Guiseppe Zampino

Publications (46)

Skeletal abnormalities are common features in Aymé-Gripp syndrome.

Clinical genetics

Avec: Marcello Niceta , Domenico Barbuti , Neerja Gupta , Carlos Ruggiero , Eduardo F Tizzano , Luitgard Graul-Neumann , Sabina Barresi , Gen Nishimura , Irene Valenzuela , Fermina López-Grondona , Paula Fernandez-Alvarez , Chiara Leoni , Christiane Zweier , Andreas Tzschach , Emilia Stellacci , Andrea Del Fattore , Bruno Dallapiccola , Giuseppe Zampino , Marco Tartaglia

Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency.

Journal of inherited metabolic disease

Avec: Ina Knerr , Roberto Colombo , Jill Urquhart , Ana Morais , Begona Merinero , Alfonso Oyarzabal , Belén Pérez , Simon A Jones , Rahat Perveen , Mary A Preece , Yvonne Rogers , Eileen P Treacy , Philip Mayne , Giuseppe Zampino , Sabrina MacKinnon , Evangeline Wassmer , Wyatt W Yue , Ian Robinson , Pilar Rodríguez-Pombo , Simon E Olpin , Siddharth Banka

Two case reports of fetal alcohol syndrome: broadening into the spectrum of cardiac disease to personalize and to improve clinical assessment.

Italian journal of pediatrics

Avec: R Onesimo , C De Rose , A B Delogu , A Battista , C Leoni , S Veltri , G De Rosa , G Zampino

Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants.

European journal of medical genetics

Avec: Fanny Kortüm , Marcello Niceta , Monia Magliozzi , Katja Dumic Kubat , Stephen P Robertson , Angelica Moresco , Maria Lisa Dentici , Anwar Baban , Chiara Leoni , Roberta Onesimo , Maria Gabriela Obregon , Maria Cristina Digilio , Giuseppe Zampino , Antonio Novelli , Marco Tartaglia , Kerstin Kutsche

Defining language disorders in children and adolescents with Noonan Syndrome.

Molecular genetics & genomic medicine

Avec: Giulia Lazzaro , Cristina Caciolo , Deny Menghini , Francesca Cumbo , Maria C Digilio , Rossella Capolino , Giuseppe Zampino , Marco Tartaglia , Stefano Vicari , Paolo Alfieri

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.

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

Avec: James Fasham , Siying Lin , Promita Ghosh , Francesca Clementina Radio , Emily G Farrow , Isabelle Thiffault , Jennifer Kussman , Dihong Zhou , Rick Hemming , Kenneth Zahka , Barry A Chioza , Lettie E Rawlins , Olivia K Wenger , Adam C Gunning , Simone Pizzi , Roberta Onesimo , Giuseppe Zampino , Emily Barker , Natasha Osawa , Megan Christine Rodriguez , Teresa M Neuhann , Elaine H Zackai , Beth Keena , Jenina Capasso , Alex V Levin , Elizabeth Bhoj , Dong Li , Hakon Hakonarson , Ingrid M Wentzensen , Adam Jackson , Kate E Chandler , Zeynep H Coban-Akdemir , Jennifer E Posey , Siddharth Banka , James R Lupski , Sarah E Sheppard , Marco Tartaglia , Barbara Triggs-Raine , Andrew H Crosby , Emma L Baple

Cognitive and Adaptive Characterization of Children and Adolescents with KBG Syndrome: An Explorative Study.

Journal of clinical medicine

Avec: Paolo Alfieri , Cristina Caciolo , Giulia Lazzaro , Deny Menghini , Francesca Cumbo , Maria Lisa Dentici , Maria Cristina Digilio , Maria Gnazzo , Francesco Demaria , Virginia Pironi , Giuseppe Zampino , Antonio Novelli , Marco Tartaglia , Stefano Vicari

Recognition Memory in Noonan Syndrome.

Brain sciences

Avec: Floriana Costanzo , Paolo Alfieri , Cristina Caciolo , Paola Bergonzini , Francesca Perrino , Giuseppe Zampino , Chiara Leoni , Deny Menghini , Maria Cristina Digilio , Marco Tartaglia , Stefano Vicari , Giovanni Augusto Carlesimo

Point of view of the Italians pediatric scientific societies about the pediatric care during the COVID-19 lockdown: what has changed and future prospects for restarting.

