ArticleGenes2019
Prevalence, Type, and Molecular Spectrum of
Article in Genes, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
17 citing papers in PubMed.
- Cardiac involvement in neurofibromatosis type 1: real-world baseline and follow-up findings from a tertiary single-center cohort.European journal of pediatrics · 2026Article
- Cardiac Monitoring for Patients Undergoing Treatment With MEK Inhibitor Monotherapy.Current oncology reports · 2026Review
- Unraveling cardiac anomalies in pediatric neurofibromatosis type 1: insights and implications.European journal of pediatrics · 2026Article
- NF1 with Multiple Cardiac Structural Abnormalities Leading to Cerebral Infarction.Diagnostics (Basel, Switzerland) · 2026Article
- Unveiling the complexity of neurofibromatosis type 1: Innovations in genetic understanding and clinical management. A narrative review.Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia · 2025Review
- Refined genotype-phenotype correlations in neurofibromatosis type 1 patients withJournal of medical genetics · 2025Article
- Neurofibromatosis Type 1 : A General Review.Journal of Korean Neurosurgical Society · 2025Article
- Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature review.Orphanet journal of rare diseases · 2025Review
- Basilar invagination and atlantoaxial dislocation as a complication of severe dystrophic cervical kyphosis correction in neurofibromatosis type 1: Report of a rare case and review of literature.International journal of surgery case reports · 2024Article
- [Progress and prospects in diagnosis and treatment of neurofibromatosis type 1].Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgery · 2024Review
- Cardiac screening in pediatric patients with neurofibromatosis type 1: similarities with Noonan syndrome?The international journal of cardiovascular imaging · 2024Article
- Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype-Phenotype Correlations.Cancers · 2023Review
- RASopathies and cardiac manifestations.Frontiers in cardiovascular medicine · 2023Review
- Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases.JAMA oncology · 2022Article
- Severe Phenotype in Patients with Large Deletions ofCancers · 2021Article
- Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study.Cancers · 2021Article
- First Case of Tricuspid Valve Surgery in a Neurofibromatosis Type 1 Patient.Heart views : the official journal of the Gulf Heart AssociationArticle
Corrections and comments
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Authors and funding
24 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The aim of this study was to assess the prevalence and type of congenital heart disease (CHD) and the associated mutation spectrum in a large series of patients with neurofibromatosis type 1 (NF1), and correlate the mutation type with the presence and subgroups of cardiac defects. The study cohort included 493 individuals with molecularly confirmed diagnosis of NF1 for whom cardiac evaluation data were available. CHD was reported in 62/493 (12.6%) patients. Among these patients, 23/62 (37.1%) had pulmonary valve stenosis/dysplasia, 20/62 (32.3%) had mitral valve anomalies, and 10/62 (16.1%) had septal defects. Other defects occurred as rare events. In this NF1 subcohort, three subjects carried a whole-gene deletion, while 59 were heterozygous for an intragenic mutation. A significantly increased prevalence of non-truncating intragenic mutations was either observed in individuals with CHD (22/59, 37.3%) or with pulmonary valve stenosis (13/20, 65.0%), when compared to individuals without CHD (89/420, 21.2%) (
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.