Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders
Fokstuen, S, Makrythanasis, P, Hammar, E, Guipponi, M, Ranza, E, Varvagiannis, K, Santoni, F A, Albarca-Aguilera, M, Poleggi, M E, Couchepin, F, Brockmann, C, Mauron, A, Hurst, S A, Moret, C, Gehrig, C, Vannier, A, Bevillard, J, Araud, T, Gimelli, S, Stathaki, E, Paoloni-Giacobino, A, Bottani, A, Sloan-Béna, F, Sizonenko, L D'Amato, Mostafavi, M, Hamamy, H, Nouspikel, T, Blouin, J L, Antonarakis, S E
Published in Human genomics (28.06.2016)
Published in Human genomics (28.06.2016)
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De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features
Makrythanasis, P, Moix, I, Gimelli, S, Fluss, J, Aliferis, K, Antonarakis, SE, Morris, MA, Béna, F, Bottani, A
Published in Clinical genetics (01.08.2010)
Published in Clinical genetics (01.08.2010)
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Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations
Luciani, J J, de Mas, P, Depetris, D, Mignon-Ravix, C, Bottani, A, Prieur, M, Jonveaux, P, Philippe, A, Bourrouillou, G, de Martinville, B, Delobel, B, Vallee, L, Croquette, M-F, Mattei, M-G
Published in Journal of medical genetics (01.09.2003)
Published in Journal of medical genetics (01.09.2003)
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Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions
Howald, C, Merla, G, Digilio, M C, Amenta, S, Lyle, R, Deutsch, S, Choudhury, U, Bottani, A, Antonarakis, S E, Fryssira, H, Dallapiccola, B, Reymond, A
Published in Journal of medical genetics (01.03.2006)
Published in Journal of medical genetics (01.03.2006)
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Widespread intracranial calcifications in the follow-up of a patient with cartilage-hair hypoplasia – Anauxetic dysplasia spectrum disorder: A coincidental finding?
Garcia-Tarodo, S, Bottani, A, Merlini, L, Kaelin, A, Schwitzgebel, V.M, Parvex, P, Dayer, R, Lascombes, P, Korff, C.M
Published in European journal of paediatric neurology (01.05.2015)
Published in European journal of paediatric neurology (01.05.2015)
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Thrombocytopenia-absent radius syndrome: a clinical genetic study
Greenhalgh, K L, Howell, R T, Bottani, A, Ancliff, P J, Brunner, H G, Verschuuren-Bemelmans, C C, Vernon, E, Brown, K W, Newbury-Ecob, R A
Published in Journal of medical genetics (01.12.2002)
Published in Journal of medical genetics (01.12.2002)
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412 Combination of Genomic Technologies and Consanguinity in Order to Identify Pathogenic Variants in Recessive Disorders
Makrythanasis, P, Nelis, M, Santoni, FA, Guipponi, M, Béna, F, Vanier, A, Duriaux-Sail, G, Gimelli, S, Stathaki, E, Falconnet, E, Temtamy, S, Megarbane, A, Aglan, M, Zaki, M, Fokstuen, S, Bottani, A, Masri, A, Psoni, S, Kitsiou, S, Frissyra, H, Kanavakis, E, All-Allawi, N, Sefiani, A, Al-Hait, S, Elalaoui, S, Jalkh, N, Al-Gazali, L, Al-Jasmi, F, Bouhamed, H Chaabouni, Hamamy, H, Antonarakis, SE
Published in Archives of disease in childhood (01.10.2012)
Published in Archives of disease in childhood (01.10.2012)
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Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease)
Lobrinus, J.A., Schorderet, D.F., Payot, M., Jeanrenaud, X., Bottani, A., Superti-Furga, A., Schlaepfer, J., Fromer, M., Jeannet, P.-Y.
