Hirschsprung disease, associated syndromes and genetics: a review
Amiel, J, Sproat-Emison, E, Garcia-Barcelo, M, Lantieri, F, Burzynski, G, Borrego, S, Pelet, A, Arnold, S, Miao, X, Griseri, P, Brooks, A S, Antinolo, G, de Pontual, L, Clement-Ziza, M, Munnich, A, Kashuk, C, West, K, Wong, K K-Y, Lyonnet, S, Chakravarti, A, Tam, P K-H, Ceccherini, I, Hofstra, R M W, Fernandez, R
Published in Journal of Medical Genetics (01.01.2008)
Published in Journal of Medical Genetics (01.01.2008)
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Book Review
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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Homozygosity for a frequent and weakly penetrant predisposing allele at the RET locus in sporadic Hirschsprung disease
Pelet, A, de Pontual, L, Clément-Ziza, M, Salomon, R, Mugnier, C, Matsuda, F, Lathrop, M, Munnich, A, Feingold, J, Lyonnet, S, Abel, L, Amiel, J
Published in Journal of medical genetics (01.03.2005)
Published in Journal of medical genetics (01.03.2005)
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Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development
Sanlaville, D, Etchevers, H C, Gonzales, M, Martinovic, J, Clément-Ziza, M, Delezoide, A-L, Aubry, M-C, Pelet, A, Chemouny, S, Cruaud, C, Audollent, S, Esculpavit, C, Goudefroye, G, Ozilou, C, Fredouille, C, Joye, N, Morichon-Delvallez, N, Dumez, Y, Weissenbach, J, Munnich, A, Amiel, J, Encha-Razavi, F, Lyonnet, S, Vekemans, M, Attié-Bitach, T
Published in Journal of medical genetics (01.03.2006)
Published in Journal of medical genetics (01.03.2006)
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Polyalanine expansions in human
Amiel, Jeanne, Trochet, Delphine, Clément-Ziza, Mathieu, Munnich, Arnold, Lyonnet, Stanislas
Published in Human molecular genetics (01.10.2004)
Published in Human molecular genetics (01.10.2004)
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Exclusion of WNT4 as a major gene in Rokitansky-Küster-Hauser anomaly
Clément-Ziza, Mathieu, Khen, Naziha, Gonzales, Jacques, Crétolle-Vastel, Célia, Picard, Jean-Yves, Tullio-Pelet, Anna, Besmond, Claude, Munnich, Arnold, Lyonnet, Stanislas, Nihoul-Fékété, Claire
Published in American journal of medical genetics. Part A (15.08.2005)
Published in American journal of medical genetics. Part A (15.08.2005)
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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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Characterization of a putative type IV aminophospholipid transporter P-type ATPase
Flamant, Stéphane, Pescher, Pascale, Lemercier, Brigitte, Clément-Ziza, Mathieu, Képès, Franois, Fellous, Marc, Milon, Geneviève, Marchal, Gilles, Besmond, Claude
Published in Mammalian genome (01.01.2003)
Published in Mammalian genome (01.01.2003)
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