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Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
Martinez-Cayuelas E, Blanco-Kelly F, Lopez-Grondona F, Swafiri ST, Lopez-Rodriguez R, Losada-Del Pozo R, Mahillo-Fernandez I, Moreno B, Rodrigo-Moreno M, Casas-Alba D, Lopez-Gonzalez A, García-Miñaúr S, Ángeles Mori M, Pacio-Minguez M, Rikeros-Orozco E, Santos-Simarro F, Cruz-Rojo J, Quesada-Espinosa JF, Sanchez-Calvin MT, Sanchez-Del Pozo J, Bernado Fonz R, Isidoro-Garcia M, Ruiz-Ayucar I, Alvarez-Mora MI, Blanco-Lago R, De Azua B, Eiris J, Garcia-Peñas JJ, Gil-Fournier B, Gomez-Lado C, Irazabal N, Lopez-Gonzalez V, Madrigal I, Malaga I, Martinez-Menendez B, Ramiro-Leon S, Garcia-Hoyos M, Prieto-Matos P, Lopez-Pison J, Aguilera-Albesa S, Alvarez S, Fernández-Jaén A, Llano-Rivas I, Gener-Querol B, Ayuso C, Arteche-Lopez A, Palomares-Bralo M, Cueto-González A, Valenzuela I, Martinez-Monseny A, Lorda-Sanchez I, Almoguera B. Martinez-Cayuelas E, et al. Among authors: alvarez s. J Med Genet. 2022 Nov 29:jmedgenet-2022-108632. doi: 10.1136/jmg-2022-108632. Online ahead of print. J Med Genet. 2022. PMID: 36446582
A public resource of baseline data from the Alzheimer's Prevention Initiative Autosomal-Dominant Alzheimer's Disease Trial.
Reiman EM, Pruzin JJ, Rios-Romenets S, Brown C, Giraldo M, Acosta-Baena N, Tobon C, Hu N, Chen Y, Ghisays V, Enos J, Goradia DD, Lee W, Luo J, Malek-Ahmadi M, Protas H, Thomas RG, Chen K, Su Y, Boker C, Mastroeni D, Alvarez S, Quiroz YT, Langbaum JB, Sink KM, Lopera F, Tariot PN; and the API ADAD Colombia Trial Group. Reiman EM, et al. Among authors: alvarez s. Alzheimers Dement. 2022 Nov 14. doi: 10.1002/alz.12843. Online ahead of print. Alzheimers Dement. 2022. PMID: 36373344
1,143 results