Published in Neuromuscular disorders : NMD (01.04.2005)
Published in Neuromuscular disorders : NMD (01.04.2005)
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High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome
Bubien, Virginie, Bonnet, Françoise, Brouste, Veronique, Hoppe, Stéphanie, Barouk-Simonet, Emmanuelle, David, Albert, Edery, Patrick, Bottani, Armand, Layet, Valérie, Caron, Olivier, Gilbert-Dussardier, Brigitte, Delnatte, Capucine, Dugast, Catherine, Fricker, Jean-Pierre, Bonneau, Dominique, Sevenet, Nicolas, Longy, Michel, Caux, Frédéric, Abramowicz, Marc, Bessis, Didier, Bieth, Eric, Bérard, Valérie Bonadonaon, Bonnetblanc, Jean-Marie, Demange, Liliane, Feillet, François, Frebourg, Thierry, Giraud, Sophie, Giurgea, Irina, Heron, Delphine, Holder, Muriel, Journel, Hubert, Julia, Sophie, Kacem, Maha, Lejeune, Sophie, Leprat, Frédéric, Leroux, Dominique, Lok, Catherine, Lortholary, Alain, Lyonnet, Stanislas, Margueritte, Geneviève, Mauillon, Jacques, Mazereeuw-Hautier, Juliette, Odent, Sylvie, Penet, Clotilde, Philippe, Anne, Plauchu, Henri, Plessismenceau, Ghislaine, Plouvieron, Emmanuel, Richard, Marie-Aleth, Saadi, Abdelkrim, Saurin, Jean-Christophe, Tinat, Julie, Vabres, Pierre, Van Maldergemteil, Lionel, Vennin, Philippe, Weiller, Pierre-Jean
Published in Journal of medical genetics (01.04.2013)
Published in Journal of medical genetics (01.04.2013)
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Three novel SALL1 mutations extend the mutational spectrum in Townes-Brocks syndrome
BLANCK, CHRISTOPHER, KOHLHASE, JÜRGEN, ENGELS, SASKIA, BURFEIND, PETER, ENGEL, WOLFGANG, BOTTANI, ARMAND, PATEL, MILLAN S, KROES, HESTER Y, COBBEN, JAN M
Published in Journal of medical genetics (01.04.2000)
Published in Journal of medical genetics (01.04.2000)
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Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)
Zweier, Christiane, Peippo, Maarit M., Hoyer, Juliane, Sousa, Sérgio, Bottani, Armand, Clayton-Smith, Jill, Reardon, William, Saraiva, Jorge, Cabral, Alexandra, Göhring, Ina, Devriendt, Koen, de Ravel, Thomy, Bijlsma, Emilia K., Hennekam, Raoul C.M., Orrico, Alfredo, Cohen, Monika, Dreweke, Alexander, Reis, André, Nürnberg, Peter, Rauch, Anita
Published in American journal of human genetics (01.05.2007)
Published in American journal of human genetics (01.05.2007)
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Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature
Béna, Frédérique, Bruno, Damien L., Eriksson, Mats, van Ravenswaaij-Arts, Conny, Stark, Zornitza, Dijkhuizen, Trijnie, Gerkes, Erica, Gimelli, Stefania, Ganesamoorthy, Devika, Thuresson, Ann Charlotte, Labalme, Audrey, Till, Marianne, Bilan, Frédéric, Pasquier, Laurent, Kitzis, Alain, Dubourgm, Christele, Rossi, Massimiliano, Bottani, Armand, Gagnebin, Maryline, Sanlaville, Damien, Gilbert-Dussardier, Brigitte, Guipponi, Michel, van Haeringen, Arie, Kriek, Marjolein, Ruivenkamp, Claudia, Antonarakis, Stylianos E., Anderlid, Britt Marie, Slater, Howard R., Schoumans, Jacqueline
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.06.2013)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (01.06.2013)
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Cornelia de Lange syndrome is caused by mutations in NIPBL , the human homolog of Drosophila melanogaster Nipped-B
Rappaport, Eric, Morris, Colleen A, Bamshad, Michael J, Calof, Anne L, Li, Hui-hua, Bottani, Armand, Gillis, Lynette A, Krantz, Ian D, Wasserman, Nora, DeScipio, Cheryl, Nowaczyk, Malgorzata J M, Lander, Arthur D, McCallum, Jennifer, Jukofsky, Lori, Devoto, Marcella, Kaur, Maninder, Kawauchi, Shimako, Yaeger, Dinah, Jackson, Laird G, Carey, John C, Toriello, Helga
Published in Nature genetics (01.06.2004)
Published in Nature genetics (01.06.2004)
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TES Bolometer Arrays for the QUBIC B-Mode CMB Experiment
Marnieros, S., Ade, P., Alberro, J., Almela, A., Amico, G., Arnaldi, L., Auguste, D., Aumont, J., Azzoni, S., Banfi, S., Battaglia, P., Battistelli, E., Baù, A., Bélier, B., Bennett, D., Bergé, L., Bernard, J.-Ph, Bersanelli, M., Bigot-Sazy, M.-A., Bleurvacq, N., Bonaparte, J., Bonis, J., Bottani, A., Bunn, E., Burke, D., Buzi, D., Cavaliere, F., Chanial, P., Chapron, C., Charlassier, R., Columbro, F., Coppolecchia, A., D’alessandro, G., de Bernardis, P., de Gasperis, G., de Leo, M., de Petris, M., Dheilly, S., Dumoulin, L., Etchegoyen, A., Fasciszewski, A., Ferreyro, L., Fracchia, D., Franceschet, C., Gamboa Lerena, M., Ganga, K., García, B., García Redondo, M., Gaspard, M., Gayer, D., Gervasi, M., Giard, M., Gilles, V., Giraud-Heraud, Y., Gómez Berisso, M., Gonzalez, M., Gradziel, M., Grandsire, L., Hamilton, J.-Ch, Harari, D., Henrot-Versillé, S., Hoang, D., Incardona, F., Jules, E., Kaplan, J., Kristukat, C., Lamagna, L., Loucatos, S., Louis, T., Maffei, B., Marty, W., Masi, S., Mattei, A., May, A., Mcculloch, M., Mele, L., Melhuish, S., Mennella, A., Montier, L., Mousset, L., Mundo, L., Murphy, J., Nati, F., Olivieri, E., Oriol, C., O’sullivan, C., Paiella, A., Pajot, F., Passerini, A., Pastoriza, H., Pelosi, A., Perbost, C., Perciballi, M., Pezzotta, F., Piacentini, F., Piat, M., Piccirillo, L., Pisano, G., Platino, M., Polenta, G.
Published in Journal of low temperature physics (01.05.2020)
Published in Journal of low temperature physics (01.05.2020)
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