Gómez D - Search Results

1

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

Gómez D, Solsona E, Guitart M, Baena N, Gabau E, Egozcue J, Caballín MR. Gómez D, et al. Ann Genet. 2000 Jan-Mar;43(1):23-8. doi: 10.1016/s0003-3995(00)00017-4. Ann Genet. 2000. PMID: 10818217

2

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.

Blanco J, Gabau E, Gómez D, Baena N, Guitart M, Egozcue J, Vidal F. Blanco J, et al. Among authors: gomez d. Am J Hum Genet. 1998 Oct;63(4):1067-72. doi: 10.1086/302058. Am J Hum Genet. 1998. PMID: 9758616 Free PMC article.

3

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

Ballesta F, Queralt R, Gómez D, Solsona E, Guitart M, Ezquerra M, Moreno J, Oliva R. Ballesta F, et al. Among authors: gomez d. Ann Genet. 1999;42(1):11-5. Ann Genet. 1999. PMID: 10214502

4

Apolipoprotein E epsilon 4 alleles and meiotic origin of non-disjunction in Down syndrome children and in their corresponding fathers and mothers.

Ezquerra M, Ballesta F, Queralt R, Aledo R, Gómez D, Guitart M, Egozcue J, Ascaso C, Oliva R. Ezquerra M, et al. Among authors: gomez d. Neurosci Lett. 1998 May 22;248(1):1-4. doi: 10.1016/s0304-3940(98)00251-1. Neurosci Lett. 1998. PMID: 9665649

5

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

Soler A, Margarit E, Queralt R, Carrió A, Costa D, Gómez D, Ballesta F. Soler A, et al. Among authors: gomez d. Am J Med Genet. 2000 Feb 14;90(4):291-3. Am J Med Genet. 2000. PMID: 10710225

6

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

Milà M, Carrió A, Sánchez A, Gómez D, Jiménez D, Estivill X, Ballesta F. Milà M, et al. Among authors: gomez d. Med Clin (Barc). 1999 Jun 19;113(2):46-9. Med Clin (Barc). 1999. PMID: 10425618 Spanish.

7

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

Mallolas J, Vilaseca MA, Pavia C, Lambruschini N, Cambra FJ, Campistol J, Gómez D, Carrió A, Estivill X, Milà M. Mallolas J, et al. Among authors: gomez d. J Mol Med (Berl). 2001;78(12):721-4. doi: 10.1007/s001090000160. J Mol Med (Berl). 2001. PMID: 11434725

8

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

Margarit E, Bach V, Gómez D, Bruguera M, Jara P, Queralt R, Ballesta F. Margarit E, et al. Among authors: gomez d. Clin Genet. 2005 Jul;68(1):61-8. doi: 10.1111/j.1399-0004.2005.00439.x. Clin Genet. 2005. PMID: 15952988

9

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

Margarit E, Coll MD, Oliva R, Gómez D, Soler A, Ballesta F. Margarit E, et al. Among authors: gomez d. Am J Med Genet. 2000 Jan 3;90(1):25-8. doi: 10.1002/(sici)1096-8628(20000103)90:1<25::aid-ajmg5>3.0.co;2-5. Am J Med Genet. 2000. PMID: 10602113

10

Epidemiological, clinical characterization and treatment patterns of migraine patients in a Colombian cohort from 2018 to 2022.

Rubio AC, Arciniegas JA, Bolanos-Lopez JE, Gonzalez FJ, Gomez D, Mesa A, Bello C, Garcia M, Perez LE, Reyes JM. Rubio AC, et al. Among authors: gomez d. J Headache Pain. 2024 Dec 24;25(1):226. doi: 10.1186/s10194-024-01918-9. J Headache Pain. 2024. PMID: 39719604 Free PMC article.

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