Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I
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Title
Recurrent
NF1
gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I
Authors
Keywords
-
Journal
GENES CHROMOSOMES & CANCER
Volume -, Issue -, Pages -
Publisher
Wiley
Online
2021-08-24
DOI
10.1002/gcc.22997
References
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Note: Only part of the references are listed.- Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
- (2021) Eric Legius et al. GENETICS IN MEDICINE
- Genotype-Phenotype Correlations in Neurofibromatosis and Their Potential Clinical Use
- (2021) Chetan Bettegowda et al. NEUROLOGY
- Multisystem burden of neurofibromatosis 1 in Denmark: registry- and population-based rates of hospitalizations over the life span
- (2020) Line Kenborg et al. GENETICS IN MEDICINE
- Systems Biology Approaches Reveal Potential Phenotype-Modifier Genes in Neurofibromatosis Type 1
- (2020) Thayne Woycinck Kowalski et al. Cancers
- The Human Phenotype Ontology in 2021
- (2020) Sebastian Köhler et al. NUCLEIC ACIDS RESEARCH
- Pediatric malignancies in neurofibromatosis type 1: a population‐based cohort study
- (2019) Sirkku Peltonen et al. INTERNATIONAL JOURNAL OF CANCER
- Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study
- (2019) D. Gareth R. Evans et al. GENETICS IN MEDICINE
- Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
- (2019) Magdalena Koczkowska et al. HUMAN MUTATION
- Optic Pathway Glioma in Type 1 Neurofibromatosis: Review of Its Pathogenesis, Diagnostic Assessment, and Treatment Recommendations
- (2019) Matteo Cassina et al. Cancers
- Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype–Phenotype Correlations in a Large Independent Cohort
- (2019) Giulia Melloni et al. Cancers
- Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848
- (2018) Magdalena Koczkowska et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Parental age and risk of genetic syndromes predisposing to nervous system tumors: nested case–control study
- (2018) Maral Adel Fahmideh et al. Clinical Epidemiology
- Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation
- (2018) Magdalena Koczkowska et al. GENETICS IN MEDICINE
- Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes
- (2018) Geoffrey J. Maher et al. GENOME RESEARCH
- Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I
- (2017) Francesco Bonatti et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Rectal carcinoma and multiple gastrointestinal stromal tumors (GIST) of the small intestine in a patient with neurofibromatosis type 1: a case report
- (2017) Yuhei Hakozaki et al. World Journal of Surgical Oncology
- Neurofibromatosis type 1
- (2017) David H. Gutmann et al. Nature Reviews Disease Primers
- Distinctive Cancer Associations in Patients With Neurofibromatosis Type 1
- (2016) Elina Uusitalo et al. JOURNAL OF CLINICAL ONCOLOGY
- Classification and characterization of microsatellite instability across 18 cancer types
- (2016) Ronald J Hause et al. NATURE MEDICINE
- The effect of parental age on the presence of de novo mutations - Lessons from neurofibromatosis type I
- (2016) Tom Dubov et al. Molecular Genetics & Genomic Medicine
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Fine mapping of meiotic NAHR-associated crossovers causing largeNF1deletions
- (2015) Morten Hillmer et al. HUMAN MOLECULAR GENETICS
- High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation
- (2015) Kitiwan Rojnueangnit et al. HUMAN MUTATION
- Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population
- (2015) Jia Zhang et al. Scientific Reports
- Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome
- (2014) G. Ponti et al. CLINICAL GENETICS
- Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?
- (2014) Eric Pasmant et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Parental age and Neurofibromatosis Type 1: a report from the NF1 Patient Registry Initiative
- (2014) Qian Liu et al. Familial Cancer
- A framework for the interpretation of de novo mutation in human disease
- (2014) Kaitlin E Samocha et al. NATURE GENETICS
- NF1 Molecular Characterization and Neurofibromatosis Type I Genotype-Phenotype Correlation: The French Experience
- (2013) Audrey Sabbagh et al. HUMAN MUTATION
- Neurofibromatosis type 1: from genotype to phenotype
- (2012) Eric Pasmant et al. JOURNAL OF MEDICAL GENETICS
- Neoplasms Associated with Germline and Somatic NF1 Gene Mutations
- (2012) S. Patil et al. ONCOLOGIST
- LOVD v.2.0: the next generation in gene variant databases
- (2011) Ivo F. A. C. Fokkema et al. HUMAN MUTATION
- NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype
- (2010) Eric Pasmant et al. HUMAN MUTATION
- Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions
- (2010) V.-F. Mautner et al. JOURNAL OF MEDICAL GENETICS
- Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1
- (2009) Audrey Sabbagh et al. HUMAN MOLECULAR GENETICS
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