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2019

Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience

Ciaccio, C., Saletti, V., D'Arrigo, S., Esposito, S., Alfei, E., Moroni, I., Tonduti, D., Chiapparini, L., Pantaleoni, C. & Milani, D., 2019, In : European Journal of Medical Genetics. 62, 12, 103596.

Research output: Contribution to journalArticle

EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome

Childhood Overgrowth Collaboration, Griffiths, S., Loveday, C., Zachariou, A., Behan, L. A., Chandler, K., Cole, T., D'Arrigo, S., Dieckmann, A., Foster, A., Gibney, J., Hunter, M., Milani, D., Pantaleoni, C., Roche, E., Sherlock, M., Springer, A., White, S. M. & Tatton-Brown, K., Apr 1 2019, In : American Journal of Medical Genetics, Part A. 179, 4, p. 588-594 7 p.

Research output: Contribution to journalArticle

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review

Garau, J., Cavallera, V., Valente, M., Tonduti, D., Sproviero, D., Zucca, S., Battaglia, D., Battini, R., Bertini, E., Cappanera, S., Chiapparini, L., Crasà, C., Crichiutti, G., Dalla Giustina, E., D'Arrigo, S., De Giorgis, V., De Simone, M., Galli, J., La Piana, R., Messana, T. & 19 others, Moroni, I., Nardocci, N., Panteghini, C., Parazzini, C., Pichiecchio, A., Pini, A., Ricci, F., Saletti, V., Salvatici, E., Santorelli, F. M., Sartori, S., Tinelli, F., Uggetti, C., Veneselli, E., Zorzi, G., Garavaglia, B., Fazzi, E., Orcesi, S. & Cereda, C., May 26 2019, In : Journal of Clinical Medicine. 8, 5

Research output: Contribution to journalArticle

Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review

Garau, J., Cavallera, V., Valente, M., Tonduti, D., Sproviero, D., Zucca, S., Battaglia, D., Battini, R., Bertini, E., Cappanera, S., Chiapparini, L., Crasà, C., Crichiutti, G., Dalla Giustina, E., D'Arrigo, S., De Giorgis, V., De Simone, M., Galli, J., La Piana, R., Messana, T. & 19 others, Moroni, I., Nardocci, N., Panteghini, C., Parazzini, C., Pichiecchio, A., Pini, A., Ricci, F., Saletti, V., Salvatici, E., Santorelli, F. M., Sartori, S., Tinelli, F., Uggetti, C., Veneselli, E., Zorzi, G., Garavaglia, B., Fazzi, E., Orcesi, S. & Cereda, C., May 26 2019, In : Journal of Clinical Medicine. 8, 5

Research output: Contribution to journalArticle

Spontaneous MRI improvement and absence of cerebral calcification in Aicardi-Goutières syndrome: Diagnostic and disease-monitoring implications

Tonduti, D., Izzo, G., D'Arrigo, S., Riva, D., Moroni, I., Zorzi, G., Cavallera, V., Pichiecchio, A., Uggetti, C., Veggiotti, P., Orcesi, S., Chiapparini, L. & Parazzini, C., Feb 25 2019, In : Molecular Genetics and Metabolism. 126, 4, p. 489-94 6 p.

Research output: Contribution to journalArticle

2018

Comprehensive molecular screening strategy of OCLN in band-like calcification with simplified gyration and polymicrogyria

Jenkinson, E. M., Livingston, J. H., O'Driscoll, M. C., Desguerre, I., Nabbout, R., Boddaert, N., Soares, G., Gonçalves da Rocha, M., D'Arrigo, S., Rice, G. I. & Crow, Y. J., Feb 1 2018, In : Clinical Genetics. 93, 2, p. 228-234 7 p.

Research output: Contribution to journalArticle

Encephalopathies with intracranial calcification in children: Clinical and genetic characterization

Tonduti, D., Panteghini, C., Pichiecchio, A., Decio, A., Carecchio, M., Reale, C., Moroni, I., Nardocci, N., Campistol, J., Garcia-Cazorla, A., Perez Duenas, B., Zorzi, G., Ardissone, A., Granata, T., Freri, E., Zibordi, F., Ragona, F., D'Arrigo, S., Saletti, V., Esposito, S. & 22 others, Pantaleoni, C., Riva, D., De Giorgis, V., Cereda, C., Valente, M. L., Sproviero, D., Poo Arguelles, M. P., Estupina, C. F., Sans Fito, A. M., Martorell Sampol, L., Del Mar O'Callaghan Gordo, M., Ortez Gonzalez, C. I., Gonzalez Alvarez, V., Garcia-Segarra, N., Fusco, C., Bertini, E., Diodato, D., Fazzi, E., Galli, J., Chiapparini, L., Garavaglia, B. & Orcesi, S., Aug 16 2018, In : Orphanet Journal of Rare Diseases. 13, 1, 135.

Research output: Contribution to journalArticle

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects

De Mori, R., Romani, M., D'Arrigo, S., Zaki, M. S., Lorefice, E., Tardivo, S., Biagini, T., Stanley, V., Musaev, D., Fluss, J., Micalizzi, A., Nuovo, S., Illi, B., Chiapparini, L., Di Marcotullio, L., Issa, M. Y., Anello, D., Casella, A., Ginevrino, M., Leggins, A. S. N. & 10 others, Roosing, S., Alfonsi, R., Rosati, J., Schot, R., Mancini, G. M. S., Bertini, E., Dobyns, W. B., Mazza, T., Gleeson, J. G. & Valente, E. M., Oct 5 2017, In : American Journal of Human Genetics. 101, 4, p. 552-563 12 p.

Research output: Contribution to journalArticle

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects

De Mori, R., Romani, M., D'Arrigo, S., Zaki, M. S., Lorefice, E., Tardivo, S., Biagini, T., Stanley, V., Musaev, D., Fluss, J., Micalizzi, A., Nuovo, S., Illi, B., Chiapparini, L., Di Marcotullio, L., Issa, M. Y., Anello, D., Casella, A., Ginevrino, M., Leggins, A. S. & 10 others, Roosing, S., Alfonsi, R., Rosati, J., Schot, R., Mancini, G. M. S., Bertini, E., Dobyns, W. B., Mazza, T., Gleeson, J. G. & Valente, E. M., Oct 5 2017, In : American Journal of Human Genetics. 101, 4, p. 552-563 12 p.

Research output: Contribution to journalArticle

Tubulin-related cerebellar dysplasia

Romaniello, R., Arrigoni, F., Panzeri, E., Poretti, A., Micalizzi, A., Citterio, A., Bedeschi, M. F., Berardinelli, A., Cusmai, R., D'Arrigo, S., Ferraris, A., Hackenberg, A., Kuechler, A., Mancardi, M. M., Nuovo, S., Oehl-Jaschkowitz, B., Rossi, A., Signorini, S., Tüttelmann, F., Wahl, D. & 5 others, Hehr, U., Boltshauser, E., Bassi, M. T., Valente, E. M. & Borgatti, R., Dec 2017, In : European Radiology. 27, 12, p. 5080-5092 13 p.

Research output: Contribution to journalArticle

Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

Romaniello, R., Arrigoni, F., Panzeri, E., Poretti, A., Micalizzi, A., Citterio, A., Bedeschi, M. F., Berardinelli, A., Cusmai, M., D'Arrigo, S., Ferraris, A., Hackenberg, A., Kuechler, A., Mancardi, M., Nuovo, S., Oehl-Jaschkowitz, B., Rossi, A., Signorini, S., Tuettelmann, F., Wahl, D. & 5 others, Hehr, U., Boltshauser, E., Bassi, M. T., Valente, E. M. & Borgatti, R., Dec 1 2017, In : European Radiology. 27, 12, p. 5080-5092 13 p.

Research output: Contribution to journalArticle

ZC4H2 deletions can cause severe phenotype in female carriers

Zanzottera, C., Milani, D., Alfei, E., Rizzo, A., D'Arrigo, S., Esposito, S. & Pantaleoni, C., May 1 2017, In : American Journal of Medical Genetics, Part A. 173, 5, p. 1358-1363 6 p.

Research output: Contribution to journalArticle

2016

Chromosome 17q21.31 duplication syndrome: Description of a new familiar case and further delineation of the clinical spectrum

Natacci, F., Alfei, E., Tararà, L., D'Arrigo, S., Zuffardi, O., Gentilin, B. & Pantaleoni, C., Jan 1 2016, In : European Journal of Paediatric Neurology. 20, 1, p. 183-187 5 p.

Research output: Contribution to journalArticle

Chromosome 17q21.31 duplication syndrome: Description of a new familiar case and further delineation of the clinical spectrum

Natacci, F., Alfei, E., Tararà, L., D'Arrigo, S., Zuffardi, O., Gentilin, B. & Pantaleoni, C., Jan 1 2016, In : European Journal of Paediatric Neurology. 20, 1, p. 183-187 5 p.

