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NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME

Known as: LEGIUS SYNDROME, NFLS, Neurofibromatosis Type 1-Like Syndrome 
National Institutes of Health

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8 relations
Autosomal dominant inheritanceBlepharoptosisByzanthine arch palateLipoma

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1
RASopathies are a group of disorders caused by disruptions to the RAS‒MAPK pathway. Despite being in the same pathway… 
2019
2019
The Design of internet Of Things Solutions for National Fishery Logistics System
The problem of imbalances in inter-regional fish stocks, the monopoly of fish distribution by some collectors, the scarcity of… 
2016
2016
Distinction of non-ischemia inducing versus ischemia inducing coronary stenosis by fluorescent cardiac imaging
Intraoperative fluorescent cardiac imaging (FCI) can quantitatively assess myocardial perfusion abnormalities produced by graded… 
2012
2012
Multiple or familial café-au-lait spots is neurofibromatosis type 6: clarification of a diagnosis.
A café-au-lait macule (CALM) is an evenly pigmented macule or patch of variable size. Solitary CALMs are common birthmarks in up… 
2011
2011
The SPRED1 Variants Repository for Legius Syndrome
Legius syndrome (LS) is an autosomal dominant disorder caused by germline loss-of-function mutations in the sprouty-related, EVH1… 
2009
2009
Pigmentary findings in neurofibromatosis type 1-like syndrome (Legius syndrome): potential diagnostic dilemmas.
2009
2009
Expanding the phenotype of a neurofibromatosis type 1-like syndrome: a patient with SPRED1 mutation and orbital manifestations: retraction.
A 4-year-old child with no medical history presented for evaluation of a small, palpable nodule near the left inferolateral rim… 
2008
2008
Inhibitory effect of D 1-like and D 3 dopamine receptors on norepinephrine-induced proliferation in vascular smooth muscle cells
Zhen Li,* Changqing Yu,* Yu Han, Hongmei Ren, Weibin Shi, Chunjiang Fu, Duofen He, Lan Huang, Chengming Yang, Xukai Wang, Lin… 
2004
2004
Identification of endogenous phosphorylation sites of bovine medium and low molecular weight neurofilament proteins by tandem mass spectrometry.
Neurofilament proteins (NFP) are intermediate filaments found in the neuronal cytoskeleton. They are highly phosphorylated, a… 
1978
1978
A least-squares technique for extracting neutron spectra from Bonner sphere data.
The accurate assessment of neutron flux and dose-rate levels in a medical environment is a topic of much current interest. In… 
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