Patents by Inventor Beverly S. Emanuel

Beverly S. Emanuel has filed for patents to protect the following inventions. This listing includes patent applications that are pending as well as patents that have already been granted by the United States Patent and Trademark Office (USPTO).

  • Methods of detecting genetic deletions and mutations associated with Digeorge syndrome, Velocardiofacial syndrome, CHARGE association, conotruncal cardiac defect, and cleft palate and probes useful therefore
    Patent number: 6303294
    Abstract: There is provided by this invention methods of detecting genetic deletions, translocations, and mutations associated with at least one condition selected from the group consisting of DiGeorge syndrome, Velocardiofacial syndrome, CHARGE association, conotruncal cardiac defect, and cleft palate in a human patient comprising the steps of providing a DNA containing test sample from said human patient; identifying whether there are less than two functional copies of the DiGeorge syndrome critical region loci, whereby said identification of less than two copies of the DiGeorge syndrome critical region loci is indicative of a likelihood that said person has at least one of DiGeorge syndrome, Velocardiofacial syndrome, CHARGE association, conotruncal cardiac defect, and cleft palate. Probes and primers useful in the invention are also provided as are diagnostic kits.
    Type: Grant
    Filed: June 7, 1995
    Date of Patent: October 16, 2001
    Assignees: The Children's Hospital of Philadelphia, The Trustees of the University of Pennsylvania
    Inventors: Beverly S. Emanuel, Marcia L. Budarf, Deborah Driscoll
  • Genes mapping in the digeorge and velocardiofacial syndrome minimal critical region
    Patent number: 5935783
    Abstract: Transcription units encoded in the minimal DGS/VCFS critical region, primer pairs effective for amplifying said transcripts in a genomic DNA sample for the preparation of probes for detecting genetic deletions/mutations in the minimal DGS/VCFS critical region, and kits containing the probes are disclosed. One or more of said transcription units is implicated for the abnormalities associated with DGS/VCFS.
    Type: Grant
    Filed: December 27, 1996
    Date of Patent: August 10, 1999
    Assignees: Children's Hospital of Philadelphia, University of Oklahoma
    Inventors: Weilong Gong, Beverly S. Emanuel, Marcia L. Budarf, Bruce Roe
  • Compositions and diagnostic kits for identifying alveolar rhabdomyosarcoma
    Patent number: 5650278
    Abstract: Methods of determining whether a tumor is an alveolar rhabdomyosarcoma tumor by detecting the presence of a DNA sequence of a chimeric gene that is generated by translocation of a portion of human chromosome 2 and a portion of human chromosome 13 are disclosed. In addition, diagnostic kits to practice methods of determining whether a tumor is an alveolar rhabdomyosarcoma tumor are disclosed. Isolated nucleic acid molecules which comprise nucleotide sequences that are complementary to at least a portion of human chromosome 2 or a portion of human chromosome 13 are disclosed.
    Type: Grant
    Filed: October 25, 1994
    Date of Patent: July 22, 1997
    Assignees: Children's Hospital of Philadelphia, Trustees of The University of Pennsylvania, The Wistar Institute of Anatomy and Biology
    Inventors: Frederic G. Barr, Beverly S. Emanuel, Naomi Galili
  • Method of detecting genetic deletions and mutations associated with DiGeorge syndrome, Velocardiofacial syndrome, charge association, conotruncal cardiac defect, and cleft palate and probes useful therefor
    Patent number: 5576178
    Abstract: There is provided by this invention methods of detecting genetic deletions and mutations associated with at least one condition selected from the group consisting of DiGeorge syndrome, Velocardiofacial syndrome, CHARGE association, conotruncal cardiac defect, and cleft palate in a human patient comprising the steps of providing a DNA containing test sample from said human patient; identifying whether there are less than two functional copies of the DiGeorge syndrome critical region loci, whereby said identification of less than two copies of the DiGeorge syndrome critical region loci is indicative of a likelihood that said person has at least one of DiGeorge syndrome, Velocardiofacial syndrome, CHARGE association, conotruncal cardiac defect, and cleft palate. Probes and primers useful in the invention are also provided as are diagnostic kits.
    Type: Grant
    Filed: November 22, 1993
    Date of Patent: November 19, 1996
    Assignees: The Childrens Hospital of Philadelphia, The Trustees of the University of Pennsylvania
    Inventors: Beverly S. Emanuel, Marcia L. Budarf, Deborah Driscoll