Bethlem myopathy phenotypes and follow up: Description of 8 patients in the mildest end of the spectrum
Cruz, S, Figueroa-Bonaparte, S, Gallardo, E, de Becdelièvre, A, Gartioux, C, Allamand, V, Piñol, P, Rodríguez-García, M, Jiménez-Mallebrera, C, Llauger, J, González-Rodríguez, L, Cortés-Vicente, E, Illa, I, Díaz-Manera, J
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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G.P.214
Hu, Y, Donkervoot, S, Stojkovic, T, Voermans, N, Foley, A.R, Leach, M, Dastgir, J, Bolduc, V, Cullup, T, Becdelièvre, A, Yang, L, Su, H, Meilleur, K, Schindler, A, Kamsteeg, E, Richard, P, Butterfield, R, Winder, T, Crawford, T, Weiss, R, Muntoni, F, Allamand, V, Bönnemann, C
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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WS21.6 A novel 5′ alternative CFTR mRNA isoform may be a cause of CFTR dysfunction in a patient with nasal polyposis
Hinzpeter, A, de Becdelièvre, A, Bieth, E, Gameiro, C, Brémont, F, Martin, N, Costes, B, Costa, C, Aissat, A, Goossens, M, Fanen, P, Girodon, E
Published in Journal of cystic fibrosis (01.06.2013)
Published in Journal of cystic fibrosis (01.06.2013)
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4 Simple and accurate assays for targeting CFTR mutations of specific geographic/ethnic origins by PCR allelic discrimination
Vasseur, C, LeFloch, A, Costes, B, de Becdelièvre, A, Casals, T, Costa, C, Goossens, M, Girodon, E
Published in Journal of cystic fibrosis (2011)
Published in Journal of cystic fibrosis (2011)
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WS8.5 Help for the interpretation of unclassified variants: example of the UMD-CFTR-France Locus Specific Database
Theze, C, Bareil, C, Audrézet, M.-P, Duguépéroux, I, Férec, C, Girodon, E, de Becdelièvre, A, Bienvenu, T, Malinge, M.-C, Reboul, M.-P, Fergelot, P, Lalau, G, Fresquet, F, Kitzis, A, Gaston, V, Bieth, E, Claustres, M, Des Georges, M
Published in Journal of cystic fibrosis (01.06.2012)
Published in Journal of cystic fibrosis (01.06.2012)
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14 Genotype-phenotype correlations of the recurrent mRNA intron 6b splicing defect, 1002-1113_1110delGAAT
Costa, C, de Becdelièvre, A, Prulière-Escabasse, V, Gameiro, C, Guittard, C, Bassinet, L, Bienvenu, T, desGeorges, M, Giurgea, I, Goossens, M, Coste, A, Girodon, E
Published in Journal of cystic fibrosis (2011)
Published in Journal of cystic fibrosis (2011)
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Role of COMMD1 and CSN5 in transcriptional regulation of the CFTR gene
de Becdelièvre, A, Aissat, A, Drévillon, L, Hinzpeter, A, Arous, N, Fanen, P
Published in Journal of cystic fibrosis (2009)
Published in Journal of cystic fibrosis (2009)
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Journal Article
Diaphragmatic dysfunction in Collagen VI myopathies
Quijano-Roy, S, Khirani, S, Colella, M, Ramirez, A, Aloui, S, Wehbi, S, de Becdelievre, A, Carlier, R.Y, Allamand, V, Richard, P, Azzi, V, Estournet, B, Fauroux, B
Published in Neuromuscular disorders : NMD (01.02.2014)
Published in Neuromuscular disorders : NMD (01.02.2014)
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A comprehensive genotype–phenotype description of 695 cases with fetal bowel anomalies
de Becdelièvre, A, Costa, C, Jouannic, J.M, Le Floch, A, Giurgea, I, Martin, J, Médina, R, Boissier, B, Gameiro, C, Alberti-Boulmé, C, Goossens, M, Girodon, E
Published in Journal of cystic fibrosis (2010)
Published in Journal of cystic fibrosis (2010)
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Journal Article
Exonic sequence variations affecting splicing within exons 3, 4 and 5
Hinzpeter, A, Aissat, A, Golmard, L, de Becdelièvre, A, Costes, B, Goossens, M, Girodon, E, Costa, C, Fanen, P
Published in Journal of cystic fibrosis (2009)
Published in Journal of cystic fibrosis (2009)
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A new cryptic CFTR exon in mild CF
Costa, C, Prulière-Escabasse, V, Bassinet, L, Golmard, L, Gameiro, C, de Becdelièvre, A, Goossens, M, Girodon, E
