Burn J - Search Results

1

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

2

Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11.

Burn J, Takao A, Wilson D, Cross I, Momma K, Wadey R, Scambler P, Goodship J. Burn J, et al. J Med Genet. 1993 Oct;30(10):822-4. doi: 10.1136/jmg.30.10.822. J Med Genet. 1993. PMID: 8230157 Free PMC article.

3

DiGeorge syndrome: part of CATCH 22.

Wilson DI, Burn J, Scambler P, Goodship J. Wilson DI, et al. Among authors: burn j. J Med Genet. 1993 Oct;30(10):852-6. doi: 10.1136/jmg.30.10.852. J Med Genet. 1993. PMID: 8230162 Free PMC article.

4

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

5

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

6

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.

7

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.

8

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

9

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.

10

Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndrome.

Halford S, Wilson DI, Daw SC, Roberts C, Wadey R, Kamath S, Wickremasinghe A, Burn J, Goodship J, Mattei MG, et al. Halford S, et al. Among authors: burn j. Hum Mol Genet. 1993 Oct;2(10):1577-82. doi: 10.1093/hmg/2.10.1577. Hum Mol Genet. 1993. PMID: 8268909

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