Daniela Melis

Affiliations

Department of Translational Medical Science, Section of Pediatrics, Federico II University, Naples, Italy.

Publications (6)

Mutation update for the SATB2 gene.

Human mutation

Avec: Yuri A Zarate , Katherine A Bosanko , Aisling R Caffrey , Jonathan A Bernstein , Donna M Martin , Marc S Williams , Elizabeth M Berry-Kravis , Paul R Mark , Melanie A Manning , Vikas Bhambhani , Marcelo Vargas , Andrea H Seeley , Juvianee I Estrada-Veras , Marieke F van Dooren , Maria Schwab , Adeline Vanderver , Daniela Melis , Adnan Alsadah , Laurie Sadler , Hilde Van Esch , Bert Callewaert , Ann Oostra , Jane Maclean , Maria Lisa Dentici , Valeria Orlando , Mark Lipson , Steven P Sparagana , Timothy J Maarup , Suzanne Im Alsters , Ariel Brautbar , Eliana Kovitch , Sakkubai Naidu , Melissa Lees , Douglas M Smith , Lesley Turner , Víctor Raggio , Lucía Spangenberg , Sixto Garcia-Miñaúr , Elizabeth R Roeder , Rebecca O Littlejohn , Dorothy Grange , Jean Pfotenhauer , Marilyn C Jones , Meena Balasubramanian , Antonio Martinez-Monseny , Lot Snijders Blok , Ralitza Gavrilova , Jennifer L Fish

Primrose syndrome: Characterization of the phenotype in 42 patients.

Clinical genetics

Avec: Daniela Melis , Daniel Carvalho , Tina Barbaro-Dieber , Alberto J Espay , Michael J Gambello , Blanca Gener , Erica Gerkes , Marrit M Hitzert , Hanne B Hove , Sandra Jansen , Petr E Jira , Katherine Lachlan , Leonie A Menke , Vinodh Narayanan , Damara Ortiz , Eline Overwater , Renata Posmyk , Keri Ramsey , Alessandro Rossi , Renata Lazari Sandoval , Constance Stumpel , Kyra E Stuurman , Viviana Cordeddu , Peter Turnpenny , Pietro Strisciuglio , Marco Tartaglia , Sheela Unger , Todd Waters , Clare Turnbull , Raoul C Hennekam

Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome.

Clinical genetics

Avec: Viviana Cordeddu , Erica L Macke , Francesca Clementina Radio , Stefania Lo Cicero , Francesca Pantaleoni , Massimo Tatti , Emanuele Bellacchio , Andrea Ciolfi , Emanuele Agolini , Alessandro Bruselles , Nicola Brunetti-Pierri , Mohnish Suri , Katherine S Josephs , Meriel McEntagart , Brendan Lanpher , Katherine C Nickels , Andrea Haworth , Laura Reed , Gerarda Cappuccio , Isabella Mammi , Jessica M Tarnowski , Antonio Novelli , Auteur inconnu , Daniela Melis , Bert Callewaert , Bruno Dallapiccola , Eric Klee , Marco Tartaglia

Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity.

Orphanet journal of rare diseases

Avec: M A Siano , V Marchetti , S Pagano , F Di Candia , M Alessio , D De Brasi , A De Luca , V Pinna , S Sestito , D Concolino , M Tartaglia , P Strisciuglio , V D'Esposito , S Cabaro , G Perruolo , P Formisano , D Melis

RASopathies and hemostatic abnormalities: key role of platelet dysfunction.

Orphanet journal of rare diseases

Avec: Francesca Di Candia , Valeria Marchetti , Ferdinando Cirillo , Alessandro Di Minno , Carmen Rosano , Stefano Pagano , Maria Anna Siano , Mariateresa Falco , Antonia Assunto , Giovanni Boccia , Gerardo Magliacane , Valentina Pinna , Alessandro De Luca , Marco Tartaglia , Giovanni Di Minno , Pietro Strisciuglio , Daniela Melis

Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.

European journal of pediatrics

Avec: Francesca Di Candia , Paolo Fontana , Pamela Paglia , Mariateresa Falco , Carmen Rosano , Carmelo Piscopo , Gerarda Cappuccio , Maria Anna Siano , Daniele De Brasi , Claudia Mandato , Ilaria De Maggio , Gabriella Maria Squeo , Matteo Della Monica , Gioacchino Scarano , Fortunato Lonardo , Pietro Strisciuglio , Giuseppe Merla , Daniela Melis

Réseau de co-auteurs

Pietro Strisciuglio 3 collaborations

Marco Tartaglia 3 collaborations

Bert Callewaert 2 collaborations

Viviana Cordeddu 2 collaborations

Gerarda Cappuccio 2 collaborations

Francesca Di Candia 2 collaborations

Carmen Rosano 2 collaborations

Maria Anna Siano 2 collaborations

Mariateresa Falco 2 collaborations

Yuri A Zarate 1 collaboration

Katherine A Bosanko 1 collaboration

Aisling R Caffrey 1 collaboration

Jonathan A Bernstein 1 collaboration

Donna M Martin 1 collaboration

Marc S Williams 1 collaboration

Elizabeth M Berry-Kravis 1 collaboration

Paul R Mark 1 collaboration

Melanie A Manning 1 collaboration

Vikas Bhambhani 1 collaboration

Marcelo Vargas 1 collaboration

Andrea H Seeley 1 collaboration

Juvianee I Estrada-Veras 1 collaboration

Marieke F van Dooren 1 collaboration

Maria Schwab 1 collaboration

Adeline Vanderver 1 collaboration

Adnan Alsadah 1 collaboration

Laurie Sadler 1 collaboration

Hilde Van Esch 1 collaboration

Ann Oostra 1 collaboration

Jane Maclean 1 collaboration

Maria Lisa Dentici 1 collaboration

Valeria Orlando 1 collaboration

Mark Lipson 1 collaboration

Steven P Sparagana 1 collaboration

Timothy J Maarup 1 collaboration

Suzanne Im Alsters 1 collaboration

Ariel Brautbar 1 collaboration

Eliana Kovitch 1 collaboration

Sakkubai Naidu 1 collaboration

Melissa Lees 1 collaboration

Douglas M Smith 1 collaboration

Lesley Turner 1 collaboration

Víctor Raggio 1 collaboration

Lucía Spangenberg 1 collaboration

Sixto Garcia-Miñaúr 1 collaboration

Elizabeth R Roeder 1 collaboration

Rebecca O Littlejohn 1 collaboration

Dorothy Grange 1 collaboration

Jean Pfotenhauer 1 collaboration

Marilyn C Jones 1 collaboration

Meena Balasubramanian 1 collaboration

Antonio Martinez-Monseny 1 collaboration

Lot Snijders Blok 1 collaboration

Ralitza Gavrilova 1 collaboration

Jennifer L Fish 1 collaboration

Daniel Carvalho 1 collaboration

Tina Barbaro-Dieber 1 collaboration

Alberto J Espay 1 collaboration

Michael J Gambello 1 collaboration

Blanca Gener 1 collaboration

Erica Gerkes 1 collaboration

Marrit M Hitzert 1 collaboration

Hanne B Hove 1 collaboration

Sandra Jansen 1 collaboration

Petr E Jira 1 collaboration

Katherine Lachlan 1 collaboration

Leonie A Menke 1 collaboration

Vinodh Narayanan 1 collaboration

Damara Ortiz 1 collaboration

Eline Overwater 1 collaboration

Renata Posmyk 1 collaboration

Keri Ramsey 1 collaboration

Alessandro Rossi 1 collaboration

Renata Lazari Sandoval 1 collaboration

Constance Stumpel 1 collaboration

Kyra E Stuurman 1 collaboration

Peter Turnpenny 1 collaboration

Sheela Unger 1 collaboration

Todd Waters 1 collaboration

Clare Turnbull 1 collaboration

Raoul C Hennekam 1 collaboration

Erica L Macke 1 collaboration

Francesca Clementina Radio 1 collaboration

Stefania Lo Cicero 1 collaboration

Francesca Pantaleoni 1 collaboration

Massimo Tatti 1 collaboration

Emanuele Bellacchio 1 collaboration

Andrea Ciolfi 1 collaboration

Emanuele Agolini 1 collaboration

Alessandro Bruselles 1 collaboration

Nicola Brunetti-Pierri 1 collaboration

Mohnish Suri 1 collaboration

Katherine S Josephs 1 collaboration

Meriel McEntagart 1 collaboration

Brendan Lanpher 1 collaboration

Katherine C Nickels 1 collaboration

Andrea Haworth 1 collaboration

Laura Reed 1 collaboration

Isabella Mammi 1 collaboration

Jessica M Tarnowski 1 collaboration

Antonio Novelli 1 collaboration

None None 1 collaboration

Bruno Dallapiccola 1 collaboration

Eric Klee 1 collaboration

M A Siano 1 collaboration

V Marchetti 1 collaboration

S Pagano 1 collaboration

F Di Candia 1 collaboration

M Alessio 1 collaboration

D De Brasi 1 collaboration

A De Luca 1 collaboration

V Pinna 1 collaboration

S Sestito 1 collaboration

D Concolino 1 collaboration

M Tartaglia 1 collaboration

P Strisciuglio 1 collaboration

V D'Esposito 1 collaboration

S Cabaro 1 collaboration

G Perruolo 1 collaboration

P Formisano 1 collaboration

D Melis 1 collaboration

Valeria Marchetti 1 collaboration

Ferdinando Cirillo 1 collaboration

Alessandro Di Minno 1 collaboration

Stefano Pagano 1 collaboration

Antonia Assunto 1 collaboration

Giovanni Boccia 1 collaboration

Gerardo Magliacane 1 collaboration

Valentina Pinna 1 collaboration

Alessandro De Luca 1 collaboration

Giovanni Di Minno 1 collaboration

Paolo Fontana 1 collaboration

Pamela Paglia 1 collaboration

Carmelo Piscopo 1 collaboration

Daniele De Brasi 1 collaboration

Claudia Mandato 1 collaboration

Ilaria De Maggio 1 collaboration

Gabriella Maria Squeo 1 collaboration

Matteo Della Monica 1 collaboration

Gioacchino Scarano 1 collaboration

Fortunato Lonardo 1 collaboration

Giuseppe Merla 1 collaboration