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Kantaputra mesomelic dysplasia: a second reported family.
Shears DJ, Offiah A, Rutland P, Sirimanna T, Bitner-Glindzicz M, Hall C. Shears DJ, et al. Am J Med Genet A. 2004 Jul 1;128A(1):6-11. doi: 10.1002/ajmg.a.20640. Am J Med Genet A. 2004. PMID: 15211647
A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes.
Idrees F, Bloch-Zupan A, Free SL, Vaideanu D, Thompson PJ, Ashley P, Brice G, Rutland P, Bitner-Glindzicz M, Khaw PT, Fraser S, Sisodiya SM, Sowden JC. Idrees F, et al. Am J Med Genet B Neuropsychiatr Genet. 2006 Mar 5;141B(2):184-91. doi: 10.1002/ajmg.b.30237. Am J Med Genet B Neuropsychiatr Genet. 2006. PMID: 16389592
Mutation analyses of Uroplakin II in children with renal tract malformations.
Jenkins D, Bitner-Glindzicz M, Malcolm S, Allison J, de Bruyn R, Flanagan S, Thomas DF, Belk RA, Feather SA, Bingham C, Southgate J, Woolf AS. Jenkins D, et al. Nephrol Dial Transplant. 2006 Dec;21(12):3415-21. doi: 10.1093/ndt/gfl465. Epub 2006 Sep 29. Nephrol Dial Transplant. 2006. PMID: 17012268
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene.
Bitner-Glindzicz M, Lindley KJ, Rutland P, Blaydon D, Smith VV, Milla PJ, Hussain K, Furth-Lavi J, Cosgrove KE, Shepherd RM, Barnes PD, O'Brien RE, Farndon PA, Sowden J, Liu XZ, Scanlan MJ, Malcolm S, Dunne MJ, Aynsley-Green A, Glaser B. Bitner-Glindzicz M, et al. Nat Genet. 2000 Sep;26(1):56-60. doi: 10.1038/79178. Nat Genet. 2000. PMID: 10973248
142 results