Kerr B - Search Results

1

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

Kerr B, Delrue MA, Sigaudy S, Perveen R, Marche M, Burgelin I, Stef M, Tang B, Eden OB, O'Sullivan J, De Sandre-Giovannoli A, Reardon W, Brewer C, Bennett C, Quarell O, M'Cann E, Donnai D, Stewart F, Hennekam R, Cavé H, Verloes A, Philip N, Lacombe D, Levy N, Arveiler B, Black G. Kerr B, et al. J Med Genet. 2006 May;43(5):401-5. doi: 10.1136/jmg.2005.040352. Epub 2006 Jan 27. J Med Genet. 2006. PMID: 16443854 Free PMC article.

2

Rothmund-Thomson syndrome: two case reports show heterogeneous cutaneous abnormalities, an association with genetically programmed ageing changes, and increased chromosomal radiosensitivity.

Kerr B, Ashcroft GS, Scott D, Horan MA, Ferguson MW, Donnai D. Kerr B, et al. J Med Genet. 1996 Nov;33(11):928-34. doi: 10.1136/jmg.33.11.928. J Med Genet. 1996. PMID: 8950673 Free PMC article.

3

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: kerr b. Clin Dysmorphol. 1997 Oct;6(4):291-302. doi: 10.1097/00019605-199710000-00001. Clin Dysmorphol. 1997. PMID: 9354837

4

Choanal atresia and hypothelia following methimazole exposure in utero: a second report.

Wilson LC, Kerr BA, Wilkinson R, Fossard C, Donnai D. Wilson LC, et al. Among authors: kerr ba. Am J Med Genet. 1998 Jan 13;75(2):220-2. doi: 10.1002/(sici)1096-8628(19980113)75:2<220::aid-ajmg21>3.0.co;2-q. Am J Med Genet. 1998. PMID: 9450891

5

Costello syndrome: two cases with embryonal rhabdomyosarcoma.

Kerr B, Eden OB, Dandamudi R, Shannon N, Quarrell O, Emmerson A, Ladusans E, Gerrard M, Donnai D. Kerr B, et al. J Med Genet. 1998 Dec;35(12):1036-9. doi: 10.1136/jmg.35.12.1036. J Med Genet. 1998. PMID: 9863604 Free PMC article.

6

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: kerr b. Invest Ophthalmol Vis Sci. 2000 Aug;41(9):2456-60. Invest Ophthalmol Vis Sci. 2000. PMID: 10937553

7

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: kerr b. 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.

8

Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma.

Jamieson RV, Perveen R, Kerr B, Carette M, Yardley J, Heon E, Wirth MG, van Heyningen V, Donnai D, Munier F, Black GC. Jamieson RV, et al. Among authors: kerr b. Hum Mol Genet. 2002 Jan 1;11(1):33-42. doi: 10.1093/hmg/11.1.33. Hum Mol Genet. 2002. PMID: 11772997

9

Chromosomal translocation in a family with ocular anomalies: indications for karyotype analysis.

Jamieson RV, Gaunt L, Donnai D, Black GC, Kerr B, Stecko O, Black GC. Jamieson RV, et al. Among authors: kerr b. Br J Ophthalmol. 2003 May;87(5):646-8. doi: 10.1136/bjo.87.5.646-a. Br J Ophthalmol. 2003. PMID: 12714415 Free PMC article. No abstract available.

10

Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.

McGregor L, Makela V, Darling SM, Vrontou S, Chalepakis G, Roberts C, Smart N, Rutland P, Prescott N, Hopkins J, Bentley E, Shaw A, Roberts E, Mueller R, Jadeja S, Philip N, Nelson J, Francannet C, Perez-Aytes A, Megarbane A, Kerr B, Wainwright B, Woolf AS, Winter RM, Scambler PJ. McGregor L, et al. Among authors: kerr b. Nat Genet. 2003 Jun;34(2):203-8. doi: 10.1038/ng1142. Nat Genet. 2003. PMID: 12766769

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