Type 2 iodothyronine deiodinase expression in the cochlea before the onset of hearing

Por Campos-Barros, Angel, Amma, Lori L., Faris, Jonathan S., Shailam, Ranu, Kelley, Matthew W., Forrest, Douglas
Publicado em 2000

Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature

Por Benito-Sanz, Sara, Aza-Carmona, Miriam, Rodríguez-Estevez, Amaya, Rica-Etxebarria, Ixaso, Gracia, Ricardo, Campos-Barros, Ángel, Heath, Karen E
Publicado em 2012

Novel insight from transgenic mice into thyroid hormone resistance and the regulation of thyrotropin

Por Abel, E. Dale, Kaulbach, Helen C., Campos-Barros, Angel, Ahima, Rexford S., Boers, Mary-Ellen, Hashimoto, Koshi, Forrest, Douglas, Wondisford, Fredric E.
Publicado em 1999

Functional Characterization of MODY2 Mutations Highlights the Importance of the Fine-Tuning of Glucokinase and Its Role in Glucose Sensing

Por García-Herrero, Carmen-María, Rubio-Cabezas, Oscar, Azriel, Sharona, Gutierrez-Nogués, Angel, Aragonés, Angel, Vincent, Olivier, Campos-Barros, Angel, Argente, Jesús, Navas, María-Angeles
Publicado em 2012

A new variant in PHKA2 is associated with glycogen storage disease type IXa

Por Rodríguez-Jiménez, Carmen, Santos-Simarro, Fernando, Campos-Barros, Ángel, Camarena, Carmen, Lledín, Dolores, Vallespín, Elena, del Pozo, Ángela, Mena, Rocío, Lapunzina, Pablo, Rodríguez-Nóvoa, Sonia
Publicado no Mol Genet Metab Rep (2017)

NPPB and ACAN, Two Novel SHOX2 Transcription Targets Implicated in Skeletal Development

Por Aza-Carmona, Miriam, Barca-Tierno, Veronica, Hisado-Oliva, Alfonso, Belinchón, Alberta, Gorbenko-del Blanco, Darya, Rodriguez, Jose Ignacio, Benito-Sanz, Sara, Campos-Barros, Angel, Heath, Karen E.
Publicado em 2014

Characterization of SHOX Deletions in Léri-Weill Dyschondrosteosis (LWD) Reveals Genetic Heterogeneity and No Recombination Hotspots

Por Benito-Sanz, Sara, Gorbenko del Blanco, Darya, Huber, Céline, Thomas, N. Simon, Aza-Carmona, Miriam, Bunyan, David, Maloney, Vivienne, Argente, Jesús, Cormier-Daire, Valérie, Campos-Barros, Ángel, Heath, Karen E.
Publicado em 2006

A Novel Class of Pseudoautosomal Region 1 Deletions Downstream of SHOX Is Associated with Léri-Weill Dyschondrosteosis

Por Benito-Sanz, Sara, Thomas, N. Simon, Huber, Céline, del Blanco, Darya Gorbenko, Aza-Carmona, Miriam, Crolla, John A., Maloney, Vivienne, Argente, Jesús, Campos-Barros, Ángel, Cormier-Daire, Valérie, Heath, Karen E.
Publicado em 2005

Nonmuscle Myosin Heavy Chain IIA Mutations Define a Spectrum of Autosomal Dominant Macrothrombocytopenias: May-Hegglin Anomaly and Fechtner, Sebastian, Epstein, and Alport-Like Syn...

Por Heath, Karen E., Campos-Barros, Angel, Toren, Amos, Rozenfeld-Granot, Galit, Carlsson, Lena E., Savige, Judy, Denison, Joyce C., Gregory, Martin C., White, James G., Barker, David F, Greinacher, Andreas, Epstein, Charles J., Glucksman, Marc J., Martignetti, John A.
Publicado em 2001

Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia

Por Barca-Tierno, Verónica, Aza-Carmona, Miriam, Barroso, Eva, Heine-Suner, Damia, Azmanov, Dimitar, Rosell, Jordi, Ezquieta, Begoña, Montané, Lucia Sentchordi, Vendrell, Teresa, Cruz, Jaime, Santos, Fernando, Rodríguez, José Ignacio, Pozo, Jesús, Argente, Jesús, Kalaydjieva, Luba, Gracía, Ricardo, Campos-Barros, Ángel, Benito-Sanz, Sara, Heath, Karen E
Publicado em 2011

Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants

Por Paumard-Hernández, Beatriz, Berges-Soria, Julia, Barroso, Eva, Rivera-Pedroza, Carlos I, Pérez-Carrizosa, Virginia, Benito-Sanz, Sara, López-Messa, Eva, Santos, Fernando, García-Recuero, Ignacio I, Romance, Ana, Ballesta-Martínez, Juliana María, López-González, Vanesa, Campos-Barros, Ángel, Cruz, Jaime, Guillén-Navarro, Encarna, Sánchez del Pozo, Jaime, Lapunzina, Pablo, García-Miñaur, Sixto, Heath, Karen E
Publicado no Eur J Hum Genet (2015)