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Journal Abstract Search

193 related items for PubMed ID: 33540282

  • 21.
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  • 22. Birt-Hogg-Dube syndrome is a novel ciliopathy.
    Luijten MN, Basten SG, Claessens T, Vernooij M, Scott CL, Janssen R, Easton JA, Kamps MA, Vreeburg M, Broers JL, van Geel M, Menko FH, Harbottle RP, Nookala RK, Tee AR, Land SC, Giles RH, Coull BJ, van Steensel MA.
    Hum Mol Genet; 2013 Nov 01; 22(21):4383-97. PubMed ID: 23784378
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  • 24. Birt-Hogg-Dubé syndrome in Korean: clinicoradiologic features and long term follow-up.
    Lee JH, Jeon MJ, Song JS, Chae EJ, Choi JH, Kim GH, Song JW.
    Korean J Intern Med; 2019 Jul 01; 34(4):830-840. PubMed ID: 30360018
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  • 28. Familial multiple discoid fibromas: a look-alike of Birt-Hogg-Dubé syndrome not linked to the FLCN locus.
    Starink TM, Houweling AC, van Doorn MB, Leter EM, Jaspars EH, van Moorselaar RJ, Postmus PE, Johannesma PC, van Waesberghe JH, Ploeger MH, Kramer MT, Gille JJ, Waisfisz Q, Menko FH.
    J Am Acad Dermatol; 2012 Feb 01; 66(2):259.e1-9. PubMed ID: 21794948
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  • 29. Early onset renal cell carcinoma in an adolescent girl with germline FLCN exon 5 deletion.
    Schneider M, Dinkelborg K, Xiao X, Chan-Smutko G, Hruska K, Huang D, Sagar P, Harisinghani M, Iliopoulos O.
    Fam Cancer; 2018 Jan 01; 17(1):135-139. PubMed ID: 28623476
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  • 32. The folliculin-FNIP1 pathway deleted in human Birt-Hogg-Dubé syndrome is required for murine B-cell development.
    Baba M, Keller JR, Sun HW, Resch W, Kuchen S, Suh HC, Hasumi H, Hasumi Y, Kieffer-Kwon KR, Gonzalez CG, Hughes RM, Klein ME, Oh HF, Bible P, Southon E, Tessarollo L, Schmidt LS, Linehan WM, Casellas R.
    Blood; 2012 Aug 09; 120(6):1254-61. PubMed ID: 22709692
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  • 33. Human-induced pluripotent stem cell lines (CMCi006-A and CMCi007-A) from a female and male patient with Fabry disease carrying the same frameshift deletion mutation.
    Cui S, Shin YJ, Ko EJ, Lim SW, Ju JH, Lee KI, Lee JY, Yang CW, Chung BH.
    Stem Cell Res; 2021 Mar 09; 51():102214. PubMed ID: 33545641
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  • 35. Familial spontaneous pneumothorax: importance of screening for Birt-Hogg-Dubé syndrome.
    Liu Y, Xing H, Huang Y, Meng S, Wang J.
    Eur J Cardiothorac Surg; 2020 Jan 01; 57(1):39-45. PubMed ID: 31177286
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  • 36. A case of Birt-Hogg-Dubé syndrome implying reduced or no wild-type folliculin without mutated protein is pathogenic.
    Enomoto Y, Namba Y, Hoshika Y, Komemushi Y, Mitani K, Kume H, Kobayashi E, Miyama Y, Homma Y, Ushiku T, Seyama K.
    Eur J Med Genet; 2020 Apr 01; 63(4):103820. PubMed ID: 31778855
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  • 38. Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation.
    Rossing M, Albrechtsen A, Skytte AB, Jensen UB, Ousager LB, Gerdes AM, Nielsen FC, Hansen TV.
    J Hum Genet; 2017 Feb 01; 62(2):151-157. PubMed ID: 27734835
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  • 40. Birt-Hogg-Dubé syndrome in a patient presenting with familial spontaneous pneumothorax.
    Auerbach A, Roberts DH, Gangadharan SP, Kent MS.
    Ann Thorac Surg; 2014 Jul 01; 98(1):325-7. PubMed ID: 24996715
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