M Rinelli

Affiliations

Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, Rome, Italy. martina.rinelli@opbg.net.

Publications (20)

Medulloblastoma Associated with Down Syndrome: From a Rare Event Leading to a Pathogenic Hypothesis.

Diagnostics (Basel, Switzerland)

Avec: Alessandra Boni , Marco Ranalli , Giada Del Baldo , Roberto Carta , Mariachiara Lodi , Emanuele Agolini , Martina Rinelli , Diletta Valentini , Sabrina Rossi , Viola Alesi , Antonella Cacchione , Evelina Miele , Iside Alessi , Anna Maria Caroleo , Giovanna Stefania Colafati , Maria Antonietta De Ioris , Luigi Boccuto , Mario Balducci , Andrea Carai , Angela Mastronuzzi

Rhabdoid Tumor Predisposition Syndrome: From Clinical Suspicion to General Management.

Frontiers in oncology

Avec: Giada Del Baldo , Roberto Carta , Iside Alessi , Pietro Merli , Emanuele Agolini , Martina Rinelli , Luigi Boccuto , Giuseppe Maria Milano , Annalisa Serra , Andrea Carai , Franco Locatelli , Angela Mastronuzzi

DICER1 Syndrome and Cancer Predisposition: From a Rare Pediatric Tumor to Lifetime Risk.

Frontiers in oncology

Avec: Anna Maria Caroleo , Maria Antonietta De Ioris , Luigi Boccuto , Iside Alessi , Giada Del Baldo , Antonella Cacchione , Emanuele Agolini , Martina Rinelli , Annalisa Serra , Andrea Carai , Angela Mastronuzzi

Cancer Predisposition Syndromes Associated With Pediatric High-Grade Gliomas.

Frontiers in pediatrics

Avec: Giulia Ceglie , Giada Del Baldo , Emanuele Agolini , Martina Rinelli , Antonella Cacchione , Francesca Del Bufalo , Maria Vinci , Roberto Carta , Luigi Boccuto , Evelina Miele , Angela Mastronuzzi , Franco Locatelli , Andrea Carai

Molecular Characterization of Medulloblastoma in a Patient with Neurofibromatosis Type 1: Case Report and Literature Review.

Diagnostics (Basel, Switzerland)

Avec: Marco Ranalli , Alessandra Boni , Anna Maria Caroleo , Giada Del Baldo , Martina Rinelli , Emanuele Agolini , Sabrina Rossi , Evelina Miele , Giovanna Stefania Colafati , Luigi Boccuto , Iside Alessi , Maria Antonietta De Ioris , Antonella Cacchione , Rossella Capolino , Andrea Carai , Sabina Vennarini , Angela Mastronuzzi

Gastric cancer, inflammatory bowel disease and polyautoimmunity in a 17-year-old boy: CTLA-4 deficiency successfully treated with Abatacept.

European journal of gastroenterology & hepatology

Avec: Giulia Angelino , Cristina Cifaldi , Paola Zangari , Silvia Di Cesare , Gigliola Di Matteo , Maria Chiriaco , Paola Francalanci , Simona Faraci , Francesca Rea , Erminia Francesca Romeo , Donato Amodio , Giorgiana Madalina Ursu , Arianna Bertocchini , Antonella Accinni , Alessandro Crocoli , Alessandro Inserra , Raffaele Cozza , Claudio Romano , Maria Licciardello , Martina Rinelli , Luigi Dall'Oglio , Caterina Cancrini , Paola De Angelis , Andrea Finocchi

Potential pathogenetic role of a novel ABCC8 missense variant on both transient neonatal diabetes mellitus and fetal growth restriction: a case report.

Molecular biology reports

Avec: Alessandro Perri , Simona Fattore , Angelo Minucci , Martina Rinelli , Fabrizio Barbetti , Dario Pitocco , Simonetta Costa , Giovanni Vento

Pathogenic Variants in GPC4 Cause Keipert Syndrome.

