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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FOXE3 mutations: genotype‐phenotype correlations von Plaisancié, J., Ragge, N.K., Dollfus, H., Kaplan, J., Lehalle, D., Francannet, C., Morin, G., Colineaux, H., Calvas, P., Chassaing, N.

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Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations von Chassaing, N, Martin, L, Calvas, P, Le Bert, M, Hovnanian, A

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Implication of non-coding PAX6 mutations in aniridia von Plaisancié, Julie, Tarilonte, M., Ramos, P., Jeanton-Scaramouche, C., Gaston, V., Dollfus, H., Aguilera, D., Kaplan, J., Fares-Taie, L., Blanco-Kelly, F., Villaverde, C., Francannet, C., Goldenberg, A., Arroyo, I., Rozet, J. M., Ayuso, C., Chassaing, N., Calvas, P., Corton, M.

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Prenatal diagnosis of Norrie disease based on ultrasound findings von Dubucs, C., Merveille, M., Kessler, S., Sevely, A., Chassaing, N., Calvas, P.

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Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia von Chassaing, N., Causse, A., Vigouroux, A., Delahaye, A., Alessandri, J.-L., Boespflug-Tanguy, O., Boute-Benejean, O., Dollfus, H., Duban-Bedu, B., Gilbert-Dussardier, B., Giuliano, F., Gonzales, M., Holder-Espinasse, M., Isidor, B., Jacquemont, M.-L., Lacombe, D., Martin-Coignard, D., Mathieu-Dramard, M., Odent, S., Picone, O., Pinson, L., Quelin, C., Sigaudy, S., Toutain, A., Thauvin-Robinet, C., Kaplan, Josseline, Calvas, Patrick

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Artifacts and main lesions in fetal ocular histology von Dubucs, C., Chassaing, N., Khung-Savatovsky, S., Aziza, J., Courtade-Saïdi, M.

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Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia von Chassaing, N, Ragge, N, Kariminejad, A, Buffet, A, Ghaderi-Sohi, S, Martinovic, J, Calvas, P

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Dental and extra‐oral clinical features in 41 patients with WNT10A gene mutations: A multicentric genotype–phenotype study von Tardieu, C., Jung, S., Niederreither, K., Prasad, M., Hadj‐Rabia, S., Philip, N., Mallet, A., Consolino, E., Sfeir, E., Noueiri, B., Chassaing, N., Dollfus, H., Manière, M.C., Bloch‐Zupan, A., Clauss, F.

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Linear lesions: A key dermatological feature of X-linked ectodermal dysplasia in a young girl von Linder, C, Monteil, L, Chassaing, N, Costa-Mendes, L, Mazereeuw-Hautier, J

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Re-focusing on Agnathia-Otocephaly complex von Dubucs, C., Chassaing, N., Sergi, C., Aubert-Mucca, M., Attié-Bitach, T., Lacombe, D., Thauvin-Robinet, C., Arpin, S., Perez, M. J., Cabrol, C., Chen, C. P., Aziza, J., Colin, E., Martinovic, J., Calvas, P., Plaisancié, Julie

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Évolution des techniques de diagnostic en génétique von Vigouroux, A., Chassaing, N.

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Evolution of genetic testing techniques von Vigouroux, A, Chassaing, N

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The RaDiCo AC‐OEIL : a French rare disease cohort dedicated to ocular developmental anomalies in children von CALVAS, P., Jamot, L., Weinbach, J., Chassaing, N., RaDiCo Team, T.

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Manifestations of pseudoxanthoma elasticum in childhood von Naouri, M., Boisseau, C., Bonicel, P., Daudon, P., Bonneau, D., Chassaing, N., Martin, L.

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Syndromic manifestations in aniridia patients with PAX6 point mutations von Calvas, P., Chassaing, N., Kaplan, J., Rozet, J.M.

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Confirmation of RAX gene involvement in human anophthalmia von Lequeux, L, Rio, M, Vigouroux, A, Titeux, M, Etchevers, H, Malecaze, F, Chassaing, N, Calvas, P

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4q25 microdeletion encompassing PITX2: A patient presenting with tetralogy of Fallot and dental anomalies without ocular features von Vande Perre, P., Zazo Seco, C., Patat, O., Bouneau, L., Vigouroux, A., Bourgeois, D., El Hout, S., Chassaing, N., Calvas, P.

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Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia von Chassaing, N., Bourthoumieu, S., Cossee, M., Calvas, P., Vincent, M.-C.

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Specific gene in microphthalmia von Rozet, J.M., Fares‐Taïe, L., Chassaing, N., Gerber, S., Kaplan, J., Ragge, N., Calvas, P.

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