"Neurocutaneous Syndromes" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.
Descriptor ID |
D020752
|
MeSH Number(s) |
C10.562 C16.131.077.350.712 C16.131.831.350.712 C16.320.850.250.712 C17.800.804.350.712 C17.800.827.250.712
|
Concept/Terms |
Neurocutaneous Syndromes- Neurocutaneous Syndromes
- Neurocutaneous Syndrome
- Syndrome, Neurocutaneous
- Syndromes, Neurocutaneous
- Phacomatosis
- Phakomatosis
- Neurocutaneous Disorders
- Neurocutaneous Disorder
- Phacomatoses
- Neuroectodermal Dysplasia Syndromes
- Neuroectodermal Dysplasia Syndrome
- Syndrome, Neuroectodermal Dysplasia
- Syndromes, Neuroectodermal Dysplasia
- Phakomatoses
|
Below are MeSH descriptors whose meaning is more general than "Neurocutaneous Syndromes".
Below are MeSH descriptors whose meaning is more specific than "Neurocutaneous Syndromes".
This graph shows the total number of publications written about "Neurocutaneous Syndromes" by people in this website by year, and whether "Neurocutaneous Syndromes" was a major or minor topic of these publications.
To see the data from this visualization as text,
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Year | Major Topic | Minor Topic | Total |
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2007 | 1 | 0 | 1 |
2012 | 3 | 0 | 3 |
2013 | 1 | 0 | 1 |
2014 | 0 | 1 | 1 |
2015 | 2 | 0 | 2 |
2016 | 1 | 0 | 1 |
2017 | 2 | 0 | 2 |
2019 | 1 | 0 | 1 |
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Below are the most recent publications written about "Neurocutaneous Syndromes" by people in Profiles.
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Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome. Nat Genet. 2019 10; 51(10):1438-1441.
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Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome. Am J Med Genet A. 2018 01; 176(1):48-55.
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Alu-mediated deletion of PIGL in a Patient with CHIME syndrome. Am J Med Genet A. 2017 May; 173(5):1378-1382.
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Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. Am J Hum Genet. 2016 Mar 03; 98(3):579-587.
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Wyburn-Mason Syndrome Associated With Cutaneous Reactive Angiomatosis and Central Retinal Vein Occlusion. Ophthalmic Surg Lasers Imaging Retina. 2015 Jul-Aug; 46(7):760-2.
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Neuroimaging Manifestations of PHACE Syndrome. Pediatr Neurol. 2015 Sep; 53(3):274-5.
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BRAF mutations are also associated with neurocutaneous melanocytosis and large/giant congenital melanocytic nevi. Pediatr Dev Pathol. 2015 Jan-Feb; 18(1):1-9.
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Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria. Am J Med Genet A. 2013 Feb; 161A(2):320-6.
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Copy number variation analysis in 98 individuals with PHACE syndrome. J Invest Dermatol. 2013 Mar; 133(3):677-684.
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Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis. Am J Med Genet A. 2012 Oct; 158A(10):2393-406.