Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia
Plaisancié, J., Ceroni, F., Holt, R., Zazo Seco, C., Calvas, P., Chassaing, N., Ragge, Nicola K.
Published in Human genetics (01.09.2019)
Published in Human genetics (01.09.2019)
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FOXE3 mutations: genotype‐phenotype correlations
Plaisancié, J., Ragge, N.K., Dollfus, H., Kaplan, J., Lehalle, D., Francannet, C., Morin, G., Colineaux, H., Calvas, P., Chassaing, N.
Published in Clinical genetics (01.04.2018)
Published in Clinical genetics (01.04.2018)
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Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach
Liautard-Haag, C., Durif, G., VanGoethem, C., Baux, D., Louis, A., Cayrefourcq, L., Lamairia, M., Willems, M., Zordan, C., Dorian, V., Rooryck, C., Goizet, C., Chaussenot, A., Monteil, L., Calvas, P., Miry, C., Favre, R., Le Boette, E., Fradin, M., Roux, A. F., Cossée, M., Koenig, M., Alix-Panabière, C., Guissart, C., Vincent, M. C.
Published in Scientific reports (06.07.2022)
Published in Scientific reports (06.07.2022)
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Prenatal diagnosis of Norrie disease based on ultrasound findings
Dubucs, C., Merveille, M., Kessler, S., Sevely, A., Chassaing, N., Calvas, P.
Published in Ultrasound in obstetrics & gynecology (01.07.2019)
Published in Ultrasound in obstetrics & gynecology (01.07.2019)
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Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations
Chassaing, N, Martin, L, Calvas, P, Le Bert, M, Hovnanian, A
Published in Journal of Medical Genetics (01.12.2005)
Published in Journal of Medical Genetics (01.12.2005)
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Book Review
Implication of non-coding PAX6 mutations in aniridia
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.
Published in Human genetics (01.10.2018)
Published in Human genetics (01.10.2018)
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Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia
Chassaing, N, Ragge, N, Kariminejad, A, Buffet, A, Ghaderi-Sohi, S, Martinovic, J, Calvas, P
Published in Clinical genetics (01.03.2013)
Published in Clinical genetics (01.03.2013)
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Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants
Lerat, J., Magdelaine, C., Lunati, A., Dzugan, H., Dejoie, C., Rego, M., Beze Beyrie, P., Bieth, E., Calvas, P., Cintas, P., Delaubrier, A., Demurger, F., Gilbert-Dussardier, B., Goizet, C., Journel, H., Laffargue, F., Magy, L., Taithe, F., Toutain, A., Urtizberea, J.A., Sturtz, F., Lia, A.S.
Published in Journal of the neurological sciences (15.11.2019)
Published in Journal of the neurological sciences (15.11.2019)
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Journal Article
Re-focusing on Agnathia-Otocephaly complex
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
Published in Clinical oral investigations (01.03.2021)
Published in Clinical oral investigations (01.03.2021)
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Syndromic manifestations in aniridia patients with PAX6 point mutations
Calvas, P., Chassaing, N., Kaplan, J., Rozet, J.M.
Published in Acta ophthalmologica (Oxford, England) (01.10.2015)
Published in Acta ophthalmologica (Oxford, England) (01.10.2015)
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Journal Article
Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia
Chassaing, N., Bourthoumieu, S., Cossee, M., Calvas, P., Vincent, M.-C.
Published in Human mutation (01.03.2006)
Published in Human mutation (01.03.2006)
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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
Genetics in microphthalmia
Calvas, P., Davis, E., Ragge, N., Fares‐Taïe, L., Srour, M., Michaud, J., Kaplan, J., Rozet, J.M., Chassaing, N.
Published in Acta ophthalmologica (Oxford, England) (01.10.2016)
Published in Acta ophthalmologica (Oxford, England) (01.10.2016)
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Journal Article
Specific gene in microphthalmia
Rozet, J.M., Fares‐Taïe, L., Chassaing, N., Gerber, S., Kaplan, J., Ragge, N., Calvas, P.
Published in Acta ophthalmologica (Oxford, England) (01.10.2016)
Published in Acta ophthalmologica (Oxford, England) (01.10.2016)
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Journal Article
Confirmation of RAX gene involvement in human anophthalmia
Lequeux, L, Rio, M, Vigouroux, A, Titeux, M, Etchevers, H, Malecaze, F, Chassaing, N, Calvas, P
Published in Clinical genetics (01.10.2008)
Published in Clinical genetics (01.10.2008)
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Journal Article
Intracellular Ferritin Accumulation in Neural and Extraneural Tissue Characterizes a Neurodegenerative Disease Associated with a Mutation in the Ferritin Light Polypeptide Gene
VIDAL, R, GHETTI, B, TAKAO, M, BREFEL-COURBON, C, URO-COSTE, E, GLAZIER, B S, SIANI, V, BENSON, M D, CALVAS, P, MIRAVALLE, L, RASCOL, O, DELISLE, M B
Published in Journal of neuropathology and experimental neurology (01.04.2004)
Published in Journal of neuropathology and experimental neurology (01.04.2004)
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OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract
Reynier, P, Amati-Bonneau, P, Verny, C, Olichon, A, Simard, G, Guichet, A, Bonnemains, C, Malecaze, F, Malinge, M C, Pelletier, J B, Calvas, P, Dollfus, H, Belenguer, P, Malthièry, Y, Lenaers, G, Bonneau, D
Published in Journal of medical genetics (01.09.2004)
Published in Journal of medical genetics (01.09.2004)
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Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases
Chassaing, N., Cluzeau, C., Bal, E., Guigue, P., Vincent, M-C., Viot, G., Ginisty, D., Munnich, A., Smahi, A., Calvas, P.
Published in British journal of dermatology (1951) (01.05.2010)
Published in British journal of dermatology (1951) (01.05.2010)
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