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1. Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis

Author

Dentici, Maria Lisa, Niceta, Marcello, Lepri, Francesca Romana, Mancini, Cecilia, Priolo, Manuela, Bonnard, Adeline Alice, Cappelletti, Camilla, Leoni, Chiara, Ciolfi, Andrea, Pizzi, Simone, Cordeddu, Viviana, Rossi, Cesare, Ferilli, Marco, Mucciolo, Mafalda, Colona, Vito Luigi, Fauth, Christine, Bellini, Melissa, Biasucci, Giacomo, Sinibaldi, Lorenzo, Briuglia, Silvana, Gazzin, Andrea, Carli, Diana, Memo, Luigi, Trevisson, Eva, Schiavariello, Concetta, Luca, Maria, Novelli, Antonio, Michot, Caroline, Sweertvaegher, Anne, Germanaud, David, Scarano, Emanuela, De Luca, Alessandro, Zampino, Giuseppe, Zenker, Martin, Mussa, Alessandro, Dallapiccola, Bruno, Cavé, Helene, Digilio, Maria Cristina, and Tartaglia, Marco

Published
2024
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4. Movement disorder phenotype in CTNNB1-syndrome: A complex but recognizable phenomenology

Author

Garone, Giacomo, Innocenti, Alice, Grasso, Melissa, Mandarino, Alessandra, Capuano, Alessandro, Della Bella, Gessica, Frascarelli, Flaminia, Diodato, Daria, Onesimo, Roberta, Zampino, Giuseppe, Novelli, Antonio, Digilio, Maria Cristina, Bartuli, Andrea, Dentici, Maria Lisa, Parisi, Pasquale, Galosi, Serena, Tonduti, Davide, Bertini, Enrico, Sinibaldi, Lorenzo, and Specchio, Nicola

Published
2024
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5. Spectrum of ERCC6 -Related Cockayne Syndrome (Type B): From Mild to Severe Forms.

Author

Sartorelli, Jacopo, Travaglini, Lorena, Macchiaiolo, Marina, Garone, Giacomo, Gonfiantini, Michaela Veronika, Vecchio, Davide, Sinibaldi, Lorenzo, Frascarelli, Flaminia, Ceccatelli, Viola, Petrillo, Sara, Piemonte, Fiorella, Piccolo, Gabriele, Novelli, Antonio, Longo, Daniela, Pro, Stefano, D'Amico, Adele, Bertini, Enrico Silvio, and Nicita, Francesco

Subjects
REFERENCE values, ATAXIA, SYNDROMES, CYTOPLASMIC filaments, BIOMARKERS, MISSENSE mutation
Abstract

(1) Background: Cockayne syndrome (CS) is an ultra-rare multisystem disorder, classically subdivided into three forms and characterized by a clinical spectrum without a clear genotype-phenotype correlation for both the two causative genes ERCC6 (CS type B) and ERCC8 (CS type A). We assessed this, presenting a series of patients with genetically confirmed CSB. (2) Materials and Methods: We retrospectively collected demographic, clinical, genetic, neuroimaging, and serum neurofilament light-chain (sNFL) data about CSB patients; diagnostic and severity scores were also determined. (3) Results: Data of eight ERCC6/CSB patients are presented. Four patients had CS I, three patients CS II, and one patient CS III. Various degrees of ataxia and spasticity were cardinal neurologic features, with variably combined systemic characteristics. Mean age at diagnosis was lower in the type II form, in which classic CS signs were more evident. Interestingly, sNFL determination appeared to reflect clinical classification. Two novel premature stop codon and one novel missense variants were identified. All CS I subjects harbored the p.Arg735Ter variant; the milder CS III subject carried the p.Leu764Ser missense change. (4) Conclusion: Our work confirms clinical variability also in the ERCC6/CSB type, where manifestations may range from severe involvement with prenatal or neonatal onset to normal psychomotor development followed by progressive ataxia. We propose, for the first time in CS, sNFL as a useful peripheral biomarker, with increased levels compared to currently available reference values and with the potential ability to reflect disease severity. [ABSTRACT FROM AUTHOR]

Published
2024
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6. Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome.

Author

Calcagni, Giulio, Ferrigno, Federica, Franceschini, Alessio, Dentici, Maria Lisa, Capolino, Rossella, Sinibaldi, Lorenzo, Minotti, Chiara, Micalizzi, Alessia, Alesi, Viola, Novelli, Antonio, Baban, Anwar, Parlapiano, Giovanni, Coviello, Domenico, Versacci, Paolo, Putotto, Carolina, Chinali, Marcello, Drago, Fabrizio, Bartuli, Andrea, Marino, Bruno, and Digilio, Maria Cristina

Subjects
CONGENITAL heart disease, CARDIAC patients, AORTIC valve insufficiency, PATENT ductus arteriosus, AORTIC coarctation, PULMONARY valve, TRICUSPID valve
Abstract

