Burn J - Search Results

1

Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11.

Kelly D, Goldberg R, Wilson D, Lindsay E, Carey A, Goodship J, Burn J, Cross I, Shprintzen RJ, Scambler PJ. Kelly D, et al. Among authors: burn j. Am J Med Genet. 1993 Feb 1;45(3):308-12. doi: 10.1002/ajmg.1320450306. Am J Med Genet. 1993. PMID: 8434616

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

Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus.

Scambler PJ, Kelly D, Lindsay E, Williamson R, Goldberg R, Shprintzen R, Wilson DI, Goodship JA, Cross IE, Burn J. Scambler PJ, et al. Among authors: burn j. Lancet. 1992 May 9;339(8802):1138-9. doi: 10.1016/0140-6736(92)90734-k. Lancet. 1992. PMID: 1349369

4

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

5

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.

6

Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome.

Carey AH, Kelly D, Halford S, Wadey R, Wilson D, Goodship J, Burn J, Paul T, Sharkey A, Dumanski J, et al. Carey AH, et al. Among authors: burn j. Am J Hum Genet. 1992 Nov;51(5):964-70. Am J Hum Genet. 1992. PMID: 1415265 Free PMC article.

7

VACTERL with hydrocephalus: one end of the Fanconi anemia spectrum of anomalies?

Porteous ME, Cross I, Burn J. Porteous ME, et al. Among authors: burn j. Am J Med Genet. 1992 Aug 1;43(6):1032-4. doi: 10.1002/ajmg.1320430624. Am J Med Genet. 1992. PMID: 1415330

8

Genetic risks for children of women with myotonic dystrophy.

Goodship J, Gibson DE, Burn J, Honeyman J, Cubey RB, Schofield I. Goodship J, et al. Among authors: burn j. Am J Hum Genet. 1992 Jun;50(6):1340-2. Am J Hum Genet. 1992. PMID: 1530708 Free PMC article. No abstract available.

9

Interstitial deletions in DiGeorge syndrome detected with microclones from 22q11.

Carey AH, Claussen U, Lüdecke HJ, Horsthemke B, Ellis D, Oakey H, Wilson D, Burn J, Williamson R, Scambler PJ. Carey AH, et al. Among authors: burn j. Mamm Genome. 1992;3(2):101-5. doi: 10.1007/BF00431253. Mamm Genome. 1992. PMID: 1617213

10

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.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

914 results

Search Page

Filters