Maria Cecilia D'Asdia

Affiliations

UOS Diagnosi Genetica Molecolare, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (FG), Italy. m.dasdia@css-mendel.it.

Publications (8)

Prevalence, Type, and Molecular Spectrum of

Genes

Avec: Valentina Pinna , Paola Daniele , Giulio Calcagni , Lucio Mariniello , Roberta Criscione , Chiara Giardina , Francesca Romana Lepri , Hossein Hozhabri , Angela Alberico , Stefania Cavone , Annunziata Tina Morella , Roberta Mandile , Francesca Annunziata , Niccolò Di Giosaffatte , Maria Cecilia D'Asdia , Paolo Versacci , Rossella Capolino , Pietro Strisciuglio , Sandra Giustini , Daniela Melis , Maria Cristina Digilio , Marco Tartaglia , Bruno Marino , Alessandro De Luca

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

Genetics in medicine : official journal of the American College of Medical Genetics

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

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

Human molecular genetics

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

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

European journal of human genetics : EJHG

Avec: 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

Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene.

Human mutation

Avec: Francesca Piceci-Sparascio , Adrian Palencia-Campos , Patricia Soto-Bielicka , Angela D'Anzi , Valentina Guida , Jessica Rosati , Jose A Caparros-Martin , Isabella Torrente , M Cecilia D'Asdia , Paolo Versacci , Silvana Briuglia , Pablo Lapunzina , Marco Tartaglia , Bruno Marino , M Cristina Digilio , Victor L Ruiz-Perez , Alessandro De Luca

A dangerous food binge: a case report of hypokalemic periodic paralysis and review of current literature.

Italian journal of pediatrics

Avec: Maria Carolina Colucci , Marica Fabiana Triolo , Simona Petrucci , Flaminia Pugnaloni , Massimiliano Corsino , Melania Evangelisti , Maria Cecilia D'Asdia , Giovanni Di Nardo , Matteo Garibaldi , Gianluca Terrin , Pasquale Parisi

A novel ANO3 variant in two siblings with different phenotypes.

Parkinsonism & related disorders

Avec: Marcello Esposito , Assunta Trinchillo , Francesca Piceci-Sparascio , Maria Cecilia D'Asdia , Federica Consoli , Alessandro De Luca

Novel Genetic Microvascular Dysplasia Causing Hypoperfusion of Cardiac, Renal, and Cerebral Circulation.

Journal of clinical medicine

Avec: Andrea Frustaci , Rosario Cianci , Romina Verardo , Bruna Cerbelli , Maria Cecilia D'Asdia , Alessandro De Luca

