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13 results on '"D'Asdia, Maria Cecilia"'

1. Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules

Author

Mastromoro, Gioia, Santoro, Claudia, Motta, Marialetizia, Sorrentino, Ugo, Daniele, Paola, Peduto, Cristina, Petrizzelli, Francesco, Tripodi, Martina, Pinna, Valentina, Zanobio, Mariateresa, Rotundo, Giovannina, Bellacchio, Emanuele, Lepri, Francesca, Farina, Antonella, D’Asdia, Maria Cecilia, Piceci-Sparascio, Francesca, Biagini, Tommaso, Petracca, Antonio, Castori, Marco, Melis, Daniela, Accadia, Maria, Traficante, Giovanna, Tarani, Luigi, Fontana, Paolo, Sirchia, Fabio, Paparella, Roberto, Currò, Aurora, Benedicenti, Francesco, Scala, Iris, Dentici, Maria Lisa, Leoni, Chiara, Trevisan, Valentina, Cecconi, Antonella, Giustini, Sandra, Pizzuti, Antonio, Salviati, Leonardo, Novelli, Antonio, Zampino, Giuseppe, Zenker, Martin, Genuardi, Maurizio, Digilio, Maria Cristina, Papi, Laura, Perrotta, Silverio, Nigro, Vincenzo, Castellanos, Elisabeth, Mazza, Tommaso, Trevisson, Eva, Tartaglia, Marco, Piluso, Giulio, and De Luca, Alessandro

Published
2024
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3. Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome

Author

Piceci-Sparascio, Francesca, Micale, Lucia, Torres, Barbara, Guida, Valentina, Consoli, Federica, Torrente, Isabella, Onori, Annamaria, Frustaci, Emanuela, D’Asdia, Maria Cecilia, Petrizzelli, Francesco, Bernardini, Laura, Mancini, Cecilia, Soli, Fiorenza, Cocciadiferro, Dario, Guadagnolo, Daniele, Mastromoro, Gioia, Putotto, Carolina, Fontana, Franco, Brunetti-Pierri, Nicola, Novelli, Antonio, Pizzuti, Antonio, Marino, Bruno, Digilio, Maria Cristina, Mazza, Tommaso, Dallapiccola, Bruno, Ruiz-Perez, Victor Luis, Tartaglia, Marco, Castori, Marco, and De Luca, Alessandro

Published
2023
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8. Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome

Author

Ministerio de Sanidad (España), Sapienza Università di Roma, Piceci-Sparascio, Francesca, Micale, Lucía, Torres, Bárbara, Guida, Valentina, Consoli, Federica, Torrente, Isabella, Onori, Annamaria, Frustaci, Emanuela, D'Asdia, Maria Cecilia, Petrizzelli, Francesco, Bernardini, Laura, Mancini, Cecilia, Soli, Fiorenza, Cocciadiferro, Darío, Guadagnolo, Daniele, Mastromoro, Gioia, Putotto, Carolina, Fontana, Franco, Brunetti-Pierri, Nicola, Novelli, Antonio, Pizzuti, Antonio, Marino, Bruno, Digilio, Maria Cristina, Mazza, Tommaso, Dallapiccola, Bruno, Ruiz-Pérez, Victor L., Tartaglia, Marco, Castori, Marco, Luca, Alessandro De, Ministerio de Sanidad (España), Sapienza Università di Roma, Piceci-Sparascio, Francesca, Micale, Lucía, Torres, Bárbara, Guida, Valentina, Consoli, Federica, Torrente, Isabella, Onori, Annamaria, Frustaci, Emanuela, D'Asdia, Maria Cecilia, Petrizzelli, Francesco, Bernardini, Laura, Mancini, Cecilia, Soli, Fiorenza, Cocciadiferro, Darío, Guadagnolo, Daniele, Mastromoro, Gioia, Putotto, Carolina, Fontana, Franco, Brunetti-Pierri, Nicola, Novelli, Antonio, Pizzuti, Antonio, Marino, Bruno, Digilio, Maria Cristina, Mazza, Tommaso, Dallapiccola, Bruno, Ruiz-Pérez, Victor L., Tartaglia, Marco, Castori, Marco, and Luca, Alessandro De

