Kerr B - 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: 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.

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

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

7

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

8

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

9

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

10

Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.

Lower KM, Turner G, Kerr BA, Mathews KD, Shaw MA, Gedeon AK, Schelley S, Hoyme HE, White SM, Delatycki MB, Lampe AK, Clayton-Smith J, Stewart H, van Ravenswaay CM, de Vries BB, Cox B, Grompe M, Ross S, Thomas P, Mulley JC, Gécz J. Lower KM, et al. Among authors: kerr ba. Nat Genet. 2002 Dec;32(4):661-5. doi: 10.1038/ng1040. Epub 2002 Nov 4. Nat Genet. 2002. PMID: 12415272

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