Research output: Contribution to journalArticle

Cognitive, adaptive, and behavioral features in Joubert syndrome

Bulgheroni, S., D'Arrigo, S., Signorini, S., Briguglio, M., Di Sabato, M. L., Casarano, M., Mancini, F., Romani, M., Alfieri, P., Battini, R., Zoppello, M., Tortorella, G., Bertini, E., Leuzzi, V., Valente, E. M. & Riva, D., Dec 2016, In : American Journal of Medical Genetics, Part A. 170, 12, p. 3115-3124 10 p.

Research output: Contribution to journalArticle

Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region

Nicita, F., Garone, G., Spalice, A., Savasta, S., Striano, P., Pantaleoni, C., Spartà, M. V., Kluger, G., Capovilla, G., Pruna, D., Freri, E., D'Arrigo, S. & Verrotti, A., Jan 1 2016, In : American Journal of Medical Genetics, Part A. 170, 1, p. 148-155 8 p.

Research output: Contribution to journalArticle

Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region

Nicita, F., Garone, G., Spalice, A., Savasta, S., Striano, P., Pantaleoni, C., Spartà, M. V., Kluger, G., Capovilla, G., Pruna, D., Freri, E., D'Arrigo, S. & Verrotti, A., Jan 1 2016, In : American Journal of Medical Genetics, Part A. 170, 1, p. 148-155 8 p.

Research output: Contribution to journalArticle

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

Roosing, S., Romani, M., Isrie, M., Rosti, R. O., Micalizzi, A., Musaev, D., Mazza, T., Al-gazali, L., Altunoglu, U., Boltshauser, E., D'Arrigo, S., De Keersmaecker, B., Kayserili, H., Brandenberger, S., Kraoua, I., Mark, P. R., McKanna, T., Van Keirsbilck, J., Moerman, P., Poretti, A. & 4 others, Puri, R., Van Esch, H., Gleeson, J. G. & Valente, E. M., May 6 2016, (Accepted/In press) In : Journal of Medical Genetics.

Research output: Contribution to journalArticle

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

Roosing, S., Romani, M., Isrie, M., Rosti, R. O., Micalizzi, A., Musaev, D., Mazza, T., Al-Gazali, L., Altunoglu, U., Boltshauser, E., D'Arrigo, S., De Keersmaecker, B., Kayserili, H., Brandenberger, S., Kraoua, I., Mark, P. R., McKanna, T., Van Keirsbilck, J., Moerman, P., Poretti, A. & 4 others, Puri, R., Van Esch, H., Gleeson, J. G. & Valente, E. M., 2016, In : Journal of Medical Genetics.

Research output: Contribution to journalArticle

2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

Crow, Y. J., Chase, D. S., Lowenstein Schmidt, J., Szynkiewicz, M., Forte, G. M. A., Gornall, H. L., Oojageer, A., Anderson, B., Pizzino, A., Helman, G., Abdel-Hamid, M. S., Abdel-Salam, G. M., Ackroyd, S., Aeby, A., Agosta, G., Albin, C., Allon-Shalev, S., Arellano, M., Ariaudo, G., Aswani, V. & 116 others, Babul-Hirji, R., Baildam, E. M., Bahi-Buisson, N., Bailey, K. M., Barnerias, C., Barth, M., Battini, R., Beresford, M. W., Bernard, G., Bianchi, M., Billette de Villemeur, T., Blair, E. M., Bloom, M., Burlina, A. B., Luisa Carpanelli, M., Carvalho, D. R., Castro-Gago, M., Cavallini, A., Cereda, C., Chandler, K. E., Chitayat, D. A., Collins, A. E., Sierra Corcoles, C., Cordeiro, N. J. V., Crichiutti, G., Dabydeen, L., Dale, R. C., Darrigo, S., De Goede, C. G. E. L., De Laet, C., De Waele, L. M. H., Denzler, I., Desguerre, I., Devriendt, K., Di Rocco, M., Fahey, M. C., Fazzi, E., Ferrie, C. D., Figueiredo, A., Gener, B., Goizet, C., Gowrinathan, N. R., Gowrishankar, K., Hanrahan, D., Isidor, B., Kara, B., Khan, N., King, M. D., Kirk, E. P., Kumar, R., Lagae, L., Landrieu, P., Lauffer, H., Laugel, V., Piana, R. L., Lim, M. J., Lin, J. P. S. M., Linnankivi, T., Mackay, M. T., Marom, D. R., Marques Lourenço, C., Mckee, S. A., Moroni, I., Morton, J. E. V., Moutard, M. L., Murray, K., Nabbout, R., Nampoothiri, S., Nunez-Enamorado, N., Oades, P. J., Olivieri, I., Ostergaard, J. R., Pérez-Dueñas, B., Prendiville, J. S., Ramesh, V., Rasmussen, M., Régal, L., Ricci, F., Rio, M., Rodriguez, D., Roubertie, A., Salvatici, E., Segers, K. A., Sinha, G. P., Soler, D., Spiegel, R., Stödberg, T. I., Straussberg, R., Swoboda, K. J., Suri, M., Tacke, U., Tan, T. Y., te Water Naude, J., Wee Teik, K., Mary Thomas, M., Till, M., Tonduti, D., Maria Valente, E., Noel Van Coster, R., van der Knaap, M. S., Vassallo, G., Vijzelaar, R., Vogt, J., Wallace, G. B., Wassmer, E., Webb, H. J., Whitehouse, W. P., Whitney, R. N., Zaki, M. S., Zuberi, S. M., Livingston, J. H., Rozenberg, F., Lebon, P., Vanderver, A., Orcesi, S. & Rice, G. I., Feb 1 2015, In : American Journal of Medical Genetics, Part A. 167, 2, p. 296-312 17 p.

