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Items: 1 to 20 of 61

1.

Molecular analysis of FGFR 2 and associated clinical observations in two Chinese families with Crouzon syndrome.

Lin Y, Gao H, Ai S, Eswarakumar JV, Li T, Liu B, Jiang H, Liu Y, Liu X, Li Y, Ni Y, Chen J, Lin Z, Liang X, Jin C, Huang X, Lu L, Liu Y.

Mol Med Rep. 2016 Sep;14(3):1941-6. doi: 10.3892/mmr.2016.5497. Epub 2016 Jul 11.

2.

A comprehensive in silico analysis of non-synonymous and regulatory SNPs of human MBL2 gene.

Kalia N, Sharma A, Kaur M, Kamboj SS, Singh J.

Springerplus. 2016 Jun 21;5(1):811. doi: 10.1186/s40064-016-2543-4. eCollection 2016.

3.

Analysis of SLC4A11, ZEB1, LOXHD1, COL8A2 and TCF4 gene sequences in a multi-generational family with late-onset Fuchs corneal dystrophy.

Tang H, Zhang W, Yan XM, Wang LP, Dong H, Shou T, Lei H, Guo Q.

Int J Mol Med. 2016 Jun;37(6):1487-500. doi: 10.3892/ijmm.2016.2570. Epub 2016 Apr 20.

4.

Complexity of vitamin E metabolism.

Schmölz L, Birringer M, Lorkowski S, Wallert M.

World J Biol Chem. 2016 Feb 26;7(1):14-43. doi: 10.4331/wjbc.v7.i1.14. Review.

5.

Genetic analysis of nonalcoholic fatty liver disease within a Caribbean-Hispanic population.

Edelman D, Kalia H, Delio M, Alani M, Krishnamurthy K, Abd M, Auton A, Wang T, Wolkoff AW, Morrow BE.

Mol Genet Genomic Med. 2015 Aug 11;3(6):558-69. doi: 10.1002/mgg3.168. eCollection 2015 Nov.

6.

SNPase-ARMS qPCR: Ultrasensitive Mutation-Based Detection of Cell-Free Tumor DNA in Melanoma Patients.

Stadler J, Eder J, Pratscher B, Brandt S, Schneller D, Müllegger R, Vogl C, Trautinger F, Brem G, Burgstaller JP.

PLoS One. 2015 Nov 12;10(11):e0142273. doi: 10.1371/journal.pone.0142273. eCollection 2015.

7.

Generation of Kcnma1fl-tdTomato, a conditional deletion of the BK channel α subunit in mouse.

Zemen BG, Lai MH, Whitt JP, Khan Z, Zhao G, Meredith AL.

Physiol Rep. 2015 Nov;3(11). pii: e12612. doi: 10.14814/phy2.12612.

8.

Circular RNA of the human sphingomyelin synthase 1 gene: Multiple splice variants, evolutionary conservatism and expression in different tissues.

Filippenkov IB, Sudarkina OY, Limborska SA, Dergunova LV.

RNA Biol. 2015;12(9):1030-42. doi: 10.1080/15476286.2015.1076611.

9.

The rs10993994 in the proximal MSMB promoter region is a functional polymorphism in Asian Indian subjects.

Mhatre DR, Mahale SD, Khatkhatay MI, Achrekar SK, Desai SS, Jagtap DD, Dhabalia JV, Tongaonkar HB, Dandekar SP, Varadkar AM.

Springerplus. 2015 Jul 28;4:380. doi: 10.1186/s40064-015-1164-7. eCollection 2015.

10.

Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description.

Battini R, Bertelloni S, Astrea G, Casarano M, Travaglini L, Baroncelli G, Pasquariello R, Bertini E, Cioni G.

BMC Med Genet. 2015 Jul 25;16:53. doi: 10.1186/s12881-015-0203-0.

11.

Do housekeeping genes exist?

Zhang Y, Li D, Sun B.

PLoS One. 2015 May 13;10(5):e0123691. doi: 10.1371/journal.pone.0123691. eCollection 2015.

12.

Identification of haplotype tag single nucleotide polymorphisms within the nuclear factor-κB family genes and their clinical relevance in patients with major trauma.

Pan W, Zhang AQ, Gu W, Gao JW, Du DY, Zhang LY, Zeng L, Du J, Wang HY, Jiang JX.

Crit Care. 2015 Mar 20;19:95. doi: 10.1186/s13054-015-0836-6.

13.
14.

Identification of structural DNA variations in human cell cultures after long-term passage.

Pavlova GV, Vergun AA, Rybalkina EY, Butovskaya PR, Ryskov AP.

Cell Cycle. 2015;14(2):200-5. doi: 10.4161/15384101.2014.974427.

15.

Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome.

Burns R, Majczenko K, Xu J, Peng W, Yapici Z, Dowling JJ, Li JZ, Burmeister M.

Neurology. 2014 Dec 2;83(23):2175-82. doi: 10.1212/WNL.0000000000001053. Epub 2014 Oct 31.

16.

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.

Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group.

Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22.

17.

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

Ansari M, Poke G, Ferry Q, Williamson K, Aldridge R, Meynert AM, Bengani H, Chan CY, Kayserili H, Avci S, Hennekam RC, Lampe AK, Redeker E, Homfray T, Ross A, Falkenberg Smeland M, Mansour S, Parker MJ, Cook JA, Splitt M, Fisher RB, Fryer A, Magee AC, Wilkie A, Barnicoat A, Brady AF, Cooper NS, Mercer C, Deshpande C, Bennett CP, Pilz DT, Ruddy D, Cilliers D, Johnson DS, Josifova D, Rosser E, Thompson EM, Wakeling E, Kinning E, Stewart F, Flinter F, Girisha KM, Cox H, Firth HV, Kingston H, Wee JS, Hurst JA, Clayton-Smith J, Tolmie J, Vogt J, Tatton-Brown K, Chandler K, Prescott K, Wilson L, Behnam M, McEntagart M, Davidson R, Lynch SA, Sisodiya S, Mehta SG, McKee SA, Mohammed S, Holden S, Park SM, Holder SE, Harrison V, McConnell V, Lam WK, Green AJ, Donnai D, Bitner-Glindzicz M, Donnelly DE, Nellåker C, Taylor MS, FitzPatrick DR.

J Med Genet. 2014 Oct;51(10):659-68. doi: 10.1136/jmedgenet-2014-102573. Epub 2014 Aug 14.

18.

Genome-wide RNAi screen identifies the Parkinson disease GWAS risk locus SREBF1 as a regulator of mitophagy.

Ivatt RM, Sanchez-Martinez A, Godena VK, Brown S, Ziviani E, Whitworth AJ.

Proc Natl Acad Sci U S A. 2014 Jun 10;111(23):8494-9. doi: 10.1073/pnas.1321207111. Epub 2014 May 27.

19.

Environmental toxicants perturb human Sertoli cell adhesive function via changes in F-actin organization mediated by actin regulatory proteins.

Xiao X, Mruk DD, Tang EI, Wong CK, Lee WM, John CM, Turek PJ, Silvestrini B, Cheng CY.

Hum Reprod. 2014 Jun;29(6):1279-91. doi: 10.1093/humrep/deu011. Epub 2014 Feb 13.

20.

Gene duplication and neofunctionalization: POLR3G and POLR3GL.

Renaud M, Praz V, Vieu E, Florens L, Washburn MP, l'Hôte P, Hernandez N.

Genome Res. 2014 Jan;24(1):37-51. doi: 10.1101/gr.161570.113. Epub 2013 Oct 9.

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