Italian journal of pediatrics

Avec: Riccardo Lubrano , Alberto Villani , Stefano Berrettini , Paolo Caione , Alberto Chiara , Antonella Costantino , Roberto Formigari , Emilio Franzoni , Guido Castelli Gattinara , Arturo Giustardi , Giancarlo La Marca , Paolo Lionetti , Mario Lima , Claudio Maffei , Monica Malamisura , Giantonio Manzoni , Gian Luigi Marseglia , Antonio Memeo , Fabio Mosca , Giovanna Perricone , Licia Peruzzi , Giorgio Piacentini , Gabriella Pozzobon , Enrica Riva , Simonetta Tesoro , Giuseppe Zampino , Federica Zanetto , Marco Zecca , Silvia Bloise

Association between Coagulation Profile and Clinical Outcome in Children with SARS-CoV-2 Infection or MIS-C: A Multicenter Cross-Sectional Study.

Children (Basel, Switzerland)

Avec: Danilo Buonsenso , Francesco Mariani , Luca Pierri , Rosa Morello , Adriana Yock-Corrales , Olguita Del Aguila , Ilaria Lazzareschi , Giuseppe Zampino , Francesco Nunziata , Piero Valentini , Andrea Lo Vecchio

Smith Magenis syndrome: First case of congenital heart defect in a patient with Rai1 mutation.

American journal of medical genetics. Part A

Avec: Roberta Onesimo , Angelica Bibiana Delogu , Rita Blandino , Chiara Leoni , Jessica Rosati , Marcella Zollino , Giuseppe Zampino

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

Airways and craniofacial assessment in children affected by achondroplasia with and without sleep-disordered breathing: quantitative magnetic resonance study.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

Avec: Rosalinda Calandrelli , Fabio Pilato , Gabriella D'Apolito , Lorenzo Tenore , Roberta Onesimo , Chiara Leoni , Giuseppe Zampino , Cesare Colosimo

Risk factors for post-COVID-19 condition (Long Covid) in children: a prospective cohort study.

EClinicalMedicine

Avec: Rosa Morello , Francesco Mariani , Luca Mastrantoni , Cristina De Rose , Giuseppe Zampino , Daniel Munblit , Louise Sigfrid , Piero Valentini , Danilo Buonsenso

Prevalence of gastrointestinal disorders in individuals with RASopathies: May RAS/MAP/ERK pathway dysfunctions be a model of neuropathic pain and visceral hypersensitivity?

American journal of medical genetics. Part A

Avec: Chiara Leoni , Valentina Giorgio , Giuseppe Stella , Roberta Onesimo , Elizabeth K A Triumbari , Maria Podagrosi , Eliza Kuczynska , Catello Vollono , Keith J Lindley , Giuseppe Zampino

Celiac disease prevalence and predisposing-HLA in a cohort of 93 Williams-Beuren syndrome patients.

American journal of medical genetics. Part A

Avec: Cecilia Ghisleni , Barbara Parma , Paola Cianci , Anita De Paoli , Elisabetta Pangallo , Teresa Agovino , Anna Cereda , Maria Francesca Bedeschi , Roberta Villa , Chiara Fossati , Piergiorgio Modena , Carolina Giudici , Carla Morando , Luigi Memo , Roberta Onesimo , Giuseppe Zampino , Silvia Salvatore , Massimo Agosti , Angelo Selicorni

Obsessive Compulsive "Paper Handling": A Potential Distinctive Behavior in Children and Adolescents with KBG Syndrome.

Journal of clinical medicine

Avec: Francesco Demaria , Paolo Alfieri , Maria Cristina Digilio , Maria Pontillo , Cristina Di Vincenzo , Federica Alice Maria Montanaro , Valentina Ciullo , Giuseppe Zampino , Stefano Vicari

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.

