BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

157 related articles for article (PubMed ID: 36966234)

  • 21. Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp.
    Bertola D; Buscarilli M; Stabley DL; Baker L; Doyle D; Bartholomew DW; Sol-Church K; Gripp KW
    Am J Med Genet A; 2017 May; 173(5):1309-1318. PubMed ID: 28371260
    [TBL] [Abstract][Full Text] [Related]  

  • 22. A very mild phenotype in six individuals of a three-generation family with the novel HRAS variant c.176C > G p.(Ala59Gly): Emergence of a new HRAS-related RASopathy distinct from Costello syndrome.
    Frey T; Ivanovski I; Bahr A; Zweier M; Laube J; Luchsinger I; Steindl K; Rauch A
    Am J Med Genet A; 2023 Aug; 191(8):2074-2082. PubMed ID: 37194190
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Malignant diseases in Noonan syndrome and related disorders.
    Hasle H
    Horm Res; 2009 Dec; 72 Suppl 2():8-14. PubMed ID: 20029231
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Costello syndrome: Clinical phenotype, genotype, and management guidelines.
    Gripp KW; Morse LA; Axelrad M; Chatfield KC; Chidekel A; Dobyns W; Doyle D; Kerr B; Lin AE; Schwartz DD; Sibbles BJ; Siegel D; Shankar SP; Stevenson DA; Thacker MM; Weaver KN; White SM; Rauen KA
    Am J Med Genet A; 2019 Sep; 179(9):1725-1744. PubMed ID: 31222966
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome.
    Lorenz S; Lissewski C; Simsek-Kiper PO; Alanay Y; Boduroglu K; Zenker M; Rosenberger G
    Hum Mol Genet; 2013 Apr; 22(8):1643-53. PubMed ID: 23335589
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Clinical and molecular characterization of Costello syndrome in unrelated Mexican patients.
    Ríos-González BE; Rodríguez-Ortiz JF; Castro-Martínez AG; Magaña-Torres MT; Barros-Núñez P
    Clin Dysmorphol; 2022 Apr; 31(2):55-58. PubMed ID: 34845155
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Duplication of Glu37 in the switch I region of HRAS impairs effector/GAP binding and underlies Costello syndrome by promoting enhanced growth factor-dependent MAPK and AKT activation.
    Gremer L; De Luca A; Merbitz-Zahradnik T; Dallapiccola B; Morlot S; Tartaglia M; Kutsche K; Ahmadian MR; Rosenberger G
    Hum Mol Genet; 2010 Mar; 19(5):790-802. PubMed ID: 19995790
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation.
    Pierpont ME; Richards M; Engel WK; Mendelsohn NJ; Summers CG
    Am J Med Genet A; 2017 May; 173(5):1342-1347. PubMed ID: 28337834
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature.
    Sánchez-Montenegro C; Vilanova-Sánchez A; Barrena-Delfa S; Tenorio J; Santos-Simarro F; García-Miñaur S; Lapunzina P; Martínez-Martínez L
    Case Rep Genet; 2017; 2017():1587610. PubMed ID: 28203467
    [TBL] [Abstract][Full Text] [Related]  

  • 30. A novel patient with an attenuated Costello syndrome phenotype due to an HRAS mutation affecting codon 146-Literature review and update.
    Chiu AT; Leung GK; Chu YW; Gripp KW; Chung BH
    Am J Med Genet A; 2017 Apr; 173(4):1109-1114. PubMed ID: 28328122
    [TBL] [Abstract][Full Text] [Related]  

  • 31. C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome.
    Klüppel M; Samavarchi-Tehrani P; Liu K; Wrana JL; Hinek A
    Eur J Hum Genet; 2012 Aug; 20(8):870-7. PubMed ID: 22317973
    [TBL] [Abstract][Full Text] [Related]  

  • 32. NRAS associated RASopathy and embryonal rhabdomyosarcoma.
    Garren B; Stephan M; Hogue JS
    Am J Med Genet A; 2020 Jan; 182(1):195-200. PubMed ID: 31697451
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Medically actionable comorbidities in adults with Costello syndrome.
    Shikany AR; Baker L; Stabley DL; Robbins K; Doyle D; Gripp KW; Weaver KN
    Am J Med Genet A; 2020 Jan; 182(1):130-136. PubMed ID: 31680412
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.
    Lorenz S; Petersen C; Kordaß U; Seidel H; Zenker M; Kutsche K
    Eur J Med Genet; 2012 Nov; 55(11):615-9. PubMed ID: 22926243
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Duplications in the G3 domain or switch II region in HRAS identified in patients with Costello syndrome.
    Nagai K; Niihori T; Okamoto N; Kondo A; Suga K; Ohhira T; Hayabuchi Y; Homma Y; Nakagawa R; Ifuku T; Abe T; Mizuguchi T; Matsumoto N; Aoki Y
    Hum Mutat; 2022 Jan; 43(1):3-15. PubMed ID: 34618388
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Decreased bone mineral density in Costello syndrome.
    Leoni C; Stevenson DA; Martini L; De Sanctis R; Mascolo G; Pantaleoni F; De Santis S; La Torraca I; Persichilli S; Caradonna P; Tartaglia M; Zampino G
    Mol Genet Metab; 2014 Jan; 111(1):41-5. PubMed ID: 24246682
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in development.
    Siegel DH; Mann JA; Krol AL; Rauen KA
    Br J Dermatol; 2012 Mar; 166(3):601-7. PubMed ID: 22098123
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Behavioral phenotype in Costello syndrome with atypical mutation: a case report.
    Alfieri P; Caciolo C; Piccini G; D'Elia L; Valeri G; Menghini D; Tartaglia M; Digilio MC; Dallapiccola B; Vicari S
    Am J Med Genet B Neuropsychiatr Genet; 2015 Jan; 168B(1):66-71. PubMed ID: 25367099
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Italian cancer figures, report 2013: Multiple tumours.
    AIRTUM Working Group
    Epidemiol Prev; 2013; 37(4-5 Suppl 1):1-152. PubMed ID: 24259384
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Folic acid supplementation and malaria susceptibility and severity among people taking antifolate antimalarial drugs in endemic areas.
    Crider K; Williams J; Qi YP; Gutman J; Yeung L; Mai C; Finkelstain J; Mehta S; Pons-Duran C; Menéndez C; Moraleda C; Rogers L; Daniels K; Green P
    Cochrane Database Syst Rev; 2022 Feb; 2(2022):. PubMed ID: 36321557
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.