M Priolo

Affiliations

Operative Unit of Medical Genetics and Laboratory of Genetics, AORN A.Cardarelli, Via Cardarelli 9, 80131, Naples, Italy. manuela.priolo@aocardarelli.it.

ORCID: http://orcid.org/0000-0002-4815-9550

Publications (18)

Variants in nuclear factor I genes influence growth and development.

American journal of medical genetics. Part C, Seminars in medical genetics

Avec: Martin Zenker , Jens Bunt , Ina Schanze , Denny Schanze , Michael Piper , Manuela Priolo , Erica H Gerkes , Richard M Gronostajski , Linda J Richards , Julie Vogt , Marja W Wessels , Raoul C Hennekam

Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying

Genes

Avec: Marco Ferilli , Andrea Ciolfi , Lucia Pedace , Marcello Niceta , Francesca Clementina Radio , Simone Pizzi , Evelina Miele , Camilla Cappelletti , Cecilia Mancini , Tiziana Galluccio , Marco Andreani , Maria Iascone , Luigi Chiriatti , Antonio Novelli , Alessia Micalizzi , Marta Matraxia , Lucia Menale , Flavio Faletra , Paolo Prontera , Alba Pilotta , Maria Francesca Bedeschi , Rossella Capolino , Anwar Baban , Marco Seri , Corrado Mammì , Giuseppe Zampino , Maria Cristina Digilio , Bruno Dallapiccola , Manuela Priolo , Marco Tartaglia

The Right to Ask, the Need to Answer-When Patients Meet Research: How to Cope with Time.

International journal of environmental research and public health

Avec: Manuela Priolo , Marco Tartaglia

Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.

Human genetics

Avec: Maria Pia Leone , Silvia Morlino , Grazia Nardella , Riccardo Pracella , Daniela Giachino , Luca Celli , Demetrio Baldo , Licia Turolla , Maria Piccione , Emanuela Salzano , Martina Busè , Patrizia Lastella , Marcella Zollino , Rachele Cantone , Enrico Grosso , Andrea Zonta , Barbara Pasini , Carmelo Piscopo , Ilaria De Maggio , Manuela Priolo , Corrado Mammi , Thomas Foiadelli , Chiara Trabatti , Salvatore Savasta , Achille Iolascon , Alessandro Ferraris , Valentina Lodato , Niccolò Di Giosaffatte , Silvia Majore , Angelo Selicorni , Antonio Petracca , Carmela Fusco , Mauro Celli , Vito Guarnieri , Lucia Micale , Marco Castori

Natural history in Malan syndrome: survey of 28 adults and literature review.

Orphanet journal of rare diseases

Avec: T N Huynh , C G Delagrammatikas , L Chiriatti , A Panfili , K Ventarola , L A Menke , M Tartaglia , S A Huisman , M Priolo

Maturity Onset Diabetes of the Young is Not Necessarily Associated with Autosomal Inheritance: Case Description of a De Novo HFN1A Mutation.

Diabetes therapy : research, treatment and education of diabetes and related disorders

Avec: Giuseppina Salzano , Stefano Passanisi , Corrado Mammì , Manuela Priolo , Letizia Pintomalli , Lucia Caminiti , Maria F Messina , Giovanni B Pajno , Fortunato Lombardo

Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.

Human molecular genetics

Avec: Marialetizia Motta , Maja Solman , Adeline A Bonnard , Alma Kuechler , Francesca Pantaleoni , Manuela Priolo , Balasubramanian Chandramouli , Simona Coppola , Simone Pizzi , Erika Zara , Marco Ferilli , Hülya Kayserili , Roberta Onesimo , Chiara Leoni , Julia Brinkmann , Yoann Vial , Susanne B Kamphausen , Cécile Thomas-Teinturier , Anne Guimier , Viviana Cordeddu , Laura Mazzanti , Giuseppe Zampino , Giovanni Chillemi , Martin Zenker , Hélène Cavé , Jeroen den Hertog , Marco Tartaglia

Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic Variants.