Réseau de co-auteurs

Alessandro De Luca 7 collaborations

Marco Tartaglia 4 collaborations

Francesca Piceci-Sparascio 4 collaborations

Maria Cristina Digilio 3 collaborations

Bruno Marino 3 collaborations

Marco Castori 3 collaborations

Valentina Pinna 2 collaborations

Paola Daniele 2 collaborations

Francesca Annunziata 2 collaborations

Paolo Versacci 2 collaborations

Sandra Giustini 2 collaborations

Daniela Melis 2 collaborations

Gioia Mastromoro 2 collaborations

Francesco Petrizzelli 2 collaborations

Tommaso Biagini 2 collaborations

Antonio Petracca 2 collaborations

Antonio Pizzuti 2 collaborations

Antonio Novelli 2 collaborations

Tommaso Mazza 2 collaborations

Simona Petrucci 2 collaborations

Lucia Micale 2 collaborations

Valentina Guida 2 collaborations

Federica Consoli 2 collaborations

Isabella Torrente 2 collaborations

Giulio Calcagni 1 collaboration

Lucio Mariniello 1 collaboration

Roberta Criscione 1 collaboration

Chiara Giardina 1 collaboration

Francesca Romana Lepri 1 collaboration

Hossein Hozhabri 1 collaboration

Angela Alberico 1 collaboration

Stefania Cavone 1 collaboration

Annunziata Tina Morella 1 collaboration

Roberta Mandile 1 collaboration

Niccolò Di Giosaffatte 1 collaboration

Rossella Capolino 1 collaboration

Pietro Strisciuglio 1 collaboration

Claudia Santoro 1 collaboration

Marialetizia Motta 1 collaboration

Ugo Sorrentino 1 collaboration

Cristina Peduto 1 collaboration

Martina Tripodi 1 collaboration

Mariateresa Zanobio 1 collaboration

Giovannina Rotundo 1 collaboration

Emanuele Bellacchio 1 collaboration

Francesca Lepri 1 collaboration

Antonella Farina 1 collaboration

Maria Accadia 1 collaboration

Giovanna Traficante 1 collaboration

Luigi Tarani 1 collaboration

Paolo Fontana 1 collaboration

Fabio Sirchia 1 collaboration

Roberto Paparella 1 collaboration

Aurora Currò 1 collaboration

Francesco Benedicenti 1 collaboration

Iris Scala 1 collaboration

Maria Lisa Dentici 1 collaboration

Chiara Leoni 1 collaboration

Valentina Trevisan 1 collaboration

Antonella Cecconi 1 collaboration

Leonardo Salviati 1 collaboration

Giuseppe Zampino 1 collaboration

Martin Zenker 1 collaboration

Maurizio Genuardi 1 collaboration

Laura Papi 1 collaboration

Silverio Perrotta 1 collaboration

Vincenzo Nigro 1 collaboration

Elisabeth Castellanos 1 collaboration

Eva Trevisson 1 collaboration

Giulio Piluso 1 collaboration

Carmela Fusco 1 collaboration

Grazia Nardella 1 collaboration

Rita Fischetto 1 collaboration

Massimiliano Copetti 1 collaboration

Bartolomeo Augello 1 collaboration

Teresa Mattina 1 collaboration

Annalisa Rella 1 collaboration

Matteo Cassina 1 collaboration

Mario Bengala 1 collaboration

Francesco Andrea Causio 1 collaboration

Camilla Caldarini 1 collaboration

Francesco Brancati 1 collaboration

Vito Guarnieri 1 collaboration

Leonardo D'Agruma 1 collaboration

Barbara Torres 1 collaboration

Annamaria Onori 1 collaboration

Emanuela Frustaci 1 collaboration

Laura Bernardini 1 collaboration

Cecilia Mancini 1 collaboration

Fiorenza Soli 1 collaboration

Dario Cocciadiferro 1 collaboration

Daniele Guadagnolo 1 collaboration

Carolina Putotto 1 collaboration

Franco Fontana 1 collaboration

Nicola Brunetti-Pierri 1 collaboration

Bruno Dallapiccola 1 collaboration

Victor Luis Ruiz-Perez 1 collaboration

Adrian Palencia-Campos 1 collaboration

Patricia Soto-Bielicka 1 collaboration

Angela D'Anzi 1 collaboration

Jessica Rosati 1 collaboration

Jose A Caparros-Martin 1 collaboration

M Cecilia D'Asdia 1 collaboration

Silvana Briuglia 1 collaboration

Pablo Lapunzina 1 collaboration

M Cristina Digilio 1 collaboration

Victor L Ruiz-Perez 1 collaboration

Maria Carolina Colucci 1 collaboration

Marica Fabiana Triolo 1 collaboration

Flaminia Pugnaloni 1 collaboration

Massimiliano Corsino 1 collaboration

Melania Evangelisti 1 collaboration

Giovanni Di Nardo 1 collaboration

Matteo Garibaldi 1 collaboration

Gianluca Terrin 1 collaboration

Pasquale Parisi 1 collaboration

Marcello Esposito 1 collaboration

Assunta Trinchillo 1 collaboration

Andrea Frustaci 1 collaboration

Rosario Cianci 1 collaboration

Romina Verardo 1 collaboration

Bruna Cerbelli 1 collaboration