M C Phelan

Summary

Affiliation: University of Tennessee College of Medicine
Country: USA

Publications

  1. ncbi 22q13 deletion syndrome
    M C Phelan
    Greenwood Genetic Center, Greenwood, South Carolina
    Am J Med Genet 101:91-9. 2001
  2. ncbi FISH analysis of a complex chromosome rearrangement involving nine breakpoints on chromosomes 6, 12, 14 and 16
    M C Phelan
    Greenwood Genetic Center, Greenwood, SC 29646, USA
    Prenat Diagn 18:1174-80. 1998
  3. ncbi Albright hereditary osteodystrophy and del(2) (q37.3) in four unrelated individuals
    M C Phelan
    Greenwood Genetic Center, South Carolina, USA
    Am J Med Genet 58:1-7. 1995

Collaborators

Detail Information

Publications3

  1. ncbi 22q13 deletion syndrome
    M C Phelan
    Greenwood Genetic Center, Greenwood, South Carolina
    Am J Med Genet 101:91-9. 2001
    ..We recommend high-resolution chromosome analysis and fluorescence in situ hybridization studies, or molecular analysis to exclude this diagnosis...
  2. ncbi FISH analysis of a complex chromosome rearrangement involving nine breakpoints on chromosomes 6, 12, 14 and 16
    M C Phelan
    Greenwood Genetic Center, Greenwood, SC 29646, USA
    Prenat Diagn 18:1174-80. 1998
    ..Autopsy revealed gall-bladder hypoplasia and an atrial septal defect. Chromosome analysis of fetal tissue confirmed the presence of the complex rearrangement...
  3. ncbi Albright hereditary osteodystrophy and del(2) (q37.3) in four unrelated individuals
    M C Phelan
    Greenwood Genetic Center, South Carolina, USA
    Am J Med Genet 58:1-7. 1995
    ..The association of Albright syndrome and the GNAS1 locus on chromosome 20 is well documented. The observation of a second potential disease locus on chromosome 2 may help explain the heterogeneity observed in this disorder...