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Page 1
Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.
Nevado J, García-Miñaúr S, Palomares-Bralo M, Vallespín E, Guillén-Navarro E, Rosell J, Bel-Fenellós C, Mori MÁ, Milá M, Del Campo M, Barrúz P, Santos-Simarro F, Obregón G, Orellana C, Pachajoa H, Tenorio JA, Galán E, Cigudosa JC, Moresco A, Saleme C, Castillo S, Gabau E, Pérez-Jurado L, Barcia A, Martín MS, Mansilla E, Vallcorba I, García-Murillo P, Cammarata-Scalisi F, Gonçalves Pereira N, Blanco-Lago R, Serrano M, Ortigoza-Escobar JD, Gener B, Seidel VA, Tirado P, Lapunzina P; Spanish PMS Working Group. Nevado J, et al. Among authors: gener b. Front Genet. 2022 Apr 12;13:652454. doi: 10.3389/fgene.2022.652454. eCollection 2022. Front Genet. 2022. PMID: 35495150 Free PMC article.
Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder.
Cuscó I, Medrano A, Gener B, Vilardell M, Gallastegui F, Villa O, González E, Rodríguez-Santiago B, Vilella E, Del Campo M, Pérez-Jurado LA. Cuscó I, et al. Among authors: gener b. Hum Mol Genet. 2009 May 15;18(10):1795-804. doi: 10.1093/hmg/ddp092. Epub 2009 Feb 26. Hum Mol Genet. 2009. PMID: 19246517 Free PMC article.
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.
Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.
Codina-Solà M, Rodríguez-Santiago B, Homs A, Santoyo J, Rigau M, Aznar-Laín G, Del Campo M, Gener B, Gabau E, Botella MP, Gutiérrez-Arumí A, Antiñolo G, Pérez-Jurado LA, Cuscó I. Codina-Solà M, et al. Among authors: gener b. Mol Autism. 2015 Apr 15;6:21. doi: 10.1186/s13229-015-0017-0. eCollection 2015. Mol Autism. 2015. PMID: 25969726 Free PMC article.
Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia.
Tarilonte M, Morín M, Ramos P, Galdós M, Blanco-Kelly F, Villaverde C, Rey-Zamora D, Rebolleda G, Muñoz-Negrete FJ, Tahsin-Swafiri S, Gener B, Moreno-Pelayo MA, Ayuso C, Villamar M, Corton M. Tarilonte M, et al. Among authors: gener b. Front Genet. 2018 Oct 17;9:479. doi: 10.3389/fgene.2018.00479. eCollection 2018. Front Genet. 2018. PMID: 30386378 Free PMC article.
FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.
Cospain A, Rivera-Barahona A, Dumontet E, Gener B, Bailleul-Forestier I, Meyts I, Jouret G, Isidor B, Brewer C, Wuyts W, Moens L, Delafontaine S, Keung Lam WW, Van Den Bogaert K, Boogaerts A, Scalais E, Besnard T, Cogne B, Guissard C, Rollier P, Carre W, Bouvet R, Tarte K, Gómez-Carmona R, Lapunzina P, Odent S, Faoucher M, Dubourg C, Ruiz-Pérez VL, Devriendt K, Pasquier L, Pérez-Jurado LA. Cospain A, et al. Among authors: gener b. Genet Med. 2022 Dec;24(12):2475-2486. doi: 10.1016/j.gim.2022.09.002. Epub 2022 Oct 4. Genet Med. 2022. PMID: 36197437 Free article.
MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males).
Maortua H, Martínez-Bouzas C, García-Ribes A, Martínez MJ, Guillen E, Domingo MR, Calvo MT, Guitart M, Gabau E, Botella MP, Gener B, Rubio I, López-Aríztegui MA, Tejada MI. Maortua H, et al. Among authors: gener b. J Mol Diagn. 2013 Sep;15(5):723-9. doi: 10.1016/j.jmoldx.2013.05.002. Epub 2013 Jun 26. J Mol Diagn. 2013. PMID: 23810759 Free article.
67 results