lunes, 15 de octubre de 2018

Rare diseases AND (genetic OR genomic) AND review - PubMed - NCBI

Rare diseases AND (genetic OR genomic) AND review - PubMed - NCBI

rare diseases with DNA



From PubMed

PubMed comprises more than 27 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.





Baynam G, Bowman F, Lister K, Walker CE, Pachter N, Goldblatt J, Boycott KM, Gahl WA, Kosaki K, Adachi T, Ishii K, Mahede T, McKenzie F, Townshend S, Slee J, Kiraly-Borri C, Vasudevan A, Hawkins A, Broley S, Schofield L, Verhoef H, Groza T, Zankl A, Robinson PN, Haendel M, Brudno M, Mattick JS, Dinger ME, Roscioli T, Cowley MJ, Olry A, Hanauer M, Alkuraya FS, Taruscio D, Posada de la Paz M, Lochmüller H, Bushby K, Thompson R, Hedley V, Lasko P, Mina K, Beilby J, Tifft C, Davis M, Laing NG, Julkowska D, Le Cam Y, Terry SF, Kaufmann P, Eerola I, Norstedt I, Rath A, Suematsu M, Groft SC, Austin CP, Draghia-Akli R, Weeramanthri TS, Molster C, Dawkins HJS.
Adv Exp Med Biol. 2017;1031:55-94. doi: 10.1007/978-3-319-67144-4_4. Review.

PMID:
 
29214566
2.
Sun W, Zheng W, Simeonov A.
Am J Med Genet A. 2017 Sep;173(9):2307-2322. doi: 10.1002/ajmg.a.38326. Epub 2017 Jul 21. Review.
3.
Danielsson K, Mun LJ, Lordemann A, Mao J, Lin CH.
Expert Rev Mol Diagn. 2014 May;14(4):469-87. doi: 10.1586/14737159.2014.904749. Epub 2014 Apr 4. Review.

PMID:
 
24702023
4.
Matilla-Dueñas A, Corral-Juan M, Rodríguez-Palmero Seuma A, Vilas D, Ispierto L, Morais S, Sequeiros J, Alonso I, Volpini V, Serrano-Munuera C, Pintos-Morell G, Álvarez R, Sánchez I.
Adv Exp Med Biol. 2017;1031:443-496. doi: 10.1007/978-3-319-67144-4_25. Review.

PMID:
 
29214587
5.
Baynam G, Molster C, Bauskis A, Kowal E, Savarirayan R, Kelaher M, Easteal S, Massey L, Garvey G, Goldblatt J, Pachter N, Weeramanthri TS, Dawkins HJS.
Adv Exp Med Biol. 2017;1031:511-520. doi: 10.1007/978-3-319-67144-4_27. Review.

PMID:
 
29214589
6.
Schork NJ, Nazor K.
Adv Genet. 2017;97:81-113. doi: 10.1016/bs.adgen.2017.06.001. Epub 2017 Jul 25. Review.

PMID:
 
28838357
7.
Liu Z, Fang H, Slikker W, Tong W.
Trends Pharmacol Sci. 2016 Oct;37(10):843-857. doi: 10.1016/j.tips.2016.06.010. Epub 2016 Jul 22. Review.

PMID:
 
27461952
8.
Schee Genannt Halfmann S, Mählmann L, Leyens L, Reumann M, Brand A.
Adv Exp Med Biol. 2017;1031:387-404. doi: 10.1007/978-3-319-67144-4_22. Review.

PMID:
 
29214584
9.
Pulciani S, Vittozzi A, Diemoz S, Nutile E, Taruscio D.
Recenti Prog Med. 2017 Jul-Aug;108(7):307-315. doi: 10.1701/2731.27836. Review. Italian.

PMID:
 
28845852
10.
Mavilio F.
Gene Ther. 2017 Sep;24(9):590-592. doi: 10.1038/gt.2017.36. Epub 2017 May 25. Review.

PMID:
 
28485723
11.
Mendlovic J, Barash H, Yardeni H, Banet-Levi Y, Yonath H, Raas-Rothschild A.
Harefuah. 2016 Apr;155(4):241-4, 253. Review. Hebrew.

PMID:
 
27323543
12.
Manolio TA.
Atherosclerosis. 2016 Oct;253:225-236. doi: 10.1016/j.atherosclerosis.2016.08.034. Epub 2016 Aug 26. Review.
13.
Livnat T, Barg AA, Levy-Mendelovich S, Kenet G.
Blood Cells Mol Dis. 2017 Sep;67:63-68. doi: 10.1016/j.bcmd.2017.02.003. Epub 2017 Feb 14. Review.

PMID:
 
28222949
14.
Brown TL, Meloche TM.
Genomics. 2016 Oct;108(3-4):109-114. doi: 10.1016/j.ygeno.2016.06.003. Epub 2016 Jul 4. Review.

PMID:
 
27387609
15.
Steinhagen-Thiessen E, Stroes E, Soran H, Johnson C, Moulin P, Iotti G, Zibellini M, Ossenkoppele B, Dippel M, Averna MR; GENIALL Investigators.
Atherosclerosis. 2017 Jul;262:146-153. doi: 10.1016/j.atherosclerosis.2016.08.023. Epub 2016 Aug 21. Review.

PMID:
 
28284702
16.
Nguyen MT, Charlebois K.
Clin Genet. 2015 Oct;88(4):313-9. doi: 10.1111/cge.12546. Epub 2015 Jan 6. Review.

PMID:
 
25421945
17.
Castro R, Senecat J, de Chalendar M, Vajda I, Dan D, Boncz B; EURORDIS Social Policy Advisory Group.
Adv Exp Med Biol. 2017;1031:605-627. doi: 10.1007/978-3-319-67144-4_32. Review.

PMID:
 
29214594
18.
Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, Brookes AJ, Brudno M, Carracedo A, den Dunnen JT, Dyke SOM, Estivill X, Goldblatt J, Gonthier C, Groft SC, Gut I, Hamosh A, Hieter P, Höhn S, Hurles ME, Kaufmann P, Knoppers BM, Krischer JP, Macek M Jr, Matthijs G, Olry A, Parker S, Paschall J, Philippakis AA, Rehm HL, Robinson PN, Sham PC, Stefanov R, Taruscio D, Unni D, Vanstone MR, Zhang F, Brunner H, Bamshad MJ, Lochmüller H.
Am J Hum Genet. 2017 May 4;100(5):695-705. doi: 10.1016/j.ajhg.2017.04.003.
19.
Tran C, Serratrice J, Nuoffer JM, Schaller A, Favrat B, Barbey F, Lobrinus JA, Kern I, Kuntzer T, Ballhausen D.
Rev Med Suisse. 2017 Jan 18;13(546):159-163. Review. French.

PMID:
 
28703515
 
Free Article
20.
Dharssi S, Wong-Rieger D, Harold M, Terry S.
Orphanet J Rare Dis. 2017 Mar 31;12(1):63. doi: 10.1186/s13023-017-0618-0. Review.

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