| scholarly article | Q13442814 |
| case report | Q2782326 |
| P50 | author | Valeria Borrelli | Q88053393 |
| P2093 | author name string | Chiara Di Resta | |
| Luigi Anastasia | |||
| Michelle M Monasky | |||
| Andrea Ghiroldi | |||
| Carlo Pappone | |||
| Gabriele Vicedomini | |||
| Giuseppe Ciconte | |||
| Vincenzo Santinelli | |||
| Maurizio Ferrari | |||
| Sara Benedetti | |||
| Luigi Giannelli | |||
| Massimo Saviano | |||
| Alberto Pollina | |||
| Emanuele Micaglio | |||
| Manuel Conti | |||
| Federica Giordano | |||
| Valerio Mecarocci | |||
| Sara D'Imperio | |||
| Simonetta Crisà | |||
| P2860 | cites work | Inherited ion channel diseases: a brief review | Q28071914 |
| Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family | Q33147123 | ||
| Unique clinical characteristics and SCN5A mutations in patients with Brugada syndrome in Taiwan | Q33165990 | ||
| The Brugada Syndrome - From Gene to Therapy | Q33168119 | ||
| An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing | Q33655317 | ||
| Plexiform neurofibromas | Q33723866 | ||
| Neurofibromatosis type 1 and childhood cancer | Q34357450 | ||
| SCN5A mutations in Brugada syndrome are associated with increased cardiac dimensions and reduced contractility | Q34372532 | ||
| J-Wave syndromes expert consensus conference report: Emerging concepts and gaps in knowledge | Q34534329 | ||
| Lethal manifestations of neurofibromatosis type 1 in childhood. | Q34728763 | ||
| The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. | Q34741372 | ||
| Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force | Q34785638 | ||
| Genetic considerations in recurrent pregnancy loss | Q35164281 | ||
| Pulmonary hypertension in patients with neurofibromatosis type I. | Q51472493 | ||
| Copy Number Variations of SCN5A in Brugada Syndrome. SCN5A CNVs in BrS. | Q51735488 | ||
| Expression of two new protein isoforms of the neurofibromatosis type 1 gene product, neurofibromin, in muscle tissues. | Q52209714 | ||
| "Examining RAS pathway rewiring with a chemically inducible activator of RAS". | Q52326616 | ||
| Calcium in Brugada Syndrome: Questions for Future Research | Q57169914 | ||
| Cardiac findings in an individual with neurofibromatosis 1 and sudden death | Q57386756 | ||
| High-throughput genetic characterization of a cohort of Brugada syndrome patients | Q58880781 | ||
| Heart rhythm in patients with neurofibromatosis type 1 | Q71502098 | ||
| Neurofibromin modulation of ras activity is required for normal endocardial-mesenchymal transformation in the developing heart | Q77431689 | ||
| Sudden cardiac death in young children with neurofibromatosis type 1 | Q79344316 | ||
| The occurrence of Brugada syndrome and isolated cardiac conductive disease in the same family could be due to a single SCN5A mutation or to the accidental association of both diseases | Q80399937 | ||
| Giant Chiari network mimics intracardiac tumor in a case of neurofibromatosis | Q80814602 | ||
| Prevention of ventricular fibrillation episodes in Brugada syndrome by catheter ablation over the anterior right ventricular outflow tract epicardium | Q83609756 | ||
| Neurofibromatosis type 1 | Q89348728 | ||
| Cardiac electrophysiological substrate underlying the ECG phenotype and electrogram abnormalities in Brugada syndrome patients | Q35674798 | ||
| Vascular abnormalities in patients with neurofibromatosis syndrome type I: clinical spectrum, management, and results | Q36903322 | ||
| Cardiomyocyte-specific loss of neurofibromin promotes cardiac hypertrophy and dysfunction | Q37353815 | ||
| A nonsense SCN5A mutation associated with Brugada-type electrocardiogram and intraventricular conduction defects | Q37355341 | ||
| Neurofibromatosis type 1 revisited | Q37360771 | ||
| Neurofibromatosis type 1: diagnosis and recent advances | Q38089870 | ||
| Endocrine cancer syndromes: an update | Q38253070 | ||
| Electrical Substrate Elimination in 135 Consecutive Patients With Brugada Syndrome. | Q38376854 | ||
| Pathogenesis and management of Brugada syndrome | Q38954679 | ||
| Histopathologic Evaluation of Atypical Neurofibromatous Tumors and Their Transformation into Malignant Peripheral Nerve Sheath Tumor in Neurofibromatosis 1 Patients - A Consensus Overview. | Q40182996 | ||
| Neurofibromatosis type 1 and cardiac manifestations | Q41010953 | ||
| The heart in neurofibromatosis type 1: an echocardiographic study | Q44281351 | ||
| Cognitive and Behavioral Disorders in Children with Neurofibromatosis Type 1. | Q47150280 | ||
| Infant sudden death: Mutations responsible for impaired Nav1.5 channel trafficking and function | Q47746225 | ||
| Early cardiac morphologic and functional changes in neurofibromatosis type 1 hypertensives: an echocardiographic and tissue Doppler study | Q47799756 | ||
| Occurrence of multiple Cerebral Cavernous Malformations in a patient with Neurofibromatosis type 1. | Q48317619 | ||
| P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
| P6216 | copyright status | copyrighted | Q50423863 |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | Brugada syndrome | Q599683 |
| P304 | page(s) | 50 | |
| P577 | publication date | 2019-02-15 | |
| P1433 | published in | Frontiers in Genetics | Q2499875 |
| P1476 | title | SCN5A Nonsense Mutation and NF1 Frameshift Mutation in a Family With Brugada Syndrome and Neurofibromatosis | |
| P478 | volume | 10 |
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