Identification of the first homozygous intragenic deletion in the YY1AP1 gene in a consanguineous family: New insights into the phenotypic variability associated with Grange syndrome
Viora‐Dupont, E., Denommé‐Pichon, A., Chevarin, M., Patat, O., Willems, M., Bourgon, N., Bruel, A., Aubert‐Mucca, M., Galinier, M., Itier, R., Decramer, S., Piton, A., Gerard, B., Billon, C., Jeunemaitre, X., Duffourd, Y., Callier, P., Thauvin, C., Philippe, C., Faivre, L., Albuisson, J., Vitobello, A.
Published in American journal of medical genetics. Part A (01.11.2023)
Published in American journal of medical genetics. Part A (01.11.2023)
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Journal Article
4q25 microdeletion encompassing PITX2: A patient presenting with tetralogy of Fallot and dental anomalies without ocular features
Vande Perre, P., Zazo Seco, C., Patat, O., Bouneau, L., Vigouroux, A., Bourgeois, D., El Hout, S., Chassaing, N., Calvas, P.
Published in European journal of medical genetics (01.02.2018)
Published in European journal of medical genetics (01.02.2018)
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Journal Article
Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2
Patat, O., van Ravenswaaij-Arts, C.M.A., Tantau, J., Corsten-Janssen, N., van Tintelen, J.P., Dijkhuizen, T., Kaplan, J., Chassaing, N.
Published in Molecular syndromology (01.09.2013)
Published in Molecular syndromology (01.09.2013)
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Myopathie de Becker à révélation tardive : difficultés diagnostiques. À propos de deux observations
Therme, F., Sailler, L., Moulis, G., Piel-Julian, M.L., De Almeida Chaves, S., Cintas, P., Uro-Coste, E., Patat, O.
Published in La revue de medecine interne (01.12.2021)
Published in La revue de medecine interne (01.12.2021)
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