Research output: Contribution to journalArticle

Electroencephalographic (EEG) Photoparoxysmal Responses under 5 Years of Age

Binelli, S., Ragona, F., Canafoglia, L., Freri, E., Saletti, V., Casazza, M., Gilioli, I., D'Arrigo, S., Visani, E., Panzica, F., Granata, T., Riva, D. & Franceschetti, S., Nov 1 2015, In : Journal of Child Neurology. 30, 13, p. 1824-1830 7 p.

Research output: Contribution to journalArticle

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

Roosing, S., Hofree, M., Kim, S., Scott, E., Copeland, B., Romani, M., Silhavy, J. L., Rosti, R. O., Schroth, J., Mazza, T., Miccinilli, E., Zaki, M. S., Swoboda, K. J., Milisa-Drautz, J., Dobyns, W. B., Mikati, M., İncecik, F., Azam, M., Borgatti, R., Romaniello, R. & 24 others, Boustany, R. M., Clericuzio, C. L., D’Arrigo, S., Strømme, P., Boltshauser, E., Stanzial, F., Mirabelli-Badenier, M., Moroni, I., Bertini, E., Emma, F., Steinlin, M., Hildebrandt, F., Johnson, C. A., Freilinger, M., Vaux, K. K., Gabriel, S. B., Aza-Blac, P., Heynen, S. G., Ideker, T., Dynlacht, B. D., Lee, J. E., Valente, E. M., Kim, J. & Gleeson, J. G., May 30 2015, In : eLife. 4, MAY, p. 1-37 37 p.

Research output: Contribution to journalArticle

The diagnostic yield of array comparative genomic hybridization is high regardless of severity of intellectual disability/developmental delay in children

D'Arrigo, S., Gavazzi, F., Alfei, E., Zuffardi, O., Montomoli, C., Corso, B., Buzzi, E., Sciacca, F. L., Bulgheroni, S., Riva, D. & Pantaleoni, C., 2015, In : Journal of Child Neurology. 31, 6, p. 691-699 9 p.

Research output: Contribution to journalArticle

2014

Consensus paper: The cerebellum's role in movement and cognition

Koziol, L. F., Budding, D., Andreasen, N., D'Arrigo, S., Bulgheroni, S., Imamizu, H., Ito, M., Manto, M., Marvel, C., Parker, K., Pezzulo, G., Ramnani, N., Riva, D., Schmahmann, J., Vandervert, L. & Yamazaki, T., 2014, In : Cerebellum. 13, 1, p. 151-177 27 p.

Research output: Contribution to journalArticle

Little folks, little myelin, and little teeth

Willemsen, M. A. & D'Arrigo, S., Nov 1 2014, In : Neurology. 83, 21, p. 1884-1885 2 p.

Research output: Contribution to journalArticle

Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2

Battini, R., D'Arrigo, S., Cassandrini, D., Guzzetta, A., Fiorillo, C., Pantaleoni, C., Romano, A., Alfei, E., Cioni, G. & Santorelli, F. M., 2014, In : Journal of Child Neurology. 29, 4, p. 520-525 6 p.

Research output: Contribution to journalArticle

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

Romani, M., Mancini, F., Micalizzi, A., Poretti, A., Miccinilli, E., Accorsi, P., Avola, E., Bertini, E., Borgatti, R., Romaniello, R., Ceylaner, S., Coppola, G., D’Arrigo, S., Giordano, L., Janecke, A. R., Lituania, M., Ludwig, K., Martorell, L., Mazza, T., Odent, S. & 13 others, Pinelli, L., Poo, P., Santucci, M., Signorini, S., Simonati, A., Spiegel, R., Stanzial, F., Steinlin, M., Tabarki, B., Wolf, N. I., Zibordi, F., Boltshauser, E. & Valente, E. M., 2014, In : Human Genetics. 134, 1, p. 123-126 4 p.

