These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

108 related items for PubMed ID: 22854039

  • 1. FGD1 as a central regulator of extracellular matrix remodelling--lessons from faciogenital dysplasia.
    Genot E, Daubon T, Sorrentino V, Buccione R.
    J Cell Sci; 2012 Jul 15; 125(Pt 14):3265-70. PubMed ID: 22854039
    [Abstract] [Full Text] [Related]

  • 2. MLK3 regulates bone development downstream of the faciogenital dysplasia protein FGD1 in mice.
    Zou W, Greenblatt MB, Shim JH, Kant S, Zhai B, Lotinun S, Brady N, Hu DZ, Gygi SP, Baron R, Davis RJ, Jones D, Glimcher LH.
    J Clin Invest; 2011 Nov 15; 121(11):4383-92. PubMed ID: 21965325
    [Abstract] [Full Text] [Related]

  • 3. A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE.
    Hamzeh AR, Saif F, Nair P, Binjab AJ, Mohamed M, Al-Ali MT, Bastaki F.
    BMC Pediatr; 2017 Jan 19; 17(1):31. PubMed ID: 28103835
    [Abstract] [Full Text] [Related]

  • 4. Faciogenital dysplasia protein Fgd1 regulates invadopodia biogenesis and extracellular matrix degradation and is up-regulated in prostate and breast cancer.
    Ayala I, Giacchetti G, Caldieri G, Attanasio F, Mariggiò S, Tetè S, Polishchuk R, Castronovo V, Buccione R.
    Cancer Res; 2009 Feb 01; 69(3):747-52. PubMed ID: 19141649
    [Abstract] [Full Text] [Related]

  • 5. The Aarskog-Scott syndrome protein Fgd1 regulates podosome formation and extracellular matrix remodeling in transforming growth factor β-stimulated aortic endothelial cells.
    Daubon T, Buccione R, Génot E.
    Mol Cell Biol; 2011 Nov 01; 31(22):4430-41. PubMed ID: 21911474
    [Abstract] [Full Text] [Related]

  • 6. Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene.
    Ronce N, Maystadt I, Hubert C, Vonwill S, Devriendt K, Moizard MP, Raynaud M.
    Clin Genet; 2012 Jul 01; 82(1):93-6. PubMed ID: 22211847
    [No Abstract] [Full Text] [Related]

  • 7. The First Korean Family with Aarskog-Scott Syndrome Harboring a Novel Mutation in FGD1 Diagnosed via Targeted Gene Panel Sequencing.
    Bae GY, Kim MS, Kim JY, Jang JH, Lee SM, Cho SY, Jin DK.
    Ann Clin Lab Sci; 2020 Sep 01; 50(5):691-698. PubMed ID: 33067218
    [Abstract] [Full Text] [Related]

  • 8. Skeletal-specific expression of Fgd1 during bone formation and skeletal defects in faciogenital dysplasia (FGDY; Aarskog syndrome).
    Gorski JL, Estrada L, Hu C, Liu Z.
    Dev Dyn; 2000 Aug 01; 218(4):573-86. PubMed ID: 10906777
    [Abstract] [Full Text] [Related]

  • 9. A novel mutation in a mother and a son with Aarskog-Scott syndrome.
    Altıncık A, Kaname T, Demir K, Böber E.
    J Pediatr Endocrinol Metab; 2013 Aug 01; 26(3-4):385-8. PubMed ID: 23443263
    [Abstract] [Full Text] [Related]

  • 10. Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy.
    Al-Semari A, Wakil SM, Al-Muhaizea MA, Dababo M, Al-Amr R, Alkuraya F, Meyer BF.
    Clin Dysmorphol; 2013 Jan 01; 22(1):13-7. PubMed ID: 23211637
    [Abstract] [Full Text] [Related]

  • 11. Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia) - update 2015.
    Orrico A, Galli L, Clayton-Smith J, Fryns JP.
    Eur J Hum Genet; 2015 Apr 01; 23(4):. PubMed ID: 25227149
    [No Abstract] [Full Text] [Related]

  • 12. Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia).
    Orrico A, Galli L, Clayton-Smith J, Fryns JP.
    Eur J Hum Genet; 2011 Nov 01; 19(11):. PubMed ID: 21654724
    [No Abstract] [Full Text] [Related]

  • 13. X-linked Aarskog syndrome: report on a novel FGD1 gene mutation. Executive dysfunction as part of the behavioural phenotype.
    Verhoeven WM, Egger JI, Hoogeboom AJ.
    Genet Couns; 2012 Nov 01; 23(2):157-67. PubMed ID: 22876573
    [Abstract] [Full Text] [Related]

  • 14. Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia.
    Völter C, Martínez R, Hagen R, Kress W.
    Eur J Pediatr; 2014 Oct 01; 173(10):1373-6. PubMed ID: 24770546
    [Abstract] [Full Text] [Related]

  • 15. Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism.
    Pilozzi-Edmonds L, Maher TA, Basran RK, Milunsky A, Al-Thihli K, Braverman NE, Alfares A.
    Am J Med Genet A; 2011 Aug 01; 155A(8):1987-90. PubMed ID: 21739585
    [Abstract] [Full Text] [Related]

  • 16. A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel.
    Parıltay E, Hazan F, Ataman E, Demir K, Etlik Ö, Özbek E, Özkan B.
    J Pediatr Endocrinol Metab; 2016 Sep 01; 29(9):1111-4. PubMed ID: 27544718
    [Abstract] [Full Text] [Related]

  • 17. FGD1-related Aarskog-Scott syndrome: Identification of four novel variations and a literature review of clinical and molecular aspects.
    Li S, Tian A, Wen Y, Gu W, Li W, Qiao X, Zhang C, Luo X.
    Eur J Pediatr; 2024 May 01; 183(5):2257-2272. PubMed ID: 38411716
    [Abstract] [Full Text] [Related]

  • 18. Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome.
    Aten E, Sun Y, Almomani R, Santen GW, Messemaker T, Maas SM, Breuning MH, den Dunnen JT.
    Hum Mutat; 2013 Mar 01; 34(3):430-4. PubMed ID: 23169394
    [Abstract] [Full Text] [Related]

  • 19. Isolation, characterization, and mapping of the mouse Fgd3 gene, a new Faciogenital Dysplasia (FGD1; Aarskog Syndrome) gene homologue.
    Pasteris NG, Nagata K, Hall A, Gorski JL.
    Gene; 2000 Jan 25; 242(1-2):237-47. PubMed ID: 10721717
    [Abstract] [Full Text] [Related]

  • 20. Genomic organization of the faciogenital dysplasia (FGD1; Aarskog syndrome) gene.
    Pasteris NG, Buckler J, Cadle AB, Gorski JL.
    Genomics; 1997 Aug 01; 43(3):390-4. PubMed ID: 9268645
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 6.