Sotos syndrome is an autosomal dominant condition characterized by overgrowth with advanced bone age, macrodolicocephaly, motor developmental delays and learning difficulties, and characteristic facial features caused by heterozygous pathogenetic variants in the NSD1 gene located on chromosome 5q35. The prevalence of heart defects (HDs) in individuals with Sotos syndrome is estimated to be around 15–40%. Septal defects and patent ductus arteriosus are the most commonly diagnosed malformations, but complex defects have also been reported. The aim of our study was to analyze the prevalence of HD, the anatomic types, and the genetic characteristics of 45 patients with Sotos syndrome carrying pathogenetic variants of NSD1 or a 5q35 deletion encompassing NSD1, who were followed at Bambino Gesù Children's Hospital in Rome. Thirty-nine of the forty-five patients (86.7%) had a mutation in NSD1, while six of the forty-five (13.3%) had a deletion. Most of the patients (62.2%, 28/45) were male, with a mean age of 14 ± 7 years (range 0.2–37 years). A total of 27/45 (60.0%) of the patients had heart defects, isolated or combined with other defects, including septal defects (12 patients), aortic anomalies (9 patients), mitral valve and/or tricuspid valve dysplasia/insufficiency (1 patient), patent ductus arteriosus (3 patients), left ventricular non-compaction/hypertrabeculated left ventricle (LV) (4 patients), aortic coarctation (1 patient), aortopulmonary window (1 patient), and pulmonary valve anomalies (3 patients). The prevalences of HD in the two subgroups (deletion versus intragenic mutation) were similar (66.7% (4/6) in the deletion group versus 58.91% (23/39) in the intragenic variant group). Our results showed a higher prevalence of HD in patients with Sotos syndrome in comparison to that described in the literature, with similar distributions of patients with mutated and deleted genes. An accurate and detailed echocardiogram should be performed in patients with Sotos syndrome at diagnosis, and a specific cardiological follow-up program is needed. [ABSTRACT FROM AUTHOR]

Published
2024
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7. Refining of the electroclinical phenotype in familial and sporadic cases of CSNK2B-related Neurodevelopmental Syndrome

Author

Trivisano, Marina, primary, Dominicis, Angela De, additional, Stregapede, Fabrizia, additional, Quintavalle, Chiara, additional, Micalizzi, Alessia, additional, Cappelletti, Simona, additional, Lisa Dentici, Maria, additional, Sinibaldi, Lorenzo, additional, Calabrese, Costanza, additional, Terracciano, Alessandra, additional, Vigevano, Federico, additional, Novelli, Antonio, additional, and Specchio, Nicola, additional

Published
2023
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8. From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome

Author

Onesimo, Roberta, primary, Sforza, Elisabetta, additional, Trevisan, Valentina, additional, Leoni, Chiara, additional, Giorgio, Valentina, additional, Rigante, Donato, additional, Kuczynska, Eliza Maria, additional, Proli, Francesco, additional, Agazzi, Cristiana, additional, Limongelli, Domenico, additional, Digilio, Maria Cistina, additional, Dentici, Maria Lisa, additional, Macchiaiolo, Maria, additional, Novelli, Antonio, additional, Bartuli, Andrea, additional, Sinibaldi, Lorenzo, additional, Tartaglia, Marco, additional, and Zampino, Giuseppe, additional

Published
2023
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11. Clinical Variability of Shashi-Pena Syndrome: A Novel ASXL2Variant Associated with Overgrowth and Minor Neurodevelopmental Features

Author

Minotti, Chiara, Graziani, Ludovico, Micalizzi, Alessia, Dentici, Maria Lisa, Capolino, Rossella, Sinibaldi, Lorenzo, Lanari, Valentina, Dallapiccola, Bruno, Novelli, Giuseppe, Novelli, Antonio, and Digilio, Maria Cristina

Abstract

Introduction:Shashi-Pena syndrome (SHAPNS) is a rare congenital disorder characterized by macrocephaly, delayed psychomotor development with intellectual disability, hypotonia, seizures, episodic hypoglycemia, distinct facial features, and glabellar nevus flammeus, caused by heterozygous variants of the ASXL2gene. Case Presentation:We report on a 15-year-old patient in care at our hospital since the age of 4 years presenting with minor neurodevelopmental problems, marked postnatal overgrowth without advanced bone age, and dental anomalies. Conclusion:Patients described in the literature with SHAPNS are reported indicating a broad spectrum of clinical manifestations. The present patient manifests an atypical presentation of SHAPNS due to a novel heterozygous ASXL2variant. This study supports the inclusion of SHAPNS in overgrowth disorders with macrocephaly, suggesting the analysis of the ASXL2gene even in suspected subjects with normal bone age and confirms dental anomalies as a clinical feature of this syndrome. SHAPNS could be inferred even in the absence of developmental delay or epilepsy.

