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

2

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

3

Unilateral tibial aplasia, pre-axial polysyndactyly, vertebral anomalies and imperforate anus.

Slavotinek A, Clayton-Smith J, Kerr B. Slavotinek A, et al. Among authors: kerr b. Clin Dysmorphol. 1999 Jul;8(3):223-5. Clin Dysmorphol. 1999. PMID: 10457860

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: kerr b. Clin Dysmorphol. 2000 Oct;9(4):241-6. doi: 10.1097/00019605-200009040-00002. Clin Dysmorphol. 2000. PMID: 11045578

5

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.

6

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

7

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.

8

Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B.

Wilson M, Mowat D, Dastot-Le Moal F, Cacheux V, Kääriäinen H, Cass D, Donnai D, Clayton-Smith J, Townshend S, Curry C, Gattas M, Braddock S, Kerr B, Aftimos S, Zehnwirth H, Barrey C, Goossens M. Wilson M, et al. Among authors: kerr b. Am J Med Genet A. 2003 Jun 15;119A(3):257-65. doi: 10.1002/ajmg.a.20053. Am J Med Genet A. 2003. PMID: 12784289

9

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.

10

Congenital ulcerating hemangioma in a baby with KRAS mutation and cardio-facio-cutaneous syndrome.

Tang B, Reardon W, Black GC, Kerr BA. Tang B, et al. Among authors: kerr ba. Clin Dysmorphol. 2007 Jul;16(3):203-206. doi: 10.1097/MCD.0b013e328011f974. Clin Dysmorphol. 2007. PMID: 17551339

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