Publications of P. Villavicencio-Lorini

Villavicencio-Lorini, P.; Klopocki, E.; Trimborn, M.; Koll, R.; Mundlos, S.; Horn, D.: Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4. European journal og human genetics: EJHG ; the official journal of the European Society of Human Genetics 2012, p. e - e (2012)

Ott, C. E.; Hein, H.; Lohan, S.; Hoogeboom, J.; Foulds, N.; Grunhagen, J.; Stricker, S.; Villavicencio-Lorini, P.; Klopocki, E.; Mundlos, S.: Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia. Journal of Medical Genetics (London) 49 (7), pp. 437 - 441 (2012)

Horn, D.; Kapeller, J.; Rivera-Brugues, N.; Moog, U.; Lorenz-Depiereux, B.; Eck, S.; Hempel, M.; Wagenstaller, J.; Gawthrope, A.; Monaco, A. P. et al.; Bonin, M.; Riess, O.; Wohlleber, E.; Illig, T.; Bezzina, C. R.; Franke, A.; Spranger, S.; Villavicencio-Lorini, P.; Seifert, W.; Rosenfeld, J.; Klopocki, E.; Rappold, G. A.; Strom, T. M.: Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits. Human Mutation 31 (11), pp. E1851 - E1860 (2010)

Villavicencio-Lorini, P.; Kuss, P.; Friedrich, J.; Haupt, J.; Farooq, M.; Turkmen, S.; Duboule, D.; Hecht, J.; Mundlos, S.: Homeobox genes d11-d13 and a13 control mouse autopod cortical bone and joint formation. Journal of Clinical Investigation 120 (6), pp. 1994 - 2004 (2010)

Kuss, P.; Villavicencio-Lorini, P.; Witte, F.; Klose, J.; Albrecht, A. N.; Seemann, P.; Hecht, J.; Mundlos, S.: Mutant Hoxd13 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis. Journal of Clinical Investigation 119 (1), pp. 146 - 156 (2009)