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Browsing by Author "Ballana Guix, Ester"

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Characterization and evolution of the novel gene family FAM90A in primates originated by multiple duplication and rearrangement events

Bosch Pagès, Nina; Cáceres Aguilar, Mario; Cardone, Maria Francesca; Carreras, Anna; Ballana Guix, Ester; Rocchi, Mariano; Armengol i Dulcet, Lluís; Estivill, Xavier, 1955- (Oxford University Press, 2007)

Genomic plasticity of human chromosome 8p23.1 region is highly influenced by two groups of complex segmental duplications (SDs), termed REPD and REPP, that mediate different kinds of rearrangements. Part of the difficulty ...
Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability

Ballana Guix, Ester; González Ruiz, Juan Ramón; Bosch Pagès, Nina; Estivill, Xavier, 1955- (BioMed Central, 2007)

Background: Copy number variants (CNVs) account for a significant proportion of normal phenotypic variation and may have an important role in human pathological variation. The α-defensin cluster on human chromosome 8p23.1 ...
Molecular basis of deafness linked to mitochondrial DNA mutations

Ballana Guix, Ester (Universitat Pompeu Fabra, 2007-05-04)

La seqüenciació del genoma humà ha marcat una fita important en la història de la biologia. Com a conseqüència, la genètica i la genòmica han experimentat un progrés enorme. Això ha permès un millor coneixement tant de les ...
MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene

Ballana Guix, Ester; Mercader Bigas, Josep Maria; Fischel Ghodsian, Nathan; Estivill, Xavier, 1955- (BioMed Central, 2007)

Background: Mitochondrial DNA (mtDNA) mutations account for at least 5% of cases of postlingual, nonsyndromic hearing impairment. Among them, mutation A1555G is frequently found associated with aminoglycoside-induced and/or ...

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Browsing by Author "Ballana Guix, Ester"

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