Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas

Por Santos, Savana C. L., Rizzo, Isabela M. P. O., Takata, Reinaldo I., Speck‐Martins, Carlos E., Brum, Jaime M., Sollaci, Claudio
Publicado no Mol Genet Genomic Med (2018)

19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia‐clefting syndrome phenotype

Por Abe, Kikue Terada, Rizzo, Isabela M. P. O., Coelho, Ana L. V., Sakai, Nilo, Carvalho, Daniel R., Speck‐Martins, Carlos E.
Publicado no Clin Case Rep (2018)

Low-Spin Heme b(3) in the Catalytic Center of Nitric Oxide Reductase from Pseudomonas nautica

Por Timóteo, Cristina G., Pereira, Alice S., Martins, Carlos E., Naik, Sunil G., Duarte, Américo G., Moura, José J. G., Tavares, Pedro, Huynh, Boi Hanh, Moura, Isabel
Publicado em 2011

Camelid nanobodies raised against an integral membrane enzyme, nitric oxide reductase

Por Conrath, Katja, Pereira, Alice S, Martins, Carlos E, Timóteo, Cristina G, Tavares, Pedro, Spinelli, Silvia, Kinne, Joerg, Flaudrops, Christophe, Cambillau, Christian, Muyldermans, Serge, Moura, Isabel, Moura, Jose J G, Tegoni, Mariella, Desmyter, Aline
Publicado em 2009

Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX)

Por Perez-Siles, Gonzalo, Grant, Adrienne, Ellis, Melina, Ly, Carolyn, Kidambi, Aditi, Khalil, Mamdouh, Llanos, Roxana M., La Fontaine, Sharon, Strickland, Alleene V., Züchner, Stephan, Bermeo, Sandra, Neist, Elysia, Brennan-Speranza, Tara C., Takata, Reinaldo I., Speck-Martins, Carlos E., Mercer, Julian F.B., Nicholson, Garth A., Kennerson, Marina L.
Publicado no Metallomics (2016)

Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome

Por Telegrafi, Aida, Webb, Bryn D., Robbins, Sarah M., Speck-Martins, Carlos E., FitzPatrick, David, Fleming, Leah, Redett, Richard, Dufke, Andres, Houge, Gunnar, van Harssel, Jeske J.T., Verloes, Alain, Robles, Angela, Manoli, Irini, Engle, Elizabeth C., Jabs, Ethylin Wang, Valle, David, Carey, John, Hoover-Fong, Julie E., Sobreira, Nara L.M.
Publicado no Am J Med Genet A (2017)

Missense Mutations in the Copper Transporter Gene ATP7A Cause X-Linked Distal Hereditary Motor Neuropathy

Por Kennerson, Marina L., Nicholson, Garth A., Kaler, Stephen G., Kowalski, Bartosz, Mercer, Julian F.B., Tang, Jingrong, Llanos, Roxana M., Chu, Shannon, Takata, Reinaldo I., Speck-Martins, Carlos E., Baets, Jonathan, Almeida-Souza, Leonardo, Fischer, Dirk, Timmerman, Vincent, Taylor, Philip E., Scherer, Steven S., Ferguson, Toby A., Bird, Thomas D., De Jonghe, Peter, Feely, Shawna M.E., Shy, Michael E., Garbern, James Y.
Publicado em 2010

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

Por Di Gioia, Silvio Alessandro, Connors, Samantha, Matsunami, Norisada, Cannavino, Jessica, Rose, Matthew F., Gilette, Nicole M., Artoni, Pietro, de Macena Sobreira, Nara Lygia, Chan, Wai-Man, Webb, Bryn D., Robson, Caroline D., Cheng, Long, Van Ryzin, Carol, Ramirez-Martinez, Andres, Mohassel, Payam, Leppert, Mark, Scholand, Mary Beth, Grunseich, Christopher, Ferreira, Carlos R., Hartman, Tyler, Hayes, Ian M., Morgan, Tim, Markie, David M., Fagiolini, Michela, Swift, Amy, Chines, Peter S., Speck-Martins, Carlos E., Collins, Francis S., Jabs, Ethylin Wang, Bönnemann, Carsten G., Olson, Eric N., Carey, John C., Robertson, Stephen P., Manoli, Irini, Engle, Elizabeth C.
Publicado no Nat Commun (2017)