BMPER Mutation in Diaphanospondylodysostosis Identified by Ancestral Autozygosity Mapping and Targeted High-Throughput Sequencing

Autor Funari, Vincent A., Krakow, Deborah, Nevarez, Lisette, Chen, Zugen, Funari, Tara L., Vatanavicharn, Nithiwat, Wilcox, William R., Rimoin, David L., Nelson, Stanley F., Cohn, Daniel H.
Vydáno 2010

Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia

Autor Krakow, Deborah, Vriens, Joris, Camacho, Natalia, Luong, Phi, Deixler, Hannah, Funari, Tara L., Bacino, Carlos A., Irons, Mira B., Holm, Ingrid A., Sadler, Laurie, Okenfuss, Ericka B., Janssens, Annelies, Voets, Thomas, Rimoin, David L., Lachman, Ralph S., Nilius, Bernd, Cohn, Daniel H.
Vydáno 2009

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia

Autor Rock, Matthew J, Prenen, Jean, Funari, Vincent A, Funari, Tara L, Merriman, Barry, Nelson, Stanley F, Lachman, Ralph S, Wilcox, William R, Reyno, Soraya, Quadrelli, Roberto, Vaglio, Alicia, Owsianik, Grzegorz, Janssens, Annelies, Voets, Thomas, Ikegawa, Shiro, Nagai, Toshiro, Rimoin, David L, Nilius, Bernd, Cohn, Daniel H
Vydáno 2008