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The NF1 gene contains hotspots for L1 endonuclease-dependent de novo insertion

PLoS genetics, 2011-11, Vol.7 (11), p.e1002371

2011

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Sex-biased dispersal at different geographical scales in a cooperative breeder from fragmented rainforest

PloS one, 2013-08, Vol.8 (8), p.e71624-e71624

2013

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Clinical Implications of Rabphillin-3A-Like Gene Alterations in Breast Cancer

PloS one, 2015-06, Vol.10 (6), p.e0129216-e0129216

2015

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Somatic Mutation Analysis in NF1 Café au lait Spots Reveals Two NF1 Hits in the Melanocytes

Journal of investigative dermatology, 2008-04, Vol.128 (4), p.1050-1053

2008

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Prognostic significance and gene expression profiles of p53 mutations in microsatellite-stable stage III colorectal adenocarcinomas

PloS one, 2012-01, Vol.7 (1), p.e30020-e30020

2012

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AG‐exclusion zone revisited: Lessons to learn from 91 intronic NF1 3′ splice site mutations outside the canonical AG‐dinucleotides

Human mutation, 2020-06, Vol.41 (6), p.1145-1156

2020

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Nest predation in Afrotropical forest fragments shaped by inverse edge effects, timing of nest initiation and vegetation structure

Journal of ornithology, 2014, Vol.155 (2), p.411-420

2014

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Analysis of 200 unrelated individuals with a constitutional NF1 deep intronic pathogenic variant reveals that variants flanking the alternatively spliced NF1 exon 31 [23a] cause a classical neurofibromatosis type 1 phenotype while altering predominantly NF1 isoform type II

Human genetics, 2023-07, Vol.142 (7), p.849-861

2023

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Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

American journal of human genetics, 2018-01, Vol.102 (1), p.69-87

2018

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NF1 Is a Tumor Suppressor in Neuroblastoma that Determines Retinoic Acid Response and Disease Outcome

Cell, 2010-07, Vol.142 (2), p.218-229

2010

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Genetic signature of population fragmentation varies with mobility in seven bird species of a fragmented Kenyan cloud forest

Molecular ecology, 2011-05, Vol.20 (9), p.1829-1844

2011

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Genotype-Phenotype Correlation in Neurofibromatosis Type 1: Evidence for a Mild Phenotype Associated with Splicing Variants Leading to In-Frame Skipping of NF1 Exon 24 19a

Cancers, 2024-06, Vol.16 (13)

2024

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Genotype-Phenotype Correlation in Neurofibromatosis Type 1: Evidence for a Mild Phenotype Associated with Splicing Variants Leading to In-Frame Skipping of NF1 Exon 24 [19a]

Cancers, 2024-06, Vol.16 (13), p.2406

2024

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Complex splicing pattern generates great diversity in human NF1 transcripts

BMC genomics, 2002-05, Vol.3 (1), p.13-13, Article 13

2002

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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

Genetics in medicine, 2019-04, Vol.21 (4), p.867-876

2019

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The Development of Cutaneous Neurofibromas

The American journal of pathology, 2011-02, Vol.178 (2), p.500-505

2011

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Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome

JAMA : the journal of the American Medical Association, 2009-11, Vol.302 (19), p.2111

2009

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Decoding NF1 Intragenic Copy-Number Variations

American journal of human genetics, 2015-08, Vol.97 (2), p.238-249

2015

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Human Myosin V Gene Produces Different Transcripts in a Cell Type-Specific Manner

Biochemical and biophysical research communications, 1998-11, Vol.252 (2), p.329-333

1998

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Alternative outcomes of pathogenic complex somatic structural variations in the genomes of NF1 and NF2 patients

Neurogenetics, 2017-07, Vol.18 (3), p.169-174

2017

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The NF1 gene contains hotspots for LI endonuclease-dependent de novo insertion

PLoS genetics, 2011-11, Vol.7 (11)

2011

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The NF1 Gene Contains Hotspots for L1 Endonuclease-Dependent De Novo Insertion: e1002371

PLoS genetics, 2011-11, Vol.7 (11)

2011

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Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects

Human mutation, 2000-01, Vol.15 (6), p.541-555

2000

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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

Human mutation, 2020-01, Vol.41 (1), p.299-315

2020

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Palindrome-Mediated and Replication-Dependent Pathogenic Structural Rearrangements within the NF1 Gene

Human mutation, 2014-07, Vol.35 (7), p.891-898

2014

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The NF1 gene contains hotspots for L1 endonuclease-dependent de novo insertion

Sex-biased dispersal at different geographical scales in a cooperative breeder from fragmented rainforest

Clinical Implications of Rabphillin-3A-Like Gene Alterations in Breast Cancer

Somatic Mutation Analysis in NF1 Café au lait Spots Reveals Two NF1 Hits in the Melanocytes

Prognostic significance and gene expression profiles of p53 mutations in microsatellite-stable stage III colorectal adenocarcinomas

AG‐exclusion zone revisited: Lessons to learn from 91 intronic NF1 3′ splice site mutations outside the canonical AG‐dinucleotides

Nest predation in Afrotropical forest fragments shaped by inverse edge effects, timing of nest initiation and vegetation structure

Analysis of 200 unrelated individuals with a constitutional NF1 deep intronic pathogenic variant reveals that variants flanking the alternatively spliced NF1 exon 31 [23a] cause a classical neurofibromatosis type 1 phenotype while altering predominantly NF1 isoform type II

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

NF1 Is a Tumor Suppressor in Neuroblastoma that Determines Retinoic Acid Response and Disease Outcome

Genetic signature of population fragmentation varies with mobility in seven bird species of a fragmented Kenyan cloud forest

Genotype-Phenotype Correlation in Neurofibromatosis Type 1: Evidence for a Mild Phenotype Associated with Splicing Variants Leading to In-Frame Skipping of NF1 Exon 24 19a

Genotype-Phenotype Correlation in Neurofibromatosis Type 1: Evidence for a Mild Phenotype Associated with Splicing Variants Leading to In-Frame Skipping of NF1 Exon 24 [19a]

Complex splicing pattern generates great diversity in human NF1 transcripts

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

The Development of Cutaneous Neurofibromas

Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome

Decoding NF1 Intragenic Copy-Number Variations

Human Myosin V Gene Produces Different Transcripts in a Cell Type-Specific Manner

Alternative outcomes of pathogenic complex somatic structural variations in the genomes of NF1 and NF2 patients

The NF1 gene contains hotspots for LI endonuclease-dependent de novo insertion

The NF1 Gene Contains Hotspots for L1 Endonuclease-Dependent De Novo Insertion: e1002371

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects

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

Palindrome-Mediated and Replication-Dependent Pathogenic Structural Rearrangements within the NF1 Gene

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