Publications by authors named "Francesca Romana Lepri"

26Publications

Recurrent prenatal PIEZO1-related lymphatic dysplasia: Expanding molecular and ultrasound findings.

Authors:
Gioia Mastromoro Daniele Guadagnolo Antonella Giancotti Maria Grazia Di Gregorio Enrica Marchionni Flaminia Vena Francesca Romana Lepri Lavinia Bargiacchi Flavia Ventriglia Cira Di Gioia Antonio Novelli Antonio Pizzuti

Eur J Med Genet 2021 Jan 20;64(1):104106. Epub 2020 Nov 20.

Department of Experimental Medicine, Sapienza University of Rome, Policlinico Umberto I Hospital, Rome, Italy.

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January 2021

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

Authors:
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

Diagnostics (Basel) 2020 Aug 12;10(8). Epub 2020 Aug 12.

Department of Paediatric Haematology/Oncology, Cell and Gene Therapy, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.

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August 2020

Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review.

Authors:
Marcello Niceta Maria Lisa Dentici Andrea Ciolfi Romana Marini Sabina Barresi Francesca Romana Lepri Antonio Novelli Enrico Bertini Marco Cappa Maria Cristina Digilio Bruno Dallapiccola Marco Tartaglia

BMC Pediatr 2020 03 12;20(1):120. Epub 2020 Mar 12.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Viale di San Paolo 15, 00146, Rome, Italy.

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March 2020

Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome.

Authors:
Alessandra Pennisi Bruno Maranda Jean-François Benoist Véronique Baudouin Odile Rigal Samia Pichard René Santer Francesca Romana Lepri Antonio Novelli Hélène Ogier de Baulny Carlo Dionisi-Vici Manuel Schiff

J Inherit Metab Dis 2020 05 1;43(3):540-548. Epub 2020 Jan 1.

Reference Centre for Inborn Errors of Metabolism, Robert-Debré University Hospital, Paris, France.

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May 2020

Prevalence, Type, and Molecular Spectrum of Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease.

Authors:
Valentina Pinna Paola Daniele Giulio Calcagni Lucio Mariniello Roberta Criscione Chiara Giardina Francesca Romana Lepri Hossein Hozhabri Angela Alberico Stefania Cavone Annunziata Tina Morella Roberta Mandile Francesca Annunziata Niccolò Di Giosaffatte Maria Cecilia D'Asdia Paolo Versacci Rossella Capolino Pietro Strisciuglio Sandra Giustini Daniela Melis Maria Cristina Digilio Marco Tartaglia Bruno Marino Alessandro De Luca

Genes (Basel) 2019 09 4;10(9). Epub 2019 Sep 4.

UOS Diagnosi Genetica Molecolare, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo (FG), Italy.

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September 2019

SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review.

Authors:
Anwar Baban Nicole Olivini Francesca Romana Lepri Federica Calì Mafalda Mucciolo Maria C Digilio Giulio Calcagni Corrado di Mambro Bruno Dallapiccola Rachele Adorisio Antonio Novelli Fabrizio Drago

Am J Med Genet A 2019 10 1;179(10):2083-2090. Epub 2019 Aug 1.

Pediatric Cardiology and Cardiac Arrhythmias Unit, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy.

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October 2019

Identification of a Novel PROP1 Mutation in a Patient with Combined Pituitary Hormone Deficiency and Enlarged Pituitary.

Authors:
Laura Penta Carla Bizzarri Michela Panichi Antonio Novelli Francesca Romana Lepri Marco Cappa Susanna Esposito

Int J Mol Sci 2019 Apr 16;20(8). Epub 2019 Apr 16.

Pediatric Clinic, Department of Surgical and Biomedical Sciences, Università degli Studi di Perugia, Piazza Lucio Severi 1, 06132 Perugia, Italy.

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April 2019

LTBP2-related "Marfan-like" phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant.

Authors:
Silvia Morlino Viola Alesi Federica Calì Francesca Romana Lepri Aurelio Secinaro Paola Grammatico Antonio Novelli Fabrizio Drago Marco Castori Anwar Baban

Am J Med Genet A 2019 01 18;179(1):104-112. Epub 2018 Dec 18.

Pediatric Cardiology and Arrhythmology Unit, Department of Pediatric Cardiology and Cardiac Surgery, IRCCS-Bambino Gesù Children Hospital and Research Institute, Rome, Italy.

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January 2019

Persistent Hypoglycemia in Children: Targeted Gene Panel Improves the Diagnosis of Hypoglycemia Due to Inborn Errors of Metabolism.

Authors:
Emanuela Ponzi Arianna Maiorana Francesca Romana Lepri Mafalda Mucciolo Michela Semeraro Roberta Taurisano Giorgia Olivieri Antonio Novelli Carlo Dionisi-Vici

J Pediatr 2018 11 5;202:272-278.e4. Epub 2018 Sep 5.

Division of Metabolic Diseases, Department of Pediatric Specialties, Bambino Gesù Children's Hospital, Rome, Italy. Electronic address:

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November 2018

Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11.

Authors:
Margherita Lucia De Bernardi Ivan Ivanovski Stefano Giuseppe Caraffi Ilenia Maini Maria Elisabeth Street Allan Bayat Marcella Zollino Francesca Romana Lepri Maria Gnazzo Edoardo Errichiello Andrea Superti-Furga Livia Garavelli

Am J Med Genet A 2018 09 8;176(9):1991-1995. Epub 2018 Aug 8.

Medical Genetics Unit, Maternal and Child Health Department, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.

