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Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.
Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJ, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LE, Destrée A, Grisart B, Rooms L, Van der Aa N, Field M, Hackett A, Bell K, Nowaczyk MJ, Mancini GM, Poddighe PJ, Schwartz CE, Rossi E, De Gregori M, Antonacci-Fulton LL, McLellan MD 2nd, Garrett JM, Wiechert MA, Miner TL, Crosby S, Ciccone R, Willatt L, Rauch A, Zenker M, Aradhya S, Manning MA, Strom TM, Wagenstaller J, Krepischi-Santos AC, Vianna-Morgante AM, Rosenberg C, Price SM, Stewart H, Shaw-Smith C, Brunner HG, Wilkie AO, Veltman JA, Zuffardi O, Eichler EE, de Vries BB. Koolen DA, et al. Among authors: knight sj. J Med Genet. 2008 Nov;45(11):710-20. doi: 10.1136/jmg.2008.058701. Epub 2008 Jul 15. J Med Genet. 2008. PMID: 18628315 Free PMC article.
Molecular studies of the fragile X syndrome.
Knight SJ, Hirst MC, Roche A, Christodoulou Z, Huson SM, Winter R, Fitchett M, McKinley MJ, Lindenbaum RH, Nakahori Y, et al. Knight SJ, et al. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):217-23. doi: 10.1002/ajmg.1320430135. Am J Med Genet. 1992. PMID: 1605194
Genotype prediction in the fragile X syndrome.
Hirst MC, Nakahori Y, Knight SJ, Schwartz C, Thibodeau SN, Roche A, Flint TJ, Connor JM, Fryns JP, Davies KE. Hirst MC, et al. Among authors: knight sj. J Med Genet. 1991 Dec;28(12):824-9. doi: 10.1136/jmg.28.12.824. J Med Genet. 1991. PMID: 1757957 Free PMC article.
Molecular heterogeneity of the fragile X syndrome.
Nakahori Y, Knight SJ, Holland J, Schwartz C, Roche A, Tarleton J, Wong S, Flint TJ, Froster-Iskenius U, Bentley D, et al. Nakahori Y, et al. Among authors: knight sj. Nucleic Acids Res. 1991 Aug 25;19(16):4355-9. doi: 10.1093/nar/19.16.4355. Nucleic Acids Res. 1991. PMID: 1886762 Free PMC article.
Clinical studies on submicroscopic subtelomeric rearrangements: a checklist.
de Vries BB, White SM, Knight SJ, Regan R, Homfray T, Young ID, Super M, McKeown C, Splitt M, Quarrell OW, Trainer AH, Niermeijer MF, Malcolm S, Flint J, Hurst JA, Winter RM. de Vries BB, et al. Among authors: knight sj. J Med Genet. 2001 Mar;38(3):145-50. doi: 10.1136/jmg.38.3.145. J Med Genet. 2001. PMID: 11238680 Free PMC article.
Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?
De Vries BB, Knight SJ, Homfray T, Smithson SF, Flint J, Winter RM. De Vries BB, et al. Among authors: knight sj. J Med Genet. 2001 Mar;38(3):175-8. doi: 10.1136/jmg.38.3.175. J Med Genet. 2001. PMID: 11303509 Free PMC article. No abstract available.
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.
Sharp AJ, Hansen S, Selzer RR, Cheng Z, Regan R, Hurst JA, Stewart H, Price SM, Blair E, Hennekam RC, Fitzpatrick CA, Segraves R, Richmond TA, Guiver C, Albertson DG, Pinkel D, Eis PS, Schwartz S, Knight SJ, Eichler EE. Sharp AJ, et al. Among authors: knight sj. Nat Genet. 2006 Sep;38(9):1038-42. doi: 10.1038/ng1862. Epub 2006 Aug 13. Nat Genet. 2006. PMID: 16906162
240 results