A new highly penetrant form of obesity due to deletions on chromosome 16p11.2
Froguel, P, Beckmann, J. S, Walters, R. G, Jacquemont, S, Valsesia, A, de Smith, A. J, Martinet, D, Andersson, J, Falchi, M, Chen, F, Andrieux, J, Lobbens, S, Delobel, B, Stutzmann, F, El-Sayed Moustafa, J. S, Chèvre, J.-C, Lecoeur, C, Vatin, V, Bouquillon, S, Buxton, J. L, Boute, O, Holder-Espinasse, M, Cuisset, J.-M, Lemaitre, M.-P, Ambresin, A.-E, Brioschi, A, Gaillard, M, Giusti, V, Fellmann, F, Ferrarini, A, Hadjikhani, N, Campion, D, Guilmatre, A, Goldenberg, A, Calmels, N, Mandel, J.-L, Le Caignec, C, David, A, Isidor, B, Cordier, M.-P, Dupuis-Girod, S, Labalme, A, Sanlaville, D, Béri-Dexheimer, M, Jonveaux, P, Leheup, B, Õunap, K, Bochukova, E. G, Henning, E, Keogh, J, Ellis, R. J, MacDermot, K. D, van Haelst, M. M, Vincent-Delorme, C, Plessis, G, Touraine, R, Philippe, A, Malan, V, Mathieu-Dramard, M, Chiesa, J, Blaumeiser, B, Kooy, R. F, Caiazzo, R, Pigeyre, M, Balkau, B, Sladek, R, Bergmann, S, Mooser, V, Waterworth, D, Reymond, A, Vollenweider, P, Waeber, G, Kurg, A, Palta, P, Esko, T, Metspalu, A, Nelis, M, Elliott, P, Hartikainen, A.-L, McCarthy, M. I, Peltonen, L, Carlsson, L, Jacobson, P, Sjöström, L, Huang, N, Hurles, M. E, O'Rahilly, S, Farooqi, I. S, Männik, K, Jarvelin, M.-R, Pattou, F, Meyre, D, Walley, A. J, Coin, L. J. M, Blakemore, A. I. F
Published in Nature (London) (04.02.2010)
Published in Nature (London) (04.02.2010)
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Journal Article
Intranuclear Inclusions of Expanded Polyglutamine Protein in Spinocerebellar Ataxia Type 3
Paulson, H.L, Perez, M.K, Trottier, Y, Trojanowski, J.Q, Subramony, S.H, Das, S.S, Vig, P, Mandel, J.-L, Fischbeck, K.H, Pittman, R.N
Published in Neuron (Cambridge, Mass.) (01.08.1997)
Published in Neuron (Cambridge, Mass.) (01.08.1997)
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Journal Article
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease
Muller, Jean, Stoetzel, C, Vincent, M. C, Leitch, C. C, Laurier, V, Danse, J. M, Hellé, S, Marion, V, Bennouna-Greene, V, Vicaire, S, Megarbane, A, Kaplan, J, Drouin-Garraud, V, Hamdani, M, Sigaudy, S, Francannet, C, Roume, J, Bitoun, P, Goldenberg, A, Philip, N, Odent, S, Green, J, Cossée, M, Davis, E. E, Katsanis, N, Bonneau, D, Verloes, A, Poch, O, Mandel, J. L, Dollfus, H
Published in Human genetics (01.05.2010)
Published in Human genetics (01.05.2010)
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Journal Article
Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway
BLONDEAU, Francois, LAPORTE, Jocelyn, BODIN, Stephane, SUPERTI-FURGA, Giulio, PAYRASTRE, Bernard, MANDEL, Jean-Louis
Published in Human molecular genetics (22.09.2000)
Published in Human molecular genetics (22.09.2000)
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Journal Article
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
Dürr, Alexandra, Cossee, Mireille, Agid, Yves, Campuzano, Victoria, Mignard, Claude, Penet, Christiane, Mandel, Jean-Louis, Brice, Alexis, Koenig, Michel
Published in The New England journal of medicine (17.10.1996)
Published in The New England journal of medicine (17.10.1996)
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Journal Article
Frataxin is Reduced in Friedreich Ataxia Patients and is Associated with Mitochondrial Membranes
Campuzano, Victoria, Montermini, Laura, Lutz, Yves, Cova, Lidia, Hindelang, Colette, Jiralerspong, Sarn, Trottier, Yvon, Kish, Stephen J., Faucheux, Baptiste, Trouillas, Paul, Authier, François J., Dürr, Alexandra, Mandel, Jean-Louis, Vescovi, Angelo, Pandolfo, Massimo, Koenig, Michel
Published in Human molecular genetics (01.10.1997)
Published in Human molecular genetics (01.10.1997)
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Journal Article
Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing
Aliferis, K., Hellé, S., Gyapay, G., Duchatelet, S., Stoetzel, C., Mandel, J.-L., Dollfus, H.
