MUCCIOLO, MAFALDA
MUCCIOLO, MAFALDA
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy
2014-01-01 Reinthaler, Eva M.; Lal, Dennis; Lebon, Sebastien; Hildebrand, Michael S.; Dahl, Hans Henrik M.; Regan, Brigid M.; Feucht, Martha; Steinböck, Hannelore; Neophytou, Birgit; Ronen, Gabriel M.; Roche, Laurian; Gruber Sedlmayr, Ursula; Geldner, Julia; Haberlandt, Edda; Hoffmann, Per; Herms, Stefan; Gieger, Christian; Waldenberger, Melanie; Franke, Andre; Wittig, Michael; Schoch, Susanne; Becker, Albert J.; Hahn, Andreas; Männik, Katrin; Toliat, Mohammad R.; Winterer, Georg; Consortium, The 1. 6. p. 1. 1. 2 European Consortium; Lerche, Holger; Nürnberg, Peter; Mefford, Heather; Scheffer, Ingrid E.; Berkovic, Samuel F.; Beckmann, Jacques S.; Renieri, Alessandra; Mucciolo, Mafalda; Mencarelli, MARIA ANTONIETTA; Epicure, Consortium; Euroepinomics, Consortium; Sander, Thomas; Jacquemont, Sebastien; Reymond, Alexandre; Zimprich, Fritz; Neubauer Bernd, A.
3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age
2010-01-01 Uliana, V.; Grosso, S.; Cioni, M.; Ariani, F.; Pap, A. F. T.; Tamburello, S.; Rossi, E.; Katzaki, E.; Mucciolo, M.; Marozza, A.; Pollazzon, M.; Mencarelli, M. A.; Mari, F.; Balestri, P.; Renieri, A.
9q31.1q31.3 deletion in two patients with similar clinical features: A newly recognized microdeletion syndrome?
2014-01-01 Mucciolo, Mafalda; Magini, P.; Marozza, Annabella; Mongelli, P.; Mencarelli, MARIA ANTONIETTA; Hayek, G.; Tavalazzi, F.; Mari, Francesca; Seri, M.; Renieri, Alessandra; Graziano, C.
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders
2012-01-01 Zufferey, F; Sherr, E. H; Beckmann, N. D; Hanson, E; Maillard, A. M; Hippolyte, L; Macé, A; Ferrari, C; Kutalik, Z; Andrieux, J; Aylward, E; Barker, M; Bernier, R; Bouquillon, S; Conus, P; Delobel, B; Faucett, W. A; Goin-Kochel, R. P; Grant, E; Harewood, L; Hunter, J. V; Lebon, S; Ledbetter, D. H; Martin, C. L; Männik, K; Martinet, D; Mukherjee, P; Ramocki, M. B; Spence, S. J; Steinman, K. J; Tjernage, J; Spiro, J. E; Reymond, A; Beckmann, J. S; Chung, W. K; Jacquemont, S; Addor, M. C; Arveiler, B; Belfiore, M; Bena, F; Bernardini, L; Blanchet, P; Bonneau, D; Boute, O; Callier, P; Campion, D; Chiesa, J; Cordier, M. P; Cuisset, J. M; David, A; De Leeuw, N; De Vries, B; Didelot, G; Doco-Fenzy, M; Bedu, B. D; Dubourg, C; Dupuis-Girod, S; Fagerberg, C. R; Faivre, L; Fellmann, F; Fernandez, B. A; Fisher, R; Flori, E; Goldenberg, A; Heron, D; Holder, M; Hoyer, J; Isidor, B; Jaillard, S; Jonveaux, P; Joriot, S; Journel, H; Kooy, F; le Caignec, C; Leheup, B; Lemaitre, M. -P; Lewis, S; Malan, V; Mathieu-Dramard, M; Metspalu, A; Morice-Picard, F; Mucciolo, M; Oiglane-Shlik, E; Ounap, K; Pasquier, L; Petit, F; Philippe, A; Plessis, G; Prieur, F; Puechberty, J; Rajcan-Separovic, E; Rauch, A; Renieri, A; Rieubland, C; Rooryck, C; Rötzer, K. M; Ruiter, M; Sanlaville, D; Selmoni, S; Shen, Y; Siffredi, V; Thonney, J; Vallée, L; Van