B S Emanuel

发表

Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion.

E. Zackai, B. Emanuel, D. McDonald-McGinn, 1996, American journal of medical genetics.

Enlarged Sylvian fissures in infants with interstitial deletion of chromosome 22q11.

R A Zimmerman, E. Zackai, R. Zimmerman, 1997, American journal of medical genetics.

A region of mouse chromosome 16 is syntenic to the DiGeorge, velocardiofacial syndrome minimal critical region.

B. Roe, J. Lund, C. Mickanin, 1997, Genome research.

Chromosomal mapping of the human catechol-O-methyltransferase gene to 22q11.1----q11.2.

B. Emanuel, M. Budarf, M. Grossman, 1992, Genomics.

Psychoeducational profile of the 22q11.2 microdeletion: A complex pattern.

E. Zackai, B. Emanuel, D. Driscoll, 1999, The Journal of pediatrics.

Comparative sequence analysis of 634 kb of the mouse chromosome 16 region of conserved synteny with the human velocardiofacial syndrome region on chromosome 22q11.2.

B. Roe, F. Chen, A. Hua, 2000, Genomics.

Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion.

E. Zackai, B. Clark, A. Jawad, 1999, American journal of medical genetics.

The Philadelphia story: the 22q11.2 deletion: report on 250 patients.

E. Zackai, K. Sullivan, B. Emanuel, 1999, Genetic counseling.

Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (DiGeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome).

E. Zackai, K. Sullivan, B. Emanuel, 1997, Arthritis and rheumatism.

A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.

B. Emanuel, M. Budarf, D. Driscoll, 1992, American journal of human genetics.

The 22q11.2 deletion syndrome.

E. Zackai, N. Philip, B. Emanuel, 2001, Advances in pediatrics.