Giulietta Scuvera

Affiliations

IRCCS Fondazione Ca' Granda Ospedale Maggiore Policlinico, Medical Genetics Unit, Woman-Child-Newborn Department, Milan, Italy.

Publications (10)

Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review.

Skeletal muscle

Avec: Francesca Magri , Sara Antognozzi , Michela Ripolone , Simona Zanotti , Laura Napoli , Patrizia Ciscato , Daniele Velardo , Valeria Nicotra , Antonella Giacobbe , Donatella Milani , Francesco Fortunato , Manuela Garbellini , Monica Sciacco , Stefania Corti , Giacomo Pietro Comi , Dario Ronchi

Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.

Cancers

Avec: Giulia Melloni , Marica Eoli , Claudia Cesaretti , Donatella Bianchessi , Maria Cristina Ibba , Silvia Esposito , Guido Morcaldi , Roberto Micheli , Elena Piozzi , Sabrina Avignone , Luisa Chiapparini , Chiara Pantaleoni , Federica Natacci , Gaetano Finocchiaro , Veronica Saletti

Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology.

Genes & genomics

Avec: Giada Moresco , Ornella Rondinone , Alessia Mauri , Jole Costanza , Carlo Santaniello , Patrizia Colapietro , Emanuele Micaglio , Giovanni Marfia , Chiara Pesenti , Federico Grilli , Berardo Rinaldi , Elisabetta Prada , Roberta Villa , Maria Francesca Bedeschi , Monica Rosa Miozzo , Donatella Milani , Laura Fontana

The overlapping of phenotypes in Wiedemann-Steiner, Kleefstra and Coffin-Siris syndromes: a study of eleven patients.

Italian journal of pediatrics

Avec: Elisabetta Prada , Camilla Meossi , Denise Piras Marafon , Federico Grilli , Paola Giovanna Marchisio , Carlo Virginio Agostoni , Federica Natacci , Donatella Milani

Family burden of children suffering from epidermolysis bullosa.

Italian journal of dermatology and venereology

Avec: Santa DE Stefano , Francesca S Grassi , Faustina Lalatta , Michela Brena , Paolo Grillo , Walter E Peves Rios , Sophie Guez

Unexpected phenotype in a frameshift mutation of PTCH1.

Molecular genetics & genomic medicine

Avec: Benedetta Beltrami , Elisabetta Prada , Gianluca Tolva , Rosamaria Silipigni , Daniela Graziani , Gaetano Bulfamante , Cristina Gervasini , Paola Marchisio , Donatella Milani

From clinical to molecular diagnosis: relevance of diagnostic strategy in two cases of branchio-oto-renal syndrome - case report.

Italian journal of pediatrics

Avec: Elena Cacciatori , Sebastiano Aleo , Chiara Rigon , Paola Giovanna Marchisio , Matteo Cassina , Donatella Milani

Simultaneous Detection of

Genes

Avec: Donatella Bianchessi , Maria Cristina Ibba , Veronica Saletti , Stefania Blasa , Tiziana Langella , Rosina Paterra , Giulia Anna Cagnoli , Giulia Melloni , Federica Natacci , Claudia Cesaretti , Gaetano Finocchiaro , Marica Eoli

Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery.

Frontiers in cell and developmental biology

Avec: Sebastiano Aleo , Claudia Cinnante , Sabrina Avignone , Elisabetta Prada , Paola Francesca Ajmone , Angelo Selicorni , Maria Antonella Costantino , Fabio Triulzi , Paola Marchisio , Cristina Gervasini , Donatella Milani

Maternal Uniparental Disomy of Chromosome 20 (UPD(20)mat) as Differential Diagnosis of Silver Russell Syndrome: Identification of Three New Cases.

