Browsing by Author "3444a8cb-2e63-45a5-a6c2-64192fcecdd4"

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    • Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing ... 
      Tenorio, Jair; Alarcón Arias, Pablo; Arias, Pedro; Dapia, Irene; Garcia Minaur, Sixto; Bralo, María Palomares; Campistol, Jaume; Climent, Salvador; Valenzuela, Irene; Ramos, Sergio; Monseny, Antonio; Grondona, Fermina; Botet, Javier; Serrano, Mercedes; Solis, Mario; Santos Simarro, Fernando; Alvarez, Sara; Teixido Tura, Gisela; Jaen, Alberto; Gordo, Gema; Rivera, María Belén; Nevado, Julián; Hernández, Alicia; Cigudosa, Juan C.; Ruiz Pérez, Víctor; Tizzano, Eduardo; Lapunzina, Pablo (Nature, 2020)
      Tatton-Brown-Rahman (TBRS) syndrome is a recently described overgrowth syndrome caused by loss of function variants in the DNMT3A gene. This gene encodes for a DNA methyltransferase 3 alpha, which is involved in epigenetic ...
    • Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of ... 
      Gallego, Diana; Leal, Fatima; Gámez, Alejandra; Castro, Margarita; Navarrete, Rosa; Sánchez Lijarcio, Obdulia; Vitoria, Isidro; Bueno Delgado, María; Belanger Quintana, Amaya; Morais, Ana; Pedrón Giner, Consuelo; García, Inmaculada; Campistol, Jaume; Artuch, Rafael; Alcaide, Carlos; Cornejo Espinoza, Verónica; Gil, David; Yahyaoui, Raquel; Desviat, Lourdes R.; Ugarte, Magdalena; Martínez, Aurora; Pérez, Belén (Wiley, 2020)
      Biallelic variants of the gene DNAJC12, which encodes a cochaperone, were recently described in patients with hyperphenylalaninemia (HPA). This paper reports the retrospective genetic analysis of a cohort of unsolved cases ...