Akawi NA, Al-Gazali L, Ali BR. Clinical and molecular analysis of UAEfibrochondrogenesis patients expands the phenotype and reveals two COL11A1homozygous null mutations. Clin Genet. 2012 Aug;82(2):147-56. doi:10.1111/j.1399-0004.2011.01734.x.
Akawi NA, Ali BR, Al-Gazali L. A response to Dr. Alzahrani's letter to theeditor regarding the mechanism underlying fibrochondrogenesis. Gene. 2013 Oct10;528(2):367-8. doi: 10.1016/j.gene.2013.07.038.
Alzahrani F, Alshammari MJ, Alkuraya FS. Molecular pathogenesis offibrochondrogenesis: is it really simple COL11A1 deficiency? Gene. 2012 Dec15;511(2):480-1. doi: 10.1016/j.gene.2012.09.069.
Annunen S, Körkkö J, Czarny M, Warman ML, Brunner HG, Kääriäinen H, MullikenJB, Tranebjaerg L, Brooks DG, Cox GF, Cruysberg JR, Curtis MA, Davenport SL,Friedrich CA, Kaitila I, Krawczynski MR, Latos-Bielenska A, Mukai S, Olsen BR,Shinno N, Somer M, Vikkula M, Zlotogora J, Prockop DJ, Ala-Kokko L. Splicingmutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but othermutations cause overlapping Marshall/Stickler phenotypes. Am J Hum Genet. 1999Oct;65(4):974-83.
Majava M, Hoornaert KP, Bartholdi D, Bouma MC, Bouman K, Carrera M, Devriendt K, Hurst J, Kitsos G, Niedrist D, Petersen MB, Shears D, Stolte-Dijkstra I, VanHagen JM, Ala-Kokko L, Männikkö M, Mortier GR. A report on 10 new patients withheterozygous mutations in the COL11A1 gene and a review of genotype-phenotypecorrelations in type XI collagenopathies. Am J Med Genet A. 2007 Feb1;143A(3):258-64.
Rodriguez-Fontenla C, Calaza M, Evangelou E, Valdes AM, Arden N, Blanco FJ,Carr A, Chapman K, Deloukas P, Doherty M, Esko T, Garcés Aletá CM, Gomez-ReinoCarnota JJ, Helgadottir H, Hofman A, Jonsdottir I, Kerkhof HJ, Kloppenburg M,McCaskie A, Ntzani EE, Ollier WE, Oreiro N, Panoutsopoulou K, Ralston SH, RamosYF, Riancho JA, Rivadeneira F, Slagboom PE, Styrkarsdottir U, Thorsteinsdottir U,Thorleifsson G, Tsezou A, Uitterlinden AG, Wallis GA, Wilkinson JM, Zhai G, ZhuY; arcOGEN Consortium, Felson DT, Ioannidis JP, Loughlin J, Metspalu A,Meulenbelt I, Stefansson K, van Meurs JB, Zeggini E, Spector TD, Gonzalez A.Assessment of osteoarthritis candidate genes in a meta-analysis of ninegenome-wide association studies. Arthritis Rheumatol. 2014 Apr;66(4):940-9. doi: 10.1002/art.38300.
Tompson SW, Bacino CA, Safina NP, Bober MB, Proud VK, Funari T, Wangler MF,Nevarez L, Ala-Kokko L, Wilcox WR, Eyre DR, Krakow D, Cohn DH.Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene. Am J Hum Genet. 2010 Nov 12;87(5):708-12. doi: 10.1016/j.ajhg.2010.10.009.
You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
OK
Confirm
Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?