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Neurofibromatosis type 1
DH Gutmann, RE Ferner, RH Listernick… - Nature Reviews …, 2017 - nature.com
Neurofibromatosis type 1 is a complex autosomal dominant disorder caused by germline
mutations in the NF1 tumour suppressor gene. Nearly all individuals with neurofibromatosis …
mutations in the NF1 tumour suppressor gene. Nearly all individuals with neurofibromatosis …
Epidemiological surveys of ASD: advances and remaining challenges
E Fombonne, H MacFarlane, AC Salem - Journal of autism and …, 2021 - Springer
Recent worldwide epidemiological surveys of autism conducted in 37 countries are
reviewed; the median prevalence of autism is. 97% in 26 high-income countries …
reviewed; the median prevalence of autism is. 97% in 26 high-income countries …
Health supervision for children with neurofibromatosis type 1
DT Miller, D Freedenberg, E Schorry, NJ Ullrich… - …, 2019 - publications.aap.org
Neuroibromatosis type 1 (NF1) is a multisystem disorder that primarily involves the skin and
peripheral nervous system. Its population prevalence is approximately 1 in 3000. The …
peripheral nervous system. Its population prevalence is approximately 1 in 3000. The …
[HTML][HTML] Neurofibromatosis 1
JM Friedman - 2022 - europepmc.org
Neurofibromatosis 1 (NF1) is a multisystem disorder characterized by multiple café au lait
macules, intertriginous freckling, multiple cutaneous neurofibromas, and learning disability …
macules, intertriginous freckling, multiple cutaneous neurofibromas, and learning disability …
Neurofibromatosis type 1
PJ Cimino, DH Gutmann - Handbook of clinical neurology, 2018 - Elsevier
The neurofibromatoses are a group of three heterogeneous disorders that include
neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis. NF1 …
neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis. NF1 …
Annual research review: the state of autism intervention science: progress, target psychological and biological mechanisms and future prospects
Background There has been recent systematic review of key evidence in psychosocial
intervention in autism but little review of biological treatments. Methods We analyse the …
intervention in autism but little review of biological treatments. Methods We analyse the …
An update on the central nervous system manifestations of neurofibromatosis type 1
JS Nix, J Blakeley, FJ Rodriguez - Acta neuropathologica, 2020 - Springer
Abstract Neurofibromatosis 1 (NF1) is an autosomal dominant genetic disorder that presents
with variable phenotypes as a result of mutations in the neurofibromatosis type 1 (NF1) gene …
with variable phenotypes as a result of mutations in the neurofibromatosis type 1 (NF1) gene …
Cognitive and behavioral disorders in children with neurofibromatosis type 1
MM Torres Nupan, A Velez Van Meerbeke… - Frontiers in …, 2017 - frontiersin.org
Aim The last systematic review of research on the behavior of children with
neurofibromatosis type 1 (NF1) was in 2012. Since then, several important findings have …
neurofibromatosis type 1 (NF1) was in 2012. Since then, several important findings have …
Annual Research Review: Anterior Modifiers in the Emergence of Neurodevelopmental Disorders (AMEND)—a systems neuroscience approach to common …
We present the Anterior Modifiers in the Emergence of Neurodevelopmental Disorders
(AMEND) framework, designed to reframe the field of prospective studies of …
(AMEND) framework, designed to reframe the field of prospective studies of …
Disease burden and symptom structure of autism in neurofibromatosis type 1: a study of the International NF1-ASD Consortium Team (INFACT)
Importance Recent reports have demonstrated a higher incidence of autism spectrum
disorder (ASD) and substantially elevated autistic trait burden in individuals with …
disorder (ASD) and substantially elevated autistic trait burden in individuals with …