Super M - Search Results

1

Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein.

Watson P, Black G, Ramsden S, Barrow M, Super M, Kerr B, Clayton-Smith J. Watson P, et al. Among authors: super m. J Med Genet. 2001 Apr;38(4):224-8. doi: 10.1136/jmg.38.4.224. J Med Genet. 2001. PMID: 11283202 Free PMC article.

2

Testing for cystic fibrosis using allelic association.

Ivinson AJ, Read AP, Harris R, Super M, Schwarz M, Clayton Smith J, Elles R. Ivinson AJ, et al. Among authors: super m. J Med Genet. 1989 Jul;26(7):426-30. doi: 10.1136/jmg.26.7.426. J Med Genet. 1989. PMID: 2746614 Free PMC article.

3

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

4

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

5

Macrocephaly with cutis marmorata, haemangioma and syndactyly--a distinctive overgrowth syndrome.

Clayton-Smith J, Kerr B, Brunner H, Tranebjaerg L, Magee A, Hennekam RC, Mueller RF, Brueton L, Super M, Steen-Johnsen J, Donnai D. Clayton-Smith J, et al. Among authors: super m. Clin Dysmorphol. 1997 Oct;6(4):291-302. doi: 10.1097/00019605-199710000-00001. Clin Dysmorphol. 1997. PMID: 9354837

6

Sibs with developmental delay, hirsutism and nail hypoplasia: a new syndrome.

Stewart H, Kerr B, Tomlin P, Stacey D, Super M. Stewart H, et al. Among authors: super m. Clin Dysmorphol. 2000 Oct;9(4):241-6. doi: 10.1097/00019605-200009040-00002. Clin Dysmorphol. 2000. PMID: 11045578

7

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.

8

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

9

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.

10

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.

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