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Items: 1 to 20 of 21

1.
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
AbstractArticlePDF–1.1M
2.
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
AbstractArticlePDF–2.4M
3.
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
AbstractArticlePDF–1.3M
4.
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
SummaryPDF–324K
5.
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
AbstractArticlePDF–559K
6.
Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature
Flávia Balsamo, Pedro Augusto Soffner Cardoso, Sergio Aparecido do Amaral Junior, Therésè Rachell Theodoro, Flavia de Sousa Gehrke, Maria Aparecida da Silva Pinhal, Bianca Bianco, Jaques Waisberg
BMC Med Genet. 2020; 21: 52. Published online 2020 Mar 14. doi: 10.1186/s12881-020-0991-8
PMCID:
PMC7071710
AbstractArticlePDF–2.4M
7.
Recurrent primary spontaneous pneumothorax in a large Chinese family: a clinical and genetic investigation
Chun-Ming Zheng, Xiao-Xing Hu, Yan-Li Gao, Jin-Bai Miao, Hui Li
Chin Med J (Engl) 2019 Oct 20; 132(20): 2402–2407. Published online 2019 Oct 20. doi: 10.1097/CM9.0000000000000442
PMCID:
PMC6831060
AbstractArticlePDF–427K
8.
Tumours with class 3 BRAF mutants are sensitive to the inhibition of activated RAS
Zhan Yao, Rona Yaeger, Vanessa S. Rodrik-Outmezguine, Anthony Tao, Neilawattie M. Torres, Matthew T. Chang, Matthias Drosten, Huiyong Zhao, Fabiola Cecchi, Todd Hembrough, Judith Michels, Hervé Baumert, Linde Miles, Naomi M. Campbell, Elisa de Stanchina, David B. Solit, Mariano Barbacid, Barry S. Taylor, Neal Rosen
Nature. Author manuscript; available in PMC 2018 Feb 10.
Published in final edited form as: Nature. 2017 Aug 10; 548(7666): 234–238. Published online 2017 Aug 2. doi: 10.1038/nature23291
PMCID:
PMC5648058
AbstractArticlePDF–2.2M
9.
Clinical and genetic study of a large Chinese family presented with familial spontaneous pneumothorax
Huajie Xing, Yanguo Liu, Guanchao Jiang, Xiao Li, Yanyan Hou, Fan Yang, Jun Wang
J Thorac Dis. 2017 Jul; 9(7): 1967–1972. doi: 10.21037/jtd.2017.06.69
PMCID:
PMC5542951
AbstractArticlePDF–780K
10.
Detection of Folliculin Gene Mutations in Two Chinese Families with Birt-Hogg-Dube Syndrome
Lv Liu, Kai Yang, Xiang Wang, Zhihui Shi, Yifeng Yang, Yu Yuan, Ting Guo, Xiaocui Xiao, Hong Luo
Biomed Res Int. 2017; 2017: 8751384. Published online 2017 Jul 12. doi: 10.1155/2017/8751384
PMCID:
PMC5529666
AbstractArticlePDF–2.3M
11.
Clinical and genetic characteristics of chinese patients with Birt-Hogg-Dubé syndrome
Yaping Liu, Zhiyan Xu, Ruie Feng, Yongzhong Zhan, Jun Wang, Guozhen Li, Xue Li, Weihong Zhang, Xiaowen Hu, Xinlun Tian, Kai-Feng Xu, Xue Zhang
Orphanet J Rare Dis. 2017; 12: 104. Published online 2017 May 30. doi: 10.1186/s13023-017-0656-7
PMCID:
PMC5450333
AbstractArticlePDF–3.6M
12.
Birt–Hogg–Dubé syndrome: a literature review and case study of a Chinese woman presenting a novel FLCN mutation
Shengyu Hao, Fei Long, Fenglan Sun, Teng Liu, Daowei Li, Shujuan Jiang
BMC Pulm Med. 2017; 17: 43. Published online 2017 Feb 21. doi: 10.1186/s12890-017-0383-9
PMCID:
PMC5320703
AbstractArticlePDF–1.5M
13.
A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape
Elisabeth Castellanos, Bernat Gel, Inma Rosas, Eva Tornero, Sheila Santín, Raquel Pluvinet, Juan Velasco, Lauro Sumoy, Jesús del Valle, Manuel Perucho, Ignacio Blanco, Matilde Navarro, Joan Brunet, Marta Pineda, Lidia Feliubadaló, Gabi Capellá, Conxi Lázaro, Eduard Serra
Sci Rep. 2017; 7: 39348. Published online 2017 Jan 4. doi: 10.1038/srep39348
PMCID:
PMC5209725
AbstractArticlePDF–2.3M
14.