Genes

Avec: Manuela Priolo , Cecilia Mancini , Simone Pizzi , Luigi Chiriatti , Francesca Clementina Radio , Viviana Cordeddu , Letizia Pintomalli , Corrado Mammì , Bruno Dallapiccola , Marco Tartaglia

Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome.

Journal of clinical medicine

Avec: Paolo Alfieri , Marina Macchiaiolo , Martina Collotta , Federica Alice Maria Montanaro , Cristina Caciolo , Francesca Cumbo , Paolo Galassi , Filippo Maria Panfili , Fabiana Cortellessa , Marcella Zollino , Maria Accadia , Marco Seri , Marco Tartaglia , Andrea Bartuli , Corrado Mammì , Stefano Vicari , Manuela Priolo

Inside the Noonan "universe": Literature review on growth, GH/IGF axis and rhGH treatment: Facts and concerns.

Frontiers in endocrinology

Avec: Stefano Stagi , Vittorio Ferrari , Marta Ferrari , Manuela Priolo , Marco Tartaglia

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

European journal of human genetics : EJHG

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

Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes.

Human molecular genetics

Avec: Elisabetta Flex , Shahad Albadri , Francesca Clementina Radio , Serena Cecchetti , Antonella Lauri , Manuela Priolo , Marta Kissopoulos , Giovanna Carpentieri , Giulia Fasano , Martina Venditti , Valentina Magliocca , Emanuele Bellacchio , Carrie L Welch , Paolo C Colombo , Stephanie M Kochav , Richard Chang , Rebekah Barrick , Marina Trivisano , Alessia Micalizzi , Rossella Borghi , Elena Messina , Cecilia Mancini , Simone Pizzi , Flavia De Santis , Marion Rosello , Nicola Specchio , Claudia Compagnucci , Kirsty McWalter , Wendy K Chung , Filippo Del Bene , Marco Tartaglia

Natural history of MRAS-related Noonan syndrome: Evidence of mild adult-onset left ventricular hypertrophy and neuropsychiatric features.

American journal of medical genetics. Part C, Seminars in medical genetics

Avec: Manuela Priolo , Cecilia Mancini , Francesca Clementina Radio , Luigi Chiriatti , Andrea Ciolfi , Camilla Cappelletti , Viviana Cordeddu , Letizia Pintomalli , Alfredo Brusco , Corrado Mammi , Marco Tartaglia

The Target Therapy Hyperbole: "KRAS (p.G12C)"-The Simplification of a Complex Biological Problem.

Cancers

Avec: Massimiliano Chetta , Anna Basile , Marina Tarsitano , Maria Rivieccio , Maria Oro , Nazzareno Capitanio , Nenad Bukvic , Manuela Priolo , Alessandra Rosati

Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.

Journal of intellectual disability research : JIDR

Avec: P A Mulder , I D C van Balkom , A M Landlust , M Priolo , L A Menke , I H Acero , F S Alkuraya , P Arias , L Bernardini , E K Bijlsma , T Cole , C Coubes , I Dapia , S Davies , N Di Donato , N H Elcioglu , J A Fahrner , A Foster , N G González , I Huber , M Iascone , A-S Kaiser , A Kamath , K Kooblall , P Lapunzina , J Liebelt , S A Lynch , S M Maas , C Mammì , I B Mathijssen , S McKee , G M Mirzaa , T Montgomery , D Neubauer , T E Neumann , L Pintomalli , M A Pisanti , A S Plomp , S Price , C Salter , F Santos-Simarro , P Sarda , D Schanze , M Segovia , C Shaw-Smith , S Smithson , M Suri , K Tatton-Brown , J Tenorio , R V Thakker , R M Valdez , A Van Haeringen , J M Van Hagen , M Zenker , M Zollino , W W Dunn , S Piening , R C Hennekam

SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction.

Clinical genetics

Avec: Manuela Priolo , Valentina Palermo , Francesca Aiello , Andrea Ciolfi , Luca Pannone , Valentina Muto , Marialetizia Motta , Cecilia Mancini , Francesca Clementina Radio , Marcello Niceta , Chiara Leoni , Letizia Pintomalli , Rosalba Carrozzo , Giuseppe Rajola , Corrado Mammì , Giuseppe Zampino , Simone Martinelli , Bruno Dallapiccola , Pietro Pichierri , Marco Tartaglia

DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicism.

