Super M - Search Results

1

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

2

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.

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

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

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

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.

7

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.

8

Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C).

Malone G, Haworth A, Schwarz MJ, Cuppens H, Super M. Malone G, et al. Among authors: super m. Hum Mutat. 1998;11(2):152-7. doi: 10.1002/(SICI)1098-1004(1998)11:2<152::AID-HUMU8>3.0.CO;2-L. Hum Mutat. 1998. PMID: 9482579

9

Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene.

Hudson J, Wu CL, Tassabehji M, Summers EM, Simon S, Super M, Donnai D, Thakker N. Hudson J, et al. Among authors: super m. Hum Mutat. 1997;9(4):366-7. doi: 10.1002/(SICI)1098-1004(1997)9:4<366::AID-HUMU12>3.0.CO;2-0. Hum Mutat. 1997. PMID: 9101300 No abstract available.

10

Velocardiofacial syndrome.

Pike AC, Super M. Pike AC, et al. Among authors: super m. Postgrad Med J. 1997 Dec;73(866):771-5. doi: 10.1136/pgmj.73.866.771. Postgrad Med J. 1997. PMID: 9497944 Free PMC article. Review.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

151 results

Search Page