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D Gómez

Research Profile

Disorders

Anatomy

Chromosomes, Human, Pair 21

Physiology

Genomic Imprinting

Living Beings

Procedures

Geographic Areas

Spain

Concepts & Ideas

Chemicals & Drugs

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Publications

TOP 3
Ester Margarit; V Bach; D Gómez; Miquel Bruguera; P Jara; Rosa Queralt; F Ballesta
Mutation analysis of Wilson disease in the Spanish population -- identification of a prevalent substitution and eight novel mutations in the ATP7B gene.
J Mallolas; Maria Antonia Vilaseca; C Pavia; Nilo Lambruschini; Francisco J Cambra; Jaume Campistol; D Gómez; Ana Carrió; Xavier Estivill; Montserrat Milà
Large de novo deletion in chromosome 12 affecting the PAH, IGF1, ASCL1, and TRA1 genes.
Anna Soler; Ester Margarit; Rosa Queralt; Ana Carrió; Dolors Costa; D Gómez; F Ballesta
Paternal isodisomy 13 in a normal newborn infant after trisomy rescue evidenced by prenatal diagnosis.

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All Publications

2005: Ester Margarit; V Bach; D Gómez; Miquel Bruguera; P Jara; Rosa Queralt; F Ballesta
Mutation analysis of Wilson disease in the Spanish population -- identification of a prevalent substitution and eight novel mutations in the ATP7B gene.
Clinical genetics 2005;68(1):61-8.
2001: J Mallolas; Maria Antonia Vilaseca; C Pavia; Nilo Lambruschini; Francisco J Cambra; Jaume Campistol; D Gómez; Ana Carrió; Xavier Estivill; Montserrat Milà
Large de novo deletion in chromosome 12 affecting the PAH, IGF1, ASCL1, and TRA1 genes.
Journal of molecular medicine (Berlin, Germany) 2001;78(12):721-4.
2000: Anna Soler; Ester Margarit; Rosa Queralt; Ana Carrió; Dolors Costa; D Gómez; F Ballesta
Paternal isodisomy 13 in a normal newborn infant after trisomy rescue evidenced by prenatal diagnosis.
American journal of medical genetics 2000;90(4):291-3.
2000: Ester Margarit; M D Coll; Rafael Oliva; D Gómez; Anna Soler; F Ballesta
SRY gene transferred to the long arm of the X chromosome in a Y-positive XX true hermaphrodite.
American journal of medical genetics 2000;90(1):25-8.
2000: D Gómez; E Solsona; Miriam Guitart; Neus Baena; Elisabeth Gabau; Josep Egozcue; Maria Rosa Caballín
Origin of trisomy 21 in Down syndrome cases from a Spanish population registry.
Annales de génétique 2000;43(1):23-8.
1999: F Ballesta; Rosa Queralt; D Gómez; E Solsona; Miriam Guitart; Mario Ezquerra; J Moreno; Rafael Oliva
Parental origin and meiotic stage of non-disjunction in 139 cases of trisomy 21.
Annales de génétique 1999;42(1):11-5.
1998: J Blanco; Elisabeth Gabau; D Gómez; Neus Baena; Miriam Guitart; Josep Egozcue; Francesca Vidal
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.
American journal of human genetics 1998;63(4):1067-72.
1998: Mario Ezquerra; F Ballesta; Rosa Queralt; R Aledo; D Gómez; Miriam Guitart; Josep Egozcue; C Ascaso; Rafael Oliva
Apolipoprotein E epsilon 4 alleles and meiotic origin of non-disjunction in Down syndrome children and in their corresponding fathers and mothers.
Neuroscience letters 1998;248(1):1-4.