Newbury-Ecob R - Search Results

1

A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 gene.

Terrett JA, Newbury-Ecob R, Smith NM, Li QY, Garrett C, Cox P, Bonnet D, Lyonnet S, Munnich A, Buckler AJ, Brook JD. Terrett JA, et al. Am J Hum Genet. 1996 Dec;59(6):1337-41. Am J Hum Genet. 1996. PMID: 8940280 Free PMC article.

2

Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q.

Terrett JA, Newbury-Ecob R, Cross GS, Fenton I, Raeburn JA, Young ID, Brook JD. Terrett JA, et al. Nat Genet. 1994 Apr;6(4):401-4. doi: 10.1038/ng0494-401. Nat Genet. 1994. PMID: 8054982

3

Sex linked valvular dysplasia.

Newbury-Ecob RA, Zuccollo JM, Rutter N, Young ID. Newbury-Ecob RA, et al. J Med Genet. 1993 Oct;30(10):873-4. doi: 10.1136/jmg.30.10.873. J Med Genet. 1993. PMID: 8230166 Free PMC article.

4

Holt-Oram syndrome: a clinical genetic study.

Newbury-Ecob RA, Leanage R, Raeburn JA, Young ID. Newbury-Ecob RA, et al. J Med Genet. 1996 Apr;33(4):300-7. doi: 10.1136/jmg.33.4.300. J Med Genet. 1996. PMID: 8730285 Free PMC article.

5

Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family.

Li QY, Newbury-Ecob RA, Terrett JA, Wilson DI, Curtis AR, Yi CH, Gebuhr T, Bullen PJ, Robson SC, Strachan T, Bonnet D, Lyonnet S, Young ID, Raeburn JA, Buckler AJ, Law DJ, Brook JD. Li QY, et al. Nat Genet. 1997 Jan;15(1):21-9. doi: 10.1038/ng0197-21. Nat Genet. 1997. PMID: 8988164

6

p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

van Bokhoven H, Hamel BC, Bamshad M, Sangiorgi E, Gurrieri F, Duijf PH, Vanmolkot KR, van Beusekom E, van Beersum SE, Celli J, Merkx GF, Tenconi R, Fryns JP, Verloes A, Newbury-Ecob RA, Raas-Rotschild A, Majewski F, Beemer FA, Janecke A, Chitayat D, Crisponi G, Kayserili H, Yates JR, Neri G, Brunner HG. van Bokhoven H, et al. Am J Hum Genet. 2001 Sep;69(3):481-92. doi: 10.1086/323123. Epub 2001 Jul 17. Am J Hum Genet. 2001. PMID: 11462173 Free PMC article.

7

Holt-Oram syndrome: is there a "face"?

Allanson JE, Newbury-Ecob RA. Allanson JE, et al. Am J Med Genet A. 2003 May 1;118A(4):314-8. doi: 10.1002/ajmg.a.10214. Am J Med Genet A. 2003. PMID: 12687661

8

Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy.

Kohlhase J, Schubert L, Liebers M, Rauch A, Becker K, Mohammed SN, Newbury-Ecob R, Reardon W. Kohlhase J, et al. J Med Genet. 2003 Jul;40(7):473-8. doi: 10.1136/jmg.40.7.473. J Med Genet. 2003. PMID: 12843316 Free PMC article.

9

Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes.

Mirza G, Williams RR, Mohammed S, Clark R, Newbury-Ecob R, Baldinger S, Flinter F, Ragoussis J. Mirza G, et al. Eur J Hum Genet. 2004 Sep;12(9):718-28. doi: 10.1038/sj.ejhg.5201194. Eur J Hum Genet. 2004. PMID: 15150541

10

Mutation in myosin heavy chain 6 causes atrial septal defect.

Ching YH, Ghosh TK, Cross SJ, Packham EA, Honeyman L, Loughna S, Robinson TE, Dearlove AM, Ribas G, Bonser AJ, Thomas NR, Scotter AJ, Caves LS, Tyrrell GP, Newbury-Ecob RA, Munnich A, Bonnet D, Brook JD. Ching YH, et al. Nat Genet. 2005 Apr;37(4):423-8. doi: 10.1038/ng1526. Epub 2005 Feb 27. Nat Genet. 2005. PMID: 15735645

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