American journal of human genetics

Avec: David J Amor , Sarah E M Stephenson , Mirna Mustapha , Martin A Mensah , Charlotte W Ockeloen , Wei Shern Lee , Rick M Tankard , Dean G Phelan , Marwan Shinawi , Arjan P M de Brouwer , Rolph Pfundt , Cari Dowling , Tomi L Toler , V Reid Sutton , Emanuele Agolini , Martina Rinelli , Rossella Capolino , Diego Martinelli , Giuseppe Zampino , Miroslav Dumić , William Reardon , Charles Shaw-Smith , Richard J Leventer , Martin B Delatycki , Tjitske Kleefstra , Stefan Mundlos , Geert Mortier , Melanie Bahlo , Nicola J Allen , Paul J Lockhart

Ectodermal Dysplasia-Syndactyly Syndrome with Toe-Only Minimal Syndactyly Due to a Novel Mutation in NECTIN4: A Case Report and Literature Review.

Genes

Avec: Roberta Rotunno , Andrea Diociaiuti , Maria Lisa Dentici , Martina Rinelli , Michele Callea , Chiara Retrosi , Giovanna Zambruno , Emanuele Bellacchio , May El Hachem

Targeted therapy for pediatric diffuse intrinsic pontine glioma: a single-center experience.

Therapeutic advances in medical oncology

Avec: Giada Del Baldo , Andrea Carai , Rachid Abbas , Antonella Cacchione , Mara Vinci , Valentina Di Ruscio , Giovanna Stefania Colafati , Sabrina Rossi , Francesca Diomedi Camassei , Nicola Maestro , Sara Temelso , Giulia Pericoli , Emmanuel De Billy , Isabella Giovannoni , Alessia Carboni , Martina Rinelli , Emanuele Agolini , Alan Mackay , Chris Jones , Silvia Chiesa , Mario Balducci , Franco Locatelli , Angela Mastronuzzi

Liquid Biopsy with Detection of NRAS

Diagnostics (Basel, Switzerland)

Avec: Angela Mastronuzzi , Francesco Fabozzi , Martina Rinelli , Rita De Vito , Emanuele Agolini , Giovanna Stefania Colafati , Antonella Cacchione , Andrea Carai , Maria Antonietta De Ioris

Cancer Predisposition Syndromes and Medulloblastoma in the Molecular Era.

Frontiers in oncology

Avec: Roberto Carta , Giada Del Baldo , Evelina Miele , Agnese Po , Zein Mersini Besharat , Francesca Nazio , Giovanna Stefania Colafati , Eleonora Piccirilli , Emanuele Agolini , Martina Rinelli , Mariachiara Lodi , Antonella Cacchione , Andrea Carai , Luigi Boccuto , Elisabetta Ferretti , Franco Locatelli , Angela Mastronuzzi

Correction to: Structural modeling of a novel TERC variant in a patient with aplastic anemia and short telomeres.

Annals of hematology

Avec: M Rinelli , E Bellacchio , F Berardinelli , G Pascolini , P Grammatico , A Sgura , A P Iori , L Quattrocchi , A Novelli , S Majore , E Agolini

Identification and Molecular Characterization of a Novel Large-Scale Variant (Exons 4_18 Loss) in the LDLR Gene as a Cause of Familial Hypercholesterolaemia in an Italian Family.

Genes

Avec: Paola Concolino , Elisa De Paolis , Simona Moffa , Maria Elisabetta Onori , Laura Soldovieri , Claudio Ricciardi Tenore , Maria De Bonis , Claudio Rabacchi , Concetta Santonocito , Martina Rinelli , Sebastiano Calandra , Andrea Giaccari , Andrea Urbani , Angelo Minucci

Pediatric gastrointestinal stromal tumor: Report of two novel patients harboring germline variants in SDHB and SDHC genes.

Cancer genetics

Avec: Martina Rinelli , Emanuele Agolini , Giuseppe Maria Milano , Ida Russo , Alessandro Crocoli , Rita De Vito , Angela Di Giannatale , Pier Luigi Di Paolo , Antonio Novelli

Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature.

Diagnostics (Basel, Switzerland)

Avec: Mariachiara Lodi , Luigi Boccuto , Andrea Carai , Antonella Cacchione , Evelina Miele , Giovanna Stefania Colafati , Francesca Diomedi Camassei , Luca De Palma , Alessandro De Benedictis , Elisabetta Ferretti , Giuseppina Catanzaro , Agnese Pò , Alessandro De Luca , Martina Rinelli , Francesca Romana Lepri , Emanuele Agolini , Marco Tartaglia , Franco Locatelli , Angela Mastronuzzi

KBG syndrome: Common and uncommon clinical features based on 31 new patients.

