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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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Related topics
Related topics
8 relations
Autosomal dominant inheritance
Blepharoptosis
Byzanthine arch palate
Lipoma
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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
L. Witkowski
,
Mitchell W Dillon
,
Elissa Murphy
,
Matthew S Lebo
,
H. Mason-Suares
Molecular Genetics & Genomic Medicine
2020
Corpus ID: 211556179
RASopathies are a group of disorders caused by disruptions to the RAS‒MAPK pathway. Despite being in the same pathway…
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2019
2019
The Design of internet Of Things Solutions for National Fishery Logistics System
M. T. Muslihi
,
A. D. Achmad
Proceedings of the First International Conference…
2019
Corpus ID: 169092456
The problem of imbalances in inter-regional fish stocks, the monopoly of fish distribution by some collectors, the scarcity of…
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2016
2016
Distinction of non-ischemia inducing versus ischemia inducing coronary stenosis by fluorescent cardiac imaging
S. Wipper
,
B. Reiter
,
+5 authors
C. Detter
The International Journal of Cardiovascular…
2016
Corpus ID: 31954459
Intraoperative fluorescent cardiac imaging (FCI) can quantitatively assess myocardial perfusion abnormalities produced by graded…
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2012
2012
Multiple or familial café-au-lait spots is neurofibromatosis type 6: clarification of a diagnosis.
J. Madson
Dermatology Online Journal
2012
Corpus ID: 33118517
A café-au-lait macule (CALM) is an evenly pigmented macule or patch of variable size. Solitary CALMs are common birthmarks in up…
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2011
2011
The SPRED1 Variants Repository for Legius Syndrome
Kelli L. Sumner
,
D. Crockett
,
T. Muram
,
K. Mallempati
,
H. Best
,
R. Mao
G3: Genes, Genomes, Genetics
2011
Corpus ID: 7953089
Legius syndrome (LS) is an autosomal dominant disorder caused by germline loss-of-function mutations in the sprouty-related, EVH1…
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2009
2009
Pigmentary findings in neurofibromatosis type 1-like syndrome (Legius syndrome): potential diagnostic dilemmas.
D. Stevenson
,
D. Viskochil
Journal of the American Medical Association (JAMA…
2009
Corpus ID: 205015149
2009
2009
Expanding the phenotype of a neurofibromatosis type 1-like syndrome: a patient with SPRED1 mutation and orbital manifestations: retraction.
Katherine A. Lane
,
William V. Anninger
,
J. Katowitz
Ophthalmic Plastic and Reconstructive Surgery
2009
Corpus ID: 37865544
A 4-year-old child with no medical history presented for evaluation of a small, palpable nodule near the left inferolateral rim…
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2008
2008
Inhibitory effect of D 1-like and D 3 dopamine receptors on norepinephrine-induced proliferation in vascular smooth muscle cells
Zhen Li
,
Chang-qing Yu
,
+11 authors
P. Jose
2008
Corpus ID: 13418429
Zhen Li,* Changqing Yu,* Yu Han, Hongmei Ren, Weibin Shi, Chunjiang Fu, Duofen He, Lan Huang, Chengming Yang, Xukai Wang, Lin…
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2004
2004
Identification of endogenous phosphorylation sites of bovine medium and low molecular weight neurofilament proteins by tandem mass spectrometry.
S. Trimpin
,
A. Mixon
,
M. Stapels
,
Moo-young Kim
,
P. Spencer
,
M. Deinzer
Biochemistry
2004
Corpus ID: 12025872
Neurofilament proteins (NFP) are intermediate filaments found in the neuronal cytoskeleton. They are highly phosphorylated, a…
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1978
1978
A least-squares technique for extracting neutron spectra from Bonner sphere data.
C. Zaidins
,
J. B. Martin
,
F. M. Edwards
Medical Physics (Lancaster)
1978
Corpus ID: 19719548
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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