Naevoid acanthosis nigricans or RAVEN (rounded and velvety epidermal naevus) and mosaic FGFR3 and FGFR2 mutations
Bessis, D., Petit, A., Battistella, M., Bourrat, E., Girard, C., Pallure, V., Marque, M., Lacour, J.‐P., Vitetta, A., Bieth, É., Selves, J., Solassol, J., Vendrell, J.
Published in British journal of dermatology (1951) (01.04.2019)
Published in British journal of dermatology (1951) (01.04.2019)
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Medical, psychological and social features in a large cohort of adults with Prader-Willi syndrome: experience from a dedicated centre in France
Laurier, V., Lapeyrade, A., Copet, P., Demeer, G., Silvie, M., Bieth, E., Coupaye, M., Poitou, C., Lorenzini, F., Labrousse, F., Molinas, C., Tauber, M., Thuilleaux, D., Jauregi, J.
Published in Journal of intellectual disability research (01.05.2015)
Published in Journal of intellectual disability research (01.05.2015)
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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
Genetic counseling for cystic fibrosis: A basic model with new challenges
Bieth, E., Nectoux, J., Girardet, A., Gruchy, N., Mittre, H., Laurans, M., Guenet, D., Brouard, J., Gerard, M.
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.02.2020)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.02.2020)
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Journal Article
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families
Willems, M, Geneviève, D, Borck, G, Baumann, C, Baujat, G, Bieth, E, Edery, P, Farra, C, Gerard, M, Héron, D, Leheup, B, Le Merrer, M, Lyonnet, S, Martin-Coignard, D, Mathieu, M, Thauvin-Robinet, C, Verloes, A, Colleaux, L, Munnich, A, Cormier-Daire, V
Published in Journal of medical genetics (01.12.2010)
Published in Journal of medical genetics (01.12.2010)
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The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy
Bergougnoux, A., Billet, A., Ka, C., Heller, M., Degrugillier, F., Vuillaume, M.-L., Thoreau, V., Sasorith, S., Bareil, C., Thèze, C., Ferec, C., Gac, G. Le, Bienvenu, T., Bieth, E., Gaston, V., Lalau, G., Pagin, A., Malinge, M.-C., Dufernez, F., Lemonnier, L., Koenig, M., Fergelot, P., Claustres, M., Taulan-Cadars, M., Kitzis, A., Reboul, M.-P., Becq, F., Fanen, P., Mekki, C., Audrezet, M.-P., Girodon, E., Raynal, C.
Published in Journal of cystic fibrosis (01.05.2023)
Published in Journal of cystic fibrosis (01.05.2023)
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The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening
Thauvin-Robinet, C, Munck, A, Huet, F, Génin, E, Bellis, G, Gautier, E, Audrézet, M-P, Férec, C, Lalau, G, Georges, M Des, Claustres, M, Bienvenu, T, Gérard, B, Boisseau, P, Cabet-Bey, F, Feldmann, D, Clavel, C, Bieth, E, Iron, A, Simon-Bouy, B, Costa, C, Medina, R, Leclerc, J, Hubert, D, Nové-Josserand, R, Sermet-Gaudelus, I, Rault, G, Flori, J, Leroy, S, Wizla, N, Bellon, G, Haloun, A, Perez-Martin, S, d’Acremont, G, Corvol, H, Clément, A, Houssin, E, Binquet, C, Bonithon-Kopp, C, Alberti-Boulmé, C, Morris, M A, Faivre, L, Goossens, M, Roussey, M
Published in Journal of medical genetics (01.11.2009)
Published in Journal of medical genetics (01.11.2009)
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Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutation
Guissart, C, Dubucs, C, Raynal, C, Girardet, A, Tran Mau Them, F, Debant, V, Rouzier, C, Boureau-Wirth, A, Haquet, E, Puechberty, J, Bieth, E, Dupin Deguine, D, Khau Van Kien, P, Brechard, M.P, Pritchard, V, Koenig, M, Claustres, M, Vincent, M.C
Published in Journal of cystic fibrosis (01.03.2017)
Published in Journal of cystic fibrosis (01.03.2017)
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Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study
Thauvin-Robinet, C, Cossée, M, Cormier-Daire, V, Van Maldergem, L, Toutain, A, Alembik, Y, Bieth, E, Layet, V, Parent, P, David, A, Goldenberg, A, Mortier, G, Héron, D, Sagot, P, Bouvier, A M, Huet, F, Cusin, V, Donzel, A, Devys, D, Teyssier, J R, Faivre, L
Published in Journal of medical genetics (01.01.2006)
Published in Journal of medical genetics (01.01.2006)
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Journal Article
WS15.2 Massive parallel sequencing of the CFTR gene: a collaborative validation in diagnostic practice highlights strengths and limitations
