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A Circadian Output in Drosophila Mediated by Neurofibromatosis-1 and Ras/MAPK

Science (American Association for the Advancement of Science), 2001-09, Vol.293 (5538), p.2251-2256

2001

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Neurofibromatosis 1 (von Recklinghausen Disease)

The Keio Journal of Medicine, 2023, pp.2023-0013-IR

Yoshida, Yuichi

2023

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Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical NF1 Microdeletions

Frontiers in genetics, 2021-06, Vol.12, p.673025-673025

2021

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Identification of an NF1 Microdeletion with Optical Genome Mapping

International journal of molecular sciences, 2023-09, Vol.24 (17), p.13580

2023

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Neurofibromatosis type 1 associated low grade gliomas: A comparison with sporadic low grade gliomas

Critical reviews in oncology/hematology, 2016-08, Vol.104, p.30-41

2016

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Evaluation of Molecular and Clinical Findings in Children With Neurofibromatosis Type 1: Identification of 15 Novel Variants

Pediatric neurology, 2023-12, Vol.149, p.69-74

2023

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Impacts of NF1 Gene Mutations and Genetic Modifiers in Neurofibromatosis Type 1

Frontiers in neurology, 2021-09, Vol.12, p.704639-704639

2021

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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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Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory

European journal of medical genetics, 2023-11, Vol.66 (11), p.104847-104847, Article 104847

2023

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Neurofibromatosis Type I and autism spectrum disorder caused by deletion of the NF1 gene: A case report

Asian journal of psychiatry, 2023-06, Vol.84, p.103544, Article 103544

2023

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Somatic NF1 mutations in pituitary adenomas: Report of two cases

Cancer genetics, 2021-08, Vol.256-257, p.26-30

2021

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Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I

Genes chromosomes & cancer, 2022-01, Vol.61 (1), p.10-21

2022

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Gamma knife radiotherapy in a neurofibromatosis type 1 Chinese pedigrees with NF1 gene frameshift mutation: A case report

Medicine (Baltimore), 2022-07, Vol.101 (27), p.e29280-e29280

2022

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Lymphomas in patients with neurofibromatosis type 1 (NF1): another malignancy in the NF1 syndrome?

Pathology, 2023-04, Vol.55 (3), p.302-314

2023

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S100 and CD34 positive spindle cell tumor with prominent perivascular hyalinization and a novel NCOA4‐RET fusion

Genes chromosomes & cancer, 2019-09, Vol.58 (9), p.680-685

2019

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Clinical features and disease severity in patients with mosaic neurofibromatosis type 1: a single-center study and literature review

Orphanet journal of rare diseases, 2021-04, Vol.16 (1), p.180-180, Article 180

2021

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NF1 loss of function as an alternative initiating event in pancreatic ductal adenocarcinoma

Cell reports (Cambridge), 2022-11, Vol.41 (6), p.111623-111623, Article 111623

2022

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NF1-Associated Inflammatory Polyp of the Colon: First Report of a Sporadic Case

International journal of surgical pathology, 2022-10, Vol.30 (7), p.823-827

2022

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Gene therapy strategies and prospects for neurofibromatosis type 1

Zhongguo xiu fu chong jian wai ke za zhi, 2024-01, Vol.38 (1), p.1-8

2024

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Neurofibromatosis type 1: Clinical characteristics and mutation spectrum in a North Indian cohort

Heliyon, 2024-01, Vol.10 (1), p.e23685-e23685, Article e23685

2024

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Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1

Italian journal of pediatrics, 2018-04, Vol.44 (1), p.45-45, Article 45

2018

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NF1 microdeletion syndrome: case report of two new patients

Italian journal of pediatrics, 2019-11, Vol.45 (1), p.138-138, Article 138

2019

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A novel stop-gain NF1 variant in neurofibromatosis type 1 and bilateral optic atrophy without optic gliomas

Ophthalmic genetics, 2024-04, Vol.45 (2), p.186-192

2024

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Gene Mutations in the Succinate Dehydrogenase Subunit SDHB Cause Susceptibility to Familial Pheochromocytoma and to Familial Paraganglioma

American journal of human genetics, 2001-07, Vol.69 (1), p.49-54

2001

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A Rare Case Report of Neonatal Neurofibromatosis Type 1 Presented with Giant Faciocervical Mass and Complicated with HIE

International medical case reports journal, 2023-12, Vol.16, p.833-839

2023

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A Circadian Output in Drosophila Mediated by Neurofibromatosis-1 and Ras/MAPK

Neurofibromatosis 1 (von Recklinghausen Disease)

Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical NF1 Microdeletions

Identification of an NF1 Microdeletion with Optical Genome Mapping

Neurofibromatosis type 1 associated low grade gliomas: A comparison with sporadic low grade gliomas

Evaluation of Molecular and Clinical Findings in Children With Neurofibromatosis Type 1: Identification of 15 Novel Variants

Impacts of NF1 Gene Mutations and Genetic Modifiers in Neurofibromatosis Type 1

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

Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory

Neurofibromatosis Type I and autism spectrum disorder caused by deletion of the NF1 gene: A case report

Somatic NF1 mutations in pituitary adenomas: Report of two cases

Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I

Gamma knife radiotherapy in a neurofibromatosis type 1 Chinese pedigrees with NF1 gene frameshift mutation: A case report

Lymphomas in patients with neurofibromatosis type 1 (NF1): another malignancy in the NF1 syndrome?

S100 and CD34 positive spindle cell tumor with prominent perivascular hyalinization and a novel NCOA4‐RET fusion

Clinical features and disease severity in patients with mosaic neurofibromatosis type 1: a single-center study and literature review

NF1 loss of function as an alternative initiating event in pancreatic ductal adenocarcinoma

NF1-Associated Inflammatory Polyp of the Colon: First Report of a Sporadic Case

Gene therapy strategies and prospects for neurofibromatosis type 1

Neurofibromatosis type 1: Clinical characteristics and mutation spectrum in a North Indian cohort

Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1

NF1 microdeletion syndrome: case report of two new patients

A novel stop-gain NF1 variant in neurofibromatosis type 1 and bilateral optic atrophy without optic gliomas

Gene Mutations in the Succinate Dehydrogenase Subunit SDHB Cause Susceptibility to Familial Pheochromocytoma and to Familial Paraganglioma

A Rare Case Report of Neonatal Neurofibromatosis Type 1 Presented with Giant Faciocervical Mass and Complicated with HIE

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