Research output: Contribution to journalArticle

Seizures and EEG features in 74 patients with genetic-dysmorphic syndromes

Alfei, E., Raviglione, F., Franceschetti, S., D'Arrigo, S., Milani, D., Selicorni, A., Riva, D., Zuffardi, O., Pantaleoni, C. & Binelli, S., Dec 1 2014, In : American Journal of Medical Genetics, Part A. 164, 12, p. 3154-3161 8 p.

Research output: Contribution to journalArticle

2013

5p13 microduplication syndrome: A new case and better clinical definition of the syndrome

Novara, F., Alfei, E., D'Arrigo, S., Pantaleoni, C., Beri, S., Achille, V., Sciacca, F. L., Giorda, R., Zuffardi, O. & Ciccone, R., Jan 2013, In : European Journal of Medical Genetics. 56, 1, p. 54-58 5 p.

Research output: Contribution to journalArticle

Supratentorial and pontine MRI abnormalities characterize recessive spastic ataxia of Charlevoix-Saguenay. A comprehensive study of an Italian series

Prodi, E., Grisoli, M., Panzeri, M., Minati, L., Fattori, F., Erbetta, A., Uziel, G., D'Arrigo, S., Tessa, A., Ciano, C., Santorelli, F. M., Savoiardo, M. & Mariotti, C., Jan 2013, In : European Journal of Neurology. 20, 1, p. 138-146 9 p.

Research output: Contribution to journalArticle

2012

Delineation and diagnostic criteria of oral-facial-digital syndrome type VI

Poretti, A., Vitiello, G., Hennekam, R. C. M., Arrigoni, F., Bertini, E., Borgatti, R., Brancati, F., D'Arrigo, S., Faravelli, F., Giordano, L., Huisman, T. A. G. M., Iannicelli, M., Kluger, G., Kyllerman, M., Landgren, M., Lees, M. M., Pinelli, L., Romaniello, R., Scheer, I., Schwarz, C. E. & 4 others, Spiegel, R., Tibussek, D., Valente, E. M. & Boltshauser, E., 2012, In : Orphanet Journal of Rare Diseases. 7, 1, 4.

Research output: Contribution to journalArticle

Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease

Saredi, S., Ardissone, A., Ruggieri, A., Mottarelli, E., Farina, L., Rinaldi, R., Silvestri, E., Gandioli, C., D'Arrigo, S., Salerno, F., Morandi, L., Grammatico, P., Pantaleoni, C., Moroni, I. & Mora, M., Jul 15 2012, In : Journal of the Neurological Sciences. 318, 1-2, p. 45-50 6 p.

Research output: Contribution to journalArticle

2011

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment

Brunetti-Pierri, N., Paciorkowski, A. R., Ciccone, R., Mina, E. D., Bonaglia, M. C., Borgatti, R., Schaaf, C. P., Sutton, V. R., Xia, Z., Jelluma, N., Ruivenkamp, C., Bertrand, M., De Ravel, T. J. L., Jayakar, P., Belli, S., Rocchetti, K., Pantaleoni, C., D'Arrigo, S., Hughes, J., Cheung, S. W. & 2 others, Zuffardi, O. & Stankiewicz, P., Jan 2011, In : European Journal of Human Genetics. 19, 1, p. 102-107 6 p.

Research output: Contribution to journalArticle

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with phelan/mcdermid syndrome

Bonaglia, M. C., Giorda, R., Beri, S., de Agostini, C., Novara, F., Fichera, M., Grillo, L., Galesi, O., Vetro, A., Ciccone, R., Bonati, M. T., Giglio, S., Guerrini, R., Osimani, S., Marelli, S., Zucca, C., Grasso, R., Borgatti, R., Mani, E., Motta, C. & 35 others, Molteni, M., Romano, C., Greco, D., Reitano, S., Baroncini, A., Lapi, E., Cecconi, A., Arrigo, G., Patricelli, M. G., Pantaleoni, C., D'Arrigo, S., Riva, D., Sciacca, F., Bernardina, D. B., Zoccante, L., Darra, F., Termine, C., Maserati, E., Bigoni, S., Priolo, E., Bottani, A., Gimelli, S., Bena, F., Brusco, A., Gregorio, E., Bagnasco, I., Giussani, U., Nitsch, L., Politi, P., Martinez-Frias, M. L., Martínez-Fernández, M. L., Guardia, N., Bremer, A., Anderlid, B. M. & Zuffardi, O., Jul 2011, In : PLoS Genetics. 7, 7, e1002173.

