151 related articles for article (PubMed ID: 36710374)
21. RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome.
Macmurdo CF; Wooderchak-Donahue W; Bayrak-Toydemir P; Le J; Wallenstein MB; Milla C; Teng JM; Bernstein JA; Stevenson DA
Am J Med Genet A; 2016 Jun; 170(6):1450-4. PubMed ID: 26969842
[TBL] [Abstract][Full Text] [Related]
22. Capillary malformation in the midline of the face: Salmon patch or port-wine stain?
Cai R; Liu F; Cen Q; Yu W; Gong X; Liu Y; Hu X; Ma G; Lin X
J Dermatol; 2018 Nov; 45(11):e317-e319. PubMed ID: 29722431
[No Abstract] [Full Text] [Related]
23. Parkes-Weber syndrome related to RASA1 mosaic mutation.
Boccara O; Eyries M; Pannier S; Ariche-Maman S; Hadj-Rabia S; Coulet F
Clin Genet; 2021 Feb; 99(2):330-331. PubMed ID: 33118152
[No Abstract] [Full Text] [Related]
24. Sturge-Weber Syndrome: A Review.
Higueros E; Roe E; Granell E; Baselga E
Actas Dermosifiliogr; 2017 Jun; 108(5):407-417. PubMed ID: 28126187
[TBL] [Abstract][Full Text] [Related]
25. Leveraging a Sturge-Weber Gene Discovery: An Agenda for Future Research.
Comi AM; Sahin M; Hammill A; Kaplan EH; Juhász C; North P; Ball KL; Levin AV; Cohen B; Morris J; Lo W; Roach ES;
Pediatr Neurol; 2016 May; 58():12-24. PubMed ID: 27268758
[TBL] [Abstract][Full Text] [Related]
26. GNAQ Mutation in the Venous Vascular Malformation and Underlying Brain Tissue in Sturge-Weber Syndrome.
Sundaram SK; Michelhaugh SK; Klinger NV; Kupsky WJ; Sood S; Chugani HT; Mittal S; Juhász C
Neuropediatrics; 2017 Oct; 48(5):385-389. PubMed ID: 28571101
[TBL] [Abstract][Full Text] [Related]
27. Developmental expression of the Sturge-Weber syndrome-associated genetic mutation in Gnaq: a formal test of Happle's paradominant inheritance hypothesis.
Wetzel-Strong SE; Galeffi F; Benavides C; Patrucco M; Bullock JL; Gallione CJ; Lee HK; Marchuk DA
Genetics; 2023 Aug; 224(4):. PubMed ID: 37098137
[TBL] [Abstract][Full Text] [Related]
28. A child with Apert syndrome and Sturge-Weber syndrome: could fibronectin or the RAS/MAPK signaling pathway be the connection?
Tan AP; Chong WK
Childs Nerv Syst; 2018 Jun; 34(6):1247-1250. PubMed ID: 29476210
[TBL] [Abstract][Full Text] [Related]
29.
Revencu N; Fastre E; Ravoet M; Helaers R; Brouillard P; Bisdorff-Bresson A; Chung CWT; Gerard M; Dvorakova V; Irvine AD; Boon LM; Vikkula M
J Med Genet; 2020 Jan; 57(1):48-52. PubMed ID: 31300548
[TBL] [Abstract][Full Text] [Related]
30. Potential biological targets for bioassay development in drug discovery of Sturge-Weber syndrome.
Mohammadipanah F; Salimi F
Chem Biol Drug Des; 2018 Feb; 91(2):359-369. PubMed ID: 28941044
[TBL] [Abstract][Full Text] [Related]
31. Detection of RASA1 mutations in patients with sporadic Sturge-Weber syndrome.
Zhou Q; Zheng JW; Yang XJ; Wang HJ; Ma D; Qin ZP
Childs Nerv Syst; 2011 Apr; 27(4):603-7. PubMed ID: 20821215
[TBL] [Abstract][Full Text] [Related]
32. Ultra-sensitive droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndrome.
Uchiyama Y; Nakashima M; Watanabe S; Miyajima M; Taguri M; Miyatake S; Miyake N; Saitsu H; Mishima H; Kinoshita A; Arai H; Yoshiura K; Matsumoto N
Sci Rep; 2016 Mar; 6():22985. PubMed ID: 26957145
[TBL] [Abstract][Full Text] [Related]
33. Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study.