Binsbergen, E; Van der Aa, N; Van Haelst, M. M; Vigneron, J; Vincent-Delorme, C; Vittoria, D; Vulto-Van Silfhout, A. T; Witwicki, R. M; Zwolinski, S. A; Bowe, A; Beaudet, A. L; Brewton, C. M; Chu, Z; Dempsey, A. G; Evans, Y. L; Garza, S; Kanne, S. M; Laakman, A. L; Lasala, M. W; Llorens, A. V; Marzano, G; Moss, T. J; Nowell, K. P; Proud, M. B; Chen, Q; Vaughan, R; Berman, J; Blaskey, L; Hines, K; Kessler, S; Khan, S. Y; Qasmieh, S; Bibb, A. L; Paal, A. M; Page, P. Z; Smith-Packard, B; Buckner, R; Burko, J; Cavanagh, A. L; Cerban, B; Snow, A. V; Snyder, L. G; Keehn, R. M; Miller, D. T; Miller, F. K; Olson, J. E; Triantafallou, C; Visyak, N; Atwell, C; Benedetti, M; Fischbach, G. D; Greenup, M; Packer, A; Bukshpun, P; Cheong, M; Dale, C; Gobuty, S. E; Hinkley, L; Jeremy, R. J; Lee, H; Luks, T. L; Marco, E. J; Martin, A. J; Mcgovern, K. E; Nagarajan, S. S; Owen, J; Paul, B. M; Pojman, N. J; Sinha, T; Swarnakar, V; Wakahiro, M; Alupay, H; Aaronson, B; Ackerman, S; Ankenman, K; Elgin, J; Gerdts, J; Johnson, K; Reilly, B; Shaw, D; Stevens, A; Ward, T; Wenegrat, J; Roberts, T. P. L.
A potential contributory role for ciliary dysfunction in the 16p11.2 600 kb BP4-BP5 pathology
2015-01-01 Migliavacca, Eugenia; Golzio, Christelle; Männik, Katrin; Blumenthal, Ian; Oh, Edwin C.; Harewood, Louise; Kosmicki, Jack A.; Loviglio, Maria Nicla; Giannuzzi, Giuliana; Hippolyte, Loyse; Maillard, Anne M.; Alfaiz, Ali Abdullah; Witwicki, Robert; Didelot, Gérard; Van Der Werf, Ilse; Alfaiz, Ali A.; Zazhytska, Marianna; Chrast, Jacqueline; Macé, Aurélien; Bergmann, Sven; Kutalik, Zoltan; Siffredi, Vanessa; Zufferey, Flore; Martinet, Danielle; Bena, Frédérique; Rauch, Anita; Bouquillon, Sonia; Delobel, Bruno; Boute, Odile; Duban Bedu, Bénédicte; Le Caignec, Cédric; Isidor, Bertrand; Chiesa, Jean; Keren, Boris; Gilbert Dussardier, Brigitte; Touraine, Renaud; Campion, Dominique; Thambo, Caroline Rooryck; Mathieu Dramard, Michèle; Plessis, Ghislaine; Kooy, Frank; Peeters, Hilde; Ounap, Katrin; Vulto Van Silfhout, Anneke T.; De Vries, Bert B.; Van Binsbergen, Ellen; Nordgren, Ann; Mucciolo, Mafalda; Renieri, Alessandra; Rajcan Separovic, Evica; Philipps, John A.; Ellis, Richard J.; Van Haelst, Mieke M.; Andrieux, Joris; Gusella, James F.; Daly, Mark J.; Beckmann, Jacques S.; Jacquemont, Sébastien; Talkowski, Michael E.; Katsanis, Nicholas; Reymond, Alexandre
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2
2011-01-01 Uliana, V.; Marcocci, E.; Mucciolo, M.; Meloni, I.; Izzi, C.; Manno, C.; Bruttini, M.; Mari, F.; Scolari, F.; Renieri, A.; Salviati, L.
Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN)
2015-01-01 Dhanraj, Santhosh; Gunja, Sethu Madhava Rao; Deveau, Adam P.; Nissbeck, Mikael; Boonyawat, Boonchai; Coombs, Andrew J.; Renieri, Alessandra; Mucciolo, Mafalda; Marozza, Annabella; Buoni, Sabrina; Turner, Lesley; Li, Hongbing; Jarrar, Ameer; Sabanayagam, Mathura; Kirby, Melanie; Shago, Mary; Pinto, Dalila; Berman, Jason N.; Scherer, Stephen W.; Virtanen, Anders; Dror, Yigal
Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B
2011-01-01 Halgren, C.; Kjaergaard, S.; Bak, M.; Hansen, C.; El Schich, Z.; Anderson, C.; Henriksen, K.; Hjalgrim, H.; Kirchhoff, M.; Bijlsma, E.; Nielsen, M.; den Hollander, N.; Ruivenkamp, C.; Isidor, B.; Le Caignec, C.; Zannolli, R.; Mucciolo, Mafalda; Renieri, Alessandra; Mari, Francesca; Anderlid, B. M.; Andrieux, J.; Dieux, A.; Tommerup, N.; Bache, I.
Defining the effect of the 16p11.2 duplication on cognition, behavior, and medical comorbidities
2016-01-01 D'Angelo, D.; Lebon, S.; Chen, Q.; Martin-Brevet, S.; Snyder, L. G.; Hippolyte, L.; Hanson, E.; Maillard, A. M.; Faucett, W. A.; Mace, A.; Pain, A.; Bernier, R.; Chawner, S. J. R. A.; David, A.; Andrieux, J.; Aylward, E.; Baujat, G.; Caldeira, I.; Conus, P.; Ferrari, C.; Forzano, F.; Gerard, M.; Goin-Kochel, R. P.; Grant, E.; Hunter, J. V.; Isidor, B.; Jacquette, A.; Jonch, A. E.; Keren, B.; Lacombe, D.; Le Caignec, C.; Martin, C. L.; Mannik, K.; Metspalu, A.; Mignot, C.; Mukherjee, P.; Owen, M. J.; Passeggeri, M.; Rooryck-Thambo, C.; Rosenfeld, J. A.; Spence, S. J.; Steinman, K. J.; Tjernagel, J.; Van Haelst, M.; Shen, Y.; Draganski, B.; Sherr, E. H.; Ledbetter, D. H.; van den Bree, M. B. M.; Beckmann, J. S.; Spiro, J. E.; Reymond, A.; Jacquemont, S.; Chung, W. K.; Knoers, N. V. A. M.; Martinet, D.; Belfiore, M.; Cuvellier, J. -C.; Devries, B.; Delrue, M. -A.; Doco-Fenzy, M.; Lebel, R.; Leheup, B.; Lewis, S.; Mencarelli, M. A.; Minet, J. -C.; Vincent-Delorme, C.; Moerman, A.; Mucciolo, M.; Ounap, K.; Rajcan-Separovic, E.; Renieri, A.; Sanlaville, D.; Faas, B. H.; Koolen, D. A.; Vulto-Van Silfhout, A.; de Leeuw, N.; Rosanfeld, J. A.; Filges, I.; Achatz, E.; Roetzer, K. M.; Bonneau, D.; Guichet, A.; Lazaro, L.; Plessis, G.; Kroisel, P. M.; Reis, A.; Jonveaux, P.; Chantot-Bastaraud, S.; Rauch, A.; Demeer, B.; Nordgren, A.; Labalme, A.; Ferrarini, A.; Ramelli, G. P.; Guilmatre, A.; Joly-Helas, G.; Haize, S.; Layet, V.; Le Gallic, S.; de Freminville, B.; Touraine, R.; Van Binsbergen, E.; Mathieu-Dramard, M.; Barth, M.; Blaumeiser, B.; Masurel, A.; Cailler, P.; Olivier-Faivre, L.; Malacarne, M.; Coutton, C.; Dieterich, K.; Satre, V.; Wallgren-Pettersson, C.; Tensgrom, C.; Kaksonen, S.; Duban-Bedu, B.; Holder, M.; Rossi, M.; Gaillard, D.; Bock, D.; Bednarek, N.; Guillin, O.; Bizzarri, V.; Flori, E.; Silengo, M.; Kooy, R. F.; Aboura, A.; Beri, M.; Delobel, B.; Drunat, S.; Jaros, Z.; Kolk, A.; Reigo, A.; Zufferey