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Journal Abstract Search

325 related items for PubMed ID: 29165300

  • 1. FOXI2: a possible gene contributing to ectodermal dysplasia.
    Kurban M, Zeineddine SB, Hamie L, Safi R, Abbas O, Kibbi AG, Bitar F, Nemer G.
    Eur J Dermatol; 2017 Dec 01; 27(6):641-645. PubMed ID: 29165300
    [Abstract] [Full Text] [Related]

  • 2. Objective studies of the face of Noonan, Cardio-facio-cutaneous, and Costello syndromes: A comparison of three disorders of the Ras/MAPK signaling pathway.
    Allanson JE.
    Am J Med Genet A; 2016 Oct 01; 170(10):2570-7. PubMed ID: 27155212
    [Abstract] [Full Text] [Related]

  • 3. Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina.
    Chinton J, Huckstadt V, Moresco A, Gravina LP, Obregon MG.
    Arch Argent Pediatr; 2019 Oct 01; 117(5):330-337. PubMed ID: 31560489
    [Abstract] [Full Text] [Related]

  • 4. Clinical and molecular analysis of RASopathies in a group of Turkish patients.
    Şimşek-Kiper PÖ, Alanay Y, Gülhan B, Lissewski C, Türkyilmaz D, Alehan D, Cetin M, Utine GE, Zenker M, Boduroğlu K.
    Clin Genet; 2013 Feb 01; 83(2):181-6. PubMed ID: 22420426
    [Abstract] [Full Text] [Related]

  • 5. Autism traits in the RASopathies.
    Adviento B, Corbin IL, Widjaja F, Desachy G, Enrique N, Rosser T, Risi S, Marco EJ, Hendren RL, Bearden CE, Rauen KA, Weiss LA.
    J Med Genet; 2014 Jan 01; 51(1):10-20. PubMed ID: 24101678
    [Abstract] [Full Text] [Related]

  • 6. Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome.
    Myers A, Bernstein JA, Brennan ML, Curry C, Esplin ED, Fisher J, Homeyer M, Manning MA, Muller EA, Niemi AK, Seaver LH, Hintz SR, Hudgins L.
    Am J Med Genet A; 2014 Nov 01; 164A(11):2814-21. PubMed ID: 25250515
    [Abstract] [Full Text] [Related]

  • 7. Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes.
    Kratz CP, Franke L, Peters H, Kohlschmidt N, Kazmierczak B, Finckh U, Bier A, Eichhorn B, Blank C, Kraus C, Kohlhase J, Pauli S, Wildhardt G, Kutsche K, Auber B, Christmann A, Bachmann N, Mitter D, Cremer FW, Mayer K, Daumer-Haas C, Nevinny-Stickel-Hinzpeter C, Oeffner F, Schlüter G, Gencik M, Überlacker B, Lissewski C, Schanze I, Greene MH, Spix C, Zenker M.
    Br J Cancer; 2015 Apr 14; 112(8):1392-7. PubMed ID: 25742478
    [Abstract] [Full Text] [Related]

  • 8. [Mutagenic effect of advanced paternal age in neurocardiofaciocutaneous syndrome].
    Seemanová E, Zenker M.
    Cas Lek Cesk; 2014 Apr 14; 153(5):242-5. PubMed ID: 25370770
    [Abstract] [Full Text] [Related]

  • 9. Rasopathies - dysmorphic syndromes with short stature and risk of malignancy.
    Cizmarova M, Kostalova L, Pribilincova Z, Lasabova Z, Hlavata A, Kovacs L, Ilencikova D.
    Endocr Regul; 2013 Oct 14; 47(4):217-22. PubMed ID: 24156711
    [Abstract] [Full Text] [Related]

  • 10. Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong.
    Yu KPT, Luk HM, Leung GKC, Mak CCY, Cheng SSW, Hau EWL, Chan DKH, Lam STS, Tong TMF, Chung BHY, Lo IFM.
    Am J Med Genet C Semin Med Genet; 2019 Jun 14; 181(2):208-217. PubMed ID: 30896080
    [Abstract] [Full Text] [Related]

  • 11. 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 14; 173(9):2346-2352. PubMed ID: 28650561
    [Abstract] [Full Text] [Related]

  • 12. Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1.
    Uludağ Alkaya D, Lissewski C, Yeşil G, Zenker M, Tüysüz B.
    Am J Med Genet A; 2021 Dec 14; 185(12):3623-3633. PubMed ID: 34184824
    [Abstract] [Full Text] [Related]

  • 13. Noonan syndrome and clinically related disorders.
    Tartaglia M, Gelb BD, Zenker M.
    Best Pract Res Clin Endocrinol Metab; 2011 Feb 14; 25(1):161-79. PubMed ID: 21396583
    [Abstract] [Full Text] [Related]

  • 14. Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies.
    Leung GKC, Luk HM, Tang VHM, Gao WW, Mak CCY, Yu MHC, Wong WL, Chu YWY, Yang WL, Wong WHS, Ma ACH, Leung AYH, Jin DY, Chan KYK, Allanson J, Lo IFM, Chung BHY.
    Sci Rep; 2018 Feb 05; 8(1):2421. PubMed ID: 29402968
    [Abstract] [Full Text] [Related]

  • 15. Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan.
    Lee CL, Tan LTH, Lin HY, Hwu WL, Lee NC, Chien YH, Chuang CK, Wu MH, Wang JK, Chu SY, Lin JL, Lo FS, Su PH, Hsu CC, Ko YY, Chen MR, Chiu HC, Lin SP.
    Am J Med Genet A; 2020 Feb 05; 182(2):357-364. PubMed ID: 31837205
    [Abstract] [Full Text] [Related]

  • 16. 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 05; 48(3):121-7. PubMed ID: 26939159
    [Abstract] [Full Text] [Related]

  • 17.
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    [No Abstract] [Full Text] [Related]

  • 18. Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy.
    Ezquieta B, Santomé JL, Carcavilla A, Guillén-Navarro E, Pérez-Aytés A, Sánchez del Pozo J, García-Miñaur S, Castillo E, Alonso M, Vendrell T, Santana A, Maroto E, Galbis L.
    Rev Esp Cardiol (Engl Ed); 2012 May 05; 65(5):447-55. PubMed ID: 22465605
    [Abstract] [Full Text] [Related]

  • 19. Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients.
    Bessis D, Morice-Picard F, Bourrat E, Abadie C, Aouinti S, Baumann C, Best M, Bursztejn AC, Capri Y, Chiaverini C, Coubes C, Giuliano F, Hadj-Rabia S, Jacquemont ML, Lacombe D, Lyonnet S, Mallet S, Mazereeuw-Hautier J, Miquel J, Molinari N, Parfait B, Pernet C, Philip N, Pinson L, Pouvreau N, Vial Y, Sarda P, Sigaudy S, Verloes A, Cavé H, Geneviève D.
    Br J Dermatol; 2019 Jan 05; 180(1):172-180. PubMed ID: 30141192
    [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 20; 144(2):67-72. PubMed ID: 25194980
    [Abstract] [Full Text] [Related]

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