Research output: Contribution to journalArticle

The "eye-of-the-tiger" sign may be absent in the early stages of classic pantothenate kinase associated neurodegeneration

Chiapparini, L., Savoiardo, M., Darrigo, S., Reale, C., Zorzi, G., Zibordi, F., Cordelli, D. M., Franzoni, E., Garavaglia, B. & Nardocci, N., 2011, In : Neuropediatrics. 42, 4, p. 159-162 4 p.

Research output: Contribution to journalArticle

2010

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

Iannicelli, M., Brancati, F., Mougou-Zerelli, S., Mazzotta, A., Thomas, S., Elkhartoufi, N., Travaglini, L., Gomes, C., Ardissino, G. L., Bertini, E., Boltshauser, E., Castorina, P., D'Arrigo, S., Fischetto, R., Leroy, B., Loget, P., Bonnière, M., Starck, L., Tantau, J., Gentilin, B. & 205 others, Majore, S., Swistun, D., Flori, E., Lalatta, F., Pantaleoni, C., Penzien, J., Grammatico, P., Dallapiccola, B., Gleeson, J. G., Attie-Bitach, T., Valente, E. M., Ali Pacha, L., Tazir, M., Zankl, A., Leventer, R., Grattan-Smith, P., Janecke, A., D'Hooghe, M., Sznajer, Y., Van Coster, R., Demerleir, L., Dias, K., Moco, C., Moreira, A., Ae Kim, C., Maegawa, G., Loncarevic, D., Mejaski-Bosnjak, V., Petkovic, D., Abdel-Salam, G. M. H., Abdel-Aleem, A., Zaki, M. S., Marti, I., Quijano-Roy, S., Sigaudy, S., De Lonlay, P., Romano, S., Verloes, A., Touraine, R., Koenig, M., Lagier-Tourenne, C., Messer, J., Collignon, P., Wolf, N., Philippi, H., Lemke, J., Dacou-Voutetakis, C., Kitsiou Tzeli, S., Pons, R., Sztriha, L., Halldorsson, S., Johannsdottir, J., Ludvigsson, P., Phadke, S. R., Udani, V., Stuart, B., Magee, A., Lev, D., Michelson, M., Ben-Zeev, B., Di Giacomo, M., Gentile, M., Guanti, G., D'Addato, O., Papadia, F., Spano, M., Bernardi, F., Seri, M., Benedicenti, F., Stanzial, F., Borgatti, R., Accorsi, P., Battaglia, S., Fazzi, E., Giordano, L., Izzi, C., Pinelli, L., Boccone, L., Guanciali, P., Romoli, R., Bigoni, S., Ferlini, A., Andreucci, E., Donati, M. A., Genuardi, M., Caridi, G., Divizia, M. T., Faravelli, F., Ghiggeri, G., Pessagno, A., Amorini, M., Briguglio, M., Briuglia, S., Rigoli, L., Salpietro, C., Tortorella, G., Adami, A., Marra, G., Riva, D., Scelsa, B., Spaccini, L., Uziel, G., Coppola, G., Del Giudice, E., Vitiello, G., Laverda, A. M., Ludwig, K., Permunian, A., Suppiej, A., Macaluso, C., Signorini, S., Uggetti, C., Battini, R., Di Giacomo, M., Priolo, M., Cilio, M. R., D'Amico, A., Di Sabato, M. L., Emma, F., Leuzzi, V., Parisi, P., Stringini, G., Zanni, G., Pollazzon, M., Renieri, A., Vascotto, M., Silengo, M., De Vescovi, R., Greco, D., Romano, C., Cazzagon, M., Simonati, A., Al-Tawari, A. A., Bastaki, L., Mégarbané, A., Matuleviciene, A., Sabolic Avramovska, V., Said, E., De Jong, M. M., Prescott, T., Stromme, P., Von Der Lippe, C., Koul, R., Rajab, A., Azam, M., Barbot, C., Jocic-Jakubi, B., Gener Querol, B., Martorell Sampol, L., Rodriguez, B., Pascual-Castroviejo, I., Strozzi, S., Fluss, J., Teber M, S., Topcu, N. V., Anlar, B., Comu, S., Karaca, E., Kayserili, H., Yüksel, A., Akgul, M., Akcakus, M., Al Gazali, L., Nicholl, D., Woods, C. G., Bennett, C., Hurst, J., Sheridan, E., Barnicoat, A., Carr, L., Hennekam, R., Lees, M., McKay, F., Yates, L., Blair, E., Bernes, S., Sanchez, H., Clark, A. E., DeMarco, E., Donahue, C., Sherr, E., Hahn, J., Sanger, T. D., Gallager, T. E., Dobyns, W. B., Daugherty, C., Krishnamoorthy, K. S., Sarco, D., Walsh, C. A., McKanna, T., Milisa, J., Chung, W. K., De Vivo, D. C., Raynes, H., Schubert, R., Seward, A., Brooks, D. G., Goldstein, A., Caldwell, J., Finsecke, E., Maria, B. L., Holden, K., Cruse, R. P., Swoboda, K. J. & Viskochil, D., May 2010, In : Human Mutation. 31, 5

