Duplications Involving a Conserved Regulatory Element Downstream of BMP2 Are Associated with Brachydactyly Type A2

Por Dathe, Katarina, Kjaer, Klaus W., Brehm, Anja, Meinecke, Peter, Nürnberg, Peter, Neto, Jordao C., Brunoni, Decio, Tommerup, Nils, Ott, Claus E., Klopocki, Eva, Seemann, Petra, Mundlos, Stefan
Publicado em 2009

Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2

Por Seemann, Petra, Schwappacher, Raphaela, Kjaer, Klaus W., Krakow, Deborah, Lehmann, Katarina, Dawson, Katherine, Stricker, Sigmar, Pohl, Jens, Plöger, Frank, Staub, Eike, Nickel, Joachim, Sebald, Walter, Knaus, Petra, Mundlos, Stefan
Publicado em 2005

Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory e...

Por Farooq, Muhammad, Troelsen, Jesper T, Boyd, Mette, Eiberg, Hans, Hansen, Lars, Hussain, Muhammad Sajid, Rehman, Shoaib ur, Azhar, Aysha, Ali, Amjad, Bakhtiar, Syeda Marriam, Tommerup, Niels, Baig, Shahid Mahmood, Kjaer, Klaus W
Publicado em 2010