Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease
de Pontual, L., Pelet, A., Clement-Ziza, M., Trochet, D., Antonarakis, S.E., Attie-Bitach, T., Beales, P.L., Blouin, J.-L., Dastot-Le Moal, F., Dollfus, H., Goossens, M., Katsanis, N., Touraine, R., Feingold, J., Munnich, A., Lyonnet, S., Amiel, J.
Published in Human mutation (01.08.2007)
Published in Human mutation (01.08.2007)
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Journal Article
Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis
Niel, F, Martin, J, Dastot-Le Moal, F, Costes, B, Boissier, B, Delattre, V, Goossens, M, Girodon, E
Published in Journal of medical genetics (01.11.2004)
Published in Journal of medical genetics (01.11.2004)
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A94 NEW INSIGHTS IN IPF: Contribution Of Mutations In Genes Encoding Proteins Of The Surfactant Metabolism To Idiopathic Interstitial Pneumonia And Idiopathic Pulmonary Fibrosis In A Cohort Of 265 Families
Nathan, N, Borie, R, Kannengiesser, C, Le Moal, F Dastot, Nunes, H, Valeyre, D, Reynaud-Gaubert, M, Marchand-Adam, S, Naccache, J-M, Prevot, G, Delacourt, C, Marguet, C, Biet, D Israel, Thumerelle, C, Deschildre, A, Reix, P, Cottin, V, Dalphin, M-L, Gondouin, A, Picard, C, Girault, V, Legendre, M, Gouya, L, Crestani, B, Amselem, S, Clement, A
Published in American journal of respiratory and critical care medicine (01.01.2016)
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Published in American journal of respiratory and critical care medicine (01.01.2016)
Journal Article
B62 THE BIOLOGY OF SCARRING. WHERE ARE WE NOW: Sftpa1 Mutation In Familial Idiopathic Interstitial Pneumonia And Lung Cancer
Nathan, N, Giraud, V, Picard, C, Nunes, H, Le Moal, F Dastot, Duquesnoy, P, Copin, B, Reynaud-Gaubert, M, Valeyre, D, Couderc, L-J, Chinet, T, Borie, R, Crestani, B, Nau, V, Tissier, S, Galeron, L, Ligniville, A De, Kuziner, N, Simansour, M, Hendili, L Mansour, Legendre, M, Kannengiesser, C, Coulomb, A, Gouya, L, Amselem, S, Clement, A
Published in American journal of respiratory and critical care medicine (01.01.2016)
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Published in American journal of respiratory and critical care medicine (01.01.2016)
Journal Article
Contribution Of Mutations In Genes Encoding Proteins Of The Surfactant Metabolism To Idiopathic Interstitial Pneumonia And Idiopathic Pulmonary Fibrosis In A Cohort Of 265 Families
Nathan, N., Borie, R., Kannengiesser, C., Le Moal, F. Dastot, Nunes, H., Valeyre, D., Reynaud-Gaubert, M., Marchand-Adam, Sylvain, Naccache, J. -M., Prévôt, G., Delacourt, Christophe, Marguet, C., Biet, D. Israel, Thumerelle, C., Deschildre, A., Reix, P., Cottin, V., Dalphin, M. -L., Gondouin, A., Picard, C., Girault, V., Legendre, M., Gouya, L., Crestani, B., Amselem, S., Clement, A.
Published in American journal of respiratory and critical care medicine (2016)
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Published in American journal of respiratory and critical care medicine (2016)
Journal Article
Syndromic Short Stature in Patients with a Germline Mutation in the LIM Homeobox LHX4
Machinis, Kalotina, Pantel, Jacques, Netchine, Irène, Léger, Juliane, Camand, Olivier J.A., Sobrier, Marie-Laure, Moal, Florence Dastot-Le, Duquesnoy, Philippe, Abitbol, Marc, Czernichow, Paul, Amselem, Serge
Published in American journal of human genetics (01.11.2001)
Published in American journal of human genetics (01.11.2001)
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Journal Article
Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease
CACHEUX, Valère, DASTOT-LE MOAL, Florence, KÄÄRIÄINEN, Helena, BONDURAND, Nadège, RINTALA, Risto, BOISSIER, Brigitte, WILSON, Meredith, MOWAT, David, GOOSSENS, Michel
Published in Human molecular genetics (01.07.2001)
Published in Human molecular genetics (01.07.2001)
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Screening of LHX2 in patients presenting growth retardation with posterior pituitary and ocular abnormalities
Pérez, Christelle, Dastot-Le Moal, Florence, Collot, Nathalie, Legendre, Marie, Abadie, Isabelle, Bertrand, Anne-Marie, Amselem, Serge, Sobrier, Marie-Laure
Published in European journal of endocrinology (01.07.2012)
