FAQ

NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME

Known as: Legius syndrome, NFLS, Neurofibromatosis Type 1-Like Syndrome 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1978-2017
02419782017

Related topics

Related topics

8 relations
Autosomal dominant inheritanceBlepharoptosisByzanthine arch palateLipoma
(More)

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME
Autosomal dominant inheritance
Blepharoptosis
Lipoma
Micrognathism
Byzanthine arch palate

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
Family with Legius syndrome (neurofibromatosis type 1-like syndrome).
Legius syndrome (Online Mendelian Inheritance in Man no. 611431) or neurofibromatosis type 1 (NF1)-like syndrome was first… (More)
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2012
2012
Diagnostic accuracy of a structured interview for nocturnal frontal lobe epilepsy (SINFLE): a proposal for developing diagnostic criteria.
OBJECTIVES To measure the accuracy of anamnestic features collected during clinical history for the diagnosis of nocturnal… (More)
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Highly Cited
2009
Highly Cited
2009
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
CONTEXT Autosomal dominant inactivating sprouty-related EVH1 domain-containing protein 1 (SPRED1) mutations have recently been… (More)
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2009
2009
SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.
OBJECTIVE Germline loss-of-function mutations in the SPRED1 gene have recently been identified in patients fulfilling the… (More)
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2009
2009
Pigmentary findings in neurofibromatosis type 1-like syndrome (Legius syndrome): potential diagnostic dilemmas.
THE STUDY BY MESSIAEN AND COLLEAGUES 1 IN THIS issue of JAMA provides a significant advance in understanding the clinical… (More)
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Highly Cited
2008
Highly Cited
2008
Experimental validation of circumferential, longitudinal, and radial 2-dimensional strain during dobutamine stress echocardiography in ischemic conditions.
OBJECTIVES The aim of this study was to assess and validate 2-dimensional (2D) strain for the detection of ischemia during… (More)
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2007
2007
Interobserver reliability of video recording in the diagnosis of nocturnal frontal lobe seizures.
BACKGROUND Nocturnal frontal lobe seizures (NFLS) show one or all of the following semeiological patterns: (1) paroxysmal… (More)
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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… (More)
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2001
2001
Quantitative assessment of myocardial perfusion during graded coronary stenosis by real-time myocardial contrast echo refilling curves.
OBJECTIVES The present study examined the ability of real-time myocardial contrast echocardiography (MCE) to delineate… (More)
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2001
2001
Comparative value of dobutamine and adenosine stress in the detection of coronary stenosis with myocardial contrast echocardiography.
BACKGROUND Controversy continues as to whether adenosine or dobutamine is the superior pharmacological stress agent for… (More)
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