Published
2024
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12. Loss-of-function variants in ERFare associated with a Noonan syndrome-like phenotype with or without craniosynostosis

Author

Dentici, Maria Lisa, Niceta, Marcello, Lepri, Francesca Romana, Mancini, Cecilia, Priolo, Manuela, Bonnard, Adeline Alice, Cappelletti, Camilla, Leoni, Chiara, Ciolfi, Andrea, Pizzi, Simone, Cordeddu, Viviana, Rossi, Cesare, Ferilli, Marco, Mucciolo, Mafalda, Colona, Vito Luigi, Fauth, Christine, Bellini, Melissa, Biasucci, Giacomo, Sinibaldi, Lorenzo, Briuglia, Silvana, Gazzin, Andrea, Carli, Diana, Memo, Luigi, Trevisson, Eva, Schiavariello, Concetta, Luca, Maria, Novelli, Antonio, Michot, Caroline, Sweertvaegher, Anne, Germanaud, David, Scarano, Emanuela, De Luca, Alessandro, Zampino, Giuseppe, Zenker, Martin, Mussa, Alessandro, Dallapiccola, Bruno, Cavé, Helene, Digilio, Maria Cristina, and Tartaglia, Marco

Abstract

Pathogenic, largely truncating variants in the ETS2 repressor factor (ERF) gene, encoding a transcriptional regulator negatively controlling RAS-MAPK signaling, have been associated with syndromic craniosynostosis involving various cranial sutures and Chitayat syndrome, an ultrarare condition with respiratory distress, skeletal anomalies, and facial dysmorphism. Recently, a single patient with craniosynostosis and a phenotype resembling Noonan syndrome (NS), the most common disorder among the RASopathies, was reported to carry a de novo loss-of-function variant in ERF. Here, we clinically profile 26 individuals from 15 unrelated families carrying different germline heterozygous variants in ERFand showing a phenotype reminiscent of NS. The majority of subjects presented with a variable degree of global developmental and/or language delay. Their shared facial features included absolute/relative macrocephaly, high forehead, hypertelorism, palpebral ptosis, wide nasal bridge, and low-set/posteriorly angulated ears. Stature was below the 3rd centile in two-third of the individuals, while no subject showed typical NS cardiac involvement. Notably, craniosynostosis was documented only in three unrelated individuals, while a dolichocephalic aspect of the skull in absence of any other evidence supporting a premature closing of sutures was observed in other 10 subjects. Unilateral Wilms tumor was diagnosed in one individual. Most cases were familial, indicating an overall low impact on fitness. Variants were nonsense and frameshift changes, supporting ERFhaploinsufficiency. These findings provide evidence that heterozygous loss-of-function variants in ERFcause a “RASopathy” resembling NS with or without craniosynostosis, and allow a first dissection of the molecular circuits contributing to MAPK signaling pleiotropy.

Published
2024
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13. Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.

Author

Sinibaldi, Lorenzo, Garone, Giacomo, Mandarino, Alessandra, Iarossi, Giancarlo, Chioma, Laura, Dentici, Maria Lisa, Merla, Giuseppe, Agolini, Emanuele, Micalizzi, Alessia, Mancini, Cecilia, Niceta, Marcello, Macchiaiolo, Marina, Diodato, Daria, Onesimo, Roberta, Blandino, Rita, Delogu, Angelica Bibiana, De Rosa, Gabriella, Trevisan, Valentina, Iademarco, Mariella, and Zampino, Giuseppe

Subjects
*CONGENITAL heart disease, *PULMONARY valve, *CONSCIOUSNESS raising, *HEART septum, *MITRAL valve prolapse, *CEREBRAL palsy
Abstract

CTNNB1 [OMIM *116806] encodes β‐catenin, an integral part of the cadherin/catenin complex, which functions as effector of Wnt signaling. CTNNB1 is highly expressed in brain as well as in other tissues, including heart. Heterozygous CTNNB1 pathogenic variations are associated with a neurodevelopmental disorder characterized by spastic diplegia and visual defects (NEDSDV) [OMIM #615075], featuring psychomotor delay, intellectual disability, behavioral disturbances, movement disorders, visual defects and subtle facial and somatic features. We report on a new series of 19 NEDSDV patients (mean age 10.3 years), nine of whom bearing novel CTNNB1 variants. Notably, five patients showed congenital heart anomalies including absent pulmonary valve with intact ventricular septum, atrioventricular canal with hypoplastic aortic arch, tetralogy of Fallot, and mitral valve prolapse. We focused on the cardiac phenotype characterizing such cases and reviewed the congenital heart defects in previously reported NEDSDV patients. While congenital heart defects had occasionally been reported so far, the present findings configure a higher rate of cardiac anomalies, suggesting dedicated heart examination to NEDSDV clinical management. [ABSTRACT FROM AUTHOR]

Published
2023
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14. A Novel Autosomal Recessive Variant of the NRL Gene Causing Enhanced S-Cone Syndrome: A Morpho-Functional Analysis of Two Unrelated Pediatric Patients