Research output: Contribution to journalArticle

Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria

O'Driscoll, M. C., Daly, S. B., Urquhart, J. E., Black, G. C. M., Pilz, D. T., Brockmann, K., McEntagart, M., Abdel-Salam, G., Zaki, M., Wolf, N. I., Ladda, R. L., Sell, S., D'Arrigo, S., Squier, W., Dobyns, W. B., Livingston, J. H. & Crow, Y. J., Sep 10 2010, In : American Journal of Human Genetics. 87, 3, p. 354-364 11 p.

Research output: Contribution to journalArticle

The syndrome of perisylvian polymicrogyria with congenital arthrogryposis

Poduri, A., Chitsazzadeh, V., D'Arrigo, S., Fedrizzi, E., Pantaleoni, C., Riva, D., Busse, C., Küster, H., Duplessis, A., Gaitanis, J., Sahin, M., Garganta, C., Topcu, M., Dies, K. A., Barry, B. J., Partlow, J., Barkovich, A. J., Walsh, C. A. & Chang, B. S., Aug 2010, In : Brain and Development. 32, 7, p. 550-555 6 p.

Research output: Contribution to journalArticle

2009

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.

Brancati, F., Iannicelli, M., Travaglini, L., Mazzotta, A., Bertini, E., Boltshauser, E., D'Arrigo, S., Emma, F., Fazzi, E., Gallizzi, R., Gentile, M., Loncarevic, D., Mejaski-Bosnjak, V., Pantaleoni, C., Rigoli, L., Salpietro, C. D., Signorini, S., Stringini, G. R., Verloes, A., Zabloka, D. & 3 others, Dallapiccola, B., Gleeson, J. G. & Valente, E. M., Feb 2009, In : Human Mutation. 30, 2

Research output: Contribution to journalArticle

2008

Aicardi-Goutières syndrome: Description of a late onset case

D'arrigo, S., Riva, D., Bulgheroni, S., Chiapparini, L., Lebon, P., Rice, G., Crow, Y. J. & Pantaleoni, C., 2008, In : Developmental Medicine and Child Neurology. 50, 8, p. 631-634 4 p.

Research output: Contribution to journalArticle

Band-like intracranial calcification with simplified gyration and polymicrogyria: A distinct "pseudo-TORCH" phenotype

Briggs, T. A., Wolf, N. I., D'Arrigo, S., Ebinger, F., Harting, I., Dobyns, W. B., Livingston, J. H., Rice, G. I., Crooks, D., Rowland-Hill, C. A., Squier, W., Stoodley, N., Pilz, D. T. & Crow, Y. J., Dec 15 2008, In : American Journal of Medical Genetics, Part A. 146, 24, p. 3173-3180 8 p.