, F.; Beckmann, N.; Faravelli, F.; Alupay, H.; Aaronson, B.; Ackerman, S.; Ankenman, K.; Anwar, A.; Atwell, C.; Bowe, A.; Beaudet, A. L.; Benedetti, M.; Berg, J.; Berman, J.; Berry, L. N.; Bibb, A. L.; Blaskey, L.; Brennan, J.; Brewton, C. M.; Buckner, R.; Bukshpun, P.; Burko, J.; Cali, P.; Cerban, B.; Chang, Y.; Cheong, M.; Chow, V.; Chu, Z.; Chudnovskaya, D.; Cornew, L.; Dale, C.; Dell, J.; Dempsey, A. G.; Deschamps, T.; Earl, R.; Edgar, J.; Elgin, J.; Endre, J.; Evans, Y. L.; Findlay, A.; Fischbach, G. D.; Fisk, C.; Fregeau, B.; Gaetz, B.; Gaetz, L.; Garza, S.; Gerdts, J.; Glenn, O.; Gobuty, S. E.; Golembski, R.; Greenup, M.; Heiken, K.; Hines, K.; Hinkley, L.; Jackson, F. I.; Jenkins, J.; Jeremy, R. J.; Johnson, K.; Kanne, S. M.; Kessler, S.; Khan, S. Y.; Ku, M.; Kuschner, E.; Laakman, A. L.; Lam, P.; Lasala, M. W.; Lee, H.; La, K.; Levy, S.; Lian, A.; Llorens, A. V.; Loftus, K.; Luks, T. L.; Marco, E. J.; Martin, S.; Martin, A. J.; Marzano, G.; Masson, C.; Mcgovern, K. E.; Keehn, R. M.; Miller, D. T.; Miller, F. K.; Moss, T. J.; Murray, R.; Nagarajan, S. S.; Nowell, K. P.; Owen, J.; Paal, A. M.; Packer, A.; Page, P. Z.; Paul, B. M.; Peters, A.; Peterson, D.; Poduri, A.; Pojman, N. J.; Porche, K.; Proud, M. B.; Qasmieh, S.; Ramocki, M. B.; Reilly, B.; Roberts, T. P. L.; Shaw, D.; Sinha, T.; Smith, B.; Snow, A.; Swarnakar, V.; Thieu, T.; Triantafallou, C.; Vaughan, R.; Wakahiro, M.; Wallace, A.; Ward, T.; Wenegrat, J.; Wolken, A.
Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome
2014-01-01 Disciglio, Vittoria; Caterina, Lo Rizzo; Mencarelli, MARIA ANTONIETTA; Mucciolo, Mafalda; Marozza, Annabella; Chiara, Di Marco; Antonio, Massarelli; Valentina, Canocchi; Margherita, Baldassarri; Ndoni, Enea; Frullanti, Elisa; Amabile, Sonia; Britt, Marie Anderlid; Kay, Metcalfe; Cédric, Le Caignec; Albert, David; Alan, Fryer; Odile, Boute; Andrieux, Joris; Donatella, Greco; Vanna, Pecile; Roberta, Battini; Antonio, Novelli; Marco, Fichera; Corrado, Romano; Mari, Francesca; Renieri, Alessandra
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA
2014-01-01 Toshiyuki, Yamamoto; Mencarelli, MARIA ANTONIETTA; Chiara Di, Marco; Mucciolo, Mafalda; Marina, Vascotto; Balestri, Paolo; Marion, Gerard; Michele Mathieu, Dramard; Joris, Andrieux; Martijn, Breuning; Mariette J. V., Hoffer; Claudia A. L., Ruivenkamp; Shino, Shimada; Noriko, Sangu; Keiko, Shimojima; Ryoji, Umezu; Hiroshi, Kawame; Mari, Matsuo; Kayoko, Saito; Renieri, Alessandra; Mari, Francesca
Uncovering recessive likely pathogenic variants, using microdeletion sindrome with unusual phenotypes
2012-01-01 Mucciolo, Mafalda; Amabile, Sonia; Bonilla, X.; Guipponi, M.; Santoni, F.; Marco, C. Di; Stefano, C. Di; Gentilini, B.; Lalatta, F.; Digiglio, M. C.; Lapi, E.; Hayek, J.; Giordano, NICOLA GIUSEPPE; Ciuoli, C.; DI CAIRANO, Giovanni; Messina, Mario; Mari, Francesca; Renieri, Alessandra; Antonarakis, S.
