Dopazo J - Search Results

1

Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.

Bogliolo M, Pujol R, Aza-Carmona M, Muñoz-Subirana N, Rodriguez-Santiago B, Casado JA, Rio P, Bauser C, Reina-Castillón J, Lopez-Sanchez M, Gonzalez-Quereda L, Gallano P, Catalá A, Ruiz-Llobet A, Badell I, Diaz-Heredia C, Hladun R, Senent L, Argiles B, Bergua Burgues JM, Bañez F, Arrizabalaga B, López Almaraz R, Lopez M, Figuera Á, Molinés A, Pérez de Soto I, Hernando I, Muñoz JA, Del Rosario Marin M, Balmaña J, Stjepanovic N, Carrasco E, Cuesta I, Cosuelo JM, Regueiro A, Moraleda Jimenez J, Galera-Miñarro AM, Rosiñol L, Carrió A, Beléndez-Bieler C, Escudero Soto A, Cela E, de la Mata G, Fernández-Delgado R, Garcia-Pardos MC, Sáez-Villaverde R, Barragaño M, Portugal R, Lendinez F, Hernadez I, Vagace JM, Tapia M, Nieto J, Garcia M, Gonzalez M, Vicho C, Galvez E, Valiente A, Antelo ML, Ancliff P, Garcia F, Dopazo J, Sevilla J, Paprotka T, Pérez-Jurado LA, Bueren J, Surralles J. Bogliolo M, et al. Among authors: dopazo j. J Med Genet. 2020 Apr;57(4):258-268. doi: 10.1136/jmedgenet-2019-106249. Epub 2019 Oct 5. J Med Genet. 2020. PMID: 31586946

2

Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria.

Tort F, García-Silva MT, Ferrer-Cortès X, Navarro-Sastre A, Garcia-Villoria J, Coll MJ, Vidal E, Jiménez-Almazán J, Dopazo J, Briones P, Elpeleg O, Ribes A. Tort F, et al. Among authors: dopazo j. Mol Genet Metab. 2013 Sep-Oct;110(1-2):73-7. doi: 10.1016/j.ymgme.2013.04.021. Epub 2013 May 3. Mol Genet Metab. 2013. PMID: 23707711

3

Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F.

Pozo MG, Bravo-Gil N, Méndez-Vidal C, Montero-de-Espinosa I, Millán JM, Dopazo J, Borrego S, Antiñolo G. Pozo MG, et al. Among authors: dopazo j. Am J Med Genet A. 2015 Jul;167(7):1597-600. doi: 10.1002/ajmg.a.37003. Epub 2015 Mar 30. Am J Med Genet A. 2015. PMID: 25823529

4

Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.

Urreizti R, Roca-Ayats N, Trepat J, Garcia-Garcia F, Aleman A, Orteschi D, Marangi G, Neri G, Opitz JM, Dopazo J, Cormand B, Vilageliu L, Balcells S, Grinberg D. Urreizti R, et al. Among authors: dopazo j. Am J Med Genet A. 2016 Jan;170A(1):24-31. doi: 10.1002/ajmg.a.37418. Epub 2015 Oct 7. Am J Med Genet A. 2016. PMID: 26768331

5

Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype.

Lucariello M, Vidal E, Vidal S, Saez M, Roa L, Huertas D, Pineda M, Dalfó E, Dopazo J, Jurado P, Armstrong J, Esteller M. Lucariello M, et al. Among authors: dopazo j. Hum Genet. 2016 Dec;135(12):1343-1354. doi: 10.1007/s00439-016-1721-3. Epub 2016 Aug 19. Hum Genet. 2016. PMID: 27541642 Free PMC article.

6

CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.

Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.

7

Use of estimated evolutionary strength at the codon level improves the prediction of disease-related protein mutations in humans.

Capriotti E, Arbiza L, Casadio R, Dopazo J, Dopazo H, Marti-Renom MA. Capriotti E, et al. Among authors: dopazo j, dopazo h. Hum Mutat. 2008 Jan;29(1):198-204. doi: 10.1002/humu.20628. Hum Mutat. 2008. PMID: 17935148

8

A large scale survey reveals that chromosomal copy-number alterations significantly affect gene modules involved in cancer initiation and progression.

Alloza E, Al-Shahrour F, Cigudosa JC, Dopazo J. Alloza E, et al. Among authors: dopazo j. BMC Med Genomics. 2011 May 6;4:37. doi: 10.1186/1755-8794-4-37. BMC Med Genomics. 2011. PMID: 21548942 Free PMC article.

9

VARIANT: Command Line, Web service and Web interface for fast and accurate functional characterization of variants found by Next-Generation Sequencing.

Medina I, De Maria A, Bleda M, Salavert F, Alonso R, Gonzalez CY, Dopazo J. Medina I, et al. Among authors: dopazo j. Nucleic Acids Res. 2012 Jul;40(Web Server issue):W54-8. doi: 10.1093/nar/gks572. Epub 2012 Jun 11. Nucleic Acids Res. 2012. PMID: 22693211 Free PMC article.

10

Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.

Méndez-Vidal C, González-Del Pozo M, Vela-Boza A, Santoyo-López J, López-Domingo FJ, Vázquez-Marouschek C, Dopazo J, Borrego S, Antiñolo G. Méndez-Vidal C, et al. Among authors: dopazo j. Mol Vis. 2013 Nov 7;19:2187-95. eCollection 2013. Mol Vis. 2013. PMID: 24227914 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

379 results

Search Page

Filters