Items where Author is "Selleri, Licia"
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Alankarage, Dimuthu and Szot, Justin O and Pachter, Nick and Slavotinek, Anne and Selleri, Licia and Shieh, Joseph T and Winlaw, David and Giannoulatou, Eleni and Chapman, Gavin and Dunwoodie, Sally L (2020) Functional characterisation of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease. Human Molecular Genetics. ISSN 0964-6906
Slavotinek, Anne and Risolino, Maurizio and Losa, Marta and Cho, Megan T and Monaghan, Kristin G. and Schneidman-Duhovny, Dina and Parisotto, Sarah and Herkert, Johanna C and Stegmann, Alexander P.A. and Miller, Kathryn and Shur, Natasha and Chui, Jacqueline and Muller, Eric and DeBrosse, Suzanne and Szot, Justin O and Chapman, Gavin and Pachter, Nicholas S and Winlaw, David S and Mendelsohn, Bryce A. and Dalton, Joline and Sarafoglou, Kyriakie and Karachunski, Peter I. and Lewis, Jane M and Pedro, Helio and Dunwoodie, Sally L and Selleri, Licia and Shieh, Joseph (2017) De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects. Human Molecular Genetics, 26 (24). pp.4849-4860. ISSN 0964-6906 (Not OA)
Koss, Matthew and Bolze, Alexandre and Brendolan, Andrea and Saggese, Matilde and Capellini, Terence D and Bojilova, Ekaterina and Boisson, Bertrand and Prall, Owen W J and Elliott, David A and Solloway, Mark and Lenti, Elisa and Hidaka, Chisa and Chang, Ching-Pin and Mahlaoui, Nizar and Harvey, Richard P and Casanova, Jean-Laurent and Selleri, Licia (2012) Congenital asplenia in mice and humans with mutations in a Pbx/Nkx2-5/p15 module. Developmental cell, 22 (5). pp.913-26. ISSN 1878-1551 (PMC OA)