D. Gómez

发表

Large de novo deletion in chromosome 12 affecting the PAH, IGF1, ASCL1, and TRA1 genes

X. Estivill, J. Mallolas, M. Milá, 2001, Journal of Molecular Medicine.

SRY gene transferred to the long arm of the X chromosome in a Y-positive XX true hermaphrodite.

R. Oliva, M. D. Coll, Á. Soler, 2000, American journal of medical genetics.

Chromosome 21 disomy in the spermatozoa of the fathers of children with trisomy 21, in a population with a high prevalence of Down syndrome: increased incidence in cases of paternal origin.

N. Baena, J. Egozcue, F. Vidal, 1998, American journal of human genetics.

Parental origin and meiotic stage of non-disjunction in 139 cases of trisomy 21.

M. Ezquerra, R. Oliva, E. Solsona, 1999, Annales de genetique.

Paternal isodisomy 13 in a normal newborn infant after trisomy rescue evidenced by prenatal diagnosis.

A. Soler, R. Queralt, D. Costa, 2000, American journal of medical genetics.

Mutation analysis of Wilson disease in the Spanish population – identification of a prevalent substitution and eight novel mutations in the ATP7B gene

R Queralt, P. Jara, E Margarit, 2005, Clinical genetics.

Origin of trisomy 21 in Down syndrome cases from a Spanish population registry.

N. Baena, M. Caballín, J. Egozcue, 2000, Annales de genetique.

Apolipoprotein E ϵ4 alleles and meiotic origin of non-disjunction in Down syndrome children and in their corresponding fathers and mothers

R. Aledo, M. Ezquerra, R. Oliva, 1998, Neuroscience Letters.

[Clinical characterization, molecular and FISH studies in 80 patients with clinical suspicion of Williams-Beuren syndrome].

X. Estivill, M. Milá, A. Sánchez, 1999, Medicina clinica.