Diociaiuti A; Rotunno R; Pisaneschi E; Cesario C; Carnevale C; Condorelli AG; Rollo M; Di Cecca S; Quintarelli C; Novelli A; Zambruno G; El Hachem M
Biomedicines; 2022 Jun; 10(6):. PubMed ID: 35740480
[TBL] [Abstract][Full Text] [Related]
34. Clinical and pathologic features of Sturge-Weber syndrome in patients with refractory epilepsy.
Duan Z; Xu K; Xie M; Tian X; Wang X; Feng J; Guan Y; Zhou J; Luan G; Qi X; Lu D
Am J Clin Pathol; 2024 May; 161(5):469-482. PubMed ID: 38217527
[TBL] [Abstract][Full Text] [Related]
35. The genetics of vascular birthmarks.
Mahajan P; Bergstrom KL; Phung TL; Metry DW
Clin Dermatol; 2022; 40(4):313-321. PubMed ID: 35181412
[TBL] [Abstract][Full Text] [Related]
36. Characterization of Patient-Derived GNAQ Mutated Endothelial Cells from Capillary Malformations.
Langbroek GB; Stor MLE; Janssen V; de Haan A; Horbach SER; Graupera M; van Noesel CJM; van der Horst CMAM; Wolkerstorfer A; Huveneers S
J Invest Dermatol; 2024 Jun; 144(6):1378-1388.e1. PubMed ID: 38013159
[TBL] [Abstract][Full Text] [Related]
37. Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation.
Wooderchak-Donahue WL; Johnson P; McDonald J; Blei F; Berenstein A; Sorscher M; Mayer J; Scheuerle AE; Lewis T; Grimmer JF; Richter GT; Steeves MA; Lin AE; Stevenson DA; Bayrak-Toydemir P
Eur J Hum Genet; 2018 Oct; 26(10):1521-1536. PubMed ID: 29891884
[TBL] [Abstract][Full Text] [Related]
38. RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.
Revencu N; Boon LM; Mendola A; Cordisco MR; Dubois J; Clapuyt P; Hammer F; Amor DJ; Irvine AD; Baselga E; Dompmartin A; Syed S; Martin-Santiago A; Ades L; Collins F; Smith J; Sandaradura S; Barrio VR; Burrows PE; Blei F; Cozzolino M; Brunetti-Pierri N; Vicente A; Abramowicz M; Désir J; Vilain C; Chung WK; Wilson A; Gardiner CA; Dwight Y; Lord DJ; Fishman L; Cytrynbaum C; Chamlin S; Ghali F; Gilaberte Y; Joss S; Boente Mdel C; Léauté-Labrèze C; Delrue MA; Bayliss S; Martorell L; González-Enseñat MA; Mazereeuw-Hautier J; O'Donnell B; Bessis D; Pyeritz RE; Salhi A; Tan OT; Wargon O; Mulliken JB; Vikkula M
Hum Mutat; 2013 Dec; 34(12):1632-41. PubMed ID: 24038909
[TBL] [Abstract][Full Text] [Related]
39. A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome.
Fjær R; Marciniak K; Sundnes O; Hjorthaug H; Sheng Y; Hammarström C; Sitek JC; Vigeland MD; Backe PH; Øye AM; Fosse JH; Stav-Noraas TE; Uchiyama Y; Matsumoto N; Comi A; Pevsner J; Haraldsen G; Selmer KK
Hum Mol Genet; 2021 Oct; 30(21):1919-1931. PubMed ID: 34124757
[TBL] [Abstract][Full Text] [Related]
40. A somatic GNA11 mutation is associated with extremity capillary malformation and overgrowth.
Couto JA; Ayturk UM; Konczyk DJ; Goss JA; Huang AY; Hann S; Reeve JL; Liang MG; Bischoff J; Warman ML; Greene AK
Angiogenesis; 2017 Aug; 20(3):303-306. PubMed ID: 28120216
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