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

Avec: Richard H van Jaarsveld , Jack Reilly , Marie-Claire Cornips , Michael A Hadders , Emanuele Agolini , Priyanka Ahimaz , Kwame Anyane-Yeboa , Severine Audebert Bellanger , Ellen van Binsbergen , Marie-Jose van den Boogaard , Elise Brischoux-Boucher , Raymond C Caylor , Andrea Ciolfi , Ton A J van Essen , Paolo Fontana , Saskia Hopman , Maria Iascone , Margaret M Javier , Erik-Jan Kamsteeg , Jennifer Kerkhof , Jun Kido , Hyung-Goo Kim , Tjitske Kleefstra , Fortunato Lonardo , Abbe Lai , Dorit Lev , Michael A Levy , M E Suzanne Lewis , Angie Lichty , Marcel M A M Mannens , Naomichi Matsumoto , Idit Maya , Haley McConkey , Andre Megarbane , Vincent Michaud , Evelina Miele , Marcello Niceta , Antonio Novelli , Roberta Onesimo , Rolph Pfundt , Bernt Popp , Eloise Prijoles , Raissa Relator , Sylvia Redon , Dmitrijs Rots , Karen Rouault , Ken Saida , Jolanda Schieving , Marco Tartaglia , Romano Tenconi , Kevin Uguen , Nienke Verbeek , Christopher A Walsh , Keren Yosovich , Christopher J Yuskaitis , Giuseppe Zampino , Bekim Sadikovic , Mariëlle Alders , Renske Oegema

Novel Variant in the

Molecular syndromology

Avec: Cristiana Agazzi , Monia Magliozzi , Onofrio Iacoviello , Stefano Palladino , Maurizio Delvecchio , Maristella Masciopinto , Alessio Galati , Antonio Novelli , Francesco Andrea Causio , Giuseppe Zampino , Claudia Ruggiero , Rita Fischetto

Validation and cross-cultural adaptation of the Italian version of the paediatric eating assessment tool (I-PEDI-EAT-10) in genetic syndromes.

International journal of language & communication disorders

Avec: Roberta Onesimo , Elisabetta Sforza , Elizabeth Katherine Anna Triumbari , Francesco Proli , Chiara Leoni , Valentina Giorgio , Donato Rigante , Valentina Trevisan , Cristina De Rose , Eliza Maria Kuczynska , Antonella Cerchiari , Marika Pane , Eugenio Mercuri , Peter Belafsky , Giuseppe Zampino

Feeding and Nutritional Key Features of Crisponi/Cold-Induced Sweating Syndrome.

Genes

Avec: Roberta Onesimo , Elisabetta Sforza , Federica Palermo , Valentina Giorgio , Chiara Leoni , Donato Rigante , Valentina Trevisan , Cristiana Agazzi , Domenico Limongelli , Francesco Proli , Eliza Maria Kuczynska , Laura Crisponi , Giangiorgio Crisponi , Giuseppe Zampino

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.

Annals of neurology

Avec: Patrick R Blackburn , Frédéric Ebstein , Tzung-Chien Hsieh , Marialetizia Motta , Francesca Clementina Radio , Johanna C Herkert , Tuula Rinne , Isabelle Thiffault , Michele Rapp , Mariel Alders , Saskia Maas , Bénédicte Gerard , Thomas Smol , Catherine Vincent-Delorme , Benjamin Cogné , Bertrand Isidor , Marie Vincent , Ruxandra Bachmann-Gagescu , Anita Rauch , Pascal Joset , Giovanni Battista Ferrero , Andrea Ciolfi , Thomas Husson , Anne-Marie Guerrot , Carlos Bacino , Colleen Macmurdo , Stephanie S Thompson , Jill A Rosenfeld , Laurence Faivre , Frederic Tran Mau-Them , Wallid Deb , Virginie Vignard , Pankaj B Agrawal , Jill A Madden , Alice Goldenberg , François Lecoquierre , Michael Zech , Holger Prokisch , Ján Necpál , Robert Jech , Juliane Winkelmann , Monika Turčanová Koprušáková , Vassiliki Konstantopoulou , John R Younce , Marwan Shinawi , Chloe Mighton , Charlotte Fung , Chantal F Morel , Jordan Lerner-Ellis , Stephanie DiTroia , Magalie Barth , Dominique Bonneau , Ingrid Krapels , Alexander P A Stegmann , Vyne van der Schoot , Theresa Brunet , Cornelia Bußmann , Cyril Mignot , Giuseppe Zampino , Saskia B Wortmann , Johannes A Mayr , René G Feichtinger , Thomas Courtin , Claudia Ravelli , Boris Keren , Alban Ziegler , Linda Hasadsri , Pavel N Pichurin , Eric W Klee , Katheryn Grand , Pedro A Sanchez-Lara , Elke Krüger , Stéphane Bézieau , Hannah Klinkhammer , Peter Michael Krawitz , Evan E Eichler , Marco Tartaglia , Sébastien Küry , Tianyun Wang

Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome.