Author

Iarossi, Giancarlo, primary, Sinibaldi, Lorenzo, additional, Passarelli, Chiara, additional, Coppe’, Andrea Maria, additional, Cappelli, Alessandro, additional, Petrocelli, Gianni, additional, Catena, Gino, additional, Perrone, Chiara, additional, Falsini, Benedetto, additional, Novelli, Antonio, additional, Bartuli, Andrea, additional, and Buzzonetti, Luca, additional

Published
2022
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15. Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals

Author

Maltese, Paolo Enrico, primary, Colombo, Leonardo, additional, Martella, Salvatore, additional, Rossetti, Luca, additional, El Shamieh, Said, additional, Sinibaldi, Lorenzo, additional, Passarelli, Chiara, additional, Coppè, Andrea Maria, additional, Buzzonetti, Luca, additional, Falsini, Benedetto, additional, Chiurazzi, Pietro, additional, Placidi, Giorgio, additional, Tanzi, Benedetta, additional, Bertelli, Matteo, additional, and Iarossi, Giancarlo, additional

Published
2022
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18. Congenital heart defects in molecularly confirmed KBG syndrome patients

Author

Digilio, Maria Cristina, primary, Calcagni, Giulio, additional, Gnazzo, Maria, additional, Versacci, Paolo, additional, Dentici, Maria Lisa, additional, Capolino, Rossella, additional, Sinibaldi, Lorenzo, additional, Baban, Anwar, additional, Putotto, Carolina, additional, Alfieri, Paolo, additional, Unolt, Marta, additional, Lepri, Francesca R., additional, Alesi, Viola, additional, Genovese, Silvia, additional, Novelli, Antonio, additional, Marino, Bruno, additional, and Dallapiccola, Bruno, additional

Published
2021
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23. Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function

Author

Zilmer, Monica, Edmondson, Andrew C., Khetarpal, Sumeet A., Alesi, Viola, Zaki, Maha S., Rostasy, Kevin, Madsen, Camilla G., Lepri, Francesca R., Sinibaldi, Lorenzo, Cusmai, Raffaella, Novelli, Antonio, Issa, Mahmoud Y., Fenger, Christina D., Jamra, Rami Abou, Reutter, Heiko, Briuglia, Silvana, Agolini, Emanuele, Hansen, Lars, Petäjä-Repo, Ulla E., Hintze, John, Raymond, Kimiyo M., Liedtke, Kristen, Stanley, Valentina, Musaev, Damir, Gleeson, Joseph G., Vitali, Cecilia, O’Brien, W. Timothy, Gardella, Elena, Rubboli, Guido, Rader, Daniel J., Schjoldager, Katrine T., Møller, Rikke S., Zilmer, Monica, Edmondson, Andrew C., Khetarpal, Sumeet A., Alesi, Viola, Zaki, Maha S., Rostasy, Kevin, Madsen, Camilla G., Lepri, Francesca R., Sinibaldi, Lorenzo, Cusmai, Raffaella, Novelli, Antonio, Issa, Mahmoud Y., Fenger, Christina D., Jamra, Rami Abou, Reutter, Heiko, Briuglia, Silvana, Agolini, Emanuele, Hansen, Lars, Petäjä-Repo, Ulla E., Hintze, John, Raymond, Kimiyo M., Liedtke, Kristen, Stanley, Valentina, Musaev, Damir, Gleeson, Joseph G., Vitali, Cecilia, O’Brien, W. Timothy, Gardella, Elena, Rubboli, Guido, Rader, Daniel J., Schjoldager, Katrine T., and Møller, Rikke S.

Abstract

Congenital disorders of glycosylation are a growing group of rare genetic disorders caused by deficient protein and lipid glycosylation. Here, we report the clinical, biochemical, and molecular features of seven patients from four families with GALNT2-congenital disorder of glycosylation (GALNT2-CDG), an O-linked glycosylation disorder. GALNT2 encodes the Golgi-localized polypeptide N-acetyl-D-galactosamine-transferase 2 isoenzyme. GALNT2 is widely expressed in most cell types and directs initiation of mucin-type protein O-glycosylation. All patients showed loss of O-glycosylation of apolipoprotein C-III, a non-redundant substrate for GALNT2. Patients with GALNT2-CDG generally exhibit a syndrome characterized by global developmental delay, intellectual disability with language deficit, autistic features, behavioural abnormalities, epilepsy, chronic insomnia, white matter changes on brain MRI, dysmorphic features, decreased stature, and decreased high density lipoprotein cholesterol levels. Rodent (mouse and rat) models of GALNT2-CDG recapitulated much of the human phenotype, including poor growth and neurodevelopmental abnormalities. In behavioural studies, GALNT2-CDG mice demonstrated cerebellar motor deficits, decreased sociability, and impaired sensory integration and processing. The multisystem nature of phenotypes in patients and rodent models of GALNT2-CDG suggest that there are multiple non-redundant protein substrates of GALNT2 in various tissues, including brain, which are critical to normal growth and development.

