Knight SJ - Search Results

1

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

Koolen DA, Vissers LE, Pfundt R, de Leeuw N, Knight SJ, Regan R, Kooy RF, Reyniers E, Romano C, Fichera M, Schinzel A, Baumer A, Anderlid BM, Schoumans J, Knoers NV, van Kessel AG, Sistermans EA, Veltman JA, Brunner HG, de Vries BB. Koolen DA, et al. Among authors: knight sj. Nat Genet. 2006 Sep;38(9):999-1001. doi: 10.1038/ng1853. Epub 2006 Aug 13. Nat Genet. 2006. PMID: 16906164

2

PPM-X: a new X-linked mental retardation syndrome with psychosis, pyramidal signs, and macroorchidism maps to Xq28.

Lindsay S, Splitt M, Edney S, Berney TP, Knight SJ, Davies KE, O'Brien O, Gale M, Burn J. Lindsay S, et al. Among authors: knight sj. Am J Hum Genet. 1996 Jun;58(6):1120-6. Am J Hum Genet. 1996. PMID: 8651288 Free PMC article.

3

Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres.

Knight SJ, Horsley SW, Regan R, Lawrie NM, Maher EJ, Cardy DL, Flint J, Kearney L. Knight SJ, et al. Eur J Hum Genet. 1997 Jan-Feb;5(1):1-8. Eur J Hum Genet. 1997. PMID: 9156314

4

Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres.

Slavotinek A, Rosenberg M, Knight S, Gaunt L, Fergusson W, Killoran C, Clayton-Smith J, Kingston H, Campbell RH, Flint J, Donnai D, Biesecker L. Slavotinek A, et al. J Med Genet. 1999 May;36(5):405-11. J Med Genet. 1999. PMID: 10353788 Free PMC article.

5

Subtle chromosomal rearrangements in children with unexplained mental retardation.

Knight SJ, Regan R, Nicod A, Horsley SW, Kearney L, Homfray T, Winter RM, Bolton P, Flint J. Knight SJ, et al. Lancet. 1999 Nov 13;354(9191):1676-81. doi: 10.1016/S0140-6736(99)03070-6. Lancet. 1999. PMID: 10568569

6

Neurodevelopmental profile of a new dysmorphic syndrome associated with submicroscopic partial deletion of 1p36.3.

Knight-Jones E, Knight S, Heussler H, Regan R, Flint J, Martin K. Knight-Jones E, et al. Dev Med Child Neurol. 2000 Mar;42(3):201-6. doi: 10.1017/s0012162200000347. Dev Med Child Neurol. 2000. PMID: 10755460 Free article.

7

A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome.

de Vries BB, Bitner-Glindzicz M, Knight SJ, Tyson J, MacDermont KD, Flint J, Malcolm S, Winter RM. de Vries BB, et al. Among authors: knight sj. Clin Genet. 2000 Dec;58(6):483-7. doi: 10.1034/j.1399-0004.2000.580610.x. Clin Genet. 2000. PMID: 11149619

8

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.

9

Submicroscopic 8pter deletion, mild mental retardation, and behavioral problems caused by a familial t(8;20)(p23;p13).

de Vries BB, Lees M, Knight SJ, Regan R, Corney D, Flint J, Barnicoat A, Winter RM. de Vries BB, et al. Among authors: knight sj. Am J Med Genet. 2001 Apr 1;99(4):314-9. doi: 10.1002/ajmg.1182. Am J Med Genet. 2001. PMID: 11251999

10

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.

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