Titolo | Data di pubblicazione | Autore(i) | File | Abstract |
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16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy | 1-gen-2014 | Reinthaler, Eva M.; Lal, Dennis; Lebon, Sebastien; Hildebrand, Michael S.; Dahl, Hans Henrik M.; Regan, Brigid M.; Feucht, Martha; Steinböck, Hannelore; Neophytou, Birgit; Ronen, Gabriel M.; Roche, Laurian; Gruber Sedlmayr, Ursula; Geldner, Julia; Haberlandt, Edda; Hoffmann, Per; Herms, Stefan; Gieger, Christian; Waldenberger, Melanie; Franke, Andre; Wittig, Michael; Schoch, Susanne; Becker, Albert J.; Hahn, Andreas; Männik, Katrin; Toliat, Mohammad R.; Winterer, Georg; Consortium, The 1. 6. p. 1. 1. 2 European Consortium; Lerche, Holger; Nürnberg, Peter; Mefford, Heather; Scheffer, Ingrid E.; Berkovic, Samuel F.; Beckmann, Jacques S.; Renieri, Alessandra; Mucciolo, Mafalda; Mencarelli, MARIA ANTONIETTA; Epicure, Consortium; Euroepinomics, Consortium; Sander, Thomas; Jacquemont, Sebastien; Reymond, Alexandre; Zimprich, Fritz; Neubauer Bernd, A. | - | |
3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age | 1-gen-2010 | Uliana, V.; Grosso, S.; Cioni, M.; Ariani, F.; Pap, A. F. T.; Tamburello, S.; Rossi, E.; Katzaki, E.; Mucciolo, M.; Marozza, A.; Pollazzon, M.; Mencarelli, M. A.; Mari, F.; Balestri, P.; Renieri, A. | - | |
9q31.1q31.3 deletion in two patients with similar clinical features: A newly recognized microdeletion syndrome? | 1-gen-2014 | Mucciolo, Mafalda; Magini, P.; Marozza, Annabella; Mongelli, P.; Mencarelli, MARIA ANTONIETTA; Hayek, G.; Tavalazzi, F.; Mari, Francesca; Seri, M.; Renieri, Alessandra; Graziano, C. | - | |
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders | 1-gen-2012 | Zufferey, F; Sherr, E. H; Beckmann, N. D; Hanson, E; Maillard, A. M; Hippolyte, L; Macé, A; Ferrari, C; Kutalik, Z; Andrieux, J; Aylward, E; Barker, M; Bernier, R; Bouquillon, S; Conus, P; Delobel, B; Faucett, W. A; Goin-Kochel, R. P; Grant, E; Harewood, L; Hunter, J. V; Lebon, S; Ledbetter, D. H; Martin, C. L; Männik, K; Martinet, D; Mukherjee, P; Ramocki, M. B; Spence, S. J; Steinman, K. J; Tjernage, J; Spiro, J. E; Reymond, A; Beckmann, J. S; Chung, W. K; Jacquemont, S; Addor, M. C; Arveiler, B; Belfiore, M; Bena, F; Bernardini, L; Blanchet, P; Bonneau, D; Boute, O; Callier, P; Campion, D; Chiesa, J; Cordier, M. P; Cuisset, J. M; David, A; De Leeuw, N; De Vries, B; Didelot, G; Doco-Fenzy, M; Bedu, B. D; Dubourg, C; Dupuis-Girod, S; Fagerberg, C. R; Faivre, L; Fellmann, F; Fernandez, B. A; Fisher, R; Flori, E; Goldenberg, A; Heron, D; Holder, M; Hoyer, J; Isidor, B; Jaillard, S; Jonveaux, P; Joriot, S; Journel, H; Kooy, F; le Caignec, C; Leheup, B; Lemaitre, M. -P; Lewis, S; Malan, V; Mathieu-Dramard, M; Metspalu, A; Morice-Picard, F; Mucciolo, M; Oiglane-Shlik, E; Ounap, K; Pasquier, L; Petit, F; Philippe, A; Plessis, G; Prieur, F; Puechberty, J; Rajcan-Separovic, E; Rauch, A; Renieri, A; Rieubland, C; Rooryck, C; Rötzer, K. M; Ruiter, M; Sanlaville, D; Selmoni, S; Shen, Y; Siffredi, V; Thonney, J; Vallée, L; Van