I. Cross

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maternal origin . defect in three sibs with a 22 q 11 deletion of coarctation and isolated ventricular septal DiGeorge syndrome with isolated aortic

J. Burn, J. Goodship, D. Wilson, 2004 .

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

P. Scambler, J. Burn, J. Goodship, 1991, British heart journal.

Alagille syndrome and deletion of 20p.

J. Burn, B. C. Davison, R. Mueller, 1990, Journal of medical genetics.

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

M. Porteous, J. Burn, I. Cross, 1992, American journal of medical genetics.

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

R. Shprintzen, P. Scambler, J. Goodship, 1993, American journal of medical genetics.

Minimum prevalence of chromosome 22q11 deletions.

J. Burn, D. Wilson, I. Cross, 1994 .

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

J. Burn, J. Goodship, S. Bhattacharya, 1992, Journal of medical genetics.

Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22ql 1

P Scambler, P. Scambler, J. Goodship, 2022 .

Deletions within chromosome 22q11 in familial congenital heart disease

P. Scambler, J. Goodship, J. Burn, 1992, The Lancet.

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

R. Shprintzen, P. Scambler, R. Williamson, 1992, The Lancet.

Monozygotic twins with chromosome 22q11 deletion and discordant phenotype.

P. Scambler, J. Goodship, J. Burn, 1995, Journal of medical genetics.

Noonan's and DiGeorge syndromes with monosomy 22q11.

P. Scambler, S. Strobel, D. Kelly, 1993, Archives of disease in childhood.

A prospective cytogenetic study of 36 cases of DiGeorge syndrome.

J. Burn, J. Goodship, A. Bankier, 1992, American journal of human genetics.

Frequency and predictive value of 22q11 deletion

J. Burn, E. Tawn, C. P. Daniel, 1999, Journal of medical genetics.

THE CLINICAL SIGNIFICANCE OF 22Q11 DELETION

P. Scambler, J. Goodship, J. Burn, 1995 .

IS MONOSOMY FOR THE DIGEORGE LOCUS ON CHROMOSOME-22 RESPONSIBLE FOR ISOLATED HEART MALFORMATIONS

J. Burn, J. Goodship, D. Wilson, 1991 .

Partial trisomy 20p resulting from a recombination of a familial pericentric inversion

J. Burn, N. Bown, E. Davison, 1986, Human Genetics.