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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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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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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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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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Genetic and phenotypic characterization of tumor cells derived from malignant peripheral nerve sheath tumors of neurofibromatosis type 1 patients

Neurobiology of disease, 2004-06, Vol.16 (1), p.85-91

2004

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Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define premalignant neurofibromatosis type 1-associated atypical neurofibromas

Neuro-oncology (Charlottesville, Va.), 2019-08, Vol.21 (8), p.981-992

2019

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NF1 patient missense variants predict a role for ATM in modifying neurofibroma initiation

Acta neuropathologica, 2020-01, Vol.139 (1), p.157-174

2020

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Neurofibromatosis type 1‐related pseudarthrosis: Beyond the pseudarthrosis site

Human mutation, 2019-10, Vol.40 (10), p.1760-1767

2019

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Mutational spectrum by phenotype: panel‐based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café‐au‐lait macules

Clinical genetics, 2020-02, Vol.97 (2), p.264-275

2020

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Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas

European journal of human genetics : EJHG, 2012-04, Vol.20 (4), p.411-419

2012

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Recurrent Multilocular Mandibular Giant Cell Granuloma in Neurofibromatosis Type 1: Evidence for Second Hit Mutation of NF1 Gene in the Jaw Lesion and Treatment with Curettage and Bone Substitute Materials

Journal of cranio-maxillo-facial surgery, 2016-08, Vol.44 (8), p.1054-1060

2016

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Diagnosis in NF1, Old and New

Multidisciplinary Approach to Neurofibromatosis Type 1, 2020, p.35-44

2020

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Proposal of New Diagnostic Criteria

Multidisciplinary Approach to Neurofibromatosis Type 1, 2020, p.309-313

2020

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Medical Follow-Up in Neurofibromatosis Type 1

Multidisciplinary Approach to Neurofibromatosis Type 1, 2020, p.273-304

2020

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Brief Notes on Pregnancy, Prenatal Diagnosis, and Preimplantation Procedures in NF1

Multidisciplinary Approach to Neurofibromatosis Type 1, 2020, p.305-308

2020

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Mosaic NF1

Multidisciplinary Approach to Neurofibromatosis Type 1, 2020, p.219-231

2020

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Genomics of Peripheral Nerve Sheath Tumors Associated with Neurofibromatosis Type 1

Multidisciplinary Approach to Neurofibromatosis Type 1, 2020, p.117-147

2020

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Ocular Manifestations in Neurofibromatosis Type 1

Multidisciplinary Approach to Neurofibromatosis Type 1, 2020, p.71-84

2020

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Diagnosis and Management of Benign Nerve Sheath Tumors in NF1: Evolution from Plexiform to Atypical Neurofibroma and Novel Treatment Approaches

Multidisciplinary Approach to Neurofibromatosis Type 1, 2020, p.165-179

2020

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

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

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

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

Genetic and phenotypic characterization of tumor cells derived from malignant peripheral nerve sheath tumors of neurofibromatosis type 1 patients

Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define premalignant neurofibromatosis type 1-associated atypical neurofibromas

NF1 patient missense variants predict a role for ATM in modifying neurofibroma initiation

Neurofibromatosis type 1‐related pseudarthrosis: Beyond the pseudarthrosis site

Mutational spectrum by phenotype: panel‐based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café‐au‐lait macules

Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder

Exploring the somatic NF1 mutational spectrum associated with NF1 cutaneous neurofibromas

Recurrent Multilocular Mandibular Giant Cell Granuloma in Neurofibromatosis Type 1: Evidence for Second Hit Mutation of NF1 Gene in the Jaw Lesion and Treatment with Curettage and Bone Substitute Materials

Diagnosis in NF1, Old and New

Proposal of New Diagnostic Criteria

Medical Follow-Up in Neurofibromatosis Type 1

Brief Notes on Pregnancy, Prenatal Diagnosis, and Preimplantation Procedures in NF1

Mosaic NF1

Genomics of Peripheral Nerve Sheath Tumors Associated with Neurofibromatosis Type 1

Ocular Manifestations in Neurofibromatosis Type 1

Diagnosis and Management of Benign Nerve Sheath Tumors in NF1: Evolution from Plexiform to Atypical Neurofibroma and Novel Treatment Approaches

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