Published in Ophthalmic genetics (01.03.2012)
Published in Ophthalmic genetics (01.03.2012)
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Journal Article
Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome
Trivier, Elisabeth, De Cesare, Dario, Jacquot, Sylvie, Pannetier, Solange, Zackai, Elaine, Young, Ian, Mandel, Jean-Louis, Sassone-Corsi, Paolo, Hanauer, André
Published in Nature (London) (12.12.1996)
Published in Nature (London) (12.12.1996)
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Journal Article
A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast
Laporte, Jocelyn, Mandel, Jean-Louis, Kioschis, Petra, Kretz, Christine, Klauck, Sabine M, Dahl, Niklas, Hu, Ling Jia, Coy, Johannes F, Poustka, Annemarie
Published in Nature genetics (01.06.1996)
Published in Nature genetics (01.06.1996)
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Journal Article
Adult centronuclear myopathies: A hospital-based study
Echaniz-Laguna, A., Biancalana, V., Böhm, J., Tranchant, C., Mandel, J.-L., Laporte, J.
Published in Revue neurologique (01.08.2013)
Published in Revue neurologique (01.08.2013)
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Journal Article
Characterization of the Myotubularin Dual Specificity Phosphatase Gene Family from Yeast to Human
Laporte, Jocelyn, Blondeau, François, Buj-Bello, Anna, Tentler, Dimtry, Kretz, Christine, Dahl, Niklas, Mandel, Jean-Louis
Published in Human molecular genetics (01.10.1998)
Published in Human molecular genetics (01.10.1998)
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Journal Article
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis
M'hamdi, O., Redin, C., Stoetzel, C., Ouertani, I., Chaabouni, M., Maazoul, F., M'rad, R., Mandel, J.L., Dollfus, H., Muller, J., Chaabouni, H.
Published in Clinical genetics (01.02.2014)
Published in Clinical genetics (01.02.2014)
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Journal Article
Instability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome
Oberlé, I., Rousseau, F., Heitz, D., Kretz, C., Devys, D., Hanauer, A., Boué, J., Bertheas, M. F., Mandel, J. L.
Published in Science (American Association for the Advancement of Science) (24.05.1991)
Published in Science (American Association for the Advancement of Science) (24.05.1991)
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Journal Article
The myotubularin family: from genetic disease to phosphoinositide metabolism
Laporte, Jocelyn, Blondeau, François, Buj-Bello, Anna, Mandel, Jean-Louis
Published in Trends in Genetics (01.04.2001)
Published in Trends in Genetics (01.04.2001)
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Book Review
Journal Article
Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein
Mandel, Jean-Louis, Inoue, Keizo, Arai, Hiroyuki, Arita, Makoto, Hentati, Fayçal, Hamida, Mongi Ben, Koenig, Michel, Ouahchi, Karim, Sokol, Ronald, Kayden, Herbert
Published in Nature genetics (01.02.1995)
Published in Nature genetics (01.02.1995)
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Journal Article
Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
Mosser, Jean, Douar, Anne-Marie, Sarde, Claude-Olivier, Kioschis, Petra, Feil, Robert, Moser, Hugo, Poustka, Anne-Marie, Mandel, Jean-Louis, Aubourg, Patrick
Published in Nature (London) (25.02.1993)
Published in Nature (London) (25.02.1993)
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