Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study-Reference-Cited by-同舟云学术

Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study

Published:2020-06 Issue:10 Volume:112 Page:725-731
ISSN:2472-1727
Container-title:Birth Defects Research
language:en
Short-container-title:Birth Defects Research

Author:

Calcagni Giulio¹^ORCID,Gagliostro Giulia²,Limongelli Giuseppe³,Unolt Marta¹,De Luca Enrica²,Digilio Maria C.⁴,Baban Anwar¹,Albanese Sonia B.¹,Ferrero Giovanni B.⁵,Baldassarre Giuseppina⁵,Agnoletti Gabriella⁵,Banaudi Elena⁵,Marek Jan⁶,Kaski Juan P.⁷,Tuo Giulia⁸,Marasini Maurizio⁸,Cairello Francesca⁸,Madrigali Andrea²,Pacileo Giuseppe³,Russo Maria G.³,Milanesi Ornella⁹,Formigari Roberto¹¹⁰,Brighenti Maurizio¹⁰,Ragni Luca¹⁰,Donti Andrea¹⁰,Drago Fabrizio¹,Dallapiccola Bruno⁴,Tartaglia Marco⁴,Marino Bruno²,Versacci Paolo²

Affiliation:

1. Department of Pediatric Cardiology and Cardiac SurgeryBambino Gesù Children's Hospital and Research Institute Rome Italy

2. Pediatric Cardiology, Department of PediatricsObstetrics and Gynecology, Sapienza University of Rome Rome Italy

3. Cardiologia SUN, Monaldi HospitalII University of Naples Naples Italy

4. Genetics and Rare Diseases Research DivisionBambino Gesù Children's Hospital and Research Institute Rome Italy

5. Department of Pediatric and Public Health Sciences, Città della Salute e della ScienzaUniversity of Turin Turin Italy

6. Cardiorespiratory Unit, Great Ormond Street Hospital for Children, London, UKUCL Institute of Cardiovascular Science London UK

7. Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital, London, UKUCL Institute of Cardiovascular Science London UK

8. Cardiovascular DepartmentGiannina Gaslini Institute Genoa Italy

9. Department of Woman and Child's Health, Pediatric CardiologyUniversity of Padova Padua Italy

10. Cardiology and Cardiac SurgerySant'Orsola Malpighi Hospital Bologna Italy

Publisher

Wiley

Subject

Health, Toxicology and Mutagenesis,Developmental Biology,Toxicology,Embryology,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/bdr2.1670

Reference36 articles.

1. Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome

2. Recent advances in RASopathies

3. Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies

4. Coronary artery ectasia in Noonan syndrome: Report of an individual withSOS1mutation and literature review

5. Congenital heart defects in Noonan syndrome and RIT1 mutation

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3. Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: evidence of a multiple-hit mechanism involving HRAS in oncogenic transformation;Frontiers in Genetics;2023-08-10

4. Clinical overview on RASopathies;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2022-11-25

5. The heart in RASopathies;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2022-11-21