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September 2018

Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect.

Authors:
Rosangela Ferese Monica Bonetti Federica Consoli Valentina Guida Anna Sarkozy Francesca Romana Lepri Paolo Versacci Stefano Gambardella Giulio Calcagni Katia Margiotti Francesca Piceci Sparascio Hossein Hozhabri Tommaso Mazza Maria Cristina Digilio Bruno Dallapiccola Marco Tartaglia Bruno Marino Jeroen den Hertog Alessandro De Luca

Hum Mutat 2018 10 30;39(10):1428-1441. Epub 2018 Jul 30.

Molecular Genetics Unit, Casa Sollievo della Sofferenza Hospital, IRCCS, 71013, San Giovanni Rotondo, Italy.

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October 2018

Neurobehavioral features in individuals with Kabuki syndrome.

Authors:
Cristina Caciolo Paolo Alfieri Giorgia Piccini Maria Cristina Digilio Francesca Romana Lepri Marco Tartaglia Deny Menghini Stefano Vicari

Mol Genet Genomic Med 2018 05 13;6(3):322-331. Epub 2018 Mar 13.

Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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May 2018

Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.

Authors:
Francesca Romana Lepri Dario Cocciadiferro Bartolomeo Augello Paolo Alfieri Valentina Pes Alessandra Vancini Cristina Caciolo Gabriella Maria Squeo Natascia Malerba Iolanda Adipietro Antonio Novelli Stefano Sotgiu Renzo Gherardi Maria Cristina Digilio Bruno Dallapiccola Giuseppe Merla

Int J Mol Sci 2017 Dec 28;19(1). Epub 2017 Dec 28.

Division of Medical Genetics, IRCSS Casa Sollievo della Sofferenza Hospital, viale Cappuccini, 71013 San Giovanni Rotondo, Italy.

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December 2017

Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum.

Authors:
Francesca Pantaleoni Dorit Lev Ion C Cirstea Marialetizia Motta Francesca Romana Lepri Lisabianca Bottero Serena Cecchetti Ilan Linger Stefano Paolacci Elisabetta Flex Antonio Novelli Alessandra Carè Mohammad R Ahmadian Emilia Stellacci Marco Tartaglia

Hum Mutat 2017 07 3;38(7):798-804. Epub 2017 May 3.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.

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July 2017

Congenital heart defects in Noonan syndrome and RIT1 mutation.

Authors:
Giulio Calcagni Anwar Baban Francesca Romana Lepri Bruno Marino Marco Tartaglia Maria Cristina Digilio

Genet Med 2016 12 29;18(12):1320. Epub 2016 Sep 29.

Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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December 2016

Metastatic Group 3 Medulloblastoma in a Patient With Tuberous Sclerosis Complex: Case Description and Molecular Characterization of the Tumor.

Authors:
Romina Moavero Valentina Folgiero Andrea Carai Evelina Miele Elisabetta Ferretti Agnese Po Francesca Diomedi Camassei Francesca Romana Lepri Federico Vigevano Paolo Curatolo Massimiliano Valeriani Giovanna S Colafati Franco Locatelli Assunta Tornesello Angela Mastronuzzi

Pediatr Blood Cancer 2016 Apr 2;63(4):719-22. Epub 2015 Dec 2.

Department of Hematology/Oncology and Stem Cell Transplantation, Bambino Gesù Children's Hospital, , IRCCS, Rome, Italy.

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April 2016

Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma.

Authors:
Simona Grotta Gemma D'Elia Rossana Scavelli Silvia Genovese Cecilia Surace Pietro Sirleto Raffaele Cozza Antonino Romanzo Maria Antonietta De Ioris Paola Valente Anna Cristina Tomaiuolo Francesca Romana Lepri Tiziana Franchin Laura Ciocca Serena Russo Franco Locatelli Adriano Angioni

BMC Cancer 2015 Nov 4;15:841. Epub 2015 Nov 4.

Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00165, Rome, Italy.

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November 2015

Spinal ependymoma in a patient with Kabuki syndrome: a case report.

Authors:
Davide Roma Paolo Palma Rossella Capolino Lorenzo Figà-Talamanca Francesca Diomedi-Camassei Francesca Romana Lepri Maria Cristina Digilio Carlo Efisio Marras Raffaella Messina Andrea Carai Franco Randi Angela Mastronuzzi

BMC Med Genet 2015 Sep 5;16:80. Epub 2015 Sep 5.

Department of Hematology/Oncology and Stem Cell Transplantation, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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September 2015

CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon.

Authors:
Elisa Pisaneschi Pietro Sirleto Francesca Romana Lepri Silvia Genovese Maria Lisa Dentici Stefano Petrocchi Adriano Angioni Maria Cristina Digilio Bruno Dallapiccola

BMC Med Genet 2015 Sep 3;16:78. Epub 2015 Sep 3.

Scientific Directorate, Bambino Gesù Paediatric Hospital, IRCCS, Rome, Italy.

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September 2015

Borderline cognitive level in a family with Bazex-Dupré-Christol syndrome.

Authors:
Michaela Veronika Gonfiantini Marco Armando Maria Laura Pucciarini Marina Macchiaiolo Paola Sabrina Buonuomo Andrea Diociaiuti Francesca Romana Lepri Pietro Sirleto Stefano Vicari Andrea Bartuli

Am J Med Genet A 2015 Jul 28;167(7):1637-43. Epub 2015 Mar 28.

Department of Pediatric Medicine, Rare Diseases and Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

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July 2015