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14 results for Castiglia,+Lucia

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ArticlesPeer ReviewedFull Text
Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome
Author / Creator:Bonaglia, Maria Clara ; Bertuzzo, Sara ; Ciaschini, Anna Maria ; Discepoli, Giancarlo ; Castiglia, Lucia ; Romaniello, Romina ; Zuffardi, Orsetta ; Fichera, Marco
Publisher:England: BioMed Central Ltd
Journal title:Molecular cytogenetics, 2020-06, Vol.13 (1), p.22-8, Article 22
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Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome
Author / Creator:Barresi, Vincenza ; Ragusa, Angela ; Fichera, Marco ; Musso, Nicolò ; Castiglia, Lucia ; Rappazzo, Giancarlo ; Travali, Salvatore ; Mattina, Teresa ; Romano, Corrado ; Cocchi, Guido ; Condorelli, Daniele F
Publisher:England: BioMed Central Ltd
Journal title:BMC genomics, 2010-07, Vol.3 (1), p.28-28, Article 28
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6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies
Author / Creator:Di Benedetto, Daniela ; Di Vita, Giuseppa ; Romano, Corrado ; Lo Giudice, Mariangela ; Vitello, Girolamo Aurelio ; Zingale, Marinella ; Grillo, Lucia ; Castiglia, Lucia ; Musumeci, Sebastiano Antonino ; Fichera, Marco
Publisher:England: BioMed Central Ltd
Journal title:Molecular cytogenetics, 2013-01, Vol.6 (1), p.4-4
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Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
Author / Creator:Pizzo, Lucilla ; Jensen, Matthew ; Polyak, Andrew ; Rosenfeld, Jill A. ; Mannik, Katrin ; Krishnan, Arjun ; McCready, Elizabeth ; Pichon, Olivier ; Le Caignec, Cedric ; Van Dijck, Anke ; Pope, Kate ; Voorhoeve, Els ; Yoon, Jieun ; Stankiewicz, Paweł ; Cheung, Sau Wai ; Pazuchanics, Damian ; Huber, Emily ; Kumar, Vijay ; Kember, Rachel L. ; Mari, Francesca ; Curró, Aurora ; Castiglia, Lucia ; Galesi, Ornella ; Avola, Emanuela ; Mattina, Teresa ; Fichera, Marco ; Mandarà, Luana ; Vincent, Marie ; Nizon, Mathilde ; Mercier, Sandra ; Bénéteau, Claire ; Blesson, Sophie ; Martin-Coignard, Dominique ; Mosca-Boidron, Anne-Laure ; Caberg, Jean-Hubert ; Bucan, Maja ; Zeesman, Susan ; Nowaczyk, Małgorzata J. M. ; Lefebvre, Mathilde ; Faivre, Laurence ; Callier, Patrick ; Skinner, Cindy ; Keren, Boris ; Perrine, Charles ; Prontera, Paolo ; Marle, Nathalie ; Renieri, Alessandra ; Reymond, Alexandre ; Kooy, R. Frank ; Isidor, Bertrand ; Schwartz, Charles ; Romano, Corrado ; Sistermans, Erik ; Amor, David J. ; Andrieux, Joris ; Girirajan, Santhosh
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-04, Vol.21 (4), p.816-825
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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
Author / Creator:Sharp, Andrew J ; Mefford, Heather C ; Li, Kelly ; Baker, Carl ; Skinner, Cindy ; Stevenson, Roger E ; Schroer, Richard J ; Novara, Francesca ; De Gregori, Manuela ; Ciccone, Roberto ; Broomer, Adam ; Casuga, Iris ; Wang, Yu ; Xiao, Chunlin ; Barbacioru, Catalin ; Gimelli, Giorgio ; Bernardina, Bernardo Dalla ; Torniero, Claudia ; Giorda, Roberto ; Regan, Regina ; Murday, Victoria ; Mansour, Sahar ; Fichera, Marco ; Castiglia, Lucia ; Failla, Pinella ; Ventura, Mario ; Jiang, Zhaoshi ; Cooper, Gregory M ; Knight, Samantha J L ; Romano, Corrado ; Zuffardi, Orsetta ; Chen, Caifu ; Schwartz, Charles E ; Eichler, Evan E
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2008-03, Vol.40 (3), p.322-328
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Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder
Author / Creator:Scuderi, Carmela ; Saccuzzo, Lucia ; Vinci, Mirella ; Castiglia, Lucia ; Galesi, Ornella ; Salemi, Michele ; Mattina, Teresa ; Borgione, Eugenia ; Città, Santina ; Romano, Corrado ; Fichera, Marco
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2019-04, Vol.27 (4), p.594-602
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Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and c...
Author / Creator:Fichera, Marco ; Failla, Pinella ; Saccuzzo, Lucia ; Miceli, Martina ; Salvo, Eliana ; Castiglia, Lucia ; Galesi, Ornella ; Grillo, Lucia ; Calì, Francesco ; Greco, Donatella ; Amato, Carmelo ; Romano, Corrado ; Elia, Maurizio
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2019-02, Vol.138 (2), p.187-198
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Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations
Author / Creator:Rossi, Elena ; Piccini, Flavia ; Zollino, Marcella ; Neri, Giovanni ; Caselli, Desirée ; Tenconi, Romano ; Castellan, Claudio ; Carrozzo, Romeo ; Danesino, Cesare ; Zuffardi, Orsetta ; Ragusa, Angela ; Castiglia, Lucia ; Galesi, Ornella ; Greco, Donatella ; Romano, Corrado ; Pierluigi, Mauro ; Perfumo, Chiara ; Di Rocco, Maia ; Faravelli, Francesca ; Bricarelli, Franca Dagna ; Bonaglia, MariaClara ; Bedeschi, MariaFrancesca ; Borgatti, Renato
Publisher:London: BMJ
Journal title:Journal of medical genetics, 2001-06, Vol.38 (6), p.417-420
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A recurrent 15ql3.3 microdeletion syndrome associated with mental retardation and seizures
