Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Blanca Hernández-Charro"'
KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome
Autor:
Aranzazu Pérez-Juana-del-Casal, Maria A. Ramos-Arroyo, Beatriz Nieva-Echebarria, Amaya Bengoa-Alonso, Carlos Romero-Ibarra, Blanca Hernández-Charro, María Moreno-Igoa
Publikováno v:
BMC Medical Genetics
Background Chromosome 17q21.31 microdeletion syndrome is a multisystem genomic disorder caused by a recurrent 600-kb-long deletion, or haploinsufficiency of the chromatin modifier gene KANSL1, which maps to that region. Patients with KANSL1 intrageni
Autor:
Mercè Artigas-López, María Moreno-Igoa, Amaya Bengoa-Alonso, Maria A. Ramos-Arroyo, Blanca Hernández-Charro, Claudio Cattalli
Publikováno v:
American journal of medical genetics. Part A. 170(6)
The 22q11.2 deletion syndrome is typically caused by haploinsufficiency of a 3 Mb region that extends from LCR22-A until LCR22-D, while the recurrent recombination between any of the LCR22-D to H causes the 22q11.2 distal deletion syndrome. Here, we
Autor:
Alberto Valiente, José María Manubens, María Dolores Villar, Blanca Hernández-Charro, Sira Moreno, Maria A. Ramos-Arroyo
Publikováno v:
Medicina Clínica. 123:251-254
Fundamento y objetivo: La asociacion entre el APOE*e4 (apolipoproteina E) y la enfermedad de Alzheimer (EA) esporadica es un hecho establecido, pero la influencia de otros genes de susceptibilidad es actualmente motivo de controversia. El objetivo de
Autor:
Blanca Hernández-Charro, Sira Moreno, Alberto Valiente, José María Manubens, María Dolores Villar, María Antonia Ramos-Arroyo
Publikováno v:
Medicina Clínica. 123:251-254
Autor:
Blanca, Hernández-Charro, Sira, Moreno, Alberto, Valiente, José María, Manubens, María Dolores, Villar, María Antonia, Ramos-Arroyo
Publikováno v:
Medicina clinica. 123(7)
The association between the presence of the allele APOE*epsilon4 (apolipoprotein E) and sporadic Alzheimer disease (AD) has been long established. However, the possible influence of other genetic factors is still under debate. This study investigated