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Page 1
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: winter rm. 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: winter rm. 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.
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
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium; Rahman N. Tatton-Brown K, et al. Am J Med Genet A. 2013 Dec;161A(12):2972-80. doi: 10.1002/ajmg.a.36229. Epub 2013 Nov 8. Am J Med Genet A. 2013. PMID: 24214728 Free article.
Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features.
Shaw-Smith C, Redon R, Rickman L, Rio M, Willatt L, Fiegler H, Firth H, Sanlaville D, Winter R, Colleaux L, Bobrow M, Carter NP. Shaw-Smith C, et al. J Med Genet. 2004 Apr;41(4):241-8. doi: 10.1136/jmg.2003.017731. J Med Genet. 2004. PMID: 15060094 Free PMC article.
251 results