American journal of medical genetics. Part A

Avec: Maria Gnazzo , Francesca R Lepri , Maria Lisa Dentici , Rossella Capolino , Elisa Pisaneschi , Emanuele Agolini , Martina Rinelli , Viola Alesi , Paolo Versacci , Silvia Genovese , Claudia Cesario , Lorenzo Sinibaldi , Anwar Baban , Andrea Bartuli , Bruno Marino , Marco Cappa , Bruno Dallapiccola , Antonio Novelli , Maria Cristina Digilio

Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene.

Clinical genetics

Avec: Emanuele Agolini , Elena Botta , Mariachiara Lodi , Maria Cristina Digilio , Martina Rinelli , Emanuele Bellacchio , Viola Alesi , Tiziana Nardo , Giovanna Zambruno , Donata Orioli , Iside Alessi , Luigi Boccuto , Sabrina Rossi , Andrea Carai , Giovanna Stefania Colafati , Antonella Cacchione , Bruno Dallapiccola , Antonio Novelli , Angela Mastronuzzi

Posterior fossa ependymoma in neurodevelopmental syndrome caused by a de novo germline pathogenic POLR2A variant.

American journal of medical genetics. Part A

Avec: Roberto Paparella , Anna Maria Caroleo , Emanuele Agolini , Giovanni Chillemi , Evelina Miele , Lucia Pedace , Martina Rinelli , Simone Pizzi , Luigi Boccuto , Giovanna Stefania Colafati , Mariachiara Lodi , Antonella Cacchione , Andrea Carai , Maria Cristina Digilio , Paolo Tomà , Marco Tartaglia , Angela Mastronuzzi

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.

European journal of human genetics : EJHG

Avec: Henry Oppermann , Elia Marcos-Grañeda , Linnea A Weiss , Christina A Gurnett , Anne Marie Jelsig , Susanne H Vineke , Bertrand Isidor , Sandra Mercier , Kari Magnussen , Pia Zacher , Mona Hashim , Alistair T Pagnamenta , Simone Race , Siddharth Srivastava , Zoë Frazier , Robert Maiwald , Matthias Pergande , Donatella Milani , Martina Rinelli , Jonathan Levy , Ilona Krey , Paolo Fontana , Fortunato Lonardo , Stephanie Riley , Jasmine Kretzer , Julia Rankin , Linda M Reis , Elena V Semina , Miriam S Reuter , Stephen W Scherer , Maria Iascone , Denisa Weis , Christina R Fagerberg , Charlotte Brasch-Andersen , Lars Kjaersgaard Hansen , Alma Kuechler , Nathan Noble , Alice Gardham , Jessica Tenney , Geetanjali Rathore , Stefanie Beck-Woedl , Tobias B Haack , Despoina C Pavlidou , Isis Atallah , Julia Vodopiutz , Andreas R Janecke , Tzung-Chien Hsieh , Hellen Lesmann , Hannah Klinkhammer , Peter M Krawitz , Johannes R Lemke , Rami Abou Jamra , Marta Nieto , Zeynep Tümer , Konrad Platzer

