Anales de pediatria (Barcelona, Spain : 2003). 64(3)
Autor:
J J, Tellería Orriols, M J, Alonso Ramos, J A, Garrote Adrados, I, Fernández Carvajal, A, Blanco Quirós
Publikováno v:
Anales espanoles de pediatria. 57(1)
To analyze the efficiency of the method of neonatal screening for cystic fibrosis (CF) used in Castille and Leon (Spain), which is carried out with blood from Guthrie spots.A total of 36,086 newborns were studied from January 1999 to June 2001. Immun
Publikováno v:
Journal of investigational allergologyclinical immunology. 11(2)
Allergy and asthma are closely related conditions which result from a complex interaction between several genetic and environmental factors. On the basis of familial linkage analysis data from different populations, some chromosomal regions containin
[Effectiveness of a clinical test in the preselection of children with suspected fragile X syndrome]
Autor:
I, Fernández Carvajal, A, Blanco Quirós, J, Fernández Toral, J J, Tellería Orriols, M J, Alonso Ramos, A, Sanz Cantalapiedra, J F, Martín Rodríguez, R, Palencia Luances
Publikováno v:
Anales espanoles de pediatria. 54(4)
Fragile X syndrome (FXS) is the most frequent hereditary cause of mental retardation. It can be diagnosed by molecular genetic techniques, but clinical suspicion is made less likely by it variable expression.To assess the effectiveness of a six-item
Publikováno v:
Journal of investigational allergologyclinical immunology. 10(3)
Tumor necrosis factor (TNF) is a potent proinflammatory cytokine involved in asthma and atopy. Increased TNF-alpha levels have been found in airway biopsies and bronchoalveolar lavage fluids from asthmatic patients. Constitutional variations in the T
Publikováno v:
Human mutation. 14(1)
We have analyzed 39 unrelated cystic fibrosis (CF) families by denaturing gradient gel electrophoresis (DGGE) and direct sequencing in order to determine the spectrum of CF mutations in our population. This approach has allowed us to detect 72 out of
Publikováno v:
Allergologia et immunopathologia. 26(2)
Atopy is triggered by allergens and enhanced by environmental factors, but it has a clear genetic basis, as it is confirmed by the high incidence in siblings and twins. In the last few years, many authors have published genetic studies on asthmatic a
Autor:
M, Garrido Redondo, A, Blanco Quirós, J A, Garrote Adrados, J J, Tellería Orriols, E, Arranz Sanz
Publikováno v:
Anales espanoles de pediatria. 47(5)
IgA and IgG antibodies can be detected in saliva in order to assess the immune status against measles, rubella and mumps.Serum and saliva were simultaneously obtained from 50 adults between 19 and 52 years of age that were non-vaccinated and from 50