European journal of human genetics : EJHG

Avec: Marcello Niceta , Andrea Ciolfi , Marco Ferilli , Lucia Pedace , Camilla Cappelletti , Claudia Nardini , Mathis Hildonen , Luigi Chiriatti , Evelina Miele , Maria Lisa Dentici , Maria Gnazzo , Claudia Cesario , Elisa Pisaneschi , Anwar Baban , Antonio Novelli , Silvia Maitz , Angelo Selicorni , Gabriella Maria Squeo , Giuseppe Merla , Bruno Dallapiccola , Zeynep Tumer , Maria Cristina Digilio , Manuela Priolo , Marco Tartaglia

Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.

Clinical genetics

Avec: Marcello Niceta , Simone Pizzi , Francesca Inzana , Angela Peron , Somayeh Bakhtiari , Mathilde Nizon , Jonathan Levy , Cecilia Mancini , Benjamin Cogné , Francesca Clementina Radio , Emanuele Agolini , Dario Cocciadiferro , Antonio Novelli , Mustafa A Salih , Maria Paola Recalcati , Rosangela Arancio , Marianne Besnard , Anne-Claude Tabet , Michael C Kruer , Manuela Priolo , Bruno Dallapiccola , Marco Tartaglia

Réseau de co-auteurs

Manuela Priolo 16 collaborations

Marco Tartaglia 12 collaborations

Cecilia Mancini 7 collaborations

Francesca Clementina Radio 6 collaborations

Simone Pizzi 6 collaborations

Bruno Dallapiccola 6 collaborations

Andrea Ciolfi 5 collaborations

Marcello Niceta 5 collaborations

Corrado Mammì 5 collaborations

Marco Ferilli 4 collaborations

Camilla Cappelletti 4 collaborations

Luigi Chiriatti 4 collaborations

Antonio Novelli 4 collaborations

Giuseppe Zampino 4 collaborations

Letizia Pintomalli 4 collaborations

Viviana Cordeddu 4 collaborations

Martin Zenker 3 collaborations

Maria Cristina Digilio 3 collaborations

Chiara Leoni 3 collaborations

Lucia Pedace 2 collaborations

Evelina Miele 2 collaborations

Alessia Micalizzi 2 collaborations

Anwar Baban 2 collaborations

Marco Seri 2 collaborations

Marcella Zollino 2 collaborations

Corrado Mammi 2 collaborations

Angelo Selicorni 2 collaborations

L A Menke 2 collaborations

Marialetizia Motta 2 collaborations

Maria Lisa Dentici 2 collaborations

Jens Bunt 1 collaboration

Ina Schanze 1 collaboration

Denny Schanze 1 collaboration

Michael Piper 1 collaboration

Erica H Gerkes 1 collaboration

Richard M Gronostajski 1 collaboration

Linda J Richards 1 collaboration

Julie Vogt 1 collaboration

Marja W Wessels 1 collaboration

Raoul C Hennekam 1 collaboration

Tiziana Galluccio 1 collaboration

Marco Andreani 1 collaboration

Maria Iascone 1 collaboration

Marta Matraxia 1 collaboration

Lucia Menale 1 collaboration

Flavio Faletra 1 collaboration

Paolo Prontera 1 collaboration

Alba Pilotta 1 collaboration

Maria Francesca Bedeschi 1 collaboration

Rossella Capolino 1 collaboration

Maria Pia Leone 1 collaboration

Silvia Morlino 1 collaboration

Grazia Nardella 1 collaboration

Riccardo Pracella 1 collaboration

Daniela Giachino 1 collaboration

Luca Celli 1 collaboration

Demetrio Baldo 1 collaboration

Licia Turolla 1 collaboration

Maria Piccione 1 collaboration

Emanuela Salzano 1 collaboration

Martina Busè 1 collaboration

Patrizia Lastella 1 collaboration

Rachele Cantone 1 collaboration

Enrico Grosso 1 collaboration

Andrea Zonta 1 collaboration

Barbara Pasini 1 collaboration

Carmelo Piscopo 1 collaboration

Ilaria De Maggio 1 collaboration

