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Literature DB >> 28139434

Synchronous Bilateral Breast Cancer in a Patient With Nager Syndrome.

Ryan A Denu¹, Mark E Burkard².

Abstract

Entities: Chemical Disease Gene Mutation Species

Keywords: SAP49; SF3B4; Spliceosome; Splicing; c.1060dupC

Mesh：

Substances：

Year: 2017 PMID： 28139434 PMCID： PMC5446269 DOI： 10.1016/j.clbc.2016.12.009

Source DB: PubMed Journal: Clin Breast Cancer ISSN： 1526-8209 Impact factor: 3.225

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22 in total

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Authors: Monika M Golas; Bjoern Sander; Cindy L Will; Reinhard Lührmann; Holger Stark
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3. Airway management in Nager Syndrome.

Authors: Allen S Ho; Pedram Aleshi; Sheila E Cohen; Peter J Koltai; Alan G Cheng
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Review 4. Temporomandibular joint replacement for ankylosis correction in Nager syndrome: case report and review of the literature.

Authors: Thomas Schlieve; Maha Almusa; Michael Miloro; Antonia Kolokythas
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6. Frequent pathway mutations of splicing machinery in myelodysplasia.

Authors: Kenichi Yoshida; Masashi Sanada; Yuichi Shiraishi; Daniel Nowak; Yasunobu Nagata; Ryo Yamamoto; Yusuke Sato; Aiko Sato-Otsubo; Ayana Kon; Masao Nagasaki; George Chalkidis; Yutaka Suzuki; Masashi Shiosaka; Ryoichiro Kawahata; Tomoyuki Yamaguchi; Makoto Otsu; Naoshi Obara; Mamiko Sakata-Yanagimoto; Ken Ishiyama; Hiraku Mori; Florian Nolte; Wolf-Karsten Hofmann; Shuichi Miyawaki; Sumio Sugano; Claudia Haferlach; H Phillip Koeffler; Lee-Yung Shih; Torsten Haferlach; Shigeru Chiba; Hiromitsu Nakauchi; Satoru Miyano; Seishi Ogawa
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8. Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.

Authors: J C Czeschik; C Voigt; Y Alanay; B Albrecht; S Avci; D Fitzpatrick; D R Goudie; U Hehr; A J Hoogeboom; H Kayserili; P O Simsek-Kiper; L Klein-Hitpass; A Kuechler; V López-González; M Martin; S Rahmann; B Schweiger; M Splitt; B Wollnik; H-J Lüdecke; M Zeschnigk; D Wieczorek
Journal: Hum Genet Date: 2013-04-09 Impact factor: 4.132

9. The zebrafish sf3b1b460 mutant reveals differential requirements for the sf3b1 pre-mRNA processing gene during neural crest development.

Authors: Min An; Paul D Henion
Journal: Int J Dev Biol Date: 2012 Impact factor: 2.203

10. COSMIC: exploring the world's knowledge of somatic mutations in human cancer.

Authors: Simon A Forbes; David Beare; Prasad Gunasekaran; Kenric Leung; Nidhi Bindal; Harry Boutselakis; Minjie Ding; Sally Bamford; Charlotte Cole; Sari Ward; Chai Yin Kok; Mingming Jia; Tisham De; Jon W Teague; Michael R Stratton; Ultan McDermott; Peter J Campbell
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3 in total