Literature DB >> 12746401

Mutations of the Birt-Hogg-Dubé (BHD) gene in sporadic colorectal carcinomas and colorectal carcinoma cell lines with microsatellite instability.

J-H Shin, Y-K Shin, J-L Ku, S-Y Jeong, S-H Hong, S-Y Park, W-H Kim, J-G Park.   

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Year:  2003        PMID： 12746401      PMCID： PMC1735471          DOI： 10.1136/jmg.40.5.364

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  11 in total

Review 1.  Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome.

Authors:  Laura S Schmidt; W Marston Linehan
Journal:  Nat Rev Urol       Date:  2015-09-01       Impact factor: 14.432

2.  A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax.

Authors:  Jodie N Painter; Hanna Tapanainen; Mirja Somer; Pentti Tukiainen; Kristiina Aittomäki
Journal:  Am J Hum Genet       Date:  2005-01-18       Impact factor: 11.025

Review 3.  Genetics of skin appendage neoplasms and related syndromes.

Authors:  D A Lee; M E Grossman; P Schneiderman; J T Celebi
Journal:  J Med Genet       Date:  2005-11       Impact factor: 6.318

4.  Biology of SNU cell lines.

Authors:  Ja-Lok Ku; Jae-Gahb Park
Journal:  Cancer Res Treat       Date:  2005-02-28       Impact factor: 4.679

5.  A case of Birt-Hogg-Dubé syndrome.

Authors:  En Hyung Kim; Seon-Yong Jeong; Hyon J Kim; You Chan Kim
Journal:  J Korean Med Sci       Date:  2008-04       Impact factor: 2.153

6.  A Case of Birt-Hogg-Dubé (BHD) Syndrome Harboring a Novel Folliculin (FLCN) Gene Mutation.

Authors:  Takuro Yukawa; Takuya Fukazawa; Masakazu Yoshida; Ichiro Morita; Katsuya Kato; Yasumasa Monobe; Mitsuko Furuya; Yoshio Naomoto
Journal:  Am J Case Rep       Date:  2016-10-26

7.  Appendiceal diverticulosis in a patient with family history of Birt-Hogg-Dubé syndrome--a case report.

Authors:  Alan Alexander; Kyle Hunter; Stephen Passerini; Roopa Bhat; Ambarish P Bhat
Journal:  Radiol Case Rep       Date:  2020-06-24

Review 8.  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

9.  Genetic counseling in renal masses.

Authors:  José Antonio López-Guerrero; Zaida García-Casado; Antonio Fernández-Serra; José Rubio-Briones
Journal:  Adv Urol       Date:  2008-11-09

10.  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
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