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15 results
  1. Excluded Studies - Diagnosis and Management of Infantile Hemangioma - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK344066
    ... al. Phakomatosis pigmentovascularis: Implications for severity with special reference to Mongolian spots associated with Sturge-Weber and Klippel-Trenaunay syndromes. Am J Med Genet A. 2007 Dec 15; ...
  2. Vascular Diseases | MedlinePlus 
    https://medlineplus.gov/vasculardiseases.html
    ... of Inhibitor of... Vascular Diseases -- see more articles Reference Desk ... (Nemours Foundation) Venous Malformations (For Parents) (Nemours Foundation) ...
  3. Appendix References - Management of Infantile Epilepsies - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK586268
    ... focal cortical increase of interictal glucose metabolism in Sturge-Weber syndrome: implications for epileptogenesis. Epilepsia. 2011 Jul;52(7): ... Karia S, et al. Clinical outcomes in bilateral Sturge-Weber syndrome. Pediatr Neurol. 2011 Jun;44(6):443–9. ...
  4. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/sturge-weber-syndrome</url><title >Sturge-Weber syndrome</title><other_names >< ...
  5. Birthmark | Mole | Hemangioma | Mongolian Spot | MedlinePlus 
    https://medlineplus.gov/birthmarks.html
    ... Port-Wine Stains (Nemours Foundation) Also in Spanish Sturge-Weber Syndrome (Nemours Foundation) Sturge-Weber Syndrome (National Institute of Neurological Disorders and Stroke) What ...
  6. Capillary Malformation-Arteriovenous Malformation Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK52764
    ... life. Large capillary malformations are not typical. GNAQ Sturge-Weber syndrome (SWS) (OMIM 185300 ) See footnote 2. Intracranial vascular ... of GNAQ has been reported in individuals with Sturge-Weber syndrome [ Shirley et al 2013 ]. 3. Leptomeningeal angiomatosis most ...
  7. Primary Congenital Glaucoma - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1135
    ... 302350 ) NHS XL Cataract and microcornea Skeletal features Sturge-Weber syndrome (OMIM 185300 ) GNAQ See footnote 5. CG w/ ... in GNAQ have been reported in individuals with Sturge-Weber syndrome. Management Evaluations Following Initial Diagnosis To establish the ...
  8. Isolated and Classic Cutis Marmorata Telangiectatica Congenita - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK581081
    ... activating variants may also be seen. 4 GNAQ Sturge-Weber syndrome (OMIM 185300 ) Postzygotic (mosaic) Capillary malformations (sometimes reticulate ... Kinsler VA. GNA11 mutation as a cause of Sturge-Weber syndrome: expansion of the phenotypic spectrum of Gα/11 ...
  9. Epilepsies: diagnosis and management - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK553536
    ... people and adults with specific syndromes such as Sturge–Weber syndrome, the hemispheric syndromes, Rasmussen’s encephalitis and hypothalamic ... and subcortical networks in the brain. Genetic (with reference to epilepsy) ... Idiopathic A syndrome that is only epilepsy, with no underlying structural ...
  10. Resources for Genetics Professionals — Mosaicism - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK585455
    ... type V 5 c.548G>A (p.Arg183Gln) Sturge-Weber syndrome (OMIM 185300 ) c.548G>A (p.Arg183Gln) GNAS ... mosaicism revised 27 October 2022 (sw) Initial posting ... syndrome. Hum Mutat. 2017;38:105-11. [ PubMed : 27701793 ] ...
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