Genes

Avec: Pierpaola Tannorella , Daniele Minervino , Sara Guzzetti , Alessandro Vimercati , Luciano Calzari , Giuseppa Patti , Mohamad Maghnie , Anna Elsa Maria Allegri , Donatella Milani , Milena Mariani , Piergiorgio Modena , Angelo Selicorni , Lidia Larizza , Silvia Russo

Réseau de co-auteurs

Donatella Milani 7 collaborations

Elisabetta Prada 4 collaborations

Federica Natacci 3 collaborations

Giulia Melloni 2 collaborations

Marica Eoli 2 collaborations

Claudia Cesaretti 2 collaborations

Donatella Bianchessi 2 collaborations

Maria Cristina Ibba 2 collaborations

Sabrina Avignone 2 collaborations

Gaetano Finocchiaro 2 collaborations

Veronica Saletti 2 collaborations

Federico Grilli 2 collaborations

Paola Giovanna Marchisio 2 collaborations

Cristina Gervasini 2 collaborations

Paola Marchisio 2 collaborations

Sebastiano Aleo 2 collaborations

Angelo Selicorni 2 collaborations

Francesca Magri 1 collaboration

Sara Antognozzi 1 collaboration

Michela Ripolone 1 collaboration

Simona Zanotti 1 collaboration

Laura Napoli 1 collaboration

Patrizia Ciscato 1 collaboration

Daniele Velardo 1 collaboration

Valeria Nicotra 1 collaboration

Antonella Giacobbe 1 collaboration

Francesco Fortunato 1 collaboration

Manuela Garbellini 1 collaboration

Monica Sciacco 1 collaboration

Stefania Corti 1 collaboration

Giacomo Pietro Comi 1 collaboration

Dario Ronchi 1 collaboration

Silvia Esposito 1 collaboration

Guido Morcaldi 1 collaboration

Roberto Micheli 1 collaboration

Elena Piozzi 1 collaboration

Luisa Chiapparini 1 collaboration

Chiara Pantaleoni 1 collaboration

Giada Moresco 1 collaboration

Ornella Rondinone 1 collaboration

Alessia Mauri 1 collaboration

Jole Costanza 1 collaboration

Carlo Santaniello 1 collaboration

Patrizia Colapietro 1 collaboration

Emanuele Micaglio 1 collaboration

Giovanni Marfia 1 collaboration

Chiara Pesenti 1 collaboration

Berardo Rinaldi 1 collaboration

Roberta Villa 1 collaboration

Maria Francesca Bedeschi 1 collaboration

Monica Rosa Miozzo 1 collaboration

Laura Fontana 1 collaboration

Camilla Meossi 1 collaboration

Denise Piras Marafon 1 collaboration

Carlo Virginio Agostoni 1 collaboration

Santa DE Stefano 1 collaboration

Francesca S Grassi 1 collaboration

Faustina Lalatta 1 collaboration

Michela Brena 1 collaboration

Paolo Grillo 1 collaboration

Walter E Peves Rios 1 collaboration

Sophie Guez 1 collaboration

Benedetta Beltrami 1 collaboration

Gianluca Tolva 1 collaboration

Rosamaria Silipigni 1 collaboration

Daniela Graziani 1 collaboration

Gaetano Bulfamante 1 collaboration

Elena Cacciatori 1 collaboration

Chiara Rigon 1 collaboration

Matteo Cassina 1 collaboration

Stefania Blasa 1 collaboration

Tiziana Langella 1 collaboration

Rosina Paterra 1 collaboration

Giulia Anna Cagnoli 1 collaboration

Claudia Cinnante 1 collaboration

Paola Francesca Ajmone 1 collaboration

Maria Antonella Costantino 1 collaboration

Fabio Triulzi 1 collaboration

Pierpaola Tannorella 1 collaboration

Daniele Minervino 1 collaboration

Sara Guzzetti 1 collaboration

Alessandro Vimercati 1 collaboration

Luciano Calzari 1 collaboration

Giuseppa Patti 1 collaboration

Mohamad Maghnie 1 collaboration

Anna Elsa Maria Allegri 1 collaboration

Milena Mariani 1 collaboration

Piergiorgio Modena 1 collaboration

Lidia Larizza 1 collaboration

Silvia Russo 1 collaboration