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Page 1
F8 gene dosage defects in atypical patients with severe haemophilia A.
Venceslá Á, Baena M, Garrido RP, Núñez R, Velasco F, Rosell J, Villar A, Jiménez-Yuste V, Baiget M, Tizzano EF. Venceslá Á, et al. Among authors: rosell j. Haemophilia. 2012 Sep;18(5):708-13. doi: 10.1111/j.1365-2516.2012.02818.x. Epub 2012 May 23. Haemophilia. 2012. PMID: 22621702
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.
Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF; SOGRI Consortium; Lapunzina P. Tenorio J, et al. Eur J Hum Genet. 2020 Apr;28(4):469-479. doi: 10.1038/s41431-019-0485-3. Epub 2019 Nov 4. Eur J Hum Genet. 2020. PMID: 31685998 Free PMC article.
The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor.
Bernal S, Alías L, Barceló MJ, Also-Rallo E, Martínez-Hernández R, Gámez J, Guillén-Navarro E, Rosell J, Hernando I, Rodríguez-Alvarez FJ, Borrego S, Millán JM, Hernández-Chico C, Baiget M, Fuentes-Prior P, Tizzano EF. Bernal S, et al. Among authors: rosell j. J Med Genet. 2010 Sep;47(9):640-2. doi: 10.1136/jmg.2010.079004. Epub 2010 Jun 24. J Med Genet. 2010. PMID: 20577007
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Perea-Romero I, Gordo G, Iancu IF, Del Pozo-Valero M, Almoguera B, Blanco-Kelly F, Carreño E, Jimenez-Rolando B, Lopez-Rodriguez R, Lorda-Sanchez I, Martin-Merida I, Pérez de Ayala L, Riveiro-Alvarez R, Rodriguez-Pinilla E, Tahsin-Swafiri S, Trujillo-Tiebas MJ; ESRETNET Study Group; ERDC Study Group; Associated Clinical Study Group; Garcia-Sandoval B, Minguez P, Avila-Fernandez A, Corton M, Ayuso C. Perea-Romero I, et al. Sci Rep. 2021 Jan 15;11(1):1526. doi: 10.1038/s41598-021-81093-y. Sci Rep. 2021. PMID: 33452396 Free PMC article.
Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain.
Tejada MI, Glover G, Martínez F, Guitart M, de Diego-Otero Y, Fernández-Carvajal I, Ramos FJ, Hernández-Chico C, Pintado E, Rosell J, Calvo MT, Ayuso C, Ramos-Arroyo MA, Maortua H, Milà M. Tejada MI, et al. Among authors: rosell j. Biomed Res Int. 2014;2014:195793. doi: 10.1155/2014/195793. Epub 2014 May 28. Biomed Res Int. 2014. PMID: 24987673 Free PMC article.
Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS).
Benito-Sanz S, Barroso E, Heine-Suñer D, Hisado-Oliva A, Romanelli V, Rosell J, Aragones A, Caimari M, Argente J, Ross JL, Zinn AR, Gracia R, Lapunzina P, Campos-Barros A, Heath KE. Benito-Sanz S, et al. Among authors: rosell j. J Clin Endocrinol Metab. 2011 Feb;96(2):E404-12. doi: 10.1210/jc.2010-1689. Epub 2010 Dec 8. J Clin Endocrinol Metab. 2011. PMID: 21147883
Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation.
Torres-Juan L, Rosell J, Morla M, Vidal-Pou C, García-Algas F, de la Fuente MA, Juan M, Tubau A, Bachiller D, Bernues M, Perez-Granero A, Govea N, Busquets X, Heine-Suñer D. Torres-Juan L, et al. Among authors: rosell j. Eur J Hum Genet. 2007 Jun;15(6):658-63. doi: 10.1038/sj.ejhg.5201819. Epub 2007 Mar 21. Eur J Hum Genet. 2007. PMID: 17377518
299 results