Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD)

Por Albuisson, Juliette, Schmitt, Sébastien, Baron, Sabine, Bézieau, Stéphane, Benito-Sanz, Sara, Heath, Karen E
Publicado em 2012

Achondroplasia with 47, xxy karyotype: a case report of the neonatal diagnosis of an extremely unusual association

Por Ros-Pérez, Purificación, Regidor, Francisco J, Colino, Esmeralda, Martínez-Payo, Cristina, Barroso, Eva, Heath, Karen E
Publicado em 2012

The Gene for May-Hegglin Anomaly Localizes to a <1-Mb Region on Chromosome 22q12.3-13.1

Por Martignetti, John A., Heath, Karen E., Harris, Juliette, Bizzaro, Nicola, Savoia, Anna, Balduini, Carlo L., Desnick, Robert J.
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

Chromosome 1p31.1p31.3 Deletion in a Patient with Craniosynostosis, Central Nervous System and Renal Malformation: Case Report and Review of the Literature

Por Rivera-Pedroza, Carlos I., Barraza-García, Jimena, Paumard-Hernández, Beatriz, Nevado, Julian, Orbea-Gallardo, Carlos, Sánchez del Pozo, Jaime, Heath, Karen E.
Publicado no Mol Syndromol (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

Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape

Por Verdin, Hannah, Fernández-Miñán, Ana, Benito-Sanz, Sara, Janssens, Sandra, Callewaert, Bert, Waele, Kathleen De, Schepper, Jean De, François, Inge, Menten, Björn, Heath, Karen E., Gómez-Skarmeta, José Luis, Baere, Elfride De
Publicado no Sci Rep (2015)

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

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

Por Caparrós-Martín, José A., De Luca, Alessandro, Cartault, François, Aglan, Mona, Temtamy, Samia, Otaify, Ghada A., Mehrez, Mennat, Valencia, María, Vázquez, Laura, Alessandri, Jean-Luc, Nevado, Julián, Rueda-Arenas, Inmaculada, Heath, Karen E., Digilio, Maria Cristina, Dallapiccola, Bruno, Goodship, Judith A., Mill, Pleasantine, Lapunzina, Pablo, Ruiz-Perez, Victor L.
Publicado no Hum Mol Genet (2015)

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)

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

Por Caparros‐Martin, Jose A., Aglan, Mona S., Temtamy, Samia, Otaify, Ghada A., Valencia, Maria, Nevado, Julián, Vallespin, Elena, Del Pozo, Angela, Prior de Castro, Carmen, Calatrava‐Ferreras, Lucia, Gutierrez, Pilar, Bueno, Ana M., Sagastizabal, Belen, Guillen‐Navarro, Encarna, Ballesta‐Martinez, Maria, Gonzalez, Vanesa, Basaran, Sarenur Y., Buyukoglan, Ruksan, Sarikepe, Bilge, Espinoza‐Valdez, Cecilia, Cammarata‐Scalisi, Francisco, Martinez‐Glez, Victor, Heath, Karen E., Lapunzina, Pablo, Ruiz‐Perez, Victor L.
Publicado no Mol Genet Genomic Med (2016)

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations

Por Gkourogianni, Alexandra, Andrew, Melissa, Tyzinski, Leah, Crocker, Melissa, Douglas, Jessica, Dunbar, Nancy, Fairchild, Jan, Funari, Mariana F. A., Heath, Karen E., Jorge, Alexander A. L., Kurtzman, Tracey, LaFranchi, Stephen, Lalani, Seema, Lebl, Jan, Lin, Yuezhen, Los, Evan, Newbern, Dorothee, Nowak, Catherine, Olson, Micah, Popovic, Jadranka, Průhová, Štěpánka, Elblova, Lenka, Quintos, Jose Bernardo, Segerlund, Emma, Sentchordi, Lucia, Shinawi, Marwan, Stattin, Eva-Lena, Swartz, Jonathan, del Angel, Ariadna González, Cuéllar, Sinhué Diaz, Hosono, Hidekazu, Sanchez-Lara, Pedro A., Hwa, Vivian, Baron, Jeffrey, Nilsson, Ola, Dauber, Andrew
Publicado no J Clin Endocrinol Metab (2016)