American journal of medical genetics. Part A

Avec: Andrea Gazzin , Diana Carli , Fabio Sirchia , Cristina Molinatto , Simona Cardaropoli , Giuseppe Palumbo , Giuseppe Zampino , Giovanni Battista Ferrero , Alessandro Mussa

Enlarged spinal nerve roots in RASopathies: Report of two cases.

European journal of medical genetics

Avec: Chiara Leoni , Marta Tedesco , Dario Talloa , Tommaso Verdolotti , Roberta Onesimo , Cesare Colosimo , Elisabetta Flex , Alessandro De Luca , Marco Tartaglia , Donato Rigante , Giuseppe Zampino

Children with special health care needs attending emergency department in Italy: analysis of 3479 cases.

Italian journal of pediatrics

Avec: Paola Cianci , Valeria D'Apolito , Alex Moretti , Massimo Barbagallo , Sabrina Paci , Maria Teresa Carbone , Riccardo Lubrano , Antonio Urbino , Carlo Dionisi Vici , Luigi Memo , Giuseppe Zampino , Giancarlo La Marca , Alberto Villani , Giovanni Corsello , Angelo Selicorni , Auteur inconnu , Auteur inconnu , Auteur inconnu

Impairment of motor skills in children with achondroplasia-usefulness of brain and cranio-cervical junction evaluation by quantitative magnetic resonance imaging: a case-control study.

Acta radiologica (Stockholm, Sweden : 1987)

Avec: Rosalinda Calandrelli , Fabio Pilato , Luca Massimi , Roberta Onesimo , Gabriella D'Apolito , Lorenzo Tenore , Domenico Romeo , Chiara Leoni , Giuseppe Zampino , Cesare Colosimo

Characterization of bone homeostasis in individuals affected by cardio-facio-cutaneous syndrome.

American journal of medical genetics. Part A

Avec: Chiara Leoni , Germana Viscogliosi , Roberta Onesimo , Cristian Bisanti , Miriam Massese , Valentina Giorgio , Fabio Corbo , Marta Tedesco , Anna Acampora , Clelia Cipolla , Claudia Dell'Atti , Elisabetta Flex , Jacopo Gervasoni , Aniello Primiano , Donato Rigante , Marco Tartaglia , Giuseppe Zampino

Drooling outcome measures in paediatric disability: a systematic review.

European journal of pediatrics

Avec: E Sforza , R Onesimo , C Leoni , V Giorgio , F Proli , F Notaro , E M Kuczynska , A Cerchiari , A Selicorni , D Rigante , G Zampino

SARS-CoV-2 vaccine humoral response in adults with Down syndrome.

Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases

Avec: Michela Sali , Angelo Carfì , Antonella Di Paola , Maria Pereyra Boza , Giuseppe Zampino , Maurizio Sanguinetti , Francesco Landi , Graziano Onder

Pulmonary artery sling in a 22-month-old boy with 18q deletion syndrome: A rare but possible association.

Echocardiography (Mount Kisco, N.Y.)

Avec: Angelica Bibiana Delogu , Francesco Mariani , Francesca Graziani , Roberta Onesimo , Giancarlo Savino , Chiara Leoni , Giuseppe Zampino

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

Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome.

Cell death & disease

Avec: Elisa Maria Turco , Angela Maria Giada Giovenale , Laura Sireno , Martina Mazzoni , Alessandra Cammareri , Caterina Marchioretti , Laura Goracci , Alessandra Di Veroli , Elena Marchesan , Daniel D'Andrea , Antonella Falconieri , Barbara Torres , Laura Bernardini , Maria Chiara Magnifico , Alessio Paone , Serena Rinaldo , Matteo Della Monica , Stefano D'Arrigo , Diana Postorivo , Anna Maria Nardone , Giuseppe Zampino , Roberta Onesimo , Chiara Leoni , Federico Caicci , Domenico Raimondo , Elena Binda , Laura Trobiani , Antonella De Jaco , Ada Maria Tata , Daniela Ferrari , Francesca Cutruzzolà , Gianluigi Mazzoccoli , Elena Ziviani , Maria Pennuto , Angelo Luigi Vescovi , Jessica Rosati

Comparison between Short Therapy and Standard Therapy in Pediatric Patients Hospitalized with Urinary Tract Infection: A Single Center Retrospective Analysis.