Published in European journal of endocrinology (01.07.2012)
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Journal Article
Recurrence of Mowat–Wilson syndrome in siblings with the same proven mutation
McGaughran, Julie, Sinnott, Stephen, Moal, Florence Dastot‐Le, Wilson, Meredith, Mowat, David, Sutton, Bridget, Goossens, Michel
Published in American journal of medical genetics. Part A (01.09.2005)
Published in American journal of medical genetics. Part A (01.09.2005)
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Journal Article
Sftpa1 Mutation In Familial Idiopathic Interstitial Pneumonia And Lung ă Cancer
Nathan, N., Giraud, V., Picard, C., Nunes, H., Le Moal, F. Ă Dastot, Duquesnoy, P., Copin, B., Reynaud-Gaubert, M., Ă Valeyre, D., Couderc, L. -J., Chinet, T., Borie, R., Ă Crestani, B., Nau, V., Tissier, S., Galeron, L., de Ă Ligniville, A., Kuziner, N., Simansour, M., Hendili, L. Mansour Ă, Legendre, M., Kannengiesser, C., Coulomb, A., Gouya, L., Ă Amselem, S., Clément, Annick
Published in American journal of respiratory and critical care medicine (2016)
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Published in American journal of respiratory and critical care medicine (2016)
Journal Article
Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B
Wilson, Meredith, Mowat, David, Dastot-Le Moal, Florence, Cacheux, Valère, Kääriäinen, Helena, Cass, Danny, Donnai, Dian, Clayton-Smith, Jill, Townshend, Sharron, Curry, Cynthia, Gattas, Michael, Braddock, Stephen, Kerr, Bronwyn, Aftimos, Salim, Zehnwirth, Harry, Barrey, Catherine, Goossens, Michel
Published in American journal of medical genetics. Part A (15.06.2003)
Published in American journal of medical genetics. Part A (15.06.2003)
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Pure direct duplication (12)(q24.1 → q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies
Doco-Fenzy, Martine, Mauran, Pierre, Marie Lebrun, Jean, Bock, Sylvie, Bednarek, Nathalie, Struski, Stéphanie, Albuisson, Juliette, Ardalan, Azarnouche, Collot, Nathalie, Schneider, Anouck, Dastot-Le Moal, Florence, Gaillard, Dominique, Goossens, Michel
Published in American journal of medical genetics. Part A (01.02.2006)
Published in American journal of medical genetics. Part A (01.02.2006)
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Journal Article
Epistatic interactions with a common hypomorphicRET allele in syndromic Hirschsprung disease
de Pontual, L., Pelet, A., Clement-Ziza, M., Trochet, D., Antonarakis, S.E., Attie-Bitach, T., Beales, P.L., Blouin, J.-L., Dastot-Le Moal, F., Dollfus, H., Goossens, M., Katsanis, N., Touraine, R., Feingold, J., Munnich, A., Lyonnet, S., Amiel, J.
Published in Human mutation (01.08.2007)
Published in Human mutation (01.08.2007)
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Isolation and Expression of the Human hPF20 Gene Orthologous to Chlamydomonas pf20 . Evaluation as a Candidate for Axonemal Defects of Respiratory Cilia and Sperm Flagella
Pennarun, Gaelle, Bridoux, Anne-Marie, Escudier, Estelle, Dastot-Le Moal, Florence, Cacheux, Valere, Amselem, Serge, Duriez, Benedicte
Published in American journal of respiratory cell and molecular biology (01.03.2002)
Published in American journal of respiratory cell and molecular biology (01.03.2002)
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Journal Article
Fond génétique partagé entre la pneumopathie interstitielle diffuse associée à la polyarthrite rhumatoïde et la fibrose pulmonaire idiopathique
Juge, P.A., Borie, R., Kannengiesser, C., Gazal, S., Revy, P., Wemeau-Stervinou, L., Debray, M.P., Ottaviani, S., Marchand-Adam, S., Nathan, N., Thabut, G., Richez, C., Nunes, H., Callebaut, I., Justet, A., Leulliot, N., Bonnefond, A., Salgado, D., Richette, P., Desvignes, J.P., Lioté, H., Froguel, P., Allanore, Y., Sand, O., Dromer, C., Flipo, R.M., Clément, A., Béroud, C., Sibilia, J., Coustet, B., Cottin, V., Boissier, M.C., Wallaert, B., Schaeverbeke, T., Le Moal, F. Dastot, Frazier-Mironer, A., Ménard, C., Soubrier, M., Saindenberg, N., Valeyre, D., Amselem, S., Boileau, C., Crestani, B., Dieudé, P.
Published in Revue du rhumatisme (Ed. française : 1993) (01.11.2016)
Published in Revue du rhumatisme (Ed. française : 1993) (01.11.2016)
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