Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 25


Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness.

Xia W, Liu F, Ma D.

Front Med. 2016 Jun;10(2):137-42. doi: 10.1007/s11684-016-0449-8. Epub 2016 May 3. Review.


Carpal tunnel syndrome: The role of collagen gene variants.

Dada S, Burger MC, Massij F, de Wet H, Collins M.

Gene. 2016 Aug 1;587(1):53-8. doi: 10.1016/j.gene.2016.04.030. Epub 2016 Apr 14.


Semantic interrogation of a multi knowledge domain ontological model of tendinopathy identifies four strong candidate risk genes.

Saunders CJ, Jalali Sefid Dashti M, Gamieldien J.

Sci Rep. 2016 Jan 25;6:19820. doi: 10.1038/srep19820.


Integrative DNA methylome analysis of pan-cancer biomarkers in cancer discordant monozygotic twin-pairs.

Roos L, van Dongen J, Bell CG, Burri A, Deloukas P, Boomsma DI, Spector TD, Bell JT.

Clin Epigenetics. 2016 Jan 20;8:7. doi: 10.1186/s13148-016-0172-y. eCollection 2016.


A polygenic burden of rare variants across extracellular matrix genes among individuals with adolescent idiopathic scoliosis.

Haller G, Alvarado D, Mccall K, Yang P, Cruchaga C, Harms M, Goate A, Willing M, Morcuende JA, Baschal E, Miller NH, Wise C, Dobbs MB, Gurnett CA.

Hum Mol Genet. 2016 Jan 1;25(1):202-9. doi: 10.1093/hmg/ddv463. Epub 2015 Nov 12.


Identification of genes associated with osteoarthritis by microarray analysis.

Sun J, Yan B, Yin W, Zhang X.

Mol Med Rep. 2015 Oct;12(4):5211-6. doi: 10.3892/mmr.2015.4048. Epub 2015 Jul 7.


The landscape of copy number variations in Finnish families with autism spectrum disorders.

Kanduri C, Kantojärvi K, Salo PM, Vanhala R, Buck G, Blancher C, Lähdesmäki H, Järvelä I.

Autism Res. 2016 Jan;9(1):9-16. doi: 10.1002/aur.1502. Epub 2015 Jun 6.


A novel mutation of EYA4 in a large Chinese family with autosomal dominant middle-frequency sensorineural hearing loss by targeted exome sequencing.

Sun Y, Zhang Z, Cheng J, Lu Y, Yang CL, Luo YY, Yang G, Yang H, Zhu L, Zhou J, Yao HQ.

J Hum Genet. 2015 Jun;60(6):299-304. doi: 10.1038/jhg.2015.19. Epub 2015 Mar 26.


Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan.

Nishio SY, Usami S.

Ann Otol Rhinol Laryngol. 2015 May;124 Suppl 1:49S-60S. doi: 10.1177/0003489415575059. Epub 2015 Mar 18.


Non-ocular Stickler syndrome with a novel mutation in COL11A2 diagnosed by massively parallel sequencing in Japanese hearing loss patients.

Iwasa Y, Moteki H, Hattori M, Sato R, Nishio SY, Takumi Y, Usami S.

Ann Otol Rhinol Laryngol. 2015 May;124 Suppl 1:111S-7S. doi: 10.1177/0003489415575044. Epub 2015 Mar 16.


Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.

Chakchouk I, Grati M, Bademci G, Bensaid M, Ma Q, Chakroun A, Foster J 2nd, Yan D, Duman D, Diaz-Horta O, Ghorbel A, Mittal R, Farooq A, Tekin M, Masmoudi S, Liu XZ.

Mol Genet Genomics. 2015 Aug;290(4):1327-34. doi: 10.1007/s00438-015-0995-9. Epub 2015 Jan 30.


Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing.

Acke FR, Malfait F, Vanakker OM, Steyaert W, De Leeneer K, Mortier G, Dhooge I, De Paepe A, De Leenheer EM, Coucke PJ.

Mol Genet Metab. 2014 Nov;113(3):230-5. doi: 10.1016/j.ymgme.2014.09.001. Epub 2014 Sep 8.


Genome-wide DNA methylation study identifies significant epigenomic changes in osteoarthritic cartilage.

Jeffries MA, Donica M, Baker LW, Stevenson ME, Annan AC, Humphrey MB, James JA, Sawalha AH.

Arthritis Rheumatol. 2014 Oct;66(10):2804-15. doi: 10.1002/art.38762.


Differences in meiotic recombination rates in childhood acute lymphoblastic leukemia at an MHC class II hotspot close to disease associated haplotypes.

Thompson P, Urayama K, Zheng J, Yang P, Ford M, Buffler P, Chokkalingam A, Lightfoot T, Taylor M.

PLoS One. 2014 Jun 24;9(6):e100480. doi: 10.1371/journal.pone.0100480. eCollection 2014.


Differentiation of stem cells from human infrapatellar fat pad: characterization of cells undergoing chondrogenesis.

Felimban R, Ye K, Traianedes K, Di Bella C, Crook J, Wallace GG, Quigley A, Choong PF, Myers DE.

Tissue Eng Part A. 2014 Aug;20(15-16):2213-23. doi: 10.1089/ten.tea.2013.0657. Epub 2014 Mar 21.


Similar phenotypes caused by mutations in OTOG and OTOGL.

Oonk AM, Leijendeckers JM, Huygen PL, Schraders M, del Campo M, del Castillo I, Tekin M, Feenstra I, Beynon AJ, Kunst HP, Snik AF, Kremer H, Admiraal RJ, Pennings RJ.

Ear Hear. 2014 May-Jun;35(3):e84-91. doi: 10.1097/AUD.0000000000000008.


Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene.

Faletra F, D'Adamo AP, Bruno I, Athanasakis E, Biskup S, Esposito L, Gasparini P.

Am J Med Genet A. 2014 Jan;164A(1):42-7. doi: 10.1002/ajmg.a.36165. Epub 2013 Nov 22.


Direct induction of chondrogenic cells from human dermal fibroblast culture by defined factors.

Outani H, Okada M, Yamashita A, Nakagawa K, Yoshikawa H, Tsumaki N.

PLoS One. 2013 Oct 16;8(10):e77365. doi: 10.1371/journal.pone.0077365. eCollection 2013.


Diagnostic application of targeted resequencing for familial nonsyndromic hearing loss.

Choi BY, Park G, Gim J, Kim AR, Kim BJ, Kim HS, Park JH, Park T, Oh SH, Han KH, Park WY.

PLoS One. 2013 Aug 22;8(8):e68692. doi: 10.1371/journal.pone.0068692. eCollection 2013.


Genetics and heritability of cervical spondylotic myelopathy and ossification of the posterior longitudinal ligament: results of a systematic review.

Wilson JR, Patel AA, Brodt ED, Dettori JR, Brodke DS, Fehlings MG.

Spine (Phila Pa 1976). 2013 Oct 15;38(22 Suppl 1):S123-46. doi: 10.1097/BRS.0b013e3182a7f478. Review.


Supplemental Content

Loading ...
Support Center