Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia

por Ceroni, Fabiola, Osborne, Daniel, Clokie, Samuel, Bax, Dorine A., Cassidy, Emma J., Dunn, Matt J., Harris, Christopher M., Self, Jay E., Ragge, Nicola K.
Publicado 2022

Microsatellite Instability in Pediatric High Grade Glioma Is Associated with Genomic Profile and Differential Target Gene Inactivation

por Viana-Pereira, Marta, Lee, Alicia, Popov, Sergey, Bax, Dorine A., Al-Sarraj, Safa, Bridges, Leslie R., Stávale, João N., Hargrave, Darren, Jones, Chris, Reis, Rui M.
Publicado 2011

Correction: Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia

por Kesim, Yesim, Ceroni, Fabiola, Damián, Alejandra, Blanco-Kelly, Fiona, Ayuso, Carmen, Williamson, Kathy, Paquis-Flucklinger, Véronique, Bax, Dorine A, Plaisancié, Julie, Rieubland, Claudine, Chamlal, Mostafa, Cortón, Marta, Chassaing, Nicolas, Calvas, Patrick, Ragge, Nicola K
Publicado 2023

Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia

por Kesim, Yesim, Ceroni, Fabiola, Damián, Alejandra, Blanco-Kelly, Fiona, Ayuso, Carmen, Williamson, Kathy, Paquis-Flucklinger, Véronique, Bax, Dorine A, Plaisancié, Julie, Rieubland, Claudine, Chamlal, Mostafa, Cortón, Marta, Chassaing, Nicolas, Calvas, Patrick, Ragge, Nicola K
Publicado 2023

Molecular and Phenotypic Characterisation of Paediatric Glioma Cell Lines as Models for Preclinical Drug Development

por Bax, Dorine A., Little, Suzanne E., Gaspar, Nathalie, Perryman, Lara, Marshall, Lynley, Viana-Pereira, Marta, Jones, Tania A., Williams, Richard D., Grigoriadis, Anita, Vassal, Gilles, Workman, Paul, Sheer, Denise, Reis, Rui M., Pearson, Andrew D. J., Hargrave, Darren, Jones, Chris
Publicado 2009

Mesenchymal Transition and PDGFRA Amplification/Mutation Are Key Distinct Oncogenic Events in Pediatric Diffuse Intrinsic Pontine Gliomas

por Puget, Stephanie, Philippe, Cathy, Bax, Dorine A., Job, Bastien, Varlet, Pascale, Junier, Marie-Pierre, Andreiuolo, Felipe, Carvalho, Dina, Reis, Ricardo, Guerrini-Rousseau, Lea, Roujeau, Thomas, Dessen, Philippe, Richon, Catherine, Lazar, Vladimir, Le Teuff, Gwenael, Sainte-Rose, Christian, Geoerger, Birgit, Vassal, Gilles, Jones, Chris, Grill, Jacques
Publicado 2012

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

por Holt, Richard J., Young, Rodrigo M., Crespo, Berta, Ceroni, Fabiola, Curry, Cynthia J., Bellacchio, Emanuele, Bax, Dorine A., Ciolfi, Andrea, Simon, Marleen, Fagerberg, Christina R., van Binsbergen, Ellen, De Luca, Alessandro, Memo, Luigi, Dobyns, William B., Mohammed, Alaa Afif, Clokie, Samuel J.H., Zazo Seco, Celia, Jiang, Yong-Hui, Sørensen, Kristina P., Andersen, Helle, Sullivan, Jennifer, Powis, Zöe, Chassevent, Anna, Smith-Hicks, Constance, Petrovski, Slavé, Antoniadi, Thalia, Shashi, Vandana, Gelb, Bruce D., Wilson, Stephen W., Gerrelli, Dianne, Tartaglia, Marco, Chassaing, Nicolas, Calvas, Patrick, Ragge, Nicola K.
Publicado 2019