BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

120 related articles for article (PubMed ID: 35593416)

  • 1. Patient with recurrent mosaic KRAS variant: Rare oculoectodermal syndrome with severe neurologic phenotype.
    Ververi A; Laidou S; Chatzidimitriou A; Gidaris D; Mataftsi A; Kozeis N; Fidani L; Zafeiriou DI
    J Dermatol; 2022 Oct; 49(10):e381-e382. PubMed ID: 35593416
    [No Abstract]   [Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 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. 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]  

  • 6. Cardiofaciocutaneous syndrome with KRAS gene mutation presenting as chylopericardium.
    Akahoshi S; Hirano A; Nagamine H; Miura M
    Am J Med Genet A; 2020 Mar; 182(3):532-535. PubMed ID: 31926049
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Oculoectodermal syndrome: report of a new case with a broad clinical spectrum.
    Aslan D; Akata RF; Schröder J; Happle R; Moog U; Bartsch O
    Am J Med Genet A; 2014 Nov; 164A(11):2947-51. PubMed ID: 25251940
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Oculoectodermal Syndrome - Encephalocraniocutaneous Lipomatosis Associated with NRAS Mutation.
    Richters RJH; Seyger MMB; Meeuwis KAP; Rinne T; Eijkelenboom A; Willemsen MA
    Acta Derm Venereol; 2020 Apr; 100(8):adv00103. PubMed ID: 31633190
    [No Abstract]   [Full Text] [Related]  

  • 9. LYMPHODYSPLASIA AND KRAS MUTATION: A CASE REPORT AND LITERATURE REVIEW.
    Morcaldi G; Bellini T; Rossi C; Maghnie M; Boccardo F; Bonioli E; Bellini C
    Lymphology; 2015 Sep; 48(3):121-7. PubMed ID: 26939159
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A new case of oculoectodermal syndrome.
    Lee TK; Johnson RL; MacDonald IM; Krol AL; Bamforth JS
    Ophthalmic Genet; 2005 Sep; 26(3):131-3. PubMed ID: 16272058
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Choroidal calcifications in two cases of aplasia cutis congenita and oculoectodermal syndrome.
    Kalavar M; Echegaray JJ; Ashkenazy N; McKeown C; Berrocal AM
    Ophthalmic Genet; 2022 Apr; 43(2):258-261. PubMed ID: 34895016
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Pseudodidymosis: nevus psiloliparus with aplasia cutis congenita, an initial manifestation of Haberland syndrome.
    Ambooken B; Kesavan A; Neelakandan A; Mathew A
    Int J Dermatol; 2018 Dec; 57(12):e160-e162. PubMed ID: 30238439
    [No Abstract]   [Full Text] [Related]  

  • 14. Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.
    Ueda K; Yaoita M; Niihori T; Aoki Y; Okamoto N
    Am J Med Genet A; 2017 Sep; 173(9):2346-2352. PubMed ID: 28650561
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Two novel germline KRAS mutations: expanding the molecular and clinical phenotype.
    Stark Z; Gillessen-Kaesbach G; Ryan MM; Cirstea IC; Gremer L; Ahmadian MR; Savarirayan R; Zenker M
    Clin Genet; 2012 Jun; 81(6):590-4. PubMed ID: 21797849
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Epibulbar Mass With Upper Eyelid Cleft and Focal Scalp Alopecia in a Neonate: A New Case of Oculoectodermal Syndrome.
    Shoji MK; Saeed HN; Habib LA; Freitag SK
    Ophthalmic Plast Reconstr Surg; 2018; 34(4):e133-e136. PubMed ID: 29923968
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Oculo-ectodermal syndrome: report of a case with mosaicism for a deletion on Xq12.
    Fickie MR; Stoler JM
    Am J Med Genet A; 2011 Dec; 155A(12):3122-4. PubMed ID: 22002936
    [No Abstract]   [Full Text] [Related]  

  • 19. OCULOECTODERMAL SYNDROME: A NEW CASE WITH GIANT CELL GRANULOMAS AND NON-OSSIFYING FIBROMAS.
    Mermer S; Kayhan G; Karacelebi E; Percin FE
    Genet Couns; 2016; 27(1):77-81. PubMed ID: 27192894
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients].
    Carcavilla A; García-Miñaúr S; Pérez-Aytés A; Vendrell T; Pinto I; Guillén-Navarro E; González-Meneses A; Aoki Y; Grinberg D; Ezquieta B
    Med Clin (Barc); 2015 Jan; 144(2):67-72. PubMed ID: 25194980
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.