Binsbergen, E; Van der Aa, N; Van Haelst, M. M; Vigneron, J; Vincent-Delorme, C; Vittoria, D; Vulto-Van Silfhout, A. T; Witwicki, R. M; Zwolinski, S. A; Bowe, A; Beaudet, A. L; Brewton, C. M; Chu, Z; Dempsey, A. G; Evans, Y. L; Garza, S; Kanne, S. M; Laakman, A. L; Lasala, M. W; Llorens, A. V; Marzano, G; Moss, T. J; Nowell, K. P; Proud, M. B; Chen, Q; Vaughan, R; Berman, J; Blaskey, L; Hines, K; Kessler, S; Khan, S. Y; Qasmieh, S; Bibb, A. L; Paal, A. M; Page, P. Z; Smith-Packard, B; Buckner, R; Burko, J; Cavanagh, A. L; Cerban, B; Snow, A. V; Snyder, L. G; Keehn, R. M; Miller, D. T; Miller, F. K; Olson, J. E; Triantafallou, C; Visyak, N; Atwell, C; Benedetti, M; Fischbach, G. D; Greenup, M; Packer, A; Bukshpun, P; Cheong, M; Dale, C; Gobuty, S. E; Hinkley, L; Jeremy, R. J; Lee, H; Luks, T. L; Marco, E. J; Martin, A. J; Mcgovern, K. E; Nagarajan, S. S; Owen, J; Paul, B. M; Pojman, N. J; Sinha, T; Swarnakar, V; Wakahiro, M; Alupay, H; Aaronson, B; Ackerman, S; Ankenman, K; Elgin, J; Gerdts, J; Johnson, K; Reilly, B; Shaw, D; Stevens, A; Ward, T; Wenegrat, J; Roberts, T. P. L. | - | |
A potential contributory role for ciliary dysfunction in the 16p11.2 600 kb BP4-BP5 pathology | 1-gen-2015 | Migliavacca, Eugenia; Golzio, Christelle; Männik, Katrin; Blumenthal, Ian; Oh, Edwin C.; Harewood, Louise; Kosmicki, Jack A.; Loviglio, Maria Nicla; Giannuzzi, Giuliana; Hippolyte, Loyse; Maillard, Anne M.; Alfaiz, Ali Abdullah; Witwicki, Robert; Didelot, Gérard; Van Der Werf, Ilse; Alfaiz, Ali A.; Zazhytska, Marianna; Chrast, Jacqueline; Macé, Aurélien; Bergmann, Sven; Kutalik, Zoltan; Siffredi, Vanessa; Zufferey, Flore; Martinet, Danielle; Bena, Frédérique; Rauch, Anita; Bouquillon, Sonia; Delobel, Bruno; Boute, Odile; Duban Bedu, Bénédicte; Le Caignec, Cédric; Isidor, Bertrand; Chiesa, Jean; Keren, Boris; Gilbert Dussardier, Brigitte; Touraine, Renaud; Campion, Dominique; Thambo, Caroline Rooryck; Mathieu Dramard, Michèle; Plessis, Ghislaine; Kooy, Frank; Peeters, Hilde; Ounap, Katrin; Vulto Van Silfhout, Anneke T.; De Vries, Bert B.; Van Binsbergen, Ellen; Nordgren, Ann; Mucciolo, Mafalda; Renieri, Alessandra; Rajcan Separovic, Evica; Philipps, John A.; Ellis, Richard J.; Van Haelst, Mieke M.; Andrieux, Joris; Gusella, James F.; Daly, Mark J.; Beckmann, Jacques S.; Jacquemont, Sébastien; Talkowski, Michael E.; Katsanis, Nicholas; Reymond, Alexandre | - | |
Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2 | 1-gen-2011 | Uliana, V.; Marcocci, E.; Mucciolo, M.; Meloni, I.; Izzi, C.; Manno, C.; Bruttini, M.; Mari, F.; Scolari, F.; Renieri, A.; Salviati, L. | - | |
Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN) | 1-gen-2015 | Dhanraj, Santhosh; Gunja, Sethu Madhava Rao; Deveau, Adam P.; Nissbeck, Mikael; Boonyawat, Boonchai; Coombs, Andrew J.; Renieri, Alessandra; Mucciolo, Mafalda; Marozza, Annabella; Buoni, Sabrina; Turner, Lesley; Li, Hongbing; Jarrar, Ameer; Sabanayagam, Mathura; Kirby, Melanie; Shago, Mary; Pinto, Dalila; Berman, Jason N.; Scherer, Stephen W.; Virtanen, Anders; Dror, Yigal | - | |
Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B | 1-gen-2011 | Halgren, C.; Kjaergaard, S.; Bak, M.; Hansen, C.; El Schich, Z.; Anderson, C.; Henriksen, K.; Hjalgrim, H.; Kirchhoff, M.; Bijlsma, E.; Nielsen, M.; den Hollander, N.; Ruivenkamp, C.; Isidor, B.; Le Caignec, C.; Zannolli, R.; Mucciolo, Mafalda; Renieri, Alessandra; Mari, Francesca; Anderlid, B. M.; Andrieux, J.; Dieux, A.; Tommerup, N.; Bache, I. | - | |
Defining the effect of the 16p11.2 duplication on cognition, behavior, and medical comorbidities | 1-gen-2016 | D'Angelo, D.; Lebon, S.; Chen, Q.; Martin-Brevet, S.; Snyder, L. G.; Hippolyte, L.; Hanson, E.; Maillard, A. M.; Faucett, W. A.; Mace, A.; Pain, A.; Bernier, R.; Chawner, S. J. R. A.; David, A.; Andrieux, J.; Aylward, E.; Baujat, G.; Caldeira, I.; Conus, P.; Ferrari, C.; Forzano, F.; Gerard, M.; Goin-Kochel, R. P.; Grant, E.; Hunter, J. V.; Isidor, B.; Jacquette, A.; Jonch, A. E.; Keren, B.; Lacombe, D.; Le Caignec, C.; Martin, C. L.; Mannik, K.; Metspalu, A.; Mignot, C.; Mukherjee, P.; Owen, M. J.; Passeggeri, M.; Rooryck-Thambo, C.; Rosenfeld, J. A.; Spence, S. J.; Steinman, K. J.; Tjernagel, J.; Van Haelst, M.; Shen, Y.; Draganski, B.; Sherr, E. H.; Ledbetter, D. H.; van den Bree, M. B. M.; Beckmann, J. S.; Spiro, J. E.; Reymond, A.; Jacquemont, S.; Chung, W. K.; Knoers, N. V. A. M.; Martinet, D.; Belfiore, M.; Cuvellier, J. -C.; Devries, B.; Delrue, M. -A.; Doco-Fenzy, M.; Lebel, R.; Leheup, B.; Lewis, S.; Mencarelli, M. A.; Minet, J. -C.; Vincent-Delorme, C.; Moerman, A.; Mucciolo, M.; Ounap, K.; Rajcan-Separovic, E.; Renieri, A.; Sanlaville, D.; Faas, B. H.; Koolen, D. A.; Vulto-Van Silfhout, A.; de Leeuw, N.; Rosanfeld, J. A.; Filges, I.; Achatz, E.; Roetzer, K. M.; Bonneau, D.; Guichet, A.; Lazaro, L.; Plessis, G.; Kroisel, P. M.; Reis, A.; Jonveaux, P.; Chantot-Bastaraud, S.; Rauch, A.; Demeer, B.; Nordgren, A.; Labalme, A.; Ferrarini, A.; Ramelli, G. P.; Guilmatre, A.; Joly-Helas, G.; Haize, S.; Layet, V.; Le Gallic, S.; de Freminville, B.; Touraine, R.; Van Binsbergen, E.; Mathieu-Dramard, M.; Barth, M.; Blaumeiser, B.; Masurel, A.; Cailler, P.; Olivier-Faivre, L.; Malacarne, M.; Coutton, C.; Dieterich, K.; Satre, V.; Wallgren-Pettersson, C.; Tensgrom, C.; Kaksonen, S.; Duban-Bedu, B.; Holder, M.; Rossi, M.; Gaillard, D.; Bock, D.; Bednarek, N.; Guillin, O.; Bizzarri, V.; Flori, E.; Silengo, M.; Kooy, R. F.; Aboura, A.; Beri, M.; Delobel, B.; Drunat, S.; Jaros, Z.; Kolk, A.; Reigo, A.; Zufferey, F.; Beckmann, N.; Faravelli, F.; Alupay, H.; Aaronson, B