Thomas Foiadelli 1 collaboration

Chiara Trabatti 1 collaboration

Salvatore Savasta 1 collaboration

Achille Iolascon 1 collaboration

Alessandro Ferraris 1 collaboration

Valentina Lodato 1 collaboration

Niccolò Di Giosaffatte 1 collaboration

Silvia Majore 1 collaboration

Antonio Petracca 1 collaboration

Carmela Fusco 1 collaboration

Mauro Celli 1 collaboration

Vito Guarnieri 1 collaboration

Lucia Micale 1 collaboration

Marco Castori 1 collaboration

T N Huynh 1 collaboration

C G Delagrammatikas 1 collaboration

L Chiriatti 1 collaboration

A Panfili 1 collaboration

K Ventarola 1 collaboration

M Tartaglia 1 collaboration

S A Huisman 1 collaboration

Giuseppina Salzano 1 collaboration

Stefano Passanisi 1 collaboration

Lucia Caminiti 1 collaboration

Maria F Messina 1 collaboration

Giovanni B Pajno 1 collaboration

Fortunato Lombardo 1 collaboration

Maja Solman 1 collaboration

Adeline A Bonnard 1 collaboration

Alma Kuechler 1 collaboration

Francesca Pantaleoni 1 collaboration

Balasubramanian Chandramouli 1 collaboration

Simona Coppola 1 collaboration

Erika Zara 1 collaboration

Hülya Kayserili 1 collaboration

Roberta Onesimo 1 collaboration

Julia Brinkmann 1 collaboration

Yoann Vial 1 collaboration

Susanne B Kamphausen 1 collaboration

Cécile Thomas-Teinturier 1 collaboration

Anne Guimier 1 collaboration

Laura Mazzanti 1 collaboration

Giovanni Chillemi 1 collaboration

Hélène Cavé 1 collaboration

Jeroen den Hertog 1 collaboration

Paolo Alfieri 1 collaboration

Marina Macchiaiolo 1 collaboration

Martina Collotta 1 collaboration

Federica Alice Maria Montanaro 1 collaboration

Cristina Caciolo 1 collaboration

Francesca Cumbo 1 collaboration

Paolo Galassi 1 collaboration

Filippo Maria Panfili 1 collaboration

Fabiana Cortellessa 1 collaboration

Maria Accadia 1 collaboration

Andrea Bartuli 1 collaboration

Stefano Vicari 1 collaboration

Stefano Stagi 1 collaboration

Vittorio Ferrari 1 collaboration

Marta Ferrari 1 collaboration

Francesca Romana Lepri 1 collaboration

Adeline Alice Bonnard 1 collaboration

Cesare Rossi 1 collaboration

Mafalda Mucciolo 1 collaboration

Vito Luigi Colona 1 collaboration

Christine Fauth 1 collaboration

Melissa Bellini 1 collaboration

Giacomo Biasucci 1 collaboration

Lorenzo Sinibaldi 1 collaboration

Silvana Briuglia 1 collaboration

Andrea Gazzin 1 collaboration

Diana Carli 1 collaboration

Luigi Memo 1 collaboration

Eva Trevisson 1 collaboration

Concetta Schiavariello 1 collaboration

Maria Luca 1 collaboration

Caroline Michot 1 collaboration

Anne Sweertvaegher 1 collaboration

David Germanaud 1 collaboration

Emanuela Scarano 1 collaboration

Alessandro De Luca 1 collaboration

Alessandro Mussa 1 collaboration

Helene Cavé 1 collaboration

Elisabetta Flex 1 collaboration

Shahad Albadri 1 collaboration

Serena Cecchetti 1 collaboration

Antonella Lauri 1 collaboration

Marta Kissopoulos 1 collaboration

Giovanna Carpentieri 1 collaboration

Giulia Fasano 1 collaboration

Martina Venditti 1 collaboration

Valentina Magliocca 1 collaboration

Emanuele Bellacchio 1 collaboration

Carrie L Welch 1 collaboration

Paolo C Colombo 1 collaboration

Stephanie M Kochav 1 collaboration

Richard Chang 1 collaboration

