Burn J - Search Results

1

Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation.

Griffin HR, Hall DH, Topf A, Eden J, Stuart AG, Parsons J, Peart I, Deanfield JE, O'Sullivan J, Babu-Narayan SV, Gatzoulis MA, Bu'lock FA, Bhattacharya S, Bentham J, Farrall M, Granados Riveron J, Brook JD, Burn J, Cordell HJ, Goodship JA, Keavney B. Griffin HR, et al. Among authors: burn j. PLoS One. 2009;4(3):e4978. doi: 10.1371/journal.pone.0004978. Epub 2009 Mar 24. PLoS One. 2009. PMID: 19308252 Free PMC article.

2

New dysmorphic syndrome with choanal atresia in siblings.

Burn J, McKeown C, Wagget J, Bray R, Goodship J. Burn J, et al. Clin Dysmorphol. 1992 Jul;1(3):137-44. Clin Dysmorphol. 1992. PMID: 1342861

3

Deletions within chromosome 22q11 in familial congenital heart disease.

Wilson DI, Goodship JA, Burn J, Cross IE, Scambler PJ. Wilson DI, et al. Among authors: burn j. Lancet. 1992 Sep 5;340(8819):573-5. doi: 10.1016/0140-6736(92)92107-q. Lancet. 1992. PMID: 1355155

4

A prospective cytogenetic study of 36 cases of DiGeorge syndrome.

Wilson DI, Cross IE, Goodship JA, Brown J, Scambler PJ, Bain HH, Taylor JF, Walsh K, Bankier A, Burn J, et al. Wilson DI, et al. Among authors: burn j. Am J Hum Genet. 1992 Nov;51(5):957-63. Am J Hum Genet. 1992. PMID: 1415264 Free PMC article.

5

A submicroscopic translocation, t(4;10), responsible for recurrent Wolf-Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation.

Goodship J, Curtis A, Cross I, Brown J, Emslie J, Wolstenholme J, Bhattacharya S, Burn J. Goodship J, et al. Among authors: burn j. J Med Genet. 1992 Jul;29(7):451-4. J Med Genet. 1992. PMID: 1640422 Free PMC article.

6

Adult-onset motor neuron disease and infantile Werdnig-Hoffmann disease (spinal muscular atrophy type 1) in the same family.

Shaw PJ, Ince PG, Goodship J, Burn J, Slade J, Bates D, Medwin DG. Shaw PJ, et al. Among authors: burn j. Neurology. 1992 Aug;42(8):1477-80. doi: 10.1212/wnl.42.8.1477. Neurology. 1992. PMID: 1641139

7

DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin.

Wilson DI, Cross IE, Goodship JA, Coulthard S, Carey AH, Scambler PJ, Bain HH, Hunter AS, Carter PE, Burn J. Wilson DI, et al. Among authors: burn j. Br Heart J. 1991 Oct;66(4):308-12. doi: 10.1136/hrt.66.4.308. Br Heart J. 1991. PMID: 1747284 Free PMC article.

8

Transmission of Proteus syndrome from father to son?

Goodship J, Redfearn A, Milligan D, Gardner-Medwin D, Burn J. Goodship J, et al. Among authors: burn j. J Med Genet. 1991 Nov;28(11):781-5. doi: 10.1136/jmg.28.11.781. J Med Genet. 1991. PMID: 1770536 Free PMC article.

9

A male with type I orofaciodigital syndrome.

Goodship J, Platt J, Smith R, Burn J. Goodship J, et al. Among authors: burn j. J Med Genet. 1991 Oct;28(10):691-4. doi: 10.1136/jmg.28.10.691. J Med Genet. 1991. PMID: 1941964 Free PMC article.

10

Association of less common cystic fibrosis mutations with a mild phenotype.

Curtis A, Nelson R, Porteous M, Burn J, Bhattacharya SS. Curtis A, et al. Among authors: burn j. J Med Genet. 1991 Jan;28(1):34-7. doi: 10.1136/jmg.28.1.34. J Med Genet. 1991. PMID: 1999830 Free PMC article.

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