Super M - Search Results

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: super m. 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.

2

The association of Angelman's syndrome with deletions within 15q11-13.

Pembrey M, Fennell SJ, van den Berghe J, Fitchett M, Summers D, Butler L, Clarke C, Griffiths M, Thompson E, Super M. Pembrey M, et al. Among authors: super m. J Med Genet. 1989 Feb;26(2):73-7. doi: 10.1136/jmg.26.2.73. J Med Genet. 1989. PMID: 2918545 Free PMC article.

3

Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations.

Perveen R, Lloyd IC, Clayton-Smith J, Churchill A, van Heyningen V, Hanson I, Taylor D, McKeown C, Super M, Kerr B, Winter R, Black GC. Perveen R, et al. Among authors: super m. Invest Ophthalmol Vis Sci. 2000 Aug;41(9):2456-60. Invest Ophthalmol Vis Sci. 2000. PMID: 10937553

4

Down syndrome with partial duplication and del (21) syndrome: study protocol and call for collaboration. Study I: Clinical assessment.

Barnicoat AJ, Bonneau JL, Boyd E, Docherty Z, Fennell SJ, Huret JL, King M, Maltby EL, McManus S, Pilz DT, Shafei-Benaissa E, Super M, Tolmie J. Barnicoat AJ, et al. Among authors: super m. Clin Genet. 1996 Jan;49(1):20-7. doi: 10.1111/j.1399-0004.1996.tb04319.x. Clin Genet. 1996. PMID: 8721567

5

A genetic register for von Hippel-Lindau disease.

Maddock IR, Moran A, Maher ER, Teare MD, Norman A, Payne SJ, Whitehouse R, Dodd C, Lavin M, Hartley N, Super M, Evans DG. Maddock IR, et al. Among authors: super m. J Med Genet. 1996 Feb;33(2):120-7. doi: 10.1136/jmg.33.2.120. J Med Genet. 1996. PMID: 8929948 Free PMC article.

6

Localisation of human alpha globin to 16p13.3----pter.

Buckle VJ, Higgs DR, Wilkie AO, Super M, Weatherall DJ. Buckle VJ, et al. Among authors: super m. J Med Genet. 1988 Dec;25(12):847-9. doi: 10.1136/jmg.25.12.847. J Med Genet. 1988. PMID: 3236367 Free PMC article.

7

Familial patent ductus arteriosus: a further case of CHAR syndrome.

Slavotinek A, Clayton-Smith J, Super M. Slavotinek A, et al. Among authors: super m. Am J Med Genet. 1997 Aug 8;71(2):229-32. Am J Med Genet. 1997. PMID: 9217229

8

A clinical study of type 1 neurofibromatosis in north west England.

McGaughran JM, Harris DI, Donnai D, Teare D, MacLeod R, Westerbeek R, Kingston H, Super M, Harris R, Evans DG. McGaughran JM, et al. Among authors: super m. J Med Genet. 1999 Mar;36(3):197-203. J Med Genet. 1999. PMID: 10204844 Free PMC article.

9

A novel 5q11.2 deletion detected by microarray comparative genomic hybridisation in a child referred as a case of suspected 22q11 deletion syndrome.

Prescott K, Woodfine K, Stubbs P, Super M, Kerr B, Palmer R, Carter NP, Scambler P. Prescott K, et al. Among authors: super m. Hum Genet. 2005 Jan;116(1-2):83-90. doi: 10.1007/s00439-004-1195-6. Epub 2004 Nov 10. Hum Genet. 2005. PMID: 15549396

10

The fragile X syndrome.

Hirst MC, Knight SJ, Bell MV, Super M, Davies KE. Hirst MC, et al. Among authors: super m. Clin Sci (Lond). 1992 Sep;83(3):255-64. doi: 10.1042/cs0830255. Clin Sci (Lond). 1992. PMID: 1327643

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