182 related articles for article (PubMed ID: 32843429)
1. Parkes Weber syndrome associated with two somatic pathogenic variants in
Flores Daboub JA; Grimmer JF; Frigerio A; Wooderchak-Donahue W; Arnold R; Szymanski J; Longo N; Bayrak-Toydemir P
Cold Spring Harb Mol Case Stud; 2020 Aug; 6(4):. PubMed ID: 32843429
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Somatic second hit mutation of RASA1 in vascular endothelial cells in capillary malformation-arteriovenous malformation.
Lapinski PE; Doosti A; Salato V; North P; Burrows PE; King PD
Eur J Med Genet; 2018 Jan; 61(1):11-16. PubMed ID: 29024832
[TBL] [Abstract][Full Text] [Related]
4. Parkes Weber syndrome with lymphedema caused by a somatic
Eng W; Sudduth CL; Konczyk DJ; Smits PJ; Taghinia AH; Fishman SJ; Alomari A; Adams DM; Greene AK
Cold Spring Harb Mol Case Stud; 2021 Dec; 7(6):. PubMed ID: 34607843
[TBL] [Abstract][Full Text] [Related]
5. Genetic testing in the evaluation of individuals with clinical diagnosis of atypical Sturge-Weber syndrome.
Yeom S; Cohen B; Weiss CR; Montano C; Wohler E; Sobreira N; Hammill AM; Comi A
Am J Med Genet A; 2023 Apr; 191(4):983-994. PubMed ID: 36710374
[TBL] [Abstract][Full Text] [Related]
6. Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth.
Revencu N; Boon LM; Dompmartin A; Rieu P; Busch WL; Dubois J; Forzano F; van Hagen JM; Halbach S; Kuechler A; Lachmeijer AM; Lähde J; Russell L; Simola KO; Mulliken JB; Vikkula M
Mol Syndromol; 2013 Apr; 4(4):173-8. PubMed ID: 23801933
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Lymphatic abnormalities are associated with RASA1 gene mutations in mouse and man.
Burrows PE; Gonzalez-Garay ML; Rasmussen JC; Aldrich MB; Guilliod R; Maus EA; Fife CE; Kwon S; Lapinski PE; King PD; Sevick-Muraca EM
Proc Natl Acad Sci U S A; 2013 May; 110(21):8621-6. PubMed ID: 23650393
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Constitutional mosaicism in RASA1-related capillary malformation-arteriovenous malformation.
Gordo G; Rodriguez-Laguna L; Agra N; Mendez P; Feito M; Lapunzina P; Lopez-Gutierrez JC; Martinez-Glez V
Clin Genet; 2019 Apr; 95(4):516-519. PubMed ID: 30635911
[TBL] [Abstract][Full Text] [Related]
12.
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]
13. RASA1 analysis: clinical and molecular findings in a series of consecutive cases.
Wooderchak-Donahue W; Stevenson DA; McDonald J; Grimmer JF; Gedge F; Bayrak-Toydemir P
Eur J Med Genet; 2012 Feb; 55(2):91-5. PubMed ID: 22200646
[TBL] [Abstract][Full Text] [Related]
14. Multifocal capillary malformations in an older, asymptomatic child with a novel RASA1 mutation.
Whitaker S; Leech S; Taylor A; Splitt M; Natarajan S; Rajan N
Clin Exp Dermatol; 2016 Mar; 41(2):156-8. PubMed ID: 26132338
[TBL] [Abstract][Full Text] [Related]
15. Histopathologic and ultrasound characteristics of cutaneous capillary malformations in a patient with capillary malformation-arteriovenous malformation syndrome.
Kim C; Ko CJ; Baker KE; Antaya RJ
Pediatr Dermatol; 2015; 32(1):128-31. PubMed ID: 23829194
[TBL] [Abstract][Full Text] [Related]
16. RASA1: variable phenotype with capillary and arteriovenous malformations.
Boon LM; Mulliken JB; Vikkula M
Curr Opin Genet Dev; 2005 Jun; 15(3):265-9. PubMed ID: 15917201
[TBL] [Abstract][Full Text] [Related]
17. A spectrum of intracranial vascular high-flow arteriovenous shunts in RASA1 mutations.
Grillner P; Söderman M; Holmin S; Rodesch G
Childs Nerv Syst; 2016 Apr; 32(4):709-15. PubMed ID: 26499346
[TBL] [Abstract][Full Text] [Related]
18. Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations.
Eerola I; Boon LM; Mulliken JB; Burrows PE; Dompmartin A; Watanabe S; Vanwijck R; Vikkula M
Am J Hum Genet; 2003 Dec; 73(6):1240-9. PubMed ID: 14639529
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Molecular diagnosis of somatic overgrowth conditions: A single-center experience.
Lalonde E; Ebrahimzadeh J; Rafferty K; Richards-Yutz J; Grant R; Toorens E; Marie Rosado J; Schindewolf E; Ganguly T; Kalish JM; Deardorff MA; Ganguly A
Mol Genet Genomic Med; 2019 Mar; 7(3):e536. PubMed ID: 30761771
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
