Newbury-Ecob R - Search Results

1

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

2

Manifesting heterozygosity in Norrie's disease?

Woodruff G, Newbury-Ecob R, Plaha DS, Young ID. Woodruff G, et al. Br J Ophthalmol. 1993 Dec;77(12):813-4. doi: 10.1136/bjo.77.12.813. Br J Ophthalmol. 1993. PMID: 8110678 Free PMC article. No abstract available.

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

New syndrome with features overlapping the Baller-Gerold and Roberts syndromes.

Newbury-Ecob RA, McKeever PA, Gosden C, Young ID. Newbury-Ecob RA, et al. Clin Dysmorphol. 1993 Apr;2(2):173-7. Clin Dysmorphol. 1993. PMID: 8281283

5

Dominant inheritance of microcephaly, short stature and congenital dislocation of the hips.

Newbury-Ecob RA, Young ID. Newbury-Ecob RA, et al. Clin Dysmorphol. 1993 Jan;2(1):34-8. Clin Dysmorphol. 1993. PMID: 8298736

6

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.

7

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.

8

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

9

Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.

Toutain A, Dessay B, Ronce N, Ferrante MI, Tranchemontagne J, Newbury-Ecob R, Wallgren-Pettersson C, Burn J, Kaplan J, Rossi A, Russo S, Walpole I, Hartsfield JK, Oyen N, Nemeth A, Bitoun P, Trump D, Moraine C, Franco B. Toutain A, et al. Eur J Hum Genet. 2002 Sep;10(9):516-20. doi: 10.1038/sj.ejhg.5200846. Eur J Hum Genet. 2002. PMID: 12173028

10

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.

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