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Journal Abstract Search

242 related items for PubMed ID: 27734835

  • 41. Genetic insight into Birt-Hogg-Dubé syndrome in Indian patients reveals novel mutations at FLCN.
    Ray A, Chattopadhyay E, Singh R, Ghosh S, Bera A, Sarma M, Munot M, Desai U, Rajan S, Prabhudesai P, Prakash AK, Roy Chowdhury S, Bhowmick N, Dhar R, Udwadia ZF, Dey A, Mitra S, Joshi JM, Maitra A, Roy B.
    Orphanet J Rare Dis; 2022 Apr 27; 17(1):176. PubMed ID: 35477461
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  • 42. The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome.
    Wei MH, Blake PW, Shevchenko J, Toro JR.
    Hum Mutat; 2009 Sep 27; 30(9):E880-90. PubMed ID: 19562744
    [Abstract] [Full Text] [Related]

  • 43. 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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  • 44. Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability.
    Nahorski MS, Reiman A, Lim DH, Nookala RK, Seabra L, Lu X, Fenton J, Boora U, Nordenskjöld M, Latif F, Hurst LD, Maher ER.
    Hum Mutat; 2011 Aug 01; 32(8):921-9. PubMed ID: 21538689
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  • 45. Birt-Hogg-Dubé syndrome: diagnosis and management.
    Menko FH, van Steensel MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, Nordenskjöld M, Hansen TV, Solly J, Maher ER, European BHD Consortium.
    Lancet Oncol; 2009 Dec 01; 10(12):1199-206. PubMed ID: 19959076
    [Abstract] [Full Text] [Related]

  • 46. [Birt-Hogg-Dubé syndrome].
    Rehfeld A, van Steensel MA, Friis-Hansen L.
    Ugeskr Laeger; 2010 Jul 19; 172(29):2085-90. PubMed ID: 20633341
    [Abstract] [Full Text] [Related]

  • 47. Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene.
    Kayhan G, Yılmaz Demirci N, Turktas H, Ergun MA.
    Genet Test Mol Biomarkers; 2017 Oct 19; 21(10):632-634. PubMed ID: 28805452
    [Abstract] [Full Text] [Related]

  • 48. A novel variant in the FLCN gene in a Chinese family with Birt-Hogg-Dubé syndrome.
    Miao H, Zhou Y, Ge S, Gu Y, Qu L, Zhou W, He H.
    Mol Genet Genomic Med; 2024 Jul 19; 12(7):e2488. PubMed ID: 38963008
    [Abstract] [Full Text] [Related]

  • 49. BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.
    Toro JR, Wei MH, Glenn GM, Weinreich M, Toure O, Vocke C, Turner M, Choyke P, Merino MJ, Pinto PA, Steinberg SM, Schmidt LS, Linehan WM.
    J Med Genet; 2008 Jun 19; 45(6):321-31. PubMed ID: 18234728
    [Abstract] [Full Text] [Related]

  • 50. Syndrome of Birt-Hogg-Dubé, a histopathological pitfall with similarities to tuberous sclerosis: a report of three cases.
    Spring P, Fellmann F, Giraud S, Clayton H, Hohl D.
    Am J Dermatopathol; 2013 Apr 19; 35(2):241-5. PubMed ID: 23542717
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  • 52. Germline- and Somatic-Inactivating FLCN Variants in Parathyroid Cancer and Atypical Parathyroid Tumors.
    Jha S, Welch J, Tora R, Lack J, Warner A, Del Rivero J, Sadowski SM, Nilubol N, Schmidt LS, Linehan WM, Weinstein LS, Simonds WF, Agarwal SK.
    J Clin Endocrinol Metab; 2023 Sep 18; 108(10):2686-2698. PubMed ID: 36935552
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  • 59. Renal tumour suppressor function of the Birt-Hogg-Dubé syndrome gene product folliculin.
    Hudon V, Sabourin S, Dydensborg AB, Kottis V, Ghazi A, Paquet M, Crosby K, Pomerleau V, Uetani N, Pause A.
    J Med Genet; 2010 Mar 18; 47(3):182-9. PubMed ID: 19843504
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  • 60. An 18-year-old man with recurrent pneumothorax since he was 10-year-old.
    Demir M, Çobanoğlu N.
    Pediatr Pulmonol; 2016 Dec 18; 51(12):E41-E43. PubMed ID: 27257988
    [Abstract] [Full Text] [Related]

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