Children (Basel, Switzerland)

Avec: Danilo Buonsenso , Giorgio Sodero , Francesco Mariani , Ilaria Lazzareschi , Francesco Proli , Giuseppe Zampino , Luca Pierantoni , Piero Valentini , Claudia Rendeli

What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review.

Genes

Avec: Elisabetta Sforza , Gaia Margiotta , Valentina Giorgio , Domenico Limongelli , Francesco Proli , Eliza Maria Kuczynska , Chiara Leoni , Cristina De Rose , Valentina Trevisan , Domenico Marco Romeo , Rosalinda Calandrelli , Eugenio De Corso , Luca Massimi , Osvaldo Palmacci , Donato Rigante , Giuseppe Zampino , Roberta Onesimo

Nasal polyposis in pediatric patients with Cornelia de Lange syndrome: endoscopic diagnosis, treatment and follow up in two case reports.

Italian journal of pediatrics

Avec: Roberta Onesimo , Rita De Santis , Chiara Leoni , Mario Rigante , Marco Piastra , Elisabetta Sforza , Angelo Selicorni , Giuseppe Zampino

Bladder and bowel dysfunction in Down syndrome with neural tube defect: case report and review of the literature.

Italian journal of pediatrics

Avec: Roberta Onesimo , Cristiana Agazzi , Luca Massimi , Valentina Giorgio , Chiara Leoni , Giuseppe Zampino , Claudia Rendeli

Long-term effects of GH therapy in adult patients with Prader-Willi syndrome: a longitudinal study.

Frontiers in endocrinology

Avec: Graziano Grugni , Alessandro Sartorio , Davide Soranna , Antonella Zambon , Lucia Grugni , Giuseppe Zampino , Antonino Crinò

Status epilepticus in BRAF-related cardio-facio-cutaneous syndrome: focus on neuroimaging clues to physiopathology.

Epilepsia open

Avec: Elisa Musto , Maria Luigia Gambardella , Marco Perulli , Michela Quintiliani , Chiara Veredice , Tommaso Verdolotti , Giovanna Berté , Chiara Leoni , Roberta Onesimo , Silvia Maria Pulitanò , Marco Tartaglia , Giuseppe Zampino , Ilaria Contaldo , Domenica Immacolata Battaglia

Ligamentous laxity in children with achondroplasia: Prevalence, joint involvement, and implications for early intervention strategies.

European journal of medical genetics

Avec: Domenico Marco Romeo , Virginia Pironi , Chiara Velli , Elisabetta Sforza , Donato Rigante , Valentina Giorgio , Chiara Leoni , Cristina De Rose , Eliza Maria Kuczynska , Domenico Limongelli , Roberta Ruiz , Cristiana Agazzi , Eugenio Mercuri , Giuseppe Zampino , Roberta Onesimo

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

Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder.

Brain : a journal of neurology

Avec: Eleanor G Seaby , Annie Godwin , Géraldine Meyer-Dilhet , Valentine Clerc , Xavier Grand , Tia Fletcher , Laloe Monteiro , Martijn Kerkhofs , Valerio Carelli , Flavia Palombo , Marco Seri , Giulia Olivucci , Mina Grippa , Claudia Ciaccio , Stefano D'Arrigo , Maria Iascone , Marion Bermudez , Jan Fischer , Nataliya Di Donato , Sophie Goesswein , Marco L Leung , Daniel C Koboldt , Cortlandt Myers , Gudny Anna Arnadottir , Kari Stefansson , Patrick Sulem , Ethan M Goldberg , Ange-Line Bruel , Frederic Tran Mau Them , Marjolaine Willems , Hans Tomas Bjornsson , Hakon Bjorn Hognason , Eirny Tholl Thorolfsdottir , Emanuele Agolini , Antonio Novelli , Giuseppe Zampino , Roberta Onesimo , Katherine Lachlan , Diana Baralle , Heidi L Rehm , Anne O'Donnell-Luria , Julien Courchet , Matt Guille , Cyril F Bourgeois , Sarah Ennis

De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.