Published in Journal of cystic fibrosis (2009)
Published in Journal of cystic fibrosis (2009)
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COMMD1 promotes CFTR trafficking through inhibition of ubiquitination
Drévillon, L, Tanguy, G, Saubamea, B, de Becdelièvre, A, Hinzpeter, A, Arous, N, Fanen, P
Published in Journal of cystic fibrosis (2009)
Published in Journal of cystic fibrosis (2009)
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Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution
Deconinck, N, Richard, P, Allamand, V, Behin, A, Lafôret, P, Ferreiro, A, de Becdelievre, A, Ledeuil, C, Gartioux, C, Nelson, I, Carlier, R Y, Carlier, P, Wahbi, K, Romero, N, Zabot, M T, Bouhour, F, Tiffreau, V, Lacour, A, Eymard, B, Stojkovic, T
Published in Journal of neurology, neurosurgery and psychiatry (01.12.2015)
Published in Journal of neurology, neurosurgery and psychiatry (01.12.2015)
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TRPV4 gene polymorphism as a phenotype modifier in a family with COL6-linked Bethlem myopathy
Leonard-Louis, S, Latour, P, De Becdelievre, A, Themar-Noel, C, Fournier, E, Stojkovic, T
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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4 The novel p.Cys1410 mutation causes severe neonatal CF in a Western Sub-Saharan African family
Mekki, C, Mirlesse, V, Le Floch, A, Eche, E, Rideau, A, Bienvenu, T, Girodon, E, Gérardin, M, Fanen, P, de Becdelievre, A
Published in Journal of cystic fibrosis (01.06.2017)
Published in Journal of cystic fibrosis (01.06.2017)
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P.1.7 Contiguous gene syndrome causing ColVI myopathy, dysmorphism, frontal atrophy and diaphragmatic hernia
Seferian, A.M, Vandenbrande, L, Allamand, V, de Becdelievre, A, Richard, P, Lyonnet, S, Malan, V, Servais, L
Published in Neuromuscular disorders : NMD (01.10.2013)
Published in Neuromuscular disorders : NMD (01.10.2013)
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AQP5, a second gene at play with CFTR in aquagenic palmoplantar keratoderma
Sperelakis‐Beedham, Brian, Lopez, Maureen, Bourrat, Emmanuelle, Gaitch, Natacha, Houriez, Florence, Martinez, Brigitte, Fajac, Isabelle, Burgel, Pierre‐Régis, Hickman, Geoffroy, Audrézet, Marie‐Pierre, Gonde, Delphine, Cabet, Faiza, Gerfaud‐Valentin, Mathieu, Nove‐Josserand, Raphaele, Raynal, Caroline, Pagin, Adrien, Reboul, Marie‐Pierre, Becdelièvre, Alix, Bienvenu, Thierry, Callebaut, Isabelle, Girodon, Emmanuelle
Published in Journal of the European Academy of Dermatology and Venereology (01.05.2023)
Published in Journal of the European Academy of Dermatology and Venereology (01.05.2023)
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WS21.01 AQP5 and CFTR, two genes associated with pseudo-aquagenic palmoplantar keratoderma?
Girodon, E., Lopez, M., Sperelakis-Beedham, B., Bourrat, E., Gaitch, N., Houriez, F., Martinez, B., Fajac, I., Burgel, P.-R., Hickman, G., Audrézet, M.-P., Guerrot, A.-M., Cabet, F., Gerfaud-Valentin, M., Nove-Josserand, R., Raynal, C., Pagin, A., Reboul, M.-P., De Becdelièvre, A., Callebaut, I., Bienvenu, T.
Published in Journal of cystic fibrosis (01.06.2022)
Published in Journal of cystic fibrosis (01.06.2022)
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38 Combination of CFTR mutations producing frequent complex alleles with different clinical and functional outcomes
El Seedy, A, Girodon, E, Norez, C, Pajaud, J, Pasquet, M.-C, de Becdelievre, A, Becq, F, Kitzis, A, Fanen, P, Ladeveze, V
Published in Journal of cystic fibrosis (01.06.2012)
Published in Journal of cystic fibrosis (01.06.2012)
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P.339 - Bethlem myopathy phenotypes and follow up: Description of 8 patients in the mildest end of the spectrum
Cruz, S., Figueroa-Bonaparte, S., Gallardo, E., de Becdelièvre, A., Gartioux, C., Allamand, V., Piñol, P., Rodríguez-García, M., Jiménez-Mallebrera, C., Llauger, J., González-Rodríguez, L., Cortés-Vicente, E., Illa, I., Díaz-Manera, J.
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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