sábado, 24 de febrero de 2018

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

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

Rare Diseases intertwined 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.







Dracatos PM, Haghdoust R, Singh D, Park RF.
New Phytol. 2018 Feb 21. doi: 10.1111/nph.15044. [Epub ahead of print]

PMID:
 
29464724
2.
Corbin LJ, Tan VY, Hughes DA, Wade KH, Paul DS, Tansey KE, Butcher F, Dudbridge F, Howson JM, Jallow MW, John C, Kingston N, Lindgren CM, O'Donavan M, O'Rahilly S, Owen MJ, Palmer CNA, Pearson ER, Scott RA, van Heel DA, Whittaker J, Frayling T, Tobin MD, Wain LV, Smith GD, Evans DM, Karpe F, McCarthy MI, Danesh J, Franks PW, Timpson NJ.
Nat Commun. 2018 Feb 19;9(1):711. doi: 10.1038/s41467-018-03109-y. Review.
3.
Derks JL, Leblay N, Lantuejoul S, Dingemans AM, Speel EJM, Fernandez-Cuesta L.
J Thorac Oncol. 2018 Feb 14. pii: S1556-0864(18)30097-2. doi: 10.1016/j.jtho.2018.02.002. [Epub ahead of print] Review.

PMID:
 
29454048
4.
Baudrand R, Vaidya A.
Int J Mol Sci. 2018 Feb 11;19(2). pii: E546. doi: 10.3390/ijms19020546. Review.

PMID:
 
29439489
 
Free Article
5.
Marucci S, Ragione LD, De Iaco G, Mococci T, Vicini M, Guastamacchia E, Triggiani V.
Endocr Metab Immune Disord Drug Targets. 2018 Feb 12. doi: 10.2174/1871530318666180213111637. [Epub ahead of print]

PMID:
 
29437020
6.
Griese M.
Eur Respir Rev. 2018 Feb 7;27(147). pii: 170100. doi: 10.1183/16000617.0100-2017. Print 2018 Mar 31. Review.

PMID:
 
29436403
 
Free Article
7.
Patterson MC, Clayton P, Gissen P, Anheim M, Bauer P, Bonnot O, Dardis A, Dionisi-Vici C, Klünemann HH, Latour P, Lourenço CM, Ory DS, Parker A, Pocoví M, Strupp M, Vanier MT, Walterfang M, Marquardt T.
Neurol Clin Pract. 2017 Dec;7(6):499-511. doi: 10.1212/CPJ.0000000000000399. Review.
8.
Chen J, Ma Y, Fan R, Yang Z, Li MD.
Mol Neurobiol. 2018 Feb 10. doi: 10.1007/s12035-018-0877-3. [Epub ahead of print] Review.

PMID:
 
29429049
9.
Toyoshima Y, Takahashi H.
Adv Exp Med Biol. 2018;1049:219-231. doi: 10.1007/978-3-319-71779-1_10.

PMID:
 
29427105
10.
Michałus I, Rusińska A.
Clin Genet. 2018 Feb 8. doi: 10.1111/cge.13229. [Epub ahead of print] Review.

PMID:
 
29417983
11.
Dardis A, Buratti E.
Genes (Basel). 2018 Feb 6;9(2). pii: E73. doi: 10.3390/genes9020073. Review.

PMID:
 
29415500
 
Free Article
12.
Di Meo I, Tiranti V.
Eur J Paediatr Neurol. 2018 Mar;22(2):272-284. doi: 10.1016/j.ejpn.2018.01.008. Epub 2018 Jan 17. Review.

PMID:
 
29409688
13.
Milner JD.
Rambam Maimonides Med J. 2018 Jan 29;9(1). doi: 10.5041/RMMJ.10326. Review.
14.
Stidham RA, Freeman DB, von Tersch RL, Sullivan PJ, Tostenson SD.
PLoS Curr. 2018 Jan 18;10. pii: ecurrents.outbreaks.8eb0b55f377abc2d250314bbb8fc9d6d. doi: 10.1371/currents.outbreaks.8eb0b55f377abc2d250314bbb8fc9d6d.
15.
Wright CF, FitzPatrick DR, Firth HV.
Nat Rev Genet. 2018 Feb 5. doi: 10.1038/nrg.2017.116. [Epub ahead of print] Review. Erratum in: Nat Rev Genet. 2018 Feb 19;:.

PMID:
 
29398702
16.
Guerra L, Castori M, Didona B, Castiglia D, Zambruno G.
J Eur Acad Dermatol Venereol. 2018 Feb 3. doi: 10.1111/jdv.14834. [Epub ahead of print] Review.

PMID:
 
29397027
17.
Agaimy A, Haller F, Hartmann A.
Pathologe. 2018 Feb;39(1):18-26. doi: 10.1007/s00292-018-0415-0. Review. German.

PMID:
 
29396607
18.
Reale C, Panteghini C, Carecchio M, Garavaglia B.
Eur J Paediatr Neurol. 2018 Mar;22(2):285-291. doi: 10.1016/j.ejpn.2018.01.013. Epub 2018 Jan 31. Review.

PMID:
 
29396176
19.
Khan KN, Robson A, Mahroo OAR, Arno G, Inglehearn CF, Armengol M, Waseem N, Holder GE, Carss KJ, Raymond LF, Webster AR, Moore AT, McKibbin M, van Genderen MM, Poulter JA, Michaelides M; UK Inherited Retinal Disease Consortium.
Eur J Hum Genet. 2018 Feb 1. doi: 10.1038/s41431-017-0082-2. [Epub ahead of print]

PMID:
 
29391521
20.
Gales A, Masingue M, Millecamps S, Giraudier S, Grosliere L, Adam C, Salim C, Navarro V, Nadjar Y.
Orphanet J Rare Dis. 2018 Feb 1;13(1):29. doi: 10.1186/s13023-018-0767-9. Review.

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