Said, O, Audrézet, M.-P, Gaston, V, Reboul, M.-P, Férec, C, Bieth, E, Maurin, P, Raynal, C, Bergougnoux, A, Pagin, A, Lalau, G, Bienvenu, T, Girodon, E
Published in Journal of cystic fibrosis (01.06.2017)
Published in Journal of cystic fibrosis (01.06.2017)
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Efficiency of targeted NGS on myopathies and muscular dystrophy genes: Importance of an optimized strategy of capture, sequencing, bioinformatic analyses and multidisciplinary approach for variants detection and interpretation
Zenagui, R, Lacourt, D, Juntas-Morales, R, Sole, G, Cances, C, River, F, Renard, D, Walther-Louvier, U, Ferrer-Monasterio, X, Espil, C, Arné-Bes, M, Cintas, P, Uro-Coste, E, Martin Negrier, M, Rigau, V, Bieth, E, Goizet, C, Claustres, M, Koenig, M, Cossee, M
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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Van der Woude syndrome: An unrecognised clinical entity
Abbo, O, Vaysse, F, Bieth, E, Galinier, P
Published in Annales de chirurgie plastique et esthétique (01.02.2014)
Published in Annales de chirurgie plastique et esthétique (01.02.2014)
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Journal Article
WS15.1 CysMA , a new tool for the interpretation of rare CFTR missense variants
Sasorith, S, Baux, D, Bareil, C, Bergougnoux, A, Colomb-Jung, V, Thèze, C, Audrézet, M.-P, Férec, C, Bienvenu, T, Girodon, E, Fanen, P, Mekki, C, Bieth, E, Gaston, V, Fergelot, P, Reboul, M.-P, Kitzis, A, Lalau, G, Pagin, A, Malinge, M.-C, Claustres, M, Raynal, C
Published in Journal of cystic fibrosis (01.06.2017)
Published in Journal of cystic fibrosis (01.06.2017)
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Journal Article
Lethal form of keratitis-ichthyosis-deafness syndrome caused by the GJB2 mutation p.Ser17Phe
Mazereeuw-Hautier, Juliette, Chiaverini, Christine, Jonca, Nathalie, Bieth, Eric, Dreyfus, Isabelle, Maza, Aude, Cardot-Leccia, Nathalie, Perrin, Christophe, Lacour, Jean-Philippe
Published in Acta dermato-venereologica (01.01.2014)
Published in Acta dermato-venereologica (01.01.2014)
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Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations
Witsch-Baumgartner, M, Schwentner, I, Gruber, M, Benlian, P, Bertranpetit, J, Bieth, E, Chevy, F, Clusellas, N, Estivill, X, Gasparini, G, Giros, M, Kelley, R I, Krajewska-Walasek, M, Menzel, J, Miettinen, T, Ogorelkova, M, Rossi, M, Scala, I, Schinzel, A, Schmidt, K, Schönitzer, D, Seemanova, E, Sperling, K, Syrrou, M, Talmud, P J, Wollnik, B, Krawczak, M, Labuda, D, Utermann, G
Published in Journal of medical genetics (01.04.2008)
Published in Journal of medical genetics (01.04.2008)
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Journal Article
4 Valuable collaboration between a molecular CFTR database and a national CF registry: the French experience
Bareil, C, Lemonnier, L, Dehillotte, C, Colomb-Jung, V, Thèze, C, Audrézet, M.-P, Férec, C, Bienvenu, T, Girodon, E, Fanen, P, Mekki, C, Bieth, E, Gaston, V, Fergelot, P, Reboul, M.-P, Kitzis, A, Lalau, G, Pagin, A, Malinge, M.-C, Raynal, C, Claustres, M
Published in Journal of cystic fibrosis (01.06.2016)
Published in Journal of cystic fibrosis (01.06.2016)
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Journal Article
Twenty‐five novel mutations including duplications in the ATP7A gene
Moizard, M‐P, Ronce, N, Blesson, S, Bieth, E, Burglen, L, Mignot, C, Mortemousque, I, Marmin, N, Dessay, B, Danesino, C, Feillet, F, Castelnau, P, Toutain, A, Moraine, C, Raynaud, M
Published in Clinical genetics (01.03.2011)
Published in Clinical genetics (01.03.2011)
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Journal Article
Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I
Saal, S, Faivre, L, Aral, Bernard, Gigot, N, Toutain, A, Van Maldergem, L, Destree, A, Maystadt, I, Cosyns, J-P, Jouk, P-S, Loeys, B, Chauveau, D, Bieth, E, Layet, V, Mathieu, M, Lespinasse, J, Teebi, A, Franco, B, Gautier, E, Binquet, C, Masurel-Paulet, A, Mousson, C, Gouyon, J-B, Huet, F, Thauvin-Robinet, C
Published in Clinical genetics (01.03.2010)
Published in Clinical genetics (01.03.2010)
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Web Resource
Branchio-oculo-facial syndrome
Frascari, F, Bieth, E, Galinier, P, Just, W, Mazereeuw-Hautier, J
Published in Annales de dermatologie et de vénéréologie (01.08.2012)
Published in Annales de dermatologie et de vénéréologie (01.08.2012)
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