Rebekah Barrick 1 collaboration

Marina Trivisano 1 collaboration

Rossella Borghi 1 collaboration

Elena Messina 1 collaboration

Flavia De Santis 1 collaboration

Marion Rosello 1 collaboration

Nicola Specchio 1 collaboration

Claudia Compagnucci 1 collaboration

Kirsty McWalter 1 collaboration

Wendy K Chung 1 collaboration

Filippo Del Bene 1 collaboration

Alfredo Brusco 1 collaboration

Massimiliano Chetta 1 collaboration

Anna Basile 1 collaboration

Marina Tarsitano 1 collaboration

Maria Rivieccio 1 collaboration

Maria Oro 1 collaboration

Nazzareno Capitanio 1 collaboration

Nenad Bukvic 1 collaboration

Alessandra Rosati 1 collaboration

P A Mulder 1 collaboration

I D C van Balkom 1 collaboration

A M Landlust 1 collaboration

I H Acero 1 collaboration

F S Alkuraya 1 collaboration

P Arias 1 collaboration

L Bernardini 1 collaboration

E K Bijlsma 1 collaboration

T Cole 1 collaboration

C Coubes 1 collaboration

I Dapia 1 collaboration

S Davies 1 collaboration

N Di Donato 1 collaboration

N H Elcioglu 1 collaboration

J A Fahrner 1 collaboration

A Foster 1 collaboration

N G González 1 collaboration

I Huber 1 collaboration

M Iascone 1 collaboration

A-S Kaiser 1 collaboration

A Kamath 1 collaboration

K Kooblall 1 collaboration

P Lapunzina 1 collaboration

J Liebelt 1 collaboration

S A Lynch 1 collaboration

S M Maas 1 collaboration

C Mammì 1 collaboration

I B Mathijssen 1 collaboration

S McKee 1 collaboration

G M Mirzaa 1 collaboration

T Montgomery 1 collaboration

D Neubauer 1 collaboration

T E Neumann 1 collaboration

L Pintomalli 1 collaboration

M A Pisanti 1 collaboration

A S Plomp 1 collaboration

S Price 1 collaboration

C Salter 1 collaboration

F Santos-Simarro 1 collaboration

P Sarda 1 collaboration

D Schanze 1 collaboration

M Segovia 1 collaboration

C Shaw-Smith 1 collaboration

S Smithson 1 collaboration

M Suri 1 collaboration

K Tatton-Brown 1 collaboration

J Tenorio 1 collaboration

R V Thakker 1 collaboration

R M Valdez 1 collaboration

A Van Haeringen 1 collaboration

J M Van Hagen 1 collaboration

M Zenker 1 collaboration

M Zollino 1 collaboration

W W Dunn 1 collaboration

S Piening 1 collaboration

R C Hennekam 1 collaboration

Valentina Palermo 1 collaboration

Francesca Aiello 1 collaboration

Luca Pannone 1 collaboration

Valentina Muto 1 collaboration

Rosalba Carrozzo 1 collaboration

Giuseppe Rajola 1 collaboration

Simone Martinelli 1 collaboration

Pietro Pichierri 1 collaboration

Claudia Nardini 1 collaboration

Mathis Hildonen 1 collaboration

Maria Gnazzo 1 collaboration

Claudia Cesario 1 collaboration

Elisa Pisaneschi 1 collaboration

Silvia Maitz 1 collaboration

Gabriella Maria Squeo 1 collaboration

Giuseppe Merla 1 collaboration

Zeynep Tumer 1 collaboration

Francesca Inzana 1 collaboration

Angela Peron 1 collaboration

Somayeh Bakhtiari 1 collaboration

Mathilde Nizon 1 collaboration

Jonathan Levy 1 collaboration

Benjamin Cogné 1 collaboration

Emanuele Agolini 1 collaboration

Dario Cocciadiferro 1 collaboration

Mustafa A Salih 1 collaboration

Maria Paola Recalcati 1 collaboration

Rosangela Arancio 1 collaboration

Marianne Besnard 1 collaboration

Anne-Claude Tabet 1 collaboration

Michael C Kruer 1 collaboration