Dominguez-Garrido E - Search Results

1

A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency.

Cervera-Acedo C, Lopez M, Aguirre-Lamban J, Santibañez P, Garcia-Oguiza A, Poch-Olive ML, Dominguez-Garrido E. Cervera-Acedo C, et al. Hum Genome Var. 2015 Oct 29;2:15037. doi: 10.1038/hgv.2015.37. eCollection 2015. Hum Genome Var. 2015. PMID: 27081545 Free PMC article.

2

Digital droplet PCR on disk.

Schuler F, Trotter M, Geltman M, Schwemmer F, Wadle S, Domínguez-Garrido E, López M, Cervera-Acedo C, Santibáñez P, von Stetten F, Zengerle R, Paust N. Schuler F, et al. Lab Chip. 2016 Jan 7;16(1):208-16. doi: 10.1039/c5lc01068c. Lab Chip. 2016. PMID: 26610263

3

A novel mutation in the CDH1 gene in a Spanish family with hereditary diffuse gastric cancer.

López M, Cervera-Acedo C, Santibáñez P, Salazar R, Sola JJ, Domínguez-Garrido E. López M, et al. Springerplus. 2016 Jul 26;5(1):1181. doi: 10.1186/s40064-016-2852-7. eCollection 2016. Springerplus. 2016. PMID: 27512640 Free PMC article.

4

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant.

López M, Seidel V, Santibáñez P, Cervera-Acedo C, Castro-de Castro P, Domínguez-Garrido E. López M, et al. BMC Med Genet. 2016 Dec 13;17(1):97. doi: 10.1186/s12881-016-0361-8. BMC Med Genet. 2016. PMID: 27964710 Free PMC article.

5

Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene.

Cervera-Acedo C, Coloma A, Huarte-Loza E, Sierra-Carpio M, Domínguez-Garrido E. Cervera-Acedo C, et al. BMC Nephrol. 2017 Oct 31;18(1):325. doi: 10.1186/s12882-017-0735-y. BMC Nephrol. 2017. PMID: 29089023 Free PMC article.

6

Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum.

López M, García-Oguiza A, Armstrong J, García-Cobaleda I, García-Miñaur S, Santos-Simarro F, Seidel V, Domínguez-Garrido E. López M, et al. BMC Med Genet. 2018 Mar 5;19(1):36. doi: 10.1186/s12881-018-0548-2. BMC Med Genet. 2018. PMID: 29506490 Free PMC article.

7

New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients.

Pérez-Grijalba V, García-Oguiza A, López M, Armstrong J, García-Miñaur S, Mesa-Latorre JM, O'Callaghan M, Pineda Marfa M, Ramos-Arroyo MA, Santos-Simarro F, Seidel V, Domínguez-Garrido E. Pérez-Grijalba V, et al. Mol Genet Genomic Med. 2019 Nov;7(11):e972. doi: 10.1002/mgg3.972. Epub 2019 Sep 30. Mol Genet Genomic Med. 2019. PMID: 31566936 Free PMC article.

8

A 22.5 kb deletion in CUL4B causing Cabezas syndrome identified using CNV approach from WES data.

López M, Pérez-Grijalba V, García-Cobaleda I, Domínguez-Garrido E. López M, et al. Clin Case Rep. 2020 Sep 29;8(12):3184-3188. doi: 10.1002/ccr3.3381. eCollection 2020 Dec. Clin Case Rep. 2020. PMID: 33363903 Free PMC article.

9

[Aicardi-Goutieres syndrome: a family case due to alteration of the RNASEH2B gene].

Viguera-Elías D, de la Iglesia-Nagore I, Toledo-Gotor C, Domínguez-Garrido E, Poch-Olivé ML. Viguera-Elías D, et al. Rev Neurol. 2021 Jun 1;72(11):407-409. doi: 10.33588/rn.7211.2021071. Rev Neurol. 2021. PMID: 34042169 Free article. Spanish.

10

Phenotypic comparison of patients affected with DeSanto-Shinawi syndrome: Point mutations in WAC gene versus a 10p12.1 microdeletion including WAC.

Toledo-Gotor C, García-Muro C, García-Oguiza A, Poch-Olivé ML, Ruiz-Del Prado MY, Domínguez-Garrido E. Toledo-Gotor C, et al. Mol Genet Genomic Med. 2022 May;10(5):e1910. doi: 10.1002/mgg3.1910. Epub 2022 Mar 10. Mol Genet Genomic Med. 2022. PMID: 35266333 Free PMC article.

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