A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-Dubé syndrome in patients with primary spontaneous pneumothorax
Xinxin Zhang, Dehua Ma, Wei Zou, Yibing Ding, Chengchu Zhu, Haiyan Min, Bin Zhang, Wei Wang, Baofu Chen, Minhua Ye, Minghui Cai, Yanqing Pan, Lei Cao, Yueming Wan, Yu Jin, Qian Gao, Long Yi
Respir Res. 2016; 17: 64. Published online 2016 May 27. doi: 10.1186/s12931-016-0377-9
PMCID:
PMC4882857
AbstractArticlePDF–1.6M
15.
Recurrent chromosomal gains and heterogeneous driver mutations characterise papillary renal cancer evolution
Michal Kovac, Carolina Navas, Stuart Horswell, Max Salm, Chiara Bardella, Andrew Rowan, Mark Stares, Francesc Castro-Giner, Rosalie Fisher, Elza C. de Bruin, Monika Kovacova, Maggie Gorman, Seiko Makino, Jennet Williams, Emma Jaeger, Angela Jones, Kimberley Howarth, James Larkin, Lisa Pickering, Martin Gore, David L. Nicol, Steven Hazell, Gordon Stamp, Tim O’Brien, Ben Challacombe, Nik Matthews, Benjamin Phillimore, Sharmin Begum, Adam Rabinowitz, Ignacio Varela, Ashish Chandra, Catherine Horsfield, Alexander Polson, Maxine Tran, Rupesh Bhatt, Luigi Terracciano, Serenella Eppenberger-Castori, Andrew Protheroe, Eamonn Maher, Mona El Bahrawy, Stewart Fleming, Peter Ratcliffe, Karl Heinimann, Charles Swanton, Ian Tomlinson
Nat Commun. 2015 Mar 19; 6: 6336. Published online 2015 Mar 19. doi: 10.1038/ncomms7336
PMCID:
PMC4383019
AbstractArticlePDF–1.1M
16.
Genetic Study in a Case of Birt-Hogg-Dubé Syndrome
Geon Park, Hae Ryun Kim, Chan Ho Na, Kyu Chul Choi, Bong Seok Shin
Ann Dermatol. 2011 Oct; 23(Suppl 2): S188–S192. Published online 2011 Oct 31. doi: 10.5021/ad.2011.23.S2.S188
PMCID:
PMC3229062
AbstractArticlePDF–1.2M
17.
Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature
Hoa T Truong, Tracy Dudding, Christopher L Blanchard, Sarah H Elsea
BMC Med Genet. 2010; 11: 142. Published online 2010 Oct 8. doi: 10.1186/1471-2350-11-142
PMCID:
PMC2964533
AbstractArticlePDF–238K
18.
Estradiol Stimulates Vasodilatory and Metabolic Pathways in Cultured Human Endothelial Cells
Agua Sobrino, Manuel Mata, Andrés Laguna-Fernandez, Susana Novella, Pilar J. Oviedo, Miguel Angel García-Pérez, Juan J. Tarín, Antonio Cano, Carlos Hermenegildo
PLoS One. 2009; 4(12): e8242. Published online 2009 Dec 14. doi: 10.1371/journal.pone.0008242
PMCID:
PMC2785884
AbstractArticlePDF–708K
19.
Folliculin mutations are not associated with severe COPD
Michael H Cho, Barbara J Klanderman, Augusto A Litonjua, David Sparrow, Edwin K Silverman, Benjamin A Raby
BMC Med Genet. 2008; 9: 120. Published online 2008 Dec 30. doi: 10.1186/1471-2350-9-120
PMCID:
PMC2636779
AbstractArticlePDF–890K
20.
Programmed Genetic Instability: A Tumor-Permissive Mechanism for Maintaining the Evolvability of Higher Species through Methylation-Dependent Mutation of DNA Repair Genes in the Male Germ Line
Yongzhong Zhao, Richard J. Epstein
Mol Biol Evol. 2008 Aug; 25(8): 1737–1749. Published online 2008 Jun 4. doi: 10.1093/molbev/msn126
PMCID:
PMC2464741
AbstractArticlePDF–814K

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