Neurofibromatosis 1

Neurofibromatosis 1 (NF1), also known as von Recklinghausen disease, is an autosomal dominant condition caused by mutations in the NF1 gene. Here is the latest research.

July 2, 2020

Current status of MEK inhibitors in the treatment of plexiform neurofibromas

Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery
Andrea M GrossBrigitte C Widemann
July 3, 2020

Are the autism symptoms in neurofibromatosis type 1 actually autism?

Developmental Medicine and Child Neurology
Bonita P Klein-Tasman
June 22, 2020

Spinal manifestations of Neurofibromatosis type 1

Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery
Ben ShoftyShlomi Constantini
June 27, 2020
Case Report

Retinal detachment with spontaneous dialysis of the ora serrata in a 13-year-old child with neurofibromatosis type 1: A case report

Indian Journal of Ophthalmology
Rodrigo Clemente-TomasAntonio M Duch-Samper
June 26, 2020

Craniofacial bone alterations in patients with neurofibromatosis type 1

Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery
Julie Chauvel-PicardFederico Di Rocco
June 28, 2020

Hypopigmented macules in Neurofibromatosis type 1: a case control study

Journal of the American Academy of Dermatology
Francisco Javier García-MartínezAngela Hernández-Martín
June 23, 2020

NF1 microdeletion syndrome: a phenotypical characterization of a rare case of neurofibromatosis type 1

Acta Dermatovenerologica Alpina, Pannonica, Et Adriatica
Jorge LopesEduarda Osório Ferreira
July 3, 2020

Epilepsy in NF1: a systematic review of the literature

Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery
Pia BernardoClaudia Santoro
June 25, 2020

Loss of efficacy of subsequent non-surgical therapy after primary treatment failure in pediatric low-grade glioma patients - report from the German SIOP-LGG 2004 cohort

International Journal of Cancer. Journal International Du Cancer
Daniela KandelsAstrid Gnekow
June 26, 2020

Lung-only melanoma: UV mutational signature supports origin from occult cutaneous primaries and argues against the concept of primary pulmonary melanoma

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc
Chen YangNatasha Rekhtman
July 1, 2020
Review
Open Access

From Genes to -Omics: The Evolving Molecular Landscape of Malignant Peripheral Nerve Sheath Tumor

Genes
Kathryn M LembergChristine A Pratilas
July 6, 2020

Ante-natal counseling in phacomatoses

Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery
Dana Brabbing-Goldstein, Shay Ben-Shachar
June 21, 2020
Open Access

A clinically and genomically annotated nerve sheath tumor biospecimen repository

Scientific Data
Kai PollardChristine A Pratilas
July 1, 2020

A molecular basis for neurofibroma-associated skeletal manifestations in NF1

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Yun MaFlorent Elefteriou
June 24, 2020

Late morbidity and mortality in adult survivors of childhood glioma with neurofibromatosis type 1: report from the Childhood Cancer Survivor Study

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Peter de BlankKevin R Krull
July 7, 2020

Challenges of screening germline predispositions in children

[Rinshō ketsueki] The Japanese journal of clinical hematology
Atsushi Manabe

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