Literature DB >> 12843323

Alterations of the Birt-Hogg-Dubé gene (BHD) in sporadic colorectal tumours.

K Kahnoski, S K Khoo, N T Nassif, J Chen, G P Lobo, E Segelov, B T Teh.   

Abstract

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Year:  2003        PMID： 12843323      PMCID： PMC1735520          DOI： 10.1136/jmg.40.7.511

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


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  10 in total

1.  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 2.  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

3.  Probability of high-risk genetic matching with oocyte and semen donors: complete gene analysis or genotyping test?

Authors:  Marta Molina Romero; Alberto Yoldi Chaure; Miguel Gañán Parra; Purificación Navas Bastida; José Luis Del Pico Sánchez; Ángel Vaquero Argüelles; Paloma de la Fuente Vaquero; Juan Pablo Ramírez López; José Antonio Castilla Alcalá
Journal:  J Assist Reprod Genet       Date:  2022-01-29       Impact factor: 3.412

4.  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

5.  The tumor suppressor folliculin inhibits lactate dehydrogenase A and regulates the Warburg effect.

Authors:  Mark R Woodford; Alexander J Baker-Williams; Rebecca A Sager; Sarah J Backe; Adam R Blanden; Fiza Hashmi; Priyanka Kancherla; Alessandro Gori; David R Loiselle; Matteo Castelli; Stefano A Serapian; Giorgio Colombo; Timothy A Haystead; Sandra M Jensen; William G Stetler-Stevenson; Stewart N Loh; Laura S Schmidt; W Marston Linehan; Alaji Bah; Dimitra Bourboulia; Gennady Bratslavsky; Mehdi Mollapour
Journal:  Nat Struct Mol Biol       Date:  2021-08-11       Impact factor: 18.361

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.  Birt-Hogg-Dube syndrome prospectively detected by review of chest computed tomography scans.

Authors:  Hye Jung Park; Chul Hwan Park; Sang Eun Lee; Geun Dong Lee; Min Kwang Byun; Sungsoo Lee; Kyung-A Lee; Tae Hoon Kim; Seong Han Kim; Seo Yeon Yang; Hyung Jung Kim; Chul Min Ahn
Journal:  PLoS One       Date:  2017-02-02       Impact factor: 3.240

8.  A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population.

Authors:  Kristina Lagerstedt-Robinson; Izabella Baranowska Körberg; Stefanos Tsiaprazis; Erik Björck; Emma Tham; Anna Poluha; Maritta Hellström Pigg; Ylva Paulsson-Karlsson; Magnus Nordenskjöld; Maria Johansson-Soller; Christos Aravidis
Journal:  PLoS One       Date:  2022-02-17       Impact factor: 3.240

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
  10 in total

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