Abstract

Deleterious variants of DYNC2H1 gene are associated with a wide spectrum of skeletal ciliopathies (SC). We used targeted parallel sequencing to analyze 25 molecularly unsolved families with different SCs. Deleterious DYNC2H1 variants were found in six sporadic patients and two monozygotic (MZ) twins. Clinical diagnoses included short rib-polydactyly type 3 in two cases, and asphyxiating thoracic dystrophy (ATD) in one case. Remarkably, clinical diagnosis fitted with EvC, mixed ATD/EvC and short rib-polydactyly/EvC phenotypes in three sporadic patients and the MZ twins. EvC/EvC-like features always occurred in compound heterozygotes sharing a previously unreported splice site change (c.6140-5A>G) or compound heterozygotes for two missense variants. These results expand the DYNC2H1 mutational repertoire and its clinical spectrum, suggesting that EvC may be occasionally caused by DYNC2H1 variants presumably acting as hypomorphic alleles.

Published
2023

9. Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants

Author

Fusco, Carmela, primary, Nardella, Grazia, additional, Fischetto, Rita, additional, Copetti, Massimiliano, additional, Petracca, Antonio, additional, Annunziata, Francesca, additional, Augello, Bartolomeo, additional, D’Asdia, Maria Cecilia, additional, Petrucci, Simona, additional, Mattina, Teresa, additional, Rella, Annalisa, additional, Cassina, Matteo, additional, Bengala, Mario, additional, Biagini, Tommaso, additional, Causio, Francesco Andrea, additional, Caldarini, Camilla, additional, Brancati, Francesco, additional, De Luca, Alessandro, additional, Guarnieri, Vito, additional, Micale, Lucia, additional, D’Agruma, Leonardo, additional, and Castori, Marco, additional

Published
2019
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10. Heterozygosity for loss-of-function variants in LZTR1is associated with isolated multiple café-au-laitmacules

Author

Mastromoro, Gioia, Santoro, Claudia, Motta, Marialetizia, Sorrentino, Ugo, Daniele, Paola, Peduto, Cristina, Petrizzelli, Francesco, Tripodi, Martina, Pinna, Valentina, Zanobio, Mariateresa, Rotundo, Giovannina, Bellacchio, Emanuele, Lepri, Francesca, Farina, Antonella, D’Asdia, Maria Cecilia, Piceci-Sparascio, Francesca, Biagini, Tommaso, Petracca, Antonio, Castori, Marco, Melis, Daniela, Accadia, Maria, Traficante, Giovanna, Tarani, Luigi, Fontana, Paolo, Sirchia, Fabio, Paparella, Roberto, Currò, Aurora, Benedicenti, Francesco, Scala, Iris, Dentici, Maria Lisa, Leoni, Chiara, Trevisan, Valentina, Cecconi, Antonella, Giustini, Sandra, Pizzuti, Antonio, Salviati, Leonardo, Novelli, Antonio, Zampino, Giuseppe, Zenker, Martin, Genuardi, Maurizio, Digilio, Maria Cristina, Papi, Laura, Perrotta, Silverio, Nigro, Vincenzo, Castellanos, Elisabeth, Mazza, Tommaso, Trevisson, Eva, Tartaglia, Marco, Piluso, Giulio, and De Luca, Alessandro

Abstract

Pathogenic LZTR1variants cause schwannomatosis and dominant/recessive Noonan syndrome (NS). We aim to establish an association between heterozygous loss-of-function (LoF) LZTR1alleles and isolated multiple café-au-laitmacules (CaLMs).

Published
2024
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12. Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease.

Author

Pinna, Valentina, Daniele, Paola, Calcagni, Giulio, Mariniello, Lucio, Criscione, Roberta, Giardina, Chiara, Lepri, Francesca Romana, Hozhabri, Hossein, Alberico, Angela, Cavone, Stefania, Morella, Annunziata Tina, Mandile, Roberta, Annunziata, Francesca, Di Giosaffatte, Niccolò, D'Asdia, Maria Cecilia, Versacci, Paolo, Capolino, Rossella, Strisciuglio, Pietro, Giustini, Sandra, and Melis, Daniela

Subjects
CONGENITAL heart disease, PULMONARY valve, NEUROFIBROMATOSIS 1, MOLECULAR spectra, MITRAL valve, NOONAN syndrome
Abstract