Research output: Contribution to journalArticle

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders

Brancati, F., Travaglini, L., Zablocka, D., Boltshauser, E., Accorsi, P., Montagna, G., Silhavy, J. L., Barrano, G., Bertini, E., Emma, F., Rigoli, L., Leventer, R., Grattan-Smith, P., Janecke, A., D'Hooghe, M., Van Coster, R., Dias, K., Moco, C., Moreira, A., Kim, C. A. & 108 others, Maegawa, G., Abdel-Salam, G. M. H., Abdel-Aleem, A., Zaki, M. S., Marti, I., Quijano-Roy, S., de Lonlay, P., Romano, S., Verloes, A., Touraine, R., Koenig, M., Lagier-Tourenne, C., Messer, J., Philippi, H., Tzeli, S. K., Halldorsson, S., Johannsdottir, J., Ludvigsson, P., Phadke, S. R., Stuart, B., Magee, A., Lev, D., Michelson, M., Ben-Zeev, B., Fischetto, R., Gentile, M., Battaglia, S., Giordano, L., Pinelli, L., Boccone, L., Ruggieri, M., Bigoni, S., Ferlini, A., Donati, M. A., Procopio, E., Caridi, G., Faravelli, F., Ghiggeri, G., Briuglia, S., Salpietro, C. D., Tortorella, G., D'Arrigo, S., Pantaleoni, C., Riva, D., Uziel, G., Laverda, A. M., Permunian, A., Bova, S., Battini, R., Cilio, M. R., Di Sabato, M., Leuzzi, V., Parisi, P., Simonati, A., Al-Tawari, A. A., Bastaki, L., Ahmad, N. V., de Jong, M. M., Koul, R., Rajab, A., Azam, M., Barbot, C., Rodriguez, B., Pascual-Castroviejo, I., Kayserili, H., Comu, S., Akcakus, M., Al Gazali, L., Sztriha, L., Nicholl, D., Woods, C. G., Bennett, C., Hurst, J., Hennekam, R., Lees, M., Bernes, S., Sanchez, H., Clark, A. E., DeMarco, E., DeMarco, E., Donahue, C., Sherr, E., Sanger, T. D., Gallager, T. E., Dobyns, W. B., Daugherty, C., Krishnamoorthy, K. S., Sarco, D., Walsh, C. A., McKanna, T., Milisa, J., Chung, W. K., De Vivo, D. C., Raynes, H., Schubert, R., Seward, A., Brooks, D. G., Goldstein, A., Caldwell, J., Finsecke, E., Maria, B. L., Holden, K., Cruse, R. P., Swoboda, K. J., Viskochil, D., Dallapiccola, B., Gleeson, J. G. & Valente, E. M., Aug 2008, In : Clinical Genetics. 74, 2, p. 164-170 7 p.

Research output: Contribution to journalArticle

2007

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

Brancati, F., Barrano, G., Silhavy, J. L., Marsh, S. E., Travaglini, L., Bielas, S. L., Amorini, M., Zablocka, D., Kayserili, H., Al-Gazali, L., Bertini, E., Boltshauser, E., D'Hooghe, M., Fazzi, E., Fenerci, E. Y., Hennekam, R. C. M., Kiss, A., Lees, M. M., Marco, E., Phadke, S. R. & 114 others, Rigoli, L., Romano, S., Salpietro, C. D., Sherr, E. H., Signorini, S., Stromme, P., Stuart, B., Sztriha, L., Viskochil, D. H., Yuksel, A., Dallapiccola, B., Valente, E. M., Gleeson, J. G., Grattan-Smith, P., Leventer, R., Janecke, A., Van Coster, R., Dias, K., Moco, C., Moreira, A., Chong, A. K., Maegawa, G., Abdel-Salam, G. M. H., Abdel-Aleem, A., Zaki, M. S., Marti, I., Quijano-Roy, S., De Lonlay, P., Verloes, A., Touraine, R., Koenig, M., Lagier-Tourenne, C., Messer, J., Philippi, H., Tzeli, S. K., Halldorsson, S., Johannsdottir, J., Ludvigsson, P., Magee, A., Lev, D., Michelson, M., Ben-Zeev, B., Fischetto, R., Gentile, M., Battaglia, S., Giordano, L., Boccone, L., Ruggieri, M., Bigoni, S., Ferlini, A., Donati, M. A., Procopio, E., Caridi, G., Faravelli, F., Ghiggeri, G., Briuglia, S., Tortorella, G., D'Arrigo, S., Pantaleoni, C., Riva, D., Uziel, G., Lavercla, A. M., Permunian, A., Bova, S., Battini, R., Cilio, M. R., Di Sabato, M., Emma, F., Leuzzi, V., Parisi, P., Simonati, A., Al-Tawari, A. A., Bastaki, L., Aqeel, A., De Jong, M. M., Koul, R., Rajab, A., Azam, M., Barbot, C., Rodriguez, B., Pascual-Castroviejo, I., Comu, S., Akcakus, M., Nicholl, D., Woods, C. G., Bennett, C., Hurst, J., Walsh, C. A., Bernes, S., Sanchez, H., Clark, A. E., Donahue, C., Hahn, J., Sanger, T. D., Gallager, T. E., Dobyns, W. B., Daugherty, C., Krishnamoorthy, K. S., Sarco, D., McKanna, T., Milisa, J., Chung, W. K., De Vivo, D. C., Raynes, H., Schubert, R., Seward, A., Brooks, D. G., Goldstein, A., Caldwell, J., Finsecke, E., Maria, B. L., Holden, K., Cruse, R. P. & Swoboda, K. J., Jul 2007, In : American Journal of Human Genetics. 81, 1, p. 104-113 10 p.

Research output: Contribution to journalArticle