174 related articles for article (PubMed ID: 34114335)
1. Mosaic RASopathy due to KRAS variant G12D with segmental overgrowth and associated peripheral vascular malformations.
Schmidt VF; Wieland I; Wohlgemuth WA; Ricke J; Wildgruber M; Zenker M
Am J Med Genet A; 2021 Oct; 185(10):3122-3128. PubMed ID: 34114335
[TBL] [Abstract][Full Text] [Related]
2. Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants.
Chang CA; Perrier R; Kurek KC; Estrada-Veras J; Lehman A; Yip S; Hendson G; Diamond C; Pinchot JW; Tran JM; Arkin LM; Drolet BA; Napier MP; O'Neill SA; Balci TB; Keppler-Noreuil KM
Am J Med Genet A; 2021 Sep; 185(9):2829-2845. PubMed ID: 34056834
[TBL] [Abstract][Full Text] [Related]
3. Bilateral Nephroblastic Tumors and a Complex Renal Vascular Anomaly in a Patient With a Mosaic RASopathy: Novel Histopathologic Features and Molecular Insights.
Slack JC; Bründler MA; Chang CA; Perrier R; Lafay-Cousin L; Kurek KC
Pediatr Dev Pathol; 2021; 24(3):235-240. PubMed ID: 33538228
[TBL] [Abstract][Full Text] [Related]
4. Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies.
Mussa A; Turchiano A; Cardaropoli S; Coppo P; Pantaleo A; Bagnulo R; Ranieri C; Iacoviello M; Garganese A; Stella A; Vallero SG; Bertin D; Santoro F; Carli D; Ferrero GB; Resta N
Genes Chromosomes Cancer; 2022 Nov; 61(11):689-695. PubMed ID: 35778969
[TBL] [Abstract][Full Text] [Related]
5. A comparative analysis of RAS variants in patients with disorders of somatic mosaicism.
Claire Hou YC; Evenson MJ; Corliss MM; Mahapatra L; Aldawood A; Carpentieri DF; Chamlin SL; Kulungowski AM; Madan-Khetarpal S; Sebastian J; Pet MA; Coughlin CC; Willing MC; Pearson GD; Setty BA; El-Haffaf Z; Cottrell CE; Parikh BA; Krysiak K; Schroeder MC; Heusel JW; Neidich JA; Cao Y
Genet Med; 2023 Mar; 25(3):100348. PubMed ID: 36571464
[TBL] [Abstract][Full Text] [Related]
6. The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth.
Luca M; Piglionica M; Bagnulo R; Cardaropoli S; Carli D; Turchiano A; Coppo P; Pantaleo A; Iacoviello M; Ferrero GB; Mussa A; Resta N
Genes Chromosomes Cancer; 2023 Dec; 62(12):703-709. PubMed ID: 37395289
[TBL] [Abstract][Full Text] [Related]
7. Overgrowth Syndromes Caused by Somatic Variants in the Phosphatidylinositol 3-Kinase/AKT/Mammalian Target of Rapamycin Pathway.
Akgumus G; Chang F; Li MM
J Mol Diagn; 2017 Jul; 19(4):487-497. PubMed ID: 28502730
[TBL] [Abstract][Full Text] [Related]
8. Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants.
De Bortoli M; Ivars M; Revencu N; Nassogne MC; Lavarino C; Paco S; Lammens M; Renders A; Dumitriu D; Helaers R; Boon LM; Baselga E; Vikkula M
Am J Med Genet A; 2024 Jun; 194(6):e63551. PubMed ID: 38321651
[TBL] [Abstract][Full Text] [Related]
9. Capillary malformations in a child caused by a novel HRAS mutation.
van Gysel D; de Maeseneer H; Legius E; Brems H
Pediatr Dermatol; 2024; 41(2):289-291. PubMed ID: 38018302
[TBL] [Abstract][Full Text] [Related]
10. Somatic Gain of KRAS Function in the Endothelium Is Sufficient to Cause Vascular Malformations That Require MEK but Not PI3K Signaling.
