A 117-kb Microdeletion Removing HOXD9–HOXD13 and EVX2 Causes Synpolydactyly

Por Goodman, Frances R., Majewski, Frank, Collins, Amanda L., Scambler, Peter J.
Publicado em 2002

Methylation mosaicism of 5′-(CGG)(n)-3′ repeats in fragile X, premutation and normal individuals

Por Genç, Bülent, Müller-Hartmann, Herbert, Zeschnigk, Michael, Deissler, Heidrun, Schmitz, Birgit, Majewski, Frank, von Gontard, Alexander, Doerfler, Walter
Publicado em 2000

Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2

Por Lehmann, Katarina, Seemann, Petra, Stricker, Sigmar, Sammar, Marai, Meyer, Birgit, Süring, Katrin, Majewski, Frank, Tinschert, Sigrid, Grzeschik, Karl-Heinz, Müller, Dietmar, Knaus, Petra, Nürnberg, Peter, Mundlos, Stefan
Publicado em 2003

p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation

Por van Bokhoven, Hans, Hamel, Ben C. J., Bamshad, Mike, Sangiorgi, Eugenio, Gurrieri, Fiorella, Duijf, Pascal H. G., Vanmolkot, Kaate R. J., van Beusekom, Ellen, van Beersum, Sylvia E. C., Celli, Jacopo, Merkx, Gerard F. M., Tenconi, Romano, Fryns, Jean Pierre, Verloes, Alain, Newbury-Ecob, Ruth A., Raas-Rotschild, Annick, Majewski, Frank, Beemer, Frits A., Janecke, Andreas, Chitayat, David, Crisponi, Giangiorgio, Kayserili, Hülya, Yates, John R. W., Neri, Giovanni, Brunner, Han G.
Publicado em 2001