American journal of human genetics

Avec: Catherine Rodger , Elisabetta Flex , Rachel J Allison , Alba Sanchis-Juan , Marcia A Hasenahuer , Serena Cecchetti , Courtney E French , James R Edgar , Giovanna Carpentieri , Andrea Ciolfi , Francesca Pantaleoni , Alessandro Bruselles , Auteur inconnu , Roberta Onesimo , Giuseppe Zampino , Francesca Marcon , Ester Siniscalchi , Melissa Lees , Deepa Krishnakumar , Emma McCann , Dragana Yosifova , Joanna Jarvis , Michael C Kruer , Warren Marks , Jonathan Campbell , Louise E Allen , Stefano Gustincich , F Lucy Raymond , Marco Tartaglia , Evan Reid

Recommendations for neonatologists and pediatricians working in first level birthing centers on the first communication of genetic disease and malformation syndrome diagnosis: consensus issued by 6 Italian scientific societies and 4 parents' associations.

Italian journal of pediatrics

Avec: Gregorio Serra , Luigi Memo , Alessandra Coscia , Mario Giuffré , Ambra Iuculano , Mariano Lanna , Diletta Valentini , Anna Contardi , Sauro Filippeschi , Tiziana Frusca , Fabio Mosca , Luca A Ramenghi , Corrado Romano , Annalisa Scopinaro , Alberto Villani , Giuseppe Zampino , Giovanni Corsello , Auteur inconnu

Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status.

Orphanet journal of rare diseases

Avec: Chiara Leoni , Domenico Marco Romeo , Michele Pelliccioni , Mariangela Di Già , Roberta Onesimo , Valentina Giorgio , Elisabetta Flex , Marta Tedesco , Marco Tartaglia , Donato Rigante , Antonio Valassina , Giuseppe Zampino

Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts.

Clinical genetics

Avec: Insa Buers , Ivana Persico , Lara Schöning , Yvonne Nitschke , Maja Di Rocco , Angela Loi , Puneet Kaur Sahi , Gulen Eda Utine , Bilge Bayraktar-Tanyeri , Giuseppe Zampino , Giangiorgio Crisponi , Frank Rutsch , Laura Crisponi

First evidence of a therapeutic effect of miransertib in a teenager with Proteus syndrome and ovarian carcinoma.

American journal of medical genetics. Part A

Avec: Chiara Leoni , Giuseppe Gullo , Nicoletta Resta , Anna Fagotti , Roberta Onesimo , Brian Schwartz , Julia Kazakin , Giovanni Abbadessa , John Crown , Conor D Collins , Carlotta Ranieri , Giovanni Scambia , Giuseppe Zampino