Author / Creator:SHARP, Andrew J ; MEFFORD, Heather C ; BROOMER, Adam ; CASUGA, Iris ; YU WANG ; CHUNLIN XIAO ; BARBACIORU, Catalin ; GIMELLI, Giorgio ; DALLA BERNARDINA, Bernardo ; TORNIERO, Claudia ; GIORDA, Roberto ; REGAN, Regina ; LI, Kelly ; MURDAY, Victoria ; MANSOUR, Sahar ; FICHERA, Marco ; CASTIGLIA, Lucia ; FAIFLA, Pinella ; VENTURA, Mario ; ZHAOSHI JIANG ; COOPER, Gregory M ; KNIGHT, Samantha J. L ; ROMANO, Corrado ; BAKER, Carl ; ZUFFARDI, Orsetta ; CAIFU CHEN ; SCHWARTZ, Charles E ; EICHLER, Evan E ; SKINNER, Cindy ; STEVENSON, Roger E ; SCHROER, Richard J ; NOVARA, Francesca ; DE GREGORI, Manuela ; CICCONE, Roberto
Publisher:London: Nature Publishing Group
Journal title:Nature genetics, 2008, Vol.40 (3), p.322-328
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Mutational analysis of the ATRX gene by DGGE: A powerful diagnostic approach for the ATRX syndrome
Author / Creator:Borgione, Eugenia ; Sturnio, Maurizio ; Spalletta, Angela ; Angela Lo Giudice, Maria ; Castiglia, Lucia ; Galesi, Ornella ; Ragusa, Angela ; Fichera, Marco
Publisher:New York: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2003-05, Vol.21 (5), p.529-534
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How microsatellite analysis can be exploited for subtelomeric chromosomal rearrangement analysis in mental retardation
Author / Creator:BORGIONE, EUGENIA ; GIUDICE, MARIANGELA LO ; GALESI, ORNELLA ; CASTIGLIA, LUCIA ; FAILLA, PINELLA ; ROMANO, CORRADO ; RAGUSA, ANGELA ; FICHERA, MARCO
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2001-01, Vol.38 (1), p.e1-e1
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ReportsFull Text
Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome
Author / Creator:Bonaglia, Maria Clara ; Bertuzzo, Sara ; Ciaschini, Anna Maria ; Discepoli, Giancarlo ; Castiglia, Lucia ; Romaniello, Romina ; Zuffardi, Orsetta ; Fichera, Marco
Journal title:Molecular cytogenetics, 2020, Vol.13, p.22-22
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Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation
Author / Creator:Friez, M.J. ; Essop, F.B. ; Krause, A. ; Castiglia, L. ; Ragusa, A. ; Sossey-Alaoui, K. ; Nelson, R.L. ; May, M.M. ; Michaelis, R.C. ; Srivastava, A.K. ; Schwartz, C.E. ; Stevenson, R.E. ; Goldman, A. ; Villard, L. ; Longshore, J.W.
Publisher:Heidelberg: Springer
Journal title:Human genetics, 2000-01, Vol.106 (1), p.36-39
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ArticlesFull Text
Rare variants in the genetic background modulate the expressivity of neurodevelopmental disorders
Author / Creator:Pizzo, Lucilla ; Jensen, Matthew ; Polyak, Andrew ; Rosenfeld, Jill A ; Mannik, Katrin ; Krishnan, Arjun ; Mccready, Elizabeth ; Pichon, Olivier ; Cedric Le Caignec ; Anke Van Dijck ; Pope, Kate ; Voorhoeve, Els ; Yoon, Jieun ; Pawe Stankiewicz ; Cheung, Sau Wai ; Pazuchanics, Damian ; Huber, Emily ; Kumar, Vijay ; Kember, Rachel ; Mari, Francesca ; Aurora Curr ; Castiglia, Lucia ; Galesi, Ornella ; Avola, Emanuela ; Mattina, Teresa ; Fichera, Marco ; Luana Mandar ; Vincent, Marie ; Nizon, Mathilde ; Mercier, Sandra ; Claire B n teau ; Blesson, Sophie ; Martin-Coignard, Dominique ; Mosca-Boidron, Anne-Laure ; Jean Hubert Caberg ; Bucan, Maja ; Zeesman, Susan ; Ma gorzata Jm Nowaczyk ; Lefebvre, Mathilde ; Faivre, Laurence ; Callier, Patrick ; Skinner, Cindy ; Keren, Boris ; Perrine, Charles ; Prontera, Paolo ; Marle, Nathalie ; Renieri, Alessandra ; Reymond, Alexandre ; Kooy, R Frank ; Bertrand Isidor ; Schwartz, Charles ; Romano, Corrado ; Sistermans, Erik ; Amor, David J ; Andrieux, Joris ; Girirajan, Santhosh
Publisher:Cold Spring Harbor: Cold Spring Harbor Laboratory Press
Journal title:bioRxiv, 2018-04
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Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome

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Decreased expression of GRAF1/OPHN-1-L in the X-linked alpha thalassemia mental retardation syndrome

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6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies

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Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

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Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder

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Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and c...

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Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations

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A recurrent 15ql3.3 microdeletion syndrome associated with mental retardation and seizures

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Mutational analysis of the ATRX gene by DGGE: A powerful diagnostic approach for the ATRX syndrome

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How microsatellite analysis can be exploited for subtelomeric chromosomal rearrangement analysis in mental retardation

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Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome

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Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation

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Rare variants in the genetic background modulate the expressivity of neurodevelopmental disorders

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