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Journal Abstract Search

132 related items for PubMed ID: 23211637

  • 21. [Analysis of FGD1 gene variant in a child with Aarskog-Scott syndrome].
    Wang R, Pei J, Jiang X, Guo B, Guo C.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Aug 10; 38(8):757-760. PubMed ID: 34365618
    [Abstract] [Full Text] [Related]

  • 22. Novel truncating variants in FGD1 detected in two Danish families with Aarskog-Scott syndrome and myopathic features.
    Bayat A, Krett B, Dunø M, Torring PM, Vissing J.
    Am J Med Genet A; 2022 Jul 10; 188(7):2251-2257. PubMed ID: 35388608
    [Abstract] [Full Text] [Related]

  • 23. 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 10; 121(11):4383-92. PubMed ID: 21965325
    [Abstract] [Full Text] [Related]

  • 24. A complex Xp11.22 deletion in a patient with syndromic autism: exploration of FAM120C as a positional candidate gene for autism.
    De Wolf V, Crepel A, Schuit F, van Lommel L, Ceulemans B, Steyaert J, Seuntjens E, Peeters H, Devriendt K.
    Am J Med Genet A; 2014 Dec 10; 164A(12):3035-41. PubMed ID: 25258334
    [Abstract] [Full Text] [Related]

  • 25. The Prevalence of Clinical Features in Patients with Aarskog-Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review.
    Zanetti Drumond V, Sousa Salgado L, Sousa Salgado C, Oliveira VAL, de Assis EM, Campos Ribeiro M, Furtado Valadão A, Orrico A.
    Genet Res (Camb); 2021 Dec 10; 2021():6652957. PubMed ID: 33762894
    [Abstract] [Full Text] [Related]

  • 26. Congenital heart defects in Aarskog syndrome.
    Fernandez I, Tsukahara M, Mito H, Yoshii H, Uchida M, Matsuo K, Kajii T.
    Am J Med Genet; 1994 May 01; 50(4):318-22. PubMed ID: 8209909
    [Abstract] [Full Text] [Related]

  • 27. Prenatal ultrasound signs of Aarskog-Scott syndrome in a twin pregnancy: A case report.
    Bertucci E, Giulini S, Sighinolfi G, Benuzzi M, Lugli L.
    Int J Gynaecol Obstet; 2024 May 01; 165(2):837-839. PubMed ID: 38217107
    [No Abstract] [Full Text] [Related]

  • 28. First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome.
    Bedoyan JK, Friez MJ, DuPont B, Ahmad A.
    Eur J Med Genet; 2009 May 01; 52(4):262-4. PubMed ID: 19110080
    [Abstract] [Full Text] [Related]

  • 29. [Aarskog-Scott syndrome].
    Matsuura N.
    Nihon Rinsho; 2006 Sep 28; Suppl 3():395-9. PubMed ID: 17022572
    [No Abstract] [Full Text] [Related]

  • 30. 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 28; 31(22):4430-41. PubMed ID: 21911474
    [Abstract] [Full Text] [Related]

  • 31. Syndrome of short stature, widow's peak, ptosis, posteriorly angulated ears, and joint problems: exclusion of the Aarskog (FGD1) gene as a candidate gene.
    LaDine BJ, Simmons JA, Shrimpton AE, Hoo JJ.
    Am J Med Genet; 2001 Mar 15; 99(3):248-51. PubMed ID: 11241498
    [Abstract] [Full Text] [Related]

  • 32. Aarskog-scott syndrome (AAS): a case report.
    Braiotta F, Paglia M, Mummolo S.
    Eur J Paediatr Dent; 2023 Sep 01; 24(3):238 - 240. PubMed ID: 37337880
    [Abstract] [Full Text] [Related]

  • 33. Aarskog-Scott syndrome and atopic dermatitis successfully treated with dupilumab: a casual presentation?
    Calabrese G, Licata G, Buononato D, Gambardella A, De Rosa A, Argenziano G.
    Clin Exp Dermatol; 2022 Feb 01; 47(2):452-453. PubMed ID: 34482546
    [No Abstract] [Full Text] [Related]

  • 34. Velopharyngeal Characteristics in Aarskog-Scott Syndrome: A Case Report.
    Kollara L, Reiss SL, Singam S, Kellogg B.
    Cleft Palate Craniofac J; 2024 May 01; 61(5):892-896. PubMed ID: 36475306
    [Abstract] [Full Text] [Related]

  • 35. Aortic root aneurysm in a patient with Aarskog-Scott syndrome.
    Martin-Suarez S, Pagano V, Campanini F, Nania R, Costantino A, Pacini D.
    J Card Surg; 2022 Sep 01; 37(9):2897-2899. PubMed ID: 35703394
    [Abstract] [Full Text] [Related]

  • 36. Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients.
    Orrico A, Galli L, Cavaliere ML, Garavelli L, Fryns JP, Crushell E, Rinaldi MM, Medeira A, Sorrentino V.
    Eur J Hum Genet; 2004 Jan 01; 12(1):16-23. PubMed ID: 14560308
    [Abstract] [Full Text] [Related]

  • 37. Female counterpart of shawl scrotum in Aarskog-Scott syndrome.
    Moraes SG, Guerra-Junior G, Maciel-Guerra AT.
    Int Braz J Urol; 2006 Jan 01; 32(4):459-61. PubMed ID: 16953916
    [Abstract] [Full Text] [Related]

  • 38. Consequences of mutations within the C terminus of the FHL1 gene.
    Schoser B, Goebel HH, Janisch I, Quasthoff S, Rother J, Bergmann M, Müller-Felber W, Windpassinger C.
    Neurology; 2009 Aug 18; 73(7):543-51. PubMed ID: 19687455
    [Abstract] [Full Text] [Related]

  • 39. Unilateral focal polymicrogyria in a patient with classical Aarskog-Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1.
    Bottani A, Orrico A, Galli L, Karam O, Haenggeli CA, Ferey S, Conrad B.
    Am J Med Genet A; 2007 Oct 01; 143A(19):2334-8. PubMed ID: 17847065
    [Abstract] [Full Text] [Related]

  • 40. Familial syndrome resembling Aarskog syndrome.
    Xu M, Qi M, Zhou H, Yong J, Qiu H, Cong P, Hong X, Li C, Jiang Y, Chen X, Yu Y.
    Am J Med Genet A; 2010 Aug 01; 152A(8):2017-22. PubMed ID: 20607856
    [Abstract] [Full Text] [Related]

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