These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

148 related articles for article (PubMed ID: 22790431)

  • 1. Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome.
    Moller HU; Fledelius HC; Milewicz DM; Regalado ES; Ostergaard JR
    Br J Ophthalmol; 2012 Sep; 96(9):1227-31. PubMed ID: 22790431
    [TBL] [Abstract][Full Text] [Related]  

  • 2. High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report.
    Mc Glacken-Byrne AB; Prentice D; Roshandel D; Brown MR; Tuch P; Yau KS; Sivadorai P; Davis MR; Laing NG; Chen FK
    BMC Ophthalmol; 2020 Feb; 20(1):68. PubMed ID: 32093627
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome.
    Logeswaran T; Friedburg C; Hofmann K; Akintuerk H; Biskup S; Graef M; Rad A; Weber A; Neubauer BA; Schranz D; Bouvagnet P; Lorenz B; Hahn A
    Am J Med Genet A; 2017 Apr; 173(4):959-965. PubMed ID: 28328125
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Congenital fixed dilated pupils due to ACTA2- multisystemic smooth muscle dysfunction syndrome.
    Roulez FM; Faes F; Delbeke P; Van Bogaert P; Rodesch G; De Zaeytijd J; Depasse F; Coucke PJ; Meire FM
    J Neuroophthalmol; 2014 Jun; 34(2):137-43. PubMed ID: 24621862
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations.
    Regalado ES; Mellor-Crummey L; De Backer J; Braverman AC; Ades L; Benedict S; Bradley TJ; Brickner ME; Chatfield KC; Child A; Feist C; Holmes KW; Iannucci G; Lorenz B; Mark P; Morisaki T; Morisaki H; Morris SA; Mitchell AL; Ostergaard JR; Richer J; Sallee D; Shalhub S; Tekin M; ; Estrera A; Musolino P; Yetman A; Pyeritz R; Milewicz DM
    Genet Med; 2018 Oct; 20(10):1206-1215. PubMed ID: 29300374
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Neonatal diagnosis of ACTA2-related disease: A case report and review of literature.
    Lupo V; Di Gregorio MG; Mastrogiorgio G; Magliozzi M; Scapillati ME; Maglione V; Romanelli E; Alegiani C; Haass C; Novelli A
    Am J Med Genet A; 2023 Apr; 191(4):1111-1118. PubMed ID: 36607831
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical and neuroimaging features of a familial pathogenic ACTA2 variant as a model of a vascular neurocristopathy.
    Prentice DA; Singh T; Parizel PM
    Neuroradiology; 2022 Sep; 64(9):1773-1780. PubMed ID: 35420309
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Multisystemic smooth muscle dysfunction syndrome in children: a case report and literature review].
    Zhou YL; Zhang YY; Cheng BL; Xu D; Tang LF; Chen ZM
    Zhonghua Er Ke Za Zhi; 2017 Aug; 55(8):619-623. PubMed ID: 28822439
    [No Abstract]   [Full Text] [Related]  

  • 9. Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome.
    Kaw A; Kaw K; Hostetler EM; Beleza-Meireles A; Smith-Collins A; Armstrong C; Scurr I; Cotts T; Aatre R; Bamshad MJ; Earl D; Groner A; Agre K; Raveh Y; Kwartler CS; Milewicz DM
    Am J Med Genet A; 2022 Aug; 188(8):2389-2396. PubMed ID: 35567597
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Iris anomalies and the incidence of
    Taubenslag KJ; Scanga HL; Huey J; Lee J; Medsinge A; Sylvester CL; Cheng KP; Nischal KK
    Br J Ophthalmol; 2019 Apr; 103(4):499-503. PubMed ID: 29875232
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Large Pupils in Infancy. . .Suspected Aniridia. Multisystemic smooth muscle dysfunction syndrome secondary to an ACTA2 mutation.
    Yeung HH
    J Pediatr Ophthalmol Strabismus; 2016; 53(1):7-8. PubMed ID: 26835993
    [No Abstract]   [Full Text] [Related]  

  • 12. Triple bypass for multisystem smooth muscle dysfunction syndrome due to Arg179His ACTA2 mutation.
    Morita S; Yamaguchi K; Akagawa H; Ishikawa T; Funatsu T; Eguchi S; Ishikawa T; Niwa A; Nonaka T; Kawamata T
    J Stroke Cerebrovasc Dis; 2022 Sep; 31(9):106402. PubMed ID: 35248443
    [TBL] [Abstract][Full Text] [Related]  

  • 13. ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome.
    Meuwissen ME; Lequin MH; Bindels-de Heus K; Bruggenwirth HT; Knapen MF; Dalinghaus M; de Coo R; van Bever Y; Winkelman BH; Mancini GM
    Am J Med Genet A; 2013 Jun; 161A(6):1376-80. PubMed ID: 23613326
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Extracorporeal Life Support in Multisystem Smooth Muscle Dysfunction Syndrome.
    Prabhu S; Fox S; Mattke A; Armes JE; Alphonso N
    World J Pediatr Congenit Heart Surg; 2017 Nov; 8(6):750-753. PubMed ID: 27549731
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinicopathologic reports, case reports, and small case series: congenital mydriasis, failure of accommodation, and patent ductus arteriosus.
    Gräf MH; Jungherr A
    Arch Ophthalmol; 2002 Apr; 120(4):509-10. PubMed ID: 11934329
    [No Abstract]   [Full Text] [Related]  

  • 16. Congenital heart defects are rarely caused by mutations in cardiac and smooth muscle actin genes.
    Khodyuchenko T; Zlotina A; Pervunina T; Zverev D; Malashicheva A; Kostareva A
    Biomed Res Int; 2015; 2015():127807. PubMed ID: 25861618
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A Case Report of Congenital Fixed Dilated Pupils Due to ACTA2 Gene Mutation: Multisystemic Smooth Muscle Dysfunction Syndrome.
    Song JR; Kim DH
    Korean J Ophthalmol; 2024 Jun; 38(3):260-262. PubMed ID: 38584446
    [No Abstract]   [Full Text] [Related]  

  • 18. A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations.
    Munot P; Saunders DE; Milewicz DM; Regalado ES; Ostergaard JR; Braun KP; Kerr T; Lichtenbelt KD; Philip S; Rittey C; Jacques TS; Cox TC; Ganesan V
    Brain; 2012 Aug; 135(Pt 8):2506-14. PubMed ID: 22831780
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Aneurysmal Dilatation of Ductus Arteriosus and Pulmonary Artery in Association With ACTA2 Mutation.
    Ardhanari M; Colin A; Tekin M; Infante JC; Swaminathan S
    World J Pediatr Congenit Heart Surg; 2020 Jul; 11(4):NP498-NP500. PubMed ID: 32452246
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Iris and Retinal Findings in Multisystemic Smooth Muscle Dysfunction Syndrome.
    Tsui JC; Kim BJ
    Ophthalmology; 2024 May; 131(5):544. PubMed ID: 37480912
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 8.