Molecular analysis of FOXC1 in subjects presenting with severe developmental eye anomalies

por Kaur, Kulvinder, Ragge, Nicola K., Ragoussis, Jiannis
Publicado 2009

Parent-of-origin effects in SOX2 anophthalmia syndrome

por Osborne, Robert J., Kurinczuk, Jennifer J., Ragge, Nicola K.
Publicado 2011

Genetic defects of GDF6 in the zebrafish out of sight mutant and in human eye developmental anomalies

por den Hollander, Anneke I, Biyanwila, Janisha, Kovach, Peter, Bardakjian, Tanya, Traboulsi, Elias I, Ragge, Nicola K, Schneider, Adele, Malicki, Jarema
Publicado 2010

Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report

por Gupta, Asheeta, Colmenero, Isabel, Ragge, Nicola K., Blakely, Emma L., He, Langping, McFarland, Robert, Taylor, Robert W., Vogt, Julie, Milford, David V.
Publicado 2016

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

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

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