Newbury-Ecob R - Search Results

1

Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.

Hastings R, Cobben JM, Gillessen-Kaesbach G, Goodship J, Hove H, Kjaergaard S, Kemp H, Kingston H, Lunt P, Mansour S, McGowan R, Metcalfe K, Murdoch-Davis C, Ray M, Rio M, Smithson S, Tolmie J, Turnpenny P, van Bon B, Wieczorek D, Newbury-Ecob R. Hastings R, et al. Eur J Hum Genet. 2011 May;19(5):513-9. doi: 10.1038/ejhg.2010.234. Epub 2011 Feb 2. Eur J Hum Genet. 2011. PMID: 21368916 Free PMC article. Review.

2

Genetic analysis of the G4.5 gene in families with suspected Barth syndrome.

Cantlay AM, Shokrollahi K, Allen JT, Lunt PW, Newbury-Ecob RA, Steward CG. Cantlay AM, et al. J Pediatr. 1999 Sep;135(3):311-5. doi: 10.1016/s0022-3476(99)70126-5. J Pediatr. 1999. PMID: 10484795

3

Thrombocytopenia-absent radius syndrome: a clinical genetic study.

Greenhalgh KL, Howell RT, Bottani A, Ancliff PJ, Brunner HG, Verschuuren-Bemelmans CC, Vernon E, Brown KW, Newbury-Ecob RA. Greenhalgh KL, et al. J Med Genet. 2002 Dec;39(12):876-81. doi: 10.1136/jmg.39.12.876. J Med Genet. 2002. PMID: 12471199 Free PMC article.

4

Siblings with Bohring-Opitz syndrome.

Greenhalgh KL, Newbury-Ecob RA, Lunt PW, Dolling CL, Hargreaves H, Smithson SF. Greenhalgh KL, et al. Clin Dysmorphol. 2003 Jan;12(1):15-9. doi: 10.1097/00019605-200301000-00003. Clin Dysmorphol. 2003. PMID: 12514360

5

Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arrays.

Sellick GS, Longman C, Tolmie J, Newbury-Ecob R, Geenhalgh L, Hughes S, Whiteford M, Garrett C, Houlston RS. Sellick GS, et al. Nucleic Acids Res. 2004 Nov 23;32(20):e164. doi: 10.1093/nar/gnh163. Nucleic Acids Res. 2004. PMID: 15561999 Free PMC article.

6

CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.

Archer HL, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, Huyton M, O'Regan M, Tolmie J, Sampson J, Clarke A, Osborne J. Archer HL, et al. J Med Genet. 2006 Sep;43(9):729-34. doi: 10.1136/jmg.2006.041467. Epub 2006 Apr 12. J Med Genet. 2006. PMID: 16611748 Free PMC article.

7

A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 gene.

Sellick GS, Hoornaert KP, Mortier GR, King C, Dolling CL, Newbury-Ecob RA, Gargan M, Hall CM, Houlston RS, Smithson SF. Sellick GS, et al. Clin Dysmorphol. 2006 Oct;15(4):197-202. doi: 10.1097/01.mcd.0000220616.55402.03. Clin Dysmorphol. 2006. PMID: 16957471

8

Dysmorphology of Barth syndrome.

Hastings R, Steward C, Tsai-Goodman B, Newbury-Ecob R. Hastings R, et al. Clin Dysmorphol. 2009 Oct;18(4):185-7. doi: 10.1097/MCD.0b013e32832a9e62. Clin Dysmorphol. 2009. PMID: 19648820

9

A further patient with Noonan syndrome due to a SOS1 mutation and rhabdomyosarcoma.

Hastings R, Newbury-Ecob R, Ng A, Taylor R. Hastings R, et al. Genes Chromosomes Cancer. 2010 Oct;49(10):967-8. doi: 10.1002/gcc.20800. Genes Chromosomes Cancer. 2010. PMID: 20607846 No abstract available.

10

A case of probable Bohring-Opitz syndrome with medulloblastoma.

Hastings RWT, Newbury-Ecob R, Lunt PW. Hastings RWT, et al. Clin Dysmorphol. 2010 Oct;19(4):202-205. doi: 10.1097/MCD.0b013e32833e07de. Clin Dysmorphol. 2010. PMID: 20717007 No abstract available.

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