Réseau de co-auteurs

Martina Rinelli 19 collaborations

Emanuele Agolini 14 collaborations

Andrea Carai 11 collaborations

Angela Mastronuzzi 11 collaborations

Antonella Cacchione 10 collaborations

Luigi Boccuto 9 collaborations

Giovanna Stefania Colafati 8 collaborations

Giada Del Baldo 7 collaborations

Evelina Miele 6 collaborations

Mariachiara Lodi 5 collaborations

Iside Alessi 5 collaborations

Franco Locatelli 5 collaborations

Roberto Carta 4 collaborations

Sabrina Rossi 4 collaborations

Anna Maria Caroleo 4 collaborations

Maria Antonietta De Ioris 4 collaborations

Viola Alesi 3 collaborations

Rossella Capolino 3 collaborations

Antonio Novelli 3 collaborations

Maria Cristina Digilio 3 collaborations

Alessandra Boni 2 collaborations

Marco Ranalli 2 collaborations

Mario Balducci 2 collaborations

Giuseppe Maria Milano 2 collaborations

Annalisa Serra 2 collaborations

Alessandro Crocoli 2 collaborations

Angelo Minucci 2 collaborations

Maria Lisa Dentici 2 collaborations

Giovanna Zambruno 2 collaborations

Emanuele Bellacchio 2 collaborations

Francesca Diomedi Camassei 2 collaborations

Rita De Vito 2 collaborations

Elisabetta Ferretti 2 collaborations

Marco Tartaglia 2 collaborations

Bruno Dallapiccola 2 collaborations

Diletta Valentini 1 collaboration

Pietro Merli 1 collaboration

Giulia Ceglie 1 collaboration

Francesca Del Bufalo 1 collaboration

Maria Vinci 1 collaboration

Sabina Vennarini 1 collaboration

Giulia Angelino 1 collaboration

Cristina Cifaldi 1 collaboration

Paola Zangari 1 collaboration

Silvia Di Cesare 1 collaboration

Gigliola Di Matteo 1 collaboration

Maria Chiriaco 1 collaboration

Paola Francalanci 1 collaboration

Simona Faraci 1 collaboration

Francesca Rea 1 collaboration

Erminia Francesca Romeo 1 collaboration

Donato Amodio 1 collaboration

Giorgiana Madalina Ursu 1 collaboration

Arianna Bertocchini 1 collaboration

Antonella Accinni 1 collaboration

Alessandro Inserra 1 collaboration

Raffaele Cozza 1 collaboration

Claudio Romano 1 collaboration

Maria Licciardello 1 collaboration

Luigi Dall'Oglio 1 collaboration

Caterina Cancrini 1 collaboration

Paola De Angelis 1 collaboration

Andrea Finocchi 1 collaboration

Alessandro Perri 1 collaboration

Simona Fattore 1 collaboration

Fabrizio Barbetti 1 collaboration

Dario Pitocco 1 collaboration

Simonetta Costa 1 collaboration

Giovanni Vento 1 collaboration

David J Amor 1 collaboration

Sarah E M Stephenson 1 collaboration

Mirna Mustapha 1 collaboration

Martin A Mensah 1 collaboration

Charlotte W Ockeloen 1 collaboration

Wei Shern Lee 1 collaboration

Rick M Tankard 1 collaboration

Dean G Phelan 1 collaboration

Marwan Shinawi 1 collaboration

Arjan P M de Brouwer 1 collaboration

Rolph Pfundt 1 collaboration

Cari Dowling 1 collaboration

Tomi L Toler 1 collaboration

V Reid Sutton 1 collaboration

Diego Martinelli 1 collaboration

Giuseppe Zampino 1 collaboration

Miroslav Dumić 1 collaboration

William Reardon 1 collaboration

Charles Shaw-Smith 1 collaboration

Richard J Leventer 1 collaboration

Martin B Delatycki 1 collaboration

Tjitske Kleefstra 1 collaboration

Stefan Mundlos 1 collaboration

Geert Mortier 1 collaboration

Melanie Bahlo 1 collaboration

Nicola J Allen 1 collaboration

Paul J Lockhart 1 collaboration

Roberta Rotunno 1 collaboration

Andrea Diociaiuti 1 collaboration

Michele Callea 1 collaboration

Chiara Retrosi 1 collaboration

May El Hachem 1 collaboration

Rachid Abbas 1 collaboration

Mara Vinci 1 collaboration

Valentina Di Ruscio 1 collaboration

Nicola Maestro 1 collaboration

Sara Temelso 1 collaboration

Giulia Pericoli 1 collaboration

Emmanuel De Billy 1 collaboration

Isabella Giovannoni 1 collaboration

