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Page 1
Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis.
Marakhonov AV, Voskresenskaya AA, Ballesta MJ, Konovalov FA, Vasilyeva TA, Blanco-Kelly F, Pozdeyeva NA, Kadyshev VV, López-González V, Guillen E, Ayuso C, Zinchenko RA, Corton M. Marakhonov AV, et al. Among authors: ballesta mj. Orphanet J Rare Dis. 2020 Aug 13;15(1):207. doi: 10.1186/s13023-020-01484-8. Orphanet J Rare Dis. 2020. PMID: 32791987 Free PMC article.
A new overgrowth syndrome is due to mutations in RNF125.
Tenorio J, Mansilla A, Valencia M, Martínez-Glez V, Romanelli V, Arias P, Castrejón N, Poletta F, Guillén-Navarro E, Gordo G, Mansilla E, García-Santiago F, González-Casado I, Vallespín E, Palomares M, Mori MA, Santos-Simarro F, García-Miñaur S, Fernández L, Mena R, Benito-Sanz S, del Pozo Á, Silla JC, Ibañez K, López-Granados E, Martín-Trujillo A, Montaner D; SOGRI Consortium; Heath KE, Campos-Barros Á, Dopazo J, Nevado J, Monk D, Ruiz-Pérez VL, Lapunzina P. Tenorio J, et al. Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689. Hum Mutat. 2014. PMID: 25196541
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.
Identification of copy-number variants in patients with overgrowth disorders.
Parra A, Tenorio-Castano J, Nevado J, Cazalla M, Miranda-Alcaraz L, Gallego-Zazo N, Silván C, Arias P, Pozo-Román J, Ballesta-Martínez MJ, Guillén-Navarro E, Arroyo I, Lotersztein V, Cosentino V, González-Meneses A, Galán E, Rosell J, Ramos F; Spanish OverGrowth Registry Initiative; Lapunzina P. Parra A, et al. Among authors: ballesta martinez mj. Clin Genet. 2024 Nov;106(5):614-624. doi: 10.1111/cge.14596. Epub 2024 Aug 1. Clin Genet. 2024. PMID: 39091142
Association between coffee consumption and total dietary caffeine intake with cognitive functioning: cross-sectional assessment in an elderly Mediterranean population.
Paz-Graniel I, Babio N, Becerra-Tomás N, Toledo E, Camacho-Barcia L, Corella D, Castañer-Niño O, Romaguera D, Vioque J, Alonso-Gómez ÁM, Wärnberg J, Martínez JA, Serra-Majem L, Estruch R, Tinahones FJ, Fernandez-Aranda F, Lapetra J, Pintó X, Tur JA, García-Rios A, Bueno-Cavanillas A, Gaforio JJ, Matía-Martín P, Daimiel L, Sánchez VM, Vidal J, Prieto-Sanchez L, Ros E, Razquin C, Mestres C, Sorli JV, Cuenca-Royo AM, Rios A, Torres-Collado L, Vaquero-Luna J, Pérez-Farinós N, Zulet MA, Sanchez-Villegas A, Casas R, Bernal-Lopez MR, Santos-Lozano JM, Corbella X, Mateos D, Buil-Cosiales P, Jiménez-Murcia S, Fernandez-Carrion R, Forcano-Gamazo L, López M, Sempere-Pascual MÁ, Moreno-Rodriguez A, Gea A, de la Torre-Fornell R, Salas-Salvadó J; PREDIMED-Plus Investigators. Paz-Graniel I, et al. Eur J Nutr. 2021 Aug;60(5):2381-2396. doi: 10.1007/s00394-020-02415-w. Epub 2020 Oct 30. Eur J Nutr. 2021. PMID: 33125576
Cross-sectional association between non-soy legume consumption, serum uric acid and hyperuricemia: the PREDIMED-Plus study.
Becerra-Tomás N, Mena-Sánchez G, Díaz-López A, Martínez-González MÁ, Babio N, Corella D, Freixer G, Romaguera D, Vioque J, Alonso-Gómez ÁM, Wärnberg J, Martínez JA, Serra-Majem L, Estruch R, Fernández-García JC, Lapetra J, Pintó X, Tur JA, López-Miranda J, Bueno-Cavanillas A, Gaforio JJ, Matía-Martín P, Daimiel L, Martín-Sánchez V, Vidal J, Vázquez C, Ros E, Razquin C, Abellán Cano I, Sorli JV, Torres L, Morey M, Navarrete-Muñoz EM, Tojal Sierra L, Crespo-Oliva E, Zulet MÁ, Sanchez-Villegas A, Casas R, Bernal-Lopez MR, Santos-Lozano JM, Corbella E, Del Mar Bibiloni M, Ruiz-Canela M, Fernández-Carrión R, Quifer M, Prieto RM, Fernandez-Brufal N, Salaverria Lete I, Cenoz JC, Llimona R, Salas-Salvadó J; PREDIMED-Plus Investigators. Becerra-Tomás N, et al. Eur J Nutr. 2020 Aug;59(5):2195-2206. doi: 10.1007/s00394-019-02070-w. Epub 2019 Aug 5. Eur J Nutr. 2020. PMID: 31385063