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Emerging therapeutic targets for neurofibromatosis type 1

Expert opinion on therapeutic targets, 2018-05, Vol.22 (5), p.419-437

2018

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The NF1 somatic mutational landscape in sporadic human cancers

Human genomics, 2017-06, Vol.11 (1), p.13-13, Article 13

2017

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Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study

European journal of human genetics : EJHG, 2022-03, Vol.30 (3), p.291-297

2022

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Management of neurofibromatosis type 1-associated plexiform neurofibromas

Neuro-oncology (Charlottesville, Va.), 2022-11, Vol.24 (11), p.1827-1844

2022

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Confirmation of mutation landscape of NF1‐associated malignant peripheral nerve sheath tumors

Genes chromosomes & cancer, 2017-05, Vol.56 (5), p.421-426

2017

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Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review

BMC medical genomics, 2024-03, Vol.17 (1), p.73-73, Article 73

2024

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Recommendations for the collection and annotation of biosamples for analysis of biomarkers in neurofibromatosis and schwannomatosis clinical trials

Clinical trials (London, England), 2024-02, Vol.21 (1), p.40-50

2024

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High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect

Human molecular genetics, 2022-03, Vol.31 (5), p.748-760

2022

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Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association

Cancer research (Chicago, Ill.), 2009-09, Vol.69 (18), p.7393-7401

2009

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High-Resolution DNA Copy Number Profiling of Malignant Peripheral Nerve Sheath Tumors Using Targeted Microarray-Based Comparative Genomic Hybridization

Clinical cancer research, 2008-02, Vol.14 (4), p.1015-1024

2008

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Dystrophins, utrophins, and associated scaffolding complexes: role in mammalian brain and implications for therapeutic strategies

BioMed research international, 2010-01, Vol.2010, p.849426

2010

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Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?

Human genomics, 2012-08, Vol.6 (1), p.12-12

2012

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Large-scale molecular comparison of human schwann cells to malignant peripheral nerve sheath tumor cell lines and tissues

Cancer research (Chicago, Ill.), 2006-03, Vol.66 (5), p.2584-2591

2006

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Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene

Human mutation, 2012-12, Vol.33 (12), p.1687-1696

2012

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NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes

American journal of human genetics, 2003-01, Vol.72 (1), p.132-143

2003

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Genetic basis of tumorigenesis in NF1 malignant peripheral nerve sheath tumors

Frontiers in bioscience (Landmark. Print), 2011-01, Vol.16 (3), p.937-951

Upadhyaya, Meena

2011

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Molecular evolution of a neurofibroma to malignant peripheral nerve sheath tumor (MPNST) in an NF1 patient: correlation between histopathological, clinical and molecular findings

Journal of cancer research and clinical oncology, 2010-12, Vol.136 (12), p.1869-1880

2010

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An emerging role for microRNAs in NF1 tumorigenesis

Human genomics, 2012-11, Vol.6 (1), p.23-23, Article 23

2012

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Neurofibromatosis 2011: a report of the Children’s Tumor Foundation Annual Meeting

Acta neuropathologica, 2012-03, Vol.123 (3), p.369-380

2012

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Molecular heterogeneity in malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1

Human genomics, 2012-09, Vol.6 (1), p.18-18, Article 18

2012

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Blind Analysis of Denaturing High-Performance Liquid Chromatography as a Tool for Mutation Detection

Genomics (San Diego, Calif.), 1998-08, Vol.52 (1), p.44-49

1998

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PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies

Nature (London), 2014-10, Vol.514 (7521), p.247-251

2014

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Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array

Human mutation, 2008-03, Vol.29 (3), p.398-408

2008

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Neurofibromatosis type 1: diagnosis and recent advances

Expert opinion on medical diagnostics, 2010-07, Vol.4 (4), p.307-322

Upadhyaya, Meena

2010

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Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Genetics in medicine, 2021-08, Vol.23 (8), p.1506-1513

2021

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Emerging therapeutic targets for neurofibromatosis type 1

The NF1 somatic mutational landscape in sporadic human cancers

Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study

Management of neurofibromatosis type 1-associated plexiform neurofibromas

Confirmation of mutation landscape of NF1‐associated malignant peripheral nerve sheath tumors

Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review

Recommendations for the collection and annotation of biosamples for analysis of biomarkers in neurofibromatosis and schwannomatosis clinical trials

High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect

Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association

High-Resolution DNA Copy Number Profiling of Malignant Peripheral Nerve Sheath Tumors Using Targeted Microarray-Based Comparative Genomic Hybridization

Dystrophins, utrophins, and associated scaffolding complexes: role in mammalian brain and implications for therapeutic strategies

Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?

Large-scale molecular comparison of human schwann cells to malignant peripheral nerve sheath tumor cell lines and tissues

Assessment of the potential pathogenicity of missense mutations identified in the GTPase-activating protein (GAP)-related domain of the neurofibromatosis type-1 (NF1) gene

NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes

Genetic basis of tumorigenesis in NF1 malignant peripheral nerve sheath tumors

Molecular evolution of a neurofibroma to malignant peripheral nerve sheath tumor (MPNST) in an NF1 patient: correlation between histopathological, clinical and molecular findings

An emerging role for microRNAs in NF1 tumorigenesis

Neurofibromatosis 2011: a report of the Children’s Tumor Foundation Annual Meeting

Molecular heterogeneity in malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1

Blind Analysis of Denaturing High-Performance Liquid Chromatography as a Tool for Mutation Detection

PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies

Profiling of copy number variations (CNVs) in healthy individuals from three ethnic groups using a human genome 32 K BAC-clone-based array

Neurofibromatosis type 1: diagnosis and recent advances

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

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