Alessia Carboni 1 collaboration

Alan Mackay 1 collaboration

Chris Jones 1 collaboration

Silvia Chiesa 1 collaboration

Francesco Fabozzi 1 collaboration

Agnese Po 1 collaboration

Zein Mersini Besharat 1 collaboration

Francesca Nazio 1 collaboration

Eleonora Piccirilli 1 collaboration

E Bellacchio 1 collaboration

F Berardinelli 1 collaboration

G Pascolini 1 collaboration

P Grammatico 1 collaboration

A Sgura 1 collaboration

A P Iori 1 collaboration

L Quattrocchi 1 collaboration

A Novelli 1 collaboration

S Majore 1 collaboration

E Agolini 1 collaboration

Paola Concolino 1 collaboration

Elisa De Paolis 1 collaboration

Simona Moffa 1 collaboration

Maria Elisabetta Onori 1 collaboration

Laura Soldovieri 1 collaboration

Claudio Ricciardi Tenore 1 collaboration

Maria De Bonis 1 collaboration

Claudio Rabacchi 1 collaboration

Concetta Santonocito 1 collaboration

Sebastiano Calandra 1 collaboration

Andrea Giaccari 1 collaboration

Andrea Urbani 1 collaboration

Ida Russo 1 collaboration

Angela Di Giannatale 1 collaboration

Pier Luigi Di Paolo 1 collaboration

Luca De Palma 1 collaboration

Alessandro De Benedictis 1 collaboration

Giuseppina Catanzaro 1 collaboration

Agnese Pò 1 collaboration

Alessandro De Luca 1 collaboration

Francesca Romana Lepri 1 collaboration

Maria Gnazzo 1 collaboration

Francesca R Lepri 1 collaboration

Elisa Pisaneschi 1 collaboration

Paolo Versacci 1 collaboration

Silvia Genovese 1 collaboration

Claudia Cesario 1 collaboration

Lorenzo Sinibaldi 1 collaboration

Anwar Baban 1 collaboration

Andrea Bartuli 1 collaboration

Bruno Marino 1 collaboration

Marco Cappa 1 collaboration

Elena Botta 1 collaboration

Tiziana Nardo 1 collaboration

Donata Orioli 1 collaboration

Roberto Paparella 1 collaboration

Giovanni Chillemi 1 collaboration

Lucia Pedace 1 collaboration

Simone Pizzi 1 collaboration

Paolo Tomà 1 collaboration

Henry Oppermann 1 collaboration

Elia Marcos-Grañeda 1 collaboration

Linnea A Weiss 1 collaboration

Christina A Gurnett 1 collaboration

Anne Marie Jelsig 1 collaboration

Susanne H Vineke 1 collaboration

Bertrand Isidor 1 collaboration

Sandra Mercier 1 collaboration

Kari Magnussen 1 collaboration

Pia Zacher 1 collaboration

Mona Hashim 1 collaboration

Alistair T Pagnamenta 1 collaboration

Simone Race 1 collaboration

Siddharth Srivastava 1 collaboration

Zoë Frazier 1 collaboration

Robert Maiwald 1 collaboration

Matthias Pergande 1 collaboration

Donatella Milani 1 collaboration

Jonathan Levy 1 collaboration

Ilona Krey 1 collaboration

Paolo Fontana 1 collaboration

Fortunato Lonardo 1 collaboration

Stephanie Riley 1 collaboration

Jasmine Kretzer 1 collaboration

Julia Rankin 1 collaboration

Linda M Reis 1 collaboration

Elena V Semina 1 collaboration

Miriam S Reuter 1 collaboration

Stephen W Scherer 1 collaboration

Maria Iascone 1 collaboration

Denisa Weis 1 collaboration

Christina R Fagerberg 1 collaboration

Charlotte Brasch-Andersen 1 collaboration

Lars Kjaersgaard Hansen 1 collaboration

Alma Kuechler 1 collaboration

Nathan Noble 1 collaboration

Alice Gardham 1 collaboration

Jessica Tenney 1 collaboration

Geetanjali Rathore 1 collaboration

Stefanie Beck-Woedl 1 collaboration

Tobias B Haack 1 collaboration

Despoina C Pavlidou 1 collaboration

Isis Atallah 1 collaboration

Julia Vodopiutz 1 collaboration

Andreas R Janecke 1 collaboration

Tzung-Chien Hsieh 1 collaboration

Hellen Lesmann 1 collaboration

Hannah Klinkhammer 1 collaboration

Peter M Krawitz 1 collaboration

Johannes R Lemke 1 collaboration

Rami Abou Jamra 1 collaboration

Marta Nieto 1 collaboration

Zeynep Tümer 1 collaboration

Konrad Platzer 1 collaboration