Lamin a Truncation in Hutchinson-Gilford Progeria
De Sandre-Giovannoli, Annachiara, Bernard, Rafaëlle, Cau, Pierre, Navarro, Claire, Amiel, Jeanne, Boccaccio, Irène, Lyonnet, Stanislas, Stewart, Colin L., Munnich, Arnold, Le Merrer, Martine, Lévy, Nicolas
Published in Science (American Association for the Advancement of Science) (27.06.2003)
Published in Science (American Association for the Advancement of Science) (27.06.2003)
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Journal Article
The Human Magel2 Gene and Its Mouse Homologue Are Paternally Expressed and Mapped to the Prader-Willi Region
Boccaccio, Irène, Glatt-Deeley, Heather, Watrin, Françoise, Roëckel, Nathalie, Lalande, Marc, Muscatelli, Françoise
Published in Human molecular genetics (01.12.1999)
Published in Human molecular genetics (01.12.1999)
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Founder Effect and Estimation of the Age of the c.892C>T (p.Arg298Cys) Mutation in LMNA Associated to Charcot‐Marie‐Tooth Subtype CMT2B1 in Families from North Western Africa
Hamadouche, T., Poitelon, Y., Genin, E., Chaouch, M., Tazir, M., Kassouri, N., Nouioua, S., Chaouch, A., Boccaccio, I., Benhassine, T., De Sandre‐Giovannoli, A., Grid, D., Lévy, N., Delague, V.
Published in Annals of human genetics (01.09.2008)
Published in Annals of human genetics (01.09.2008)
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Journal Article
Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11
Sandre-Giovannoli, A De, Delague, V, Hamadouche, T, Chaouch, M, Krahn, M, Boccaccio, I, Maisonobe, T, Chouery, E, Jabbour, R, Atweh, S, Grid, D, Mégarbané, A, Lévy, N
Published in Journal of medical genetics (01.03.2005)
Published in Journal of medical genetics (01.03.2005)
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Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes
Aubourg, P, Krahn, M, Bernard, R, Nguyen, K, Forzano, O, Boccaccio, I, Delague, V, De Sandre-Giovannoli, A, Pouget, J, Depétris, D, Mattei, M-G, Philip, N, Lévy, N
Published in Journal of medical genetics (01.03.2005)
Published in Journal of medical genetics (01.03.2005)
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Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations
De Sandre-Giovannoli, A, Chaouch, M, Boccaccio, I, Bernard, R, Delague, V, Grid, D, Vallat, J M, Lévy, N, Mégarbané, A
Published in Journal of medical genetics (01.07.2003)
Published in Journal of medical genetics (01.07.2003)
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G.O.3 Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H
Delague, V, Jacquier, A, Hamadouche, T, Poitelon, Y, Baudot, C, Boccaccio, I, Chouery, E, Chaouch, M, Kassouri, N, Jabbour, R, Grid, D, Mégarbané, A, Haase, G, Levy, N
Published in Neuromuscular disorders : NMD (2007)
Published in Neuromuscular disorders : NMD (2007)
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Mutations in FGD4 Encoding the Rho GDP/GTP Exchange Factor FRABIN Cause Autosomal Recessive Charcot-Marie-Tooth Type 4H
Delague, Valérie, Jacquier, Arnaud, Hamadouche, Tarik, Poitelon, Yannick, Baudot, Cécile, Boccaccio, Irène, Chouery, Eliane, Chaouch, Malika, Kassouri, Nora, Jabbour, Rosette, Grid, Djamel, Mégarbané, André, Haase, Georg, Lévy, Nicolas
Published in American journal of human genetics (01.07.2007)
Published in American journal of human genetics (01.07.2007)
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Journal Article
Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors
Navarro, Claire L., Cadiñanos, Juan, Sandre-Giovannoli, Annachiara De, Bernard, Rafaëlle, Courrier, Sébastien, Boccaccio, Irène, Boyer, Amandine, Kleijer, Wim J., Wagner, Anja, Giuliano, Fabienne, Beemer, Frits A., Freije, Jose M., Cau, Pierre, Hennekam, Raoul C.M., López-Otín, Carlos, Badens, Catherine, Lévy, Nicolas
Published in Human molecular genetics (01.06.2005)
Published in Human molecular genetics (01.06.2005)
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Disruption of the mouse Necdin gene results in hypothalamic and behavioral alterations reminiscent of the human Prader-Willi syndrome
MUSCATELLI, Francoise, DJOHER NORA ABROUS, MASSACRIER, Annick, BOCCACCIO, Irène, LE MOAL, Michel, CAU, Pierrre, CREMER, Harold
Published in Human molecular genetics (12.12.2000)
Published in Human molecular genetics (12.12.2000)
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An atypical mitogen-activated protein kinase (MAPK) homologue expressed in gametocytes of the human malaria parasite Plasmodium falciparum. Identification of a MAPK signature
Dorin, D, Alano, P, Boccaccio, I, Cicéron, L, Doerig, C, Sulpice, R, Parzy, D
Published in The Journal of biological chemistry (15.10.1999)
Published in The Journal of biological chemistry (15.10.1999)
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Journal Article
P.I.3 Recent advances in defective prelamin A associated syndromes
Navarro, C.L., DeSandre-Giovannoli, A., Boccaccio, I., Badens, C., Cau, P., Lopez-Otin, C., Lévy, N.
Published in Neuromuscular disorders : NMD (01.10.2006)
Published in Neuromuscular disorders : NMD (01.10.2006)
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Journal Article
Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balance translocation t(2;13) (q37.3;q12.11) and identification of candidate genes
AUBOURG, P, KRAHN, M, MATTEI, M.-G, PHILIP, N, LEVY, N, BERNARD, R, NGUYEN, K, FORZANO, O, BOCCACCIO, I, DELAGUE, V, DESANDRE-GIOVANNOLI, A, POUGET, J, DEPETRIS, D
Published in Journal of medical genetics (2005)
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Published in Journal of medical genetics (2005)
Journal Article
Disruption of the mouse Necdin gene results in hypothalamic and behavioral alterations reminiscent of the human Prader-Willi syndrome
Muscatelli, F, Abrous, D N, Massacrier, A, Boccaccio, I, Le Moal, M, Cau, P, Cremer, H
Published in Human molecular genetics (12.12.2000)
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Published in Human molecular genetics (12.12.2000)
Journal Article
The H89 cAMP‐dependent protein kinase inhibitor blocks Plasmodium falciparum development in infected erythrocytes
Syin, Chiang, Parzy, Daniel, Traincard, Francois, Boccaccio, Irène, Joshi, Manju B., Lin, David T., Yang, Xiao‐Ming, Assemat, Karine, Doerig, Christian, Langsley, Gordon
Published in European journal of biochemistry (01.09.2001)
Published in European journal of biochemistry (01.09.2001)
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Fragile X syndrome in an extended family with special reference to an affected male with Klinefelter syndrome
Voelckel, M A, Pellissier, M C, Piquet, C, N'Guyen, C, Boccaccio, I, Philip, N, Mattei, J F
Published in American journal of medical genetics (01.02.1991)
Published in American journal of medical genetics (01.02.1991)
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MET INHIBITORS FOR ENHANCING RADIOTHERAPY EFFICACY
BOCCACCIO CARLA, COMOGLIO PAOLO MARIA, DE SANTIS RITA, PETRONZELLI FIORELLA
Year of Publication 26.09.2012
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Year of Publication 26.09.2012
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