The aim of this study was to assess the prevalence and type of congenital heart disease (CHD) and the associated mutation spectrum in a large series of patients with neurofibromatosis type 1 (NF1), and correlate the mutation type with the presence and subgroups of cardiac defects. The study cohort included 493 individuals with molecularly confirmed diagnosis of NF1 for whom cardiac evaluation data were available. CHD was reported in 62/493 (12.6%) patients. Among these patients, 23/62 (37.1%) had pulmonary valve stenosis/dysplasia, 20/62 (32.3%) had mitral valve anomalies, and 10/62 (16.1%) had septal defects. Other defects occurred as rare events. In this NF1 subcohort, three subjects carried a whole-gene deletion, while 59 were heterozygous for an intragenic mutation. A significantly increased prevalence of non-truncating intragenic mutations was either observed in individuals with CHD (22/59, 37.3%) or with pulmonary valve stenosis (13/20, 65.0%), when compared to individuals without CHD (89/420, 21.2%) (p = 0.038) or pulmonary valve stenosis (98/459, 21.4%) (p = 0.002). Similarly, patients with non-truncating NF1 mutations displayed two- and six-fold higher risk of developing CHD (odds ratio = 1.9713, 95% confidence interval (CI): 1.1162–3.4814, p = 0.0193) and pulmonary valve stenosis (odds ratio = 6.8411, 95% CI: 2.6574–17.6114, p = 0.0001), respectively. Noteworthy, all but one patient (19/20, 95.0%) with pulmonary valve stenosis, and 18/35 (51.4%) patients with other CHDs displayed Noonan syndrome (NS)-like features. Present data confirm the significant frequency of CHD in patients with NF1, and provide further evidence for a higher than expected prevalence of NF1 in-frame variants and NS-like characteristics in NF1 patients with CHD, particularly with pulmonary valve stenosis. [ABSTRACT FROM AUTHOR]

Published
2019
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13. Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome

Author

Francesca Piceci-Sparascio, Lucia Micale, Barbara Torres, Valentina Guida, Federica Consoli, Isabella Torrente, Annamaria Onori, Emanuela Frustaci, Maria Cecilia D’Asdia, Francesco Petrizzelli, Laura Bernardini, Cecilia Mancini, Fiorenza Soli, Dario Cocciadiferro, Daniele Guadagnolo, Gioia Mastromoro, Carolina Putotto, Franco Fontana, Nicola Brunetti-Pierri, Antonio Novelli, Antonio Pizzuti, Bruno Marino, Maria Cristina Digilio, Tommaso Mazza, Bruno Dallapiccola, Victor Luis Ruiz-Perez, Marco Tartaglia, Marco Castori, Alessandro De Luca, Piceci-Sparascio, Francesca, Micale, Lucia, Torres, Barbara, Guida, Valentina, Consoli, Federica, Torrente, Isabella, Onori, Annamaria, Frustaci, Emanuela, D'Asdia, Maria Cecilia, Petrizzelli, Francesco, Bernardini, Laura, Mancini, Cecilia, Soli, Fiorenza, Cocciadiferro, Dario, Guadagnolo, Daniele, Mastromoro, Gioia, Putotto, Carolina, Fontana, Franco, Brunetti-Pierri, Nicola, Novelli, Antonio, Pizzuti, Antonio, Marino, Bruno, Digilio, Maria Cristina, Mazza, Tommaso, Dallapiccola, Bruno, Ruiz-Perez, Victor Lui, Tartaglia, Marco, Castori, Marco, and De Luca, Alessandro

Subjects
Genetics, Genetics (clinical)
Abstract

Deleterious variants of DYNC2H1 gene are associated with a wide spectrum of skeletal ciliopathies (SC). We used targeted parallel sequencing to analyze 25 molecularly unsolved families with different SCs. Deleterious DYNC2H1 variants were found in six sporadic patients and two monozygotic (MZ) twins. Clinical diagnoses included short rib-polydactyly type 3 in two cases, and asphyxiating thoracic dystrophy (ATD) in one case. Remarkably, clinical diagnosis fitted with EvC, mixed ATD/EvC and short rib-polydactyly/EvC phenotypes in three sporadic patients and the MZ twins. EvC/EvC-like features always occurred in compound heterozygotes sharing a previously unreported splice site change (c.6140-5A>G) or compound heterozygotes for two missense variants. These results expand the DYNC2H1 mutational repertoire and its clinical spectrum, suggesting that EvC may be occasionally caused by DYNC2H1 variants presumably acting as hypomorphic alleles.

Published
2023

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