Literature DB >> 15864829

Birt-Hogg-Dubé syndrome: germline mutation in the (C)8 mononucleotide tract of the BHD gene in a German patient.

Christof Lamberti, Nadine Schweiger, Wolfgang Hartschuh, Tilman Schulz, Petra Becker-Wegerich, Wolfgang Küster, Arno Rütten, Tilman Sauerbruch, Thomas Ruzicka, Roland Kruse.   

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Year:  2005        PMID： 15864829

Source DB:  PubMed          Journal:  Acta Derm Venereol        ISSN： 0001-5555            Impact factor:   4.437


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  4 in total

1.  The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome.

Authors:  Ming-Hui Wei; Patrick W Blake; Julia Shevchenko; Jorge R Toro
Journal:  Hum Mutat       Date:  2009-09       Impact factor: 4.878

2.  Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation.

Authors:  Maria Rossing; Anders Albrechtsen; Anne-Bine Skytte; Uffe B Jensen; Lilian B Ousager; Anne-Marie Gerdes; Finn C Nielsen; Thomas vO Hansen
Journal:  J Hum Genet       Date:  2016-10-13       Impact factor: 3.172

Review 3.  BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports.

Authors:  J R Toro; M-H Wei; G M Glenn; M Weinreich; O Toure; C Vocke; M Turner; P Choyke; M J Merino; P A Pinto; S M Steinberg; L S Schmidt; W M Linehan
Journal:  J Med Genet       Date:  2008-01-30       Impact factor: 6.318

4.  Flcn-deficient renal cells are tumorigenic and sensitive to mTOR suppression.

Authors:  Mingsong Wu; Shuhui Si; Yan Li; Susan Schoen; Guang-Qian Xiao; Xueying Li; Bin Tean Teh; Guan Wu; Jindong Chen
Journal:  Oncotarget       Date:  2015-10-20
  4 in total

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