Réseau de co-auteurs

Giuseppe Zampino 44 collaborations

Roberta Onesimo 23 collaborations

Chiara Leoni 22 collaborations

Marco Tartaglia 16 collaborations

Valentina Giorgio 8 collaborations

Antonio Novelli 7 collaborations

Donato Rigante 7 collaborations

Maria Cristina Digilio 6 collaborations

Marcello Niceta 5 collaborations

Andrea Ciolfi 5 collaborations

Elisabetta Sforza 5 collaborations

None None 5 collaborations

Stefano Vicari 4 collaborations

Paolo Alfieri 4 collaborations

Francesca Clementina Radio 4 collaborations

Francesco Mariani 4 collaborations

Cristina De Rose 4 collaborations

Cristiana Agazzi 4 collaborations

Francesco Proli 4 collaborations

Valentina Trevisan 4 collaborations

Eliza Maria Kuczynska 4 collaborations

Elisabetta Flex 4 collaborations

Bruno Dallapiccola 3 collaborations

Maria Lisa Dentici 3 collaborations

Cristina Caciolo 3 collaborations

Deny Menghini 3 collaborations

Alberto Villani 3 collaborations

Danilo Buonsenso 3 collaborations

Piero Valentini 3 collaborations

Marialetizia Motta 3 collaborations

Rosalinda Calandrelli 3 collaborations

Cesare Colosimo 3 collaborations

Luigi Memo 3 collaborations

Angelo Selicorni 3 collaborations

Maria Iascone 3 collaborations

Domenico Limongelli 3 collaborations

Marta Tedesco 3 collaborations

Luca Massimi 3 collaborations

Domenico Marco Romeo 3 collaborations

Siddharth Banka 2 collaborations

R Onesimo 2 collaborations

C Leoni 2 collaborations

G Zampino 2 collaborations

Monia Magliozzi 2 collaborations

Anwar Baban 2 collaborations

Giulia Lazzaro 2 collaborations

Francesca Cumbo 2 collaborations

Rossella Capolino 2 collaborations

Isabelle Thiffault 2 collaborations

Simone Pizzi 2 collaborations

Francesco Demaria 2 collaborations

Virginia Pironi 2 collaborations

Riccardo Lubrano 2 collaborations

Giancarlo La Marca 2 collaborations

Fabio Mosca 2 collaborations

Rosa Morello 2 collaborations

Ilaria Lazzareschi 2 collaborations

Angelica Bibiana Delogu 2 collaborations

Jessica Rosati 2 collaborations

Manuela Priolo 2 collaborations

Cecilia Mancini 2 collaborations

Corrado Mammì 2 collaborations

Fabio Pilato 2 collaborations

Gabriella D'Apolito 2 collaborations

Lorenzo Tenore 2 collaborations

Paola Cianci 2 collaborations

Maria Francesca Bedeschi 2 collaborations

Emanuele Agolini 2 collaborations

Paolo Fontana 2 collaborations

Evelina Miele 2 collaborations

Eugenio Mercuri 2 collaborations

Laura Crisponi 2 collaborations

Giangiorgio Crisponi 2 collaborations

Giovanni Battista Ferrero 2 collaborations

Fabio Sirchia 2 collaborations

Tommaso Verdolotti 2 collaborations

Alessandro De Luca 2 collaborations

Giovanni Corsello 2 collaborations

Marco Seri 2 collaborations

Stefano D'Arrigo 2 collaborations

Claudia Rendeli 2 collaborations

Domenico Barbuti 1 collaboration

Neerja Gupta 1 collaboration

Carlos Ruggiero 1 collaboration

Eduardo F Tizzano 1 collaboration

Luitgard Graul-Neumann 1 collaboration

Sabina Barresi 1 collaboration

Gen Nishimura 1 collaboration

Irene Valenzuela 1 collaboration

Fermina López-Grondona 1 collaboration

Paula Fernandez-Alvarez 1 collaboration

Christiane Zweier 1 collaboration

Andreas Tzschach 1 collaboration

Emilia Stellacci 1 collaboration

Andrea Del Fattore 1 collaboration

Ina Knerr 1 collaboration

Roberto Colombo 1 collaboration

Jill Urquhart 1 collaboration

Ana Morais 1 collaboration

Begona Merinero 1 collaboration

Alfonso Oyarzabal 1 collaboration

Belén Pérez 1 collaboration

Simon A Jones 1 collaboration

Rahat Perveen 1 collaboration

Mary A Preece 1 collaboration

Yvonne Rogers 1 collaboration

Eileen P Treacy 1 collaboration

Philip Mayne 1 collaboration

Sabrina MacKinnon 1 collaboration

Evangeline Wassmer 1 collaboration

Wyatt W Yue 1 collaboration

Ian Robinson 1 collaboration

Pilar Rodríguez-Pombo 1 collaboration

Simon E Olpin 1 collaboration

C De Rose 1 collaboration

A B Delogu 1 collaboration

A Battista 1 collaboration

S Veltri 1 collaboration

G De Rosa 1 collaboration

Fanny Kortüm 1 collaboration

Katja Dumic Kubat 1 collaboration

Stephen P Robertson 1 collaboration

Angelica Moresco 1 collaboration

Maria Gabriela Obregon 1 collaboration

Kerstin Kutsche 1 collaboration

Maria C Digilio 1 collaboration

James Fasham 1 collaboration

Siying Lin 1 collaboration

Promita Ghosh 1 collaboration

Emily G Farrow 1 collaboration

Jennifer Kussman 1 collaboration

Dihong Zhou 1 collaboration

Rick Hemming 1 collaboration

Kenneth Zahka 1 collaboration

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