Published
2020

24. Converging Evidence for the Association of Functional Genetic Variation in the Serotonin Receptor 2a Gene With Prefrontal Function and Olanzapine Treatment

Author

Blasi, Giuseppe, De Virgilio, Caterina, Papazacharias, Apostolos, Taurisano, Paolo, Gelao, Barbara, Fazio, Leonardo, Ursini, Gianluca, Sinibaldi, Lorenzo, Andriola, Ileana, Masellis, Rita, Romano, Raffaella, Rampino, Antonio, Di Giorgio, Annabella, Lo Bianco, Luciana, Caforio, Grazia, Piva, Francesco, Popolizio, Teresa, Bellantuono, Cesario, Todarello, Orlando, Kleinman, Joel E., Gadaleta, Gemma, Weinberger, Daniel R., and Bertolino, Alessandro

Published
2013
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27. Congenital heart defects in molecularly confirmed KBG syndrome patients.

Author

Digilio, Maria Cristina, Calcagni, Giulio, Gnazzo, Maria, Versacci, Paolo, Dentici, Maria Lisa, Capolino, Rossella, Sinibaldi, Lorenzo, Baban, Anwar, Putotto, Carolina, Alfieri, Paolo, Unolt, Marta, Lepri, Francesca R., Alesi, Viola, Genovese, Silvia, Novelli, Antonio, Marino, Bruno, and Dallapiccola, Bruno

Abstract

Congenital heart defects (CHDs) are known to occur in 9%–25% of patients with KBG syndrome. In this study we analyzed the prevalence and anatomic types of CHDs in 46 personal patients with KBG syndrome, carrying pathogenetic variants in ANKRD11 or 16q24.3 deletion, and reviewed CHDs in patients with molecular diagnosis of KBG syndrome from the literature. CHD was diagnosed in 15/40 (38%) patients with ANKRD11 variant, and in one patient with 16q24.3 deletion. Left ventricular outflow tract obstructions have been diagnosed in 9/15 (60%), subaortic or muscular ventricular septal defect in 5/15 (33%), dextrocardia in 1/15 (8%). The single patient with 16q24.3 deletion and CHD had complete atrioventricular septal defect (AVSD) with aortic coarctation. Review of KBG patients from the literature and present series showed that septal defects have been diagnosed in 44% (27/61) of the cases, left ventricular tract obstructions in 31% (19/61), AVSD in 18% (11/61). Septal defects have been diagnosed in 78% of total patients with 16q24.3 deletion. Valvar anomalies are frequently diagnosed, prevalently involving the left side of the heart. A distinctive association with AVSD is identifiable and could represent a marker to suggest the diagnosis in younger patients. In conclusion, after precise molecular diagnosis and systematic cardiological screening the prevalence of CHD in KBG syndrome seems to be higher than previously reported in clinical articles. In addition to septal defects, left‐sided anomalies and AVSD should be considered. Clinical management of KBG syndrome should include accurate and detailed echocardiogram at time of diagnosis. [ABSTRACT FROM AUTHOR]

Published
2022
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28. 7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling

Author

Dentici, Maria Lisa, primary, Bergonzini, Paola, additional, Scibelli, Francesco, additional, Caciolo, Cristina, additional, De Rose, Paola, additional, Cumbo, Francesca, additional, Alesi, Viola, additional, Capolino, Rossella, additional, Zanni, Ginevra, additional, Sinibaldi, Lorenzo, additional, Novelli, Antonio, additional, Tartaglia, Marco, additional, Digilio, Maria Cristina, additional, Dallapiccola, Bruno, additional, Vicari, Stefano, additional, and Alfieri, Paolo, additional

Published
2020
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29. Further insight into the neurobehavioral pattern of children carrying the 2p16.3 heterozygous deletion involvingNRXN1: Report of five new cases

Author

Alfieri, Paolo, primary, Scibelli, Francesco, additional, Sinibaldi, Lorenzo, additional, Valeri, Giovanni, additional, Caciolo, Cristina, additional, Novello, Roberta Lucia, additional, Novelli, Antonio, additional, Digilio, Maria Cristina, additional, Tartaglia, Marco, additional, and Vicari, Stefano, additional

Published
2020
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31. TUBB3 E410Ksyndrome: Case report and review of the clinical spectrum ofTUBB3mutations

Author

Dentici, Maria L., primary, Maglione, Vittorio, additional, Agolini, Emanuele, additional, Catena, Gino, additional, Capolino, Rossella, additional, Lanari, Valentina, additional, Novelli, Antonio, additional, Sinibaldi, Lorenzo, additional, Vecchio, Davide, additional, Gonfiantini, Michaela V., additional, Macchiaiolo, Marina, additional, Digilio, Maria C., additional, Dallapiccola, Bruno, additional, and Bartuli, Andrea, additional

Published
2020
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32. Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function

