Format
Items per page
Sort by

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 205

1.

Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.

Shirley MD, Tang H, Gallione CJ, Baugher JD, Frelin LP, Cohen B, North PE, Marchuk DA, Comi AM, Pevsner J.

N Engl J Med. 2013 May 23;368(21):1971-9. doi: 10.1056/NEJMoa1213507. Epub 2013 May 8.

2.

The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome.

Nakashima M, Miyajima M, Sugano H, Iimura Y, Kato M, Tsurusaki Y, Miyake N, Saitsu H, Arai H, Matsumoto N.

J Hum Genet. 2014 Dec;59(12):691-3. doi: 10.1038/jhg.2014.95. Epub 2014 Nov 6.

PMID:
25374402
3.

Sturge-Weber syndrome and dermatomal facial port-wine stains: incidence, association with glaucoma, and pulsed tunable dye laser treatment effectiveness.

Hennedige AA, Quaba AA, Al-Nakib K.

Plast Reconstr Surg. 2008 Apr;121(4):1173-80. doi: 10.1097/01.prs.0000304606.33897.71.

PMID:
18349634
4.

Novel genetic mutations in a sporadic port-wine stain.

Lian CG, Sholl LM, Zakka LR, O TM, Liu C, Xu S, Stanek E, Garcia E, Jia Y, MacConaill LE, Murphy GF, Waner M, Mihm MC Jr.

JAMA Dermatol. 2014 Dec;150(12):1336-40.

PMID:
25188413
5.

Sturge-Weber syndrome: from the past to the present.

Sudarsanam A, Ardern-Holmes SL.

Eur J Paediatr Neurol. 2014 May;18(3):257-66. doi: 10.1016/j.ejpn.2013.10.003. Epub 2013 Nov 7. Review.

PMID:
24275166
7.

Increased fibronectin expression in sturge-weber syndrome fibroblasts and brain tissue.

Comi AM, Hunt P, Vawter MP, Pardo CA, Becker KG, Pevsner J.

Pediatr Res. 2003 May;53(5):762-9. Epub 2003 Mar 5.

PMID:
12621118
8.

Sturge-Weber syndrome.

Comi AM.

Handb Clin Neurol. 2015;132:157-68. doi: 10.1016/B978-0-444-62702-5.00011-1.

PMID:
26564078
9.

Facial port-wine stains - clinical stratification and risks of neuro-ocular involvement.

Ch'ng S, Tan ST.

J Plast Reconstr Aesthet Surg. 2008 Aug;61(8):889-93. Epub 2007 Jul 2.

PMID:
17604243
10.

A prospective study of risk for Sturge-Weber syndrome in children with upper facial port-wine stain.

Dutkiewicz AS, Ezzedine K, Mazereeuw-Hautier J, Lacour JP, Barbarot S, Vabres P, Miquel J, Balguerie X, Martin L, Boralevi F, Bessou P, Chateil JF, Léauté-Labrèze C; Groupe de Recherche Clinique en Dermatologie Pédiatrique.

J Am Acad Dermatol. 2015 Mar;72(3):473-80. doi: 10.1016/j.jaad.2014.11.009. Epub 2015 Jan 13.

11.
12.

Pathophysiology of Sturge-Weber syndrome.

Comi AM.

J Child Neurol. 2003 Aug;18(8):509-16. Review.

PMID:
13677575
13.

Sturge-Weber syndrome coexisting with episodes of rhabdomyolysis.

Zhu M, Li X, Zhou M, Wan H, Wu Y, Hong D.

BMC Neurol. 2013 Nov 11;13:169. doi: 10.1186/1471-2377-13-169.

14.

Sturge-Weber syndrome: altered blood vessel fibronectin expression and morphology.

Comi AM, Weisz CJ, Highet BH, Skolasky RL, Pardo CA, Hess EJ.

J Child Neurol. 2005 Jul;20(7):572-7.

PMID:
16159522
15.

[Sturge-Weber syndrome].

Maruani A.

Presse Med. 2010 Apr;39(4):482-6. doi: 10.1016/j.lpm.2009.07.030. Epub 2010 Mar 10. Review. French.

PMID:
20219318
16.

Fibronectin: characterization of a somatic mutation in Sturge-Weber syndrome (SWS).

Zhou Q, Zheng JW, Yang XJ, Wang YA, Ye WM, Zhu HG, Zhang ZY.

Med Hypotheses. 2009 Aug;73(2):199-200. doi: 10.1016/j.mehy.2009.03.004. Epub 2009 Apr 8.

PMID:
19359105
17.

Port-wine vascular malformations and glaucoma risk in Sturge-Weber syndrome.

Sharan S, Swamy B, Taranath DA, Jamieson R, Yu T, Wargon O, Grigg JR.

J AAPOS. 2009 Aug;13(4):374-8. doi: 10.1016/j.jaapos.2009.04.007.

PMID:
19683189
18.

Sturge Weber syndrome.

Chaudhary SC, Sonkar SK, Kumar V, Golchha S.

J Assoc Physicians India. 2011 May;59:327-9.

PMID:
21751615
19.

Central hypothyroidism and Sturge-Weber syndrome.

Comi AM, Bellamkonda S, Ferenc LM, Cohen BA, Germain-Lee EL.

Pediatr Neurol. 2008 Jul;39(1):58-62. doi: 10.1016/j.pediatrneurol.2008.03.018.

PMID:
18555176
20.

Sturge-Weber syndrome: deep venous occlusion and the radiologic spectrum.

Slasky SE, Shinnar S, Bello JA.

Pediatr Neurol. 2006 Nov;35(5):343-7.

PMID:
17074605
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk