217 related articles for article (PubMed ID: 34056834)
1. 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]
2. 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]
3. 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]
4. Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies.
Chacon-Camacho OF; Lopez-Moreno D; Morales-Sanchez MA; Hofmann E; Pacheco-Quito M; Wieland I; Cortes-Gonzalez V; Villanueva-Mendoza C; Zenker M; Zenteno JC
Mol Genet Genomic Med; 2019 May; 7(5):e625. PubMed ID: 30891959
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. Cystic partially differentiated nephroblastoma, embryonal rhabdomyosarcoma, and multiple congenital anomalies associated with variegated mosaic aneuploidy and premature centromere division: a case report.
Furukawa T; Azakami S; Kurosawa H; Ono Y; Ueda Y; Konno Y
J Pediatr Hematol Oncol; 2003 Nov; 25(11):896-9. PubMed ID: 14608201
[TBL] [Abstract][Full Text] [Related]
9. Somatic KRAS mutation affecting codon 146 in linear sebaceous nevus syndrome.
Kapoor S; Scanga HL; Reyes-Múgica M; Nischal KK
Am J Med Genet A; 2021 Dec; 185(12):3825-3830. PubMed ID: 34254724
[TBL] [Abstract][Full Text] [Related]
10. Inguinal lymph nodes agenesia in a patient with Schimmelpenning-Feuerstein-Mims syndrome with proven somatic KRAS mutation.
Blanco Portals C; Gómez Tellado M; Del Pozo Losada J; Rodríguez Ruiz M
Clin Exp Dermatol; 2022 Jan; 47(1):235-239. PubMed ID: 34435383
[TBL] [Abstract][Full Text] [Related]
11. Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation.
Gripp KW; Baker L; Kandula V; Conard K; Scavina M; Napoli JA; Griffin GC; Thacker M; Knox RG; Clark GR; Parker VE; Semple R; Mirzaa G; Keppler-Noreuil KM
Am J Med Genet A; 2016 Oct; 170(10):2559-69. PubMed ID: 27191687
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Identification of Codon 146
Beyens A; Dequeker L; Brems H; Janssens S; Syryn H; D'Hooghe A; De Paepe P; Vanwalleghem L; Stockman A; Vankwikelberge E; De Schepper S; Goeteyn M; Delbeke P; Callewaert B
Int J Mol Sci; 2022 Apr; 23(7):. PubMed ID: 35409398
[TBL] [Abstract][Full Text] [Related]
14. Wilms tumor screening in diffuse capillary malformation with overgrowth and macrocephaly-capillary malformation: A retrospective study.
Peterman CM; Vadeboncoeur S; Mulliken JB; Fishman SJ; Liang MG
J Am Acad Dermatol; 2017 Nov; 77(5):874-878. PubMed ID: 28822558
[TBL] [Abstract][Full Text] [Related]
15. Somatic mosaicism in the MAPK pathway in sporadic brain arteriovenous malformation and association with phenotype.
Gao S; Nelson J; Weinsheimer S; Winkler EA; Rutledge C; Abla AA; Gupta N; Shieh JT; Cooke DL; Hetts SW; Tihan T; Hess CP; Ko N; Walcott BP; McCulloch CE; Lawton MT; Su H; Pawlikowska L; Kim H
J Neurosurg; 2022 Jan; 136(1):148-155. PubMed ID: 34214981
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA-related overgrowth spectrum.
Michel ME; Konczyk DJ; Yeung KS; Murillo R; Vivero MP; Hall AM; Zurakowski D; Adams D; Gupta A; Huang AY; Chung BHY; Warman ML
Clin Genet; 2018 May; 93(5):1075-1080. PubMed ID: 29231959
[TBL] [Abstract][Full Text] [Related]
18. Schimmelpenning-Feuerstein-Mims syndrome induced by HRAS Gly12Ser somatic mosaic mutation: Case report and literature review.
Ono H; Yamaguchi R; Arai M; Togi S; Ura H; Niida Y; Shimizu A
J Dermatol; 2023 Sep; 50(9):1213-1215. PubMed ID: 37170693
[TBL] [Abstract][Full Text] [Related]
19. A Patient With Schimmelpenning Syndrome and Mosaic KRAS Mutation.
Mitchell BJ; Rogers GF; Wood BC
J Craniofac Surg; 2019 Jan; 30(1):184-185. PubMed ID: 30394973
[TBL] [Abstract][Full Text] [Related]
20. Molecular Diagnosis of Mosaic Overgrowth Syndromes Using a Custom-Designed Next-Generation Sequencing Panel.
Chang F; Liu L; Fang E; Zhang G; Chen T; Cao K; Li Y; Li MM
J Mol Diagn; 2017 Jul; 19(4):613-624. PubMed ID: 28502725
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]