Author

Zilmer, Monica, primary, Edmondson, Andrew C, additional, Khetarpal, Sumeet A, additional, Alesi, Viola, additional, Zaki, Maha S, additional, Rostasy, Kevin, additional, Madsen, Camilla G, additional, Lepri, Francesca R, additional, Sinibaldi, Lorenzo, additional, Cusmai, Raffaella, additional, Novelli, Antonio, additional, Issa, Mahmoud Y, additional, Fenger, Christina D, additional, Abou Jamra, Rami, additional, Reutter, Heiko, additional, Briuglia, Silvana, additional, Agolini, Emanuele, additional, Hansen, Lars, additional, Petäjä-Repo, Ulla E, additional, Hintze, John, additional, Raymond, Kimiyo M, additional, Liedtke, Kristen, additional, Stanley, Valentina, additional, Musaev, Damir, additional, Gleeson, Joseph G, additional, Vitali, Cecilia, additional, O’Brien, W Timothy, additional, Gardella, Elena, additional, Rubboli, Guido, additional, Rader, Daniel J, additional, Schjoldager, Katrine T, additional, and Møller, Rikke S, additional

Published
2020
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33. KBG syndrome: Common and uncommon clinical features based on 31 new patients

Author

Gnazzo, Maria, primary, Lepri, Francesca R, additional, Dentici, Maria Lisa, additional, Capolino, Rossella, additional, Pisaneschi, Elisa, additional, Agolini, Emanuele, additional, Rinelli, Martina, additional, Alesi, Viola, additional, Versacci, Paolo, additional, Genovese, Silvia, additional, Cesario, Claudia, additional, Sinibaldi, Lorenzo, additional, Baban, Anwar, additional, Bartuli, Andrea, additional, Marino, Bruno, additional, Cappa, Marco, additional, Dallapiccola, Bruno, additional, Novelli, Antonio, additional, and Digilio, Maria Cristina, additional

Published
2020
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34. Duplication 18q21.31-q22.2

Author

Ceccarini, Caterina, Sinibaldi, Lorenzo, Bernardini, Laura, De Simone, Roberto, Mingarelli, Rita, Novelli, Antonio, and Dallapiccola, Bruno

Published
2007
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36. Obsessive Compulsive Symptoms and Psychopathological Profile in Children and Adolescents with KBG Syndrome

Author

Alfieri, Paolo, primary, Demaria, Francesco, additional, Licchelli, Serena, additional, Santonastaso, Ornella, additional, Caciolo, Cristina, additional, Digilio, Maria, additional, Sinibaldi, Lorenzo, additional, Leoni, Chiara, additional, Gnazzo, Maria, additional, Tartaglia, Marco, additional, Pasqualetti, Patrizio, additional, and Vicari, Stefano, additional

Published
2019
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37. Delineation of MidXq28‐duplication syndrome distal to MECP2 and proximal to RAB39B genes

Author

Sinibaldi, Lorenzo, primary, Parisi, Valentina, additional, Lanciotti, Silvia, additional, Fontana, Paolo, additional, Kuechler, Alma, additional, Baujat, Genevieve, additional, Torres, Barbara, additional, Koetting, Judith, additional, Splendiani, Alessandra, additional, Postorivo, Diana, additional, Beygo, Jasmin, additional, Garaci, Francesco G., additional, Malan, Valerie, additional, Lüdecke, Hermann‐Josef, additional, Guida, Valentina, additional, Krumbiegel, Mandy, additional, Lonardo, Fortunato, additional, Novelli, Antonio, additional, Albrecht, Beate, additional, Perria, Chiara, additional, Scarano, Gioacchino, additional, Spielmann, Malte, additional, Nardone, Annamaria M., additional, Battaglia, Agatino, additional, Brancati, Francesco, additional, and Bernardini, Laura, additional

Published
2019
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38. Further insight into the neurobehavioral pattern of children carrying the 2p16.3 heterozygous deletion involving NRXN1: Report of five new cases.

Author

Alfieri, Paolo, Scibelli, Francesco, Sinibaldi, Lorenzo, Valeri, Giovanni, Caciolo, Cristina, Novello, Roberta Lucia, Novelli, Antonio, Digilio, Maria Cristina, Tartaglia, Marco, and Vicari, Stefano

Subjects
PSYCHOLOGICAL stress, HETEROZYGOSITY, AUTISM spectrum disorders, NEUROLOGICAL disorders, DELETION mutation, INTELLECTUAL disabilities, CONCEPTUAL structures
Abstract

Increasing evidence links heterozygosity for NRXN1 gene deletions to a clinically wide spectrum of neurodevelopmental, psychiatric, and neurological disorders. However, to date, the neurocognitive and social communication features of children carrying this genomic rearrangement have not been assessed in detail. The cognitive and behavioral profiles of five children carrying a heterozygous NRXN1 deletion were investigated through systematic assessment of the cognitive and developmental levels, adaptive profile and presence of behavioral symptoms and autistic features. Furthermore, four transmitting parents were assessed by means of cognitive, psychopathological and parental stress tests. A below‐average cognitive level was documented in all children, and defective adaptive levels were observed in four of them. Three of the five children were diagnosed as having autism spectrum disorder in comorbidity with intellectual disability/global developmental delay, with a major impairment in social communication skills. The remaining two children presented with isolated intellectual disability and an unclassifiable neurodevelopmental disorder, respectively. This study provide data contributing to a more accurate characterization of the neurobehavioral phenotype of individuals carrying heterozygous NRXN1 deletions. This analysis indicates that these structural rearrangements are associated with a variable expression of neuropsychiatric symptoms, and cast some doubts about the incomplete penetrance of the disorder. [ABSTRACT FROM AUTHOR]

Published
2020
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39. TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations.

