Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia von Plaisancié, J., Ceroni, F., Holt, R., Zazo Seco, C., Calvas, P., Chassaing, N., Ragge, Nicola K.

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New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies von Ceroni, Fabiola, Aguilera-Garcia, Domingo, Chassaing, Nicolas, Bax, Dorine Arjanne, Blanco-Kelly, Fiona, Ramos, Patricia, Tarilonte, Maria, Villaverde, Cristina, da Silva, Luciana Rodrigues Jacy, Ballesta-Martínez, Maria Juliana, Sanchez-Soler, Maria Jose, Holt, Richard James, Cooper-Charles, Lisa, Bruty, Jonathan, Wallis, Yvonne, McMullan, Dominic, Hoffman, Jonathan, Bunyan, David, Stewart, Alison, Stewart, Helen, Lachlan, Katherine, Fryer, Alan, McKay, Victoria, Roume, Joëlle, Dureau, Pascal, Saggar, Anand, Griffiths, Michael, Calvas, Patrick, Ayuso, Carmen, Corton, Marta, Ragge, Nicola K

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Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development von Ceroni, Fabiola, Cicekdal, Munevver B., Holt, Richard, Sorokina, Elena, Chassaing, Nicolas, Clokie, Samuel, Naert, Thomas, Talbot, Lidiya V., Muheisen, Sanaa, Bax, Dorine A., Kesim, Yesim, Kivuva, Emma C., Vincent-Delorme, Catherine, Lienkamp, Soeren S., Plaisancié, Julie, De Baere, Elfride, Calvas, Patrick, Vleminckx, Kris, Semina, Elena V., Ragge, Nicola K.

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Anophthalmos, microphthalmos, and typical coloboma in the United Kingdom: a prospective study of incidence and risk von Shah, Shaheen P, Taylor, Amy E, Sowden, Jane C, Ragge, Nicola K, Russell-Eggitt, Isabelle, Rahi, Jugnoo S, Gilbert, Clare E

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Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits von Zha, Congyao, Farah, Carole A, Holt, Richard J, Ceroni, Fabiola, Al-Abdi, Lama, Thuriot, Fanny, Khan, Arif O, Helaby, Rana, Lévesque, Sébastien, Alkuraya, Fowzan S, Kraus, Alison, Ragge, Nicola K, Sossin, Wayne S

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

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Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia von Ceroni, Fabiola, Osborne, Daniel, Clokie, Samuel, Bax, Dorine A, Cassidy, Emma J, Dunn, Matt J, Harris, Christopher M, Self, Jay E, Ragge, Nicola K

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Bone morphogenetic protein 7 (BMP7) mutations are associated with variable ocular, brain, ear, palate, and skeletal anomalies von Wyatt, Alexander W, Osborne, Robert J, Stewart, Helen, Ragge, Nicola K

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

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Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein–Taybi syndrome von Menke, Leonie A., Gardeitchik, Thatjana, Hammond, Peter, Heimdal, Ketil R., Houge, Gunnar, Hufnagel, Sophia B., Ji, Jianling, Johansson, Stefan, Kant, Sarina G., Kinning, Esther, Leon, Eyby L., Newbury‐Ecob, Ruth, Paolacci, Stefano, Pfundt, Rolph, Ragge, Nicola K., Rinne, Tuula, Ruivenkamp, Claudia, Saitta, Sulagna C., Sun, Yu, Tartaglia, Marco, Terhal, Paulien A., van Essen, Anthony J., Vigeland, Magnus D., Xiao, Bing, Hennekam, Raoul C.

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Expanding the phenotype of the X-linked BCOR microphthalmia syndromes von Ragge, Nicola, Isidor, Bertrand, Bitoun, Pierre, Odent, Sylvie, Giurgea, Irina, Cogné, Benjamin, Deb, Wallid, Vincent, Marie, Le Gall, Jessica, Morton, Jenny, Lim, Derek, Le Meur, Guylène, Zazo Seco, Celia, Zafeiropoulou, Dimitra, Bax, Dorine, Zwijnenburg, Petra, Arteche, Anara, Swafiri, Saoud Tahsin, Cleaver, Ruth, McEntagart, Meriel, Kini, Usha, Newman, William, Ayuso, Carmen, Corton, Marta, Herenger, Yvan, Jeanne, Médéric, Calvas, Patrick, Chassaing, Nicolas

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Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis von Zazo-Seco, Celia, Plaisancie, Julie, Bitoun, Pierre, Corton, Marta, Arteche, Ana, Ayuso, Carmen, Schneider, Adele, Zafeiropoulou, Dimitra, Gilissen, Christian, Roche, Olivier, Fremont, Felix, Calvas, Patrick, Slavotinek, Anne, Ragge, Nicola, Chassaing, Nicolas

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Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations von Ragge, Nicola K., Brown, Alison G., Poloschek, Charlotte M., Lorenz, Birgit, Henderson, R. Alex, Clarke, Michael P., Russell-Eggitt, Isabelle, Fielder, Alistair, Gerrelli, Dianne, Martinez-Barbera, Juan Pedro, Ruddle, Piers, Hurst, Jane, Collin, J. Richard O., Salt, Alison, Cooper, Simon T., Thompson, Pamela J., Sisodiya, Sanjay M., Williamson, Kathleen A., FitzPatrick, David R., Heyningen, Veronica van, Hanson, Isabel M.

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Mutations in SOX2 cause anophthalmia von FitzPatrick, David R, Fantes, Judy, Ragge, Nicola K, Lynch, Sally-Ann, McGill, Niolette I, Collin, J. Richard O, Howard-Peebles, Patricia N, Hayward, Caroline, Vivian, Anthony J, Williamson, Kathy, van Heyningen, Veronica

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Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies von Iseri, Sibel Ugur, Osborne, Robert J, Farrall, Martin, Wyatt, Alexander William, Mirza, Ghazala, Nürnberg, Gudrun, Kluck, Christian, Herbert, Helen, Martin, Angela, Hussain, Muhammad Sajid, Collin, J. Richard O, Lathrop, Mark, Nürnberg, Peter, Ragoussis, Jiannis, Ragge, Nicola K

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SOX2 anophthalmia syndrome von Ragge, Nicola K., Lorenz, Birgit, Schneider, Adele, Bushby, Kate, de Sanctis, Luisa, de Sanctis, Ugo, Salt, Alison, Collin, J. Richard O., Vivian, Anthony J., Free, Samantha L., Thompson, Pamela, Williamson, Kathleen A., Sisodiya, Sanjay M., van Heyningen, Veronica, FitzPatrick, David R.

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novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency von Ashkenazi-Hoffnung, Liat, Lebenthal, Yael, Wyatt, Alexander W, Ragge, Nicola K, Dateki, Sumito, Fukami, Maki, Ogata, Tsutomu, Phillip, Moshe, Gat-Yablonski, Galia

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Molecular analysis of FOXC1 in subjects presenting with severe developmental eye anomalies von Kaur, Kulvinder, Ragge, Nicola K, Ragoussis, Jiannis

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Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report von Gupta, Asheeta, Colmenero, Isabel, Ragge, Nicola K, Blakely, Emma L, He, Langping, McFarland, Robert, Taylor, Robert W, Vogt, Julie, Milford, David V

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Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators von Gestri, Gaia, Osborne, Robert J, Wyatt, Alexander W, Gerrelli, Dianne, Gribble, Susan, Stewart, Helen, Fryer, Alan, Bunyan, David J, Prescott, Katrina, Collin, J. Richard O, Fitzgerald, Tomas, Robinson, David, Carter, Nigel P, Wilson, Stephen W, Ragge, Nicola K

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