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Cognitive Dysfunctions in Intellectual Disabilities: The Contributions of the Ras-MAPK and PI3K-AKT-mTOR Pathways

Annual review of genomics and human genetics, 2017-08, Vol.18 (1), p.115-142

2017

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Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1

The lancet oncology, 2009-05, Vol.10 (5), p.508-515

2009

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Comprehensive targeted next‐generation sequencing approach in the molecular diagnosis of gastrointestinal stromal tumor

Genes chromosomes & cancer, 2021-04, Vol.60 (4), p.239-249

2021

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The characteristics of 76 atypical neurofibromas as precursors to neurofibromatosis 1 associated malignant peripheral nerve sheath tumors

Neuro-oncology (Charlottesville, Va.), 2018-05, Vol.20 (6), p.818-825

2018

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The NF1 Tumor Suppressor Critically Regulates TSC2 and mTOR

Proceedings of the National Academy of Sciences - PNAS, 2005-06, Vol.102 (24), p.8573-8578

2005

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Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors

Genes chromosomes & cancer, 2011-12, Vol.50 (12), p.1021-1032

2011

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Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype

Nature genetics, 2007-09, Vol.39 (9), p.1120-1126

2007

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Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1

The Journal of biological chemistry, 2016-02, Vol.291 (7), p.3124-3134

2016

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Prevalence of neurofibromatosis type 1 in congenital pseudarthrosis of the tibia

European journal of pediatrics, 2016-09, Vol.175 (9), p.1193-1198

2016

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Identification of Codon 146 KRAS Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathies

International journal of molecular sciences, 2022-04, Vol.23 (7), p.4036

2022

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Multidisciplinary Approach to Neurofibromatosis Type 1

1st Edition 2020, 2020

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Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1

Genetics in medicine, 2020-05, Vol.22 (5), p.889-897

2020

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Legius syndrome, an Update. Molecular pathology of mutations in SPRED1

Keio journal of medicine, 2013, Vol.62 (4), p.107-112

2013

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Molecular Dissection of Isolated Disease Features in Mosaic Neurofibromatosis Type 1

American journal of human genetics, 2007-08, Vol.81 (2), p.243-251

2007

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MEK inhibition ameliorates social behavior phenotypes in a Spred1 knockout mouse model for RASopathy disorders

Molecular autism, 2021-07, Vol.12 (1), p.1-53, Article 53

2021

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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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Multitumor Case Series of Germline BRCA1 , BRCA2 and CHEK2 -Mutated Patients Responding Favorably on Immune Checkpoint Inhibitors

Current oncology (Toronto), 2021-08, Vol.28 (5), p.3227-3239

2021

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Genetic basis of neurofibromatosis type 1 and related conditions, including mosaicism

Child's nervous system, 2020-10, Vol.36 (10), p.2285-2295

2020

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Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants

NPJ precision oncology, 2024-05, Vol.8 (1), p.119-119, Article 119

2024

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Pigment epithelium derived factor drives melanocyte proliferation and migration in neurofibromatosis café au lait macules

Skin health and disease, 2024-10, Vol.4 (5), p.e394-n/a

2024

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Ubiquitin ligase HUWE1 regulates axon branching through the Wnt/β-catenin pathway in a Drosophila model for intellectual disability

PloS one, 2013-11, Vol.8 (11), p.e81791-e81791

2013

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EPCAM germline and somatic rearrangements in lynch syndrome: identification of a novel 3′EPCAM deletion

Genes chromosomes & cancer, 2013-09, Vol.52 (9), p.845-854

2013

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Legius Syndrome, an Update.Molecular Pathology of Mutations in SPRED1

The Keio Journal of Medicine, 2013, Vol.62(4), pp.107-112

2013

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Biallelic inactivation of NF1 in a sporadic plexiform neurofibroma

Genes chromosomes & cancer, 2012-09, Vol.51 (9), p.852-857

2012

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Cognitive Dysfunctions in Intellectual Disabilities: The Contributions of the Ras-MAPK and PI3K-AKT-mTOR Pathways

Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1

Comprehensive targeted next‐generation sequencing approach in the molecular diagnosis of gastrointestinal stromal tumor

The characteristics of 76 atypical neurofibromas as precursors to neurofibromatosis 1 associated malignant peripheral nerve sheath tumors

The NF1 Tumor Suppressor Critically Regulates TSC2 and mTOR

Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype

Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1

Prevalence of neurofibromatosis type 1 in congenital pseudarthrosis of the tibia

Identification of Codon 146 KRAS Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathies

Multidisciplinary Approach to Neurofibromatosis Type 1

Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1

Legius syndrome, an Update. Molecular pathology of mutations in SPRED1

Molecular Dissection of Isolated Disease Features in Mosaic Neurofibromatosis Type 1

MEK inhibition ameliorates social behavior phenotypes in a Spred1 knockout mouse model for RASopathy disorders

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

Multitumor Case Series of Germline BRCA1 , BRCA2 and CHEK2 -Mutated Patients Responding Favorably on Immune Checkpoint Inhibitors

Genetic basis of neurofibromatosis type 1 and related conditions, including mosaicism

Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants

Pigment epithelium derived factor drives melanocyte proliferation and migration in neurofibromatosis café au lait macules

Ubiquitin ligase HUWE1 regulates axon branching through the Wnt/β-catenin pathway in a Drosophila model for intellectual disability

Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis

EPCAM germline and somatic rearrangements in lynch syndrome: identification of a novel 3′EPCAM deletion

Legius Syndrome, an Update.Molecular Pathology of Mutations in SPRED1

Biallelic inactivation of NF1 in a sporadic plexiform neurofibroma

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