Author

Dentici, Maria L., Maglione, Vittorio, Agolini, Emanuele, Catena, Gino, Capolino, Rossella, Lanari, Valentina, Novelli, Antonio, Sinibaldi, Lorenzo, Vecchio, Davide, Gonfiantini, Michaela V., Macchiaiolo, Marina, Digilio, Maria C., Dallapiccola, Bruno, and Bartuli, Andrea

Abstract

The tubulinopathies refer to a wide range of brain malformations caused by mutations in one of the seven genes encoding different tubulin's isotypes. The β‐tubulin isotype III (TUBB3) gene has a primary function in nervous system development and axon generation and maintenance, due to its neuron‐specific expression pattern. A recurrent heterozygous mutation, c.1228G > A; p.E410K, in TUBB3 gene is responsible of a rare disorder clinically characterized by congenital fibrosis of the extraocular muscle type 3 (CFEOM3), intellectual disability and a wide range of neurological and endocrine abnormalities. Other mutations have been described spanning the entire gene and genotype–phenotype correlations have been proposed. We report on a 3‐year‐old boy in whom clinical exome sequencing allowed to identify a de novo TUBB3 E410K mutation as the molecular cause underlying a complex phenotype characterized by a severe bilateral palpebral ptosis refractory to eye surgery, psychomotor delay, absent speech, hypogonadism, celiac disease, and cyclic vomiting. Brain MRI revealed thinning of the corpus callosum with no evidence of malformation cortical dysplasia. We reviewed available records of patients with TUBB3 E410K mutation and compared their phenotype with the clinical outcome of patients with other mutations in TUBB3 gene. The present study confirms that TUBB3 E410K results in a clinically recognizable phenotype, unassociated to the distinct cortical dysplasia caused by other mutations in the same gene. Early molecular characterization of TUBB3 E410K syndrome is critical for targeted genetic counseling and prompt prospective care in term of neurological, ophthalmological, endocrine, and gastrointestinal follow‐up. [ABSTRACT FROM AUTHOR]

Published
2020
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40. BDNF rs6265 methylation and genotype interact on risk for schizophrenia

Author

Ursini, Gianluca, primary, Cavalleri, Tommaso, additional, Fazio, Leonardo, additional, Angrisano, Tiziana, additional, Iacovelli, Luisa, additional, Porcelli, Annamaria, additional, Maddalena, Giancarlo, additional, Punzi, Giovanna, additional, Mancini, Marina, additional, Gelao, Barbara, additional, Romano, Raffaella, additional, Masellis, Rita, additional, Calabrese, Francesca, additional, Rampino, Antonio, additional, Taurisano, Paolo, additional, Giorgio, Annabella Di, additional, Keller, Simona, additional, Tarantini, Letizia, additional, Sinibaldi, Lorenzo, additional, Quarto, Tiziana, additional, Popolizio, Teresa, additional, Caforio, Grazia, additional, Blasi, Giuseppe, additional, Riva, Marco A., additional, De Blasi, Antonio, additional, Chiariotti, Lorenzo, additional, Bollati, Valentina, additional, and Bertolino, Alessandro, additional

Published
2016
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42. DATby perceived MC interaction on human prefrontal activity and connectivity during emotion processing

Author

Taurisano, Paolo, primary, Blasi, Giuseppe, additional, Romano, Raffaella, additional, Sambataro, Fabio, additional, Fazio, Leonardo, additional, Gelao, Barbara, additional, Ursini, Gianluca, additional, Lo Bianco, Luciana, additional, Di Giorgio, Annabella, additional, Ferrante, Francesca, additional, Papazacharias, Apostolos, additional, Porcelli, Annamaria, additional, Sinibaldi, Lorenzo, additional, Popolizio, Teresa, additional, and Bertolino, Alessandro, additional

Published
2012
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43. Poster #37 ASSOCIATION OF DRD2 GENETIC VARIATION AND SCHIZOTIPY WITH ATTENTIONAL PROCESSING AND D2 RECEPTORS AVAILABILITY

Author

Taurisano, Paolo, primary, Mancini, Marina, additional, Romano, Raffaella, additional, Ursini, Gianluca, additional, Asabella, Artor N., additional, Gelao, Barbara, additional, Fazio, Leonardo, additional, Bianco, Luciana Lo, additional, Di Giorgio, Annabella, additional, Masellis, Rita, additional, Caforio, Grazia, additional, Sinibaldi, Lorenzo, additional, Popolizio, Teresa, additional, Blasi, Giuseppe, additional, Rubini, Giuseppe, additional, and Bertolino, Alessandro, additional

