Bruce D. Gelb

发表

Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus

B. Gelb, J. Goodship, J. Burn, 2000, Nature Genetics.

The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43.

B. Gelb, G. Diaz, K. T. Khan, 1998, Genomics.

Slc19a2: cloning and characterization of the murine thiamin transporter cDNA and genomic sequence, the orthologue of the human TRMA gene.

B. Gelb, G. Diaz, K. Oishi, 2001, Molecular genetics and metabolism.

Impact of the Reduced Folate Carrier on the Accumulation of Active Thiamin Metabolites in Murine Leukemia Cells*

B. Gelb, I. Goldman, G. Diaz, 2001, The Journal of Biological Chemistry.

Mutation of TBCE causes hypoparathyroidism–retardation–dysmorphism and autosomal recessive Kenny–Caffey syndrome

S. Gregory, G. Mortier, B. Gelb, 2002, Nature Genetics.

Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations.

N. Risch, B. Gelb, R. Desnick, 2000, American journal of human genetics.

Char syndrome, an inherited disorder with patent ductus arteriosus, maps to chromosome 6p12-p21.

B. Gelb, G. Diaz, M. Pierpont, 1999, Circulation.

Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation.

B. Gelb, M. Pierpont, E. Sweeney, 2001, American journal of human genetics.

Diaphyseal medullary stenosis with malignant fibrous histiocytoma: a hereditary bone dysplasia/cancer syndrome maps to 9p21-22.

J. Martignetti, R. Desnick, K. Norton, 1999, American journal of human genetics.

Familial patent ductus arteriosus and bicuspid aortic valve with hand anomalies: a novel heart-hand syndrome.

J. Willner, J. Zhang, B. Gelb, 1999, American journal of medical genetics.