PMC Links for Nucleotide (Select 1675112478) - PMC

Select item 60489851.

BHD-associated kidney cancer exhibits unique molecular characteristics and a wide variety of variants in chromatin remodeling genes

Hisashi Hasumi, Mitsuko Furuya, Kenji Tatsuno, Shogo Yamamoto, Masaya Baba, Yukiko Hasumi, Yasuhiro Isono, Kae Suzuki, Ryosuke Jikuya, Shinji Otake, Kentaro Muraoka, Kimito Osaka, Narihiko Hayashi, Kazuhide Makiyama, Yasuhide Miyoshi, Keiichi Kondo, Noboru Nakaigawa, Takashi Kawahara, Koji Izumi, Junichi Teranishi, Yasushi Yumura, Hiroji Uemura, Yoji Nagashima, Adam R Metwalli, Laura S Schmidt, Hiroyuki Aburatani, W Marston Linehan, Masahiro Yao

Hum Mol Genet. 2018 Aug 1; 27(15): 2712–2724. Published online 2018 May 14. doi: 10.1093/hmg/ddy181

PMCID:: PMC6048985

Abstract Article PDF–1.1M

Select item 57767682.

Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene

Xiaocan Hou, Yuan Zhou, Yun Peng, Rong Qiu, Kun Xia, Beisha Tang, Wei Zhuang, Hong Jiang

BMC Med Genet. 2018; 19: 14. Published online 2018 Jan 22. doi: 10.1186/s12881-017-0519-z

PMCID:: PMC5776768

Abstract Article PDF–2.4M

Select item 56822203.

FLCN: the causative gene for Birt-Hogg-Dubé syndrome

Laura S. Schmidt, W. Marston Linehan

Gene. Author manuscript; available in PMC 2019 Jan 15.

Published in final edited form as: Gene. 2018 Jan 15; 640: 28–42. Published online 2017 Sep 29. doi: 10.1016/j.gene.2017.09.044

PMCID:: PMC5682220

Abstract Article PDF–1.3M

Select item 17572194.

Clinical and genetic studies of Birt-Hogg-Dubé syndrome

S Khoo, S Giraud, K Kahnoski, J Chen, O Motorna, R Nickolov, O Binet, D Lambert, J Friedel, R Levy, S Ferlicot, P Wolkenstein, P Hammel, U Bergerheim, M Hedblad, M Bradley, B Teh, M Nordenskjold, S Richard

J Med Genet. 2002 Dec; 39(12): 906–912. doi: 10.1136/jmg.39.12.906

Correction in:: J Med Genet. 2003 Feb; 40(2): 150.

PMCID:: PMC1757219

Summary PDF–324K

Select item 12260735.

Birt-Hogg-Dubé Syndrome, a Genodermatosis Associated with Spontaneous Pneumothorax and Kidney Neoplasia, Maps to Chromosome 17p11.2

Laura S. Schmidt, Michelle B. Warren, Michael L. Nickerson, Gregor Weirich, Vera Matrosova, Jorge R. Toro, Maria L. Turner, Paul Duray, Maria Merino, Stephen Hewitt, Christian P. Pavlovich, Gladys Glenn, Cheryl R. Greenberg, W. Marston Linehan, Berton Zbar

Am J Hum Genet. 2001 Oct; 69(4): 876–882. Published online 2001 Aug 30. doi: 10.1086/323744

PMCID:: PMC1226073

Abstract Article PDF–559K

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