Published
2012
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44. Poster #28 INTERACTION BETWEEN COMT VAL158MET POLYMORPHISM AND SUSCEPTIBILITY FOR SCHIZOPHRENIA DURING EMOTION PROCESSING

Author

Bianco, Luciana Lo, primary, Ferrante, Francesca, additional, Taurisano, Paolo, additional, Giorgio, Annabella Di, additional, Gelao, Barbara, additional, Fazio, Leonardo, additional, Ursini, Gainluca, additional, Romano, Raffaella, additional, Papazacharias, Apostolos, additional, Caforio, Grazia, additional, Sinibaldi, Lorenzo, additional, Popolizio, Teresa, additional, Bellantuono, Cesario, additional, Blasi, Giuseppe, additional, and Bertolino, Alessandro, additional

Published
2012
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45. Poster #23 INTERACTION BETWEEN DRD2 GENETIC VARIATION AND BROMOCRIPTINE STIMULATION ON PREFRONTAL RESPONSE DURING ATTENTIONAL CONTROL IN HEALTHY INDIVIDUALS

Author

Antonucci, Linda A., primary, Taurisano, Paolo, additional, Gelao, Barbara, additional, Fazio, Leonardo, additional, Selvaggi, Pierluigi, additional, Quarto, Tiziana, additional, Ursini, Gianluca, additional, Rampino, Antonio, additional, Romano, Raffaella, additional, Papazacharias, Apostolos, additional, Giorgio, Annabella Di, additional, Caforio, Grazia, additional, Popolizio, Teresa, additional, Sinibaldi, Lorenzo, additional, Blasi, Giuseppe, additional, and Bertolino, Alessandro, additional

Published
2012
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46. Poster #103 INTERACTION BETWEEN COMT GENOTYPE, CANNABIS USE, AND BFQ MEASURES OF SOCIABILITY

Author

Colizzi, Marco, primary, Ursini, Gianluca, additional, Porcelli, Annamaria, additional, Mancini, Marina, additional, Gelao, Barbara, additional, Rampino, Antonio, additional, Sinibaldi, Lorenzo, additional, Attrotto, Maria T., additional, Colagiorgio, Lucia, additional, Rizzo, Giuseppe, additional, Maddalena, Giancarlo, additional, Masellis, Rita, additional, Giorgio, Annabella Di, additional, Caforio, Grazia, additional, Blasi, Giuseppe, additional, and Bertolino, Alessandro, additional

Published
2012
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48. DRD2 Genotype-Based Variation of Default Mode Network Activity and of Its Relationship With Striatal DAT Binding

Author

Sambataro, Fabio, primary, Fazio, Leonardo, additional, Taurisano, Paolo, additional, Gelao, Barbara, additional, Porcelli, Annamaria, additional, Mancini, Marina, additional, Sinibaldi, Lorenzo, additional, Ursini, Gianluca, additional, Masellis, Rita, additional, Caforio, Grazia, additional, Di Giorgio, Annabella, additional, Niccoli-Asabella, Artor, additional, Popolizio, Teresa, additional, Blasi, Giuseppe, additional, and Bertolino, Alessandro, additional

Published
2011
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49. DRD2/AKT1 interaction on D2 c-AMP independent signaling, attentional processing, and response to olanzapine treatment in schizophrenia

Author

Blasi, Giuseppe, primary, Napolitano, Francesco, additional, Ursini, Gianluca, additional, Taurisano, Paolo, additional, Romano, Raffaella, additional, Caforio, Grazia, additional, Fazio, Leonardo, additional, Gelao, Barbara, additional, Di Giorgio, Annabella, additional, Iacovelli, Luisa, additional, Sinibaldi, Lorenzo, additional, Popolizio, Teresa, additional, Usiello, Alessandro, additional, and Bertolino, Alessandro, additional

Published
2010
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50. THE HIS452TYR POLYMORPHISM OF THE 5-HT2A RECEPTOR GENE MODULATES ACTIVITY IN PREFRONTAL CORTEX DURING ATTENTIONAL CONTROL IN HEALTHY SUBJECTS

Author

Papazacharias, Apostolos, primary, Blasi, Giuseppe, additional, Taurisano, Paolo, additional, Antonucci, Linda, additional, Fazio, Leonardo, additional, Di Giorgio, Annabella, additional, Ursini, Gianluca, additional, Sinibaldi, Lorenzo, additional, Romano, Raffaella, additional, Gelao, Barbara, additional, Bianco, Luciana Lo, additional, Caforio, Grazia, additional, Masellis, Rita, additional, Popolizio, Teresa, additional, Nardini, Marcello, additional, and Bertolino, Alessandro, additional

Published
2010
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