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Journal Abstract Search

296 related items for PubMed ID: 30089473

  • 41. Platelet function and filamin A expression in two families with novel FLNA gene mutations associated with periventricular nodular heterotopia and panlobular emphysema.
    Tanner LM, Kunishima S, Lehtinen E, Helin T, Volmonen K, Lassila R, Pöyhönen M.
    Am J Med Genet A; 2022 Jun; 188(6):1716-1722. PubMed ID: 35156755
    [Abstract] [Full Text] [Related]

  • 42. Digenic FLNA and UCHL1 variants resulting in a complex phenotype.
    Pernice HF, O'Donnell LF, Rossor AM, Laura M, Record CJ, Skorupinska M, Blake J, Poh R, Polke J, Reilly MM.
    J Peripher Nerv Syst; 2024 Mar; 29(1):111-115. PubMed ID: 38131667
    [Abstract] [Full Text] [Related]

  • 43. Cardiovascular characteristics in Marfan syndrome and their relation to the genotype.
    De Backer J.
    Verh K Acad Geneeskd Belg; 2009 Mar; 71(6):335-71. PubMed ID: 20232788
    [Abstract] [Full Text] [Related]

  • 44. Periventricular heterotopia: new insights into Ehlers-Danlos syndrome.
    Sheen VL, Walsh CA.
    Clin Med Res; 2005 Nov; 3(4):229-33. PubMed ID: 16303888
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  • 45. Juvenile muscular atrophy of the distal upper extremities associated with x-linked periventricular heterotopia with features of Ehlers-Danlos syndrome.
    Hommel AL, Jewett T, Mortenson M, Caress JB.
    Muscle Nerve; 2016 Oct; 54(4):794-7. PubMed ID: 27144976
    [Abstract] [Full Text] [Related]

  • 46. The X-linked filaminopathies: Synergistic insights from clinical and molecular analysis.
    Wade EM, Halliday BJ, Jenkins ZA, O'Neill AC, Robertson SP.
    Hum Mutat; 2020 May; 41(5):865-883. PubMed ID: 32108395
    [Abstract] [Full Text] [Related]

  • 47. Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities.
    Horn D, Siebert E, Seidel U, Rost I, Mayer K, Abou Jamra R, Mitter D, Kornak U.
    Am J Med Genet A; 2017 Sep; 173(9):2534-2538. PubMed ID: 28742248
    [Abstract] [Full Text] [Related]

  • 48. Gain-of-Function Mutation in Filamin A Potentiates Platelet Integrin αIIbβ3 Activation.
    Berrou E, Adam F, Lebret M, Planche V, Fergelot P, Issertial O, Coupry I, Bordet JC, Nurden P, Bonneau D, Colin E, Goizet C, Rosa JP, Bryckaert M.
    Arterioscler Thromb Vasc Biol; 2017 Jun; 37(6):1087-1097. PubMed ID: 28428218
    [Abstract] [Full Text] [Related]

  • 49. [Cardiovascular manifestations of hereditary dysplasias of connective tissue].
    Bennis A, Mehadji BA, Soulami S, Tahiri A, Chraibi N.
    Ann Cardiol Angeiol (Paris); 1993 Apr; 42(4):173-81. PubMed ID: 8517593
    [Abstract] [Full Text] [Related]

  • 50. The clinical and imaging features of FLNA positive and negative periventricular nodular heterotopia.
    Lu YT, Hsu CY, Liu YT, Chan CK, Chuang YC, Lin CH, Chang KP, Ho CJ, Ng CC, Lim KS, Tsai MH.
    Biomed J; 2022 Jun; 45(3):542-548. PubMed ID: 35660364
    [Abstract] [Full Text] [Related]

  • 51. Diffuse interstitial lung disease in a male fetus with periventricular nodular heterotopia and filamin A mosaic variant.
    Desnous B, Carles G, Riccardi F, Stremler N, Baravalle M, El-Louali F, Testud B, Milh M.
    Prenat Diagn; 2024 Mar; 44(3):364-368. PubMed ID: 38148030
    [Abstract] [Full Text] [Related]

  • 52. Novel cardiac findings in periventricular nodular heterotopia.
    Jefferies JL, Taylor MD, Rossano J, Belmont JW, Craigen WJ.
    Am J Med Genet A; 2010 Jan; 152A(1):165-8. PubMed ID: 20014127
    [Abstract] [Full Text] [Related]

  • 53. [Type IV Ehlers-Danlos syndrome associated with mitral valve prolapse: a case report].
    Watanabe S, Ishimitsu T, Inoue K, Tomizawa T, Noguchi Y, Sugishita Y, Ito I.
    J Cardiol Suppl; 1988 Jan; 18():97-105, discussion 106. PubMed ID: 3076899
    [Abstract] [Full Text] [Related]

  • 54. High Prevalence of Connective Tissue Gene Variants in Professional Ballet.
    Vera AM, Peterson LE, Dong D, Haghshenas V, Yetter TR, Delgado DA, McCulloch PC, Varner KE, Harris JD.
    Am J Sports Med; 2020 Jan; 48(1):222-228. PubMed ID: 31765226
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  • 55. Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations.
    van der Werf CS, Sribudiani Y, Verheij JB, Carroll M, O'Loughlin E, Chen CH, Brooks AS, Liszewski MK, Atkinson JP, Hofstra RM.
    Genet Med; 2013 Apr; 15(4):310-3. PubMed ID: 23037936
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  • 56. Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia.
    Zenker M, Nährlich L, Sticht H, Reis A, Horn D.
    Am J Med Genet A; 2006 May 15; 140(10):1069-73. PubMed ID: 16596676
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  • 57. Critical Structural Defects Explain Filamin A Mutations Causing Mitral Valve Dysplasia.
    Haataja TJK, Capoulade R, Lecointe S, Hellman M, Merot J, Permi P, Pentikäinen U.
    Biophys J; 2019 Oct 15; 117(8):1467-1475. PubMed ID: 31542223
    [Abstract] [Full Text] [Related]

  • 58. Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report.
    Riise N, Lindberg BR, Kulseth MA, Fredwall SO, Lundby R, Estensen ME, Drolsum L, Merckoll E, Krohg-Sørensen K, Paus B.
    BMC Med Genet; 2018 Aug 31; 19(1):155. PubMed ID: 30170566
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  • 59. Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient.
    Marsili L, Overwater E, Hanna N, Baujat G, Baars MJH, Boileau C, Bonneau D, Brehin AC, Capri Y, Cheung HY, Dulfer E, Gerard M, Gouya L, Hilhorst-Hofstee Y, Houweling AC, Isidor B, Le Gloan L, Menke LA, Odent S, Morice-Picard F, Vanlerberghe C, Voorhoeve E, van Tintelen JP, Maugeri A, Arnaud P.
    Clin Genet; 2020 May 31; 97(5):723-730. PubMed ID: 31898322
    [Abstract] [Full Text] [Related]

  • 60. Polyvalvular heart disease with joint hypermobility, characteristic facies, and particular skin abnormalities: new cases of "polyvalvular heart disease syndrome" or new association?
    Edouard T, Prost-Squarcioni C, Dulac Y, Vaysse F, Cavé H, Saugier-Veber P, Bourrouillou G, Verloes A, Tauber M, Bieth E.
    Eur J Med Genet; 2010 May 31; 53(1):29-34. PubMed ID: 19932204
    [Abstract] [Full Text] [Related]

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