.; Ackerman, S.; Ankenman, K.; Anwar, A.; Atwell, C.; Bowe, A.; Beaudet, A. L.; Benedetti, M.; Berg, J.; Berman, J.; Berry, L. N.; Bibb, A. L.; Blaskey, L.; Brennan, J.; Brewton, C. M.; Buckner, R.; Bukshpun, P.; Burko, J.; Cali, P.; Cerban, B.; Chang, Y.; Cheong, M.; Chow, V.; Chu, Z.; Chudnovskaya, D.; Cornew, L.; Dale, C.; Dell, J.; Dempsey, A. G.; Deschamps, T.; Earl, R.; Edgar, J.; Elgin, J.; Endre, J.; Evans, Y. L.; Findlay, A.; Fischbach, G. D.; Fisk, C.; Fregeau, B.; Gaetz, B.; Gaetz, L.; Garza, S.; Gerdts, J.; Glenn, O.; Gobuty, S. E.; Golembski, R.; Greenup, M.; Heiken, K.; Hines, K.; Hinkley, L.; Jackson, F. I.; Jenkins, J.; Jeremy, R. J.; Johnson, K.; Kanne, S. M.; Kessler, S.; Khan, S. Y.; Ku, M.; Kuschner, E.; Laakman, A. L.; Lam, P.; Lasala, M. W.; Lee, H.; La, K.; Levy, S.; Lian, A.; Llorens, A. V.; Loftus, K.; Luks, T. L.; Marco, E. J.; Martin, S.; Martin, A. J.; Marzano, G.; Masson, C.; Mcgovern, K. E.; Keehn, R. M.; Miller, D. T.; Miller, F. K.; Moss, T. J.; Murray, R.; Nagarajan, S. S.; Nowell, K. P.; Owen, J.; Paal, A. M.; Packer, A.; Page, P. Z.; Paul, B. M.; Peters, A.; Peterson, D.; Poduri, A.; Pojman, N. J.; Porche, K.; Proud, M. B.; Qasmieh, S.; Ramocki, M. B.; Reilly, B.; Roberts, T. P. L.; Shaw, D.; Sinha, T.; Smith, B.; Snow, A.; Swarnakar, V.; Thieu, T.; Triantafallou, C.; Vaughan, R.; Wakahiro, M.; Wallace, A.; Ward, T.; Wenegrat, J.; Wolken, A. | - | |
Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome | 1-gen-2014 | Disciglio, Vittoria; Caterina, Lo Rizzo; Mencarelli, MARIA ANTONIETTA; Mucciolo, Mafalda; Marozza, Annabella; Chiara, Di Marco; Antonio, Massarelli; Valentina, Canocchi; Margherita, Baldassarri; Ndoni, Enea; Frullanti, Elisa; Amabile, Sonia; Britt, Marie Anderlid; Kay, Metcalfe; Cédric, Le Caignec; Albert, David; Alan, Fryer; Odile, Boute; Andrieux, Joris; Donatella, Greco; Vanna, Pecile; Roberta, Battini; Antonio, Novelli; Marco, Fichera; Corrado, Romano; Mari, Francesca; Renieri, Alessandra | - | |
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA | 1-gen-2014 | Toshiyuki, Yamamoto; Mencarelli, MARIA ANTONIETTA; Chiara Di, Marco; Mucciolo, Mafalda; Marina, Vascotto; Balestri, Paolo; Marion, Gerard; Michele Mathieu, Dramard; Joris, Andrieux; Martijn, Breuning; Mariette J. V., Hoffer; Claudia A. L., Ruivenkamp; Shino, Shimada; Noriko, Sangu; Keiko, Shimojima; Ryoji, Umezu; Hiroshi, Kawame; Mari, Matsuo; Kayoko, Saito; Renieri, Alessandra; Mari, Francesca | - | |
Uncovering recessive likely pathogenic variants, using microdeletion sindrome with unusual phenotypes | 1-gen-2012 | Mucciolo, Mafalda; Amabile, Sonia; Bonilla, X.; Guipponi, M.; Santoni, F.; Marco, C. Di; Stefano, C. Di; Gentilini, B.; Lalatta, F.; Digiglio, M. C.; Lapi, E.; Hayek, J.; Giordano, NICOLA GIUSEPPE; Ciuoli, C.; DI CAIRANO, Giovanni; Messina, Mario; Mari, Francesca; Renieri, Alessandra; Antonarakis, S. | - |