Fish JE; Flores Suarez CP; Boudreau E; Herman AM; Gutierrez MC; Gustafson D; DiStefano PV; Cui M; Chen Z; De Ruiz KB; Schexnayder TS; Ward CS; Radovanovic I; Wythe JD
Circ Res; 2020 Aug; 127(6):727-743. PubMed ID: 32552404
[TBL] [Abstract][Full Text] [Related]
11. Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis.
Boppudi S; Bögershausen N; Hove HB; Percin EF; Aslan D; Dvorsky R; Kayhan G; Li Y; Cursiefen C; Tantcheva-Poor I; Toft PB; Bartsch O; Lissewski C; Wieland I; Jakubiczka S; Wollnik B; Ahmadian MR; Heindl LM; Zenker M
Clin Genet; 2016 Oct; 90(4):334-42. PubMed ID: 26970110
[TBL] [Abstract][Full Text] [Related]
12. Diffuse capillary malformation with overgrowth contains somatic PIK3CA variants.
Goss JA; Konczyk DJ; Smits P; Sudduth CL; Bischoff J; Liang MG; Greene AK
Clin Genet; 2020 May; 97(5):736-740. PubMed ID: 31909475
[TBL] [Abstract][Full Text] [Related]
13. A postzygotic KRAS mutation in a patient with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitus.
Nagatsuma M; Takasawa K; Yamauchi T; Nakagawa R; Mizuno T; Tanaka E; Yamamoto K; Uemura N; Kashimada K; Morio T
J Hum Genet; 2019 Feb; 64(2):177-181. PubMed ID: 30443000
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Comprehensive molecular and clinicopathological analysis of vascular malformations: A study of 319 cases.
Ten Broek RW; Eijkelenboom A; van der Vleuten CJM; Kamping EJ; Kets M; Verhoeven BH; Grünberg K; Schultze Kool LJ; Tops BBJ; Ligtenberg MJL; Flucke U
Genes Chromosomes Cancer; 2019 Aug; 58(8):541-550. PubMed ID: 30677207
[TBL] [Abstract][Full Text] [Related]
16. Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes.
Emrick LT; Murphy L; Shamshirsaz AA; Ruano R; Cassady CI; Liu L; Chang F; Sutton VR; Li M; Van den Veyver IB
Am J Med Genet A; 2014 Oct; 164A(10):2633-7. PubMed ID: 25044986
[TBL] [Abstract][Full Text] [Related]
17. Oculoectodermal syndrome is a mosaic RASopathy associated with KRAS alterations.
Peacock JD; Dykema KJ; Toriello HV; Mooney MR; Scholten DJ; Winn ME; Borgman A; Duesbery NS; Hiemenga JA; Liu C; Campbell S; Nickoloff BP; Williams BO; Steensma M
Am J Med Genet A; 2015 Jul; 167(7):1429-35. PubMed ID: 25808193
[TBL] [Abstract][Full Text] [Related]
18. KRAS G12D or G12V Mutation in Human Brain Arteriovenous Malformations.
Oka M; Kushamae M; Aoki T; Yamaguchi T; Kitazato K; Abekura Y; Kawamata T; Mizutani T; Miyamoto S; Takagi Y
World Neurosurg; 2019 Jun; 126():e1365-e1373. PubMed ID: 30902772
[TBL] [Abstract][Full Text] [Related]
19. Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth.
Cottrell CE; Bender NR; Zimmermann MT; Heusel JW; Corliss M; Evenson MJ; Magrini V; Corsmeier DJ; Avenarius M; Dudley JN; Johnston JJ; Lindhurst MJ; Vigh-Conrad K; Davies OMT; Coughlin CC; Frieden IJ; Tollefson M; Zaenglein AL; Ciliberto H; Tosi LL; Semple RK; Biesecker LG; Drolet BA
Genet Med; 2021 Oct; 23(10):1882-1888. PubMed ID: 34040190
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
