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International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay.
Nevado J, Ho KS, Zollino M, Blanco R, Cobaleda C, Golzio C, Beaudry-Bellefeuille I, Berrocoso S, Limeres J, Barrúz P, Serrano-Martín C, Cafiero C, Málaga I, Marangi G, Campos-Sánchez E, Moriyón-Iglesias T, Márquez S, Markham L, Twede H, Lortz A, Olson L, Sheng X, Weng C, Wassman ER 3rd, Newcomb T, Wassman ER, Carey JC, Battaglia A, López-Granados E; Wolf-Hirschhorn Spain's Working Group; Douglas D, Lapunzina P. Nevado J, et al. Am J Med Genet A. 2020 Jan;182(1):257-267. doi: 10.1002/ajmg.a.61406. Epub 2019 Nov 25. Am J Med Genet A. 2020. PMID: 31769173
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. Front Genet. 2022 Apr 12;13:652454. doi: 10.3389/fgene.2022.652454. eCollection 2022. Front Genet. 2022. PMID: 35495150 Free PMC article.
PLP1 gene analysis in 88 patients with leukodystrophy.
Martínez-Montero P, Muñoz-Calero M, Vallespín E, Campistol J, Martorell L, Ruiz-Falcó MJ, Santana A, Pons R, Dinopoulos A, Sierra C, Nevado J, Molano J. Martínez-Montero P, et al. Among authors: nevado j. Clin Genet. 2013 Dec;84(6):566-71. doi: 10.1111/cge.12103. Epub 2013 Mar 11. Clin Genet. 2013. PMID: 23347225
MRX93 syndrome (BRWD3 gene): five new patients with novel mutations.
Tenorio J, Alarcón P, Arias P, Ramos FJ, Campistol J, Climent S, García-Miñaur S, Dapía I, Hernández A, Nevado J, Solís M, Ruiz-Pérez VL; Sogri Consortium; Lapunzina P. Tenorio J, et al. Among authors: nevado j. Clin Genet. 2019 Jun;95(6):726-731. doi: 10.1111/cge.13504. Epub 2019 Apr 29. Clin Genet. 2019. PMID: 30628072
Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor.
Tenorio J, Nevado J, González-Meneses A, Arias P, Dapía I, Venegas-Vega CA, Calvente M, Hernández A, Landera L, Ramos S; SOGRI Consortium; Cigudosa JC, Pérez-Jurado LA, Lapunzina P. Tenorio J, et al. Among authors: nevado j. Clin Genet. 2020 Mar;97(3):467-476. doi: 10.1111/cge.13689. Epub 2020 Jan 23. Clin Genet. 2020. PMID: 31972898
Novel TNIP2 and TRAF2 Variants Are Implicated in the Pathogenesis of Pulmonary Arterial Hypertension.
Pienkos S, Gallego N, Condon DF, Cruz-Utrilla A, Ochoa N, Nevado J, Arias P, Agarwal S, Patel H, Chakraborty A, Lapunzina P, Escribano P, Tenorio-Castaño J, de Jesús Pérez VA. Pienkos S, et al. Among authors: nevado j. Front Med (Lausanne). 2021 Apr 30;8:625763. doi: 10.3389/fmed.2021.625763. eCollection 2021. Front Med (Lausanne). 2021. PMID: 33996849 Free PMC article.
Lamb-Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency.
Tenorio-Castano J, Gómez ÁS, Coronado M, Rodríguez-Martín P, Parra A, Pascual P, Cazalla M, Gallego N, Arias P, Morales AV, Nevado J, Lapunzina P. Tenorio-Castano J, et al. Among authors: nevado j. Clin Genet. 2023 Dec;104(6):637-647. doi: 10.1111/cge.14423. Epub 2023 Sep 13. Clin Genet. 2023. PMID: 37702321 Review.
196 results