Rena E Falk

Summary

Affiliation: Cedars-Sinai Medical Center
Country: USA

Publications

  1. ncbi request reprint Chromosome 2q37 deletion: clinical and molecular aspects
    Rena E Falk
    Cedars Sinai Medical Center, Division of Medical Genetics, 8700 Beverly Blvd, SSB 387, Los Angeles, CA 90048, USA
    Am J Med Genet C Semin Med Genet 145:357-71. 2007
  2. ncbi request reprint Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals
    Kari A Casas
    Medical Genetics Birth Defects Center, Steven Spielberg Pediatric Research Center, Ahmanson Department of Pediatrics, Cedars Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA
    Am J Med Genet A 130:331-9. 2004
  3. ncbi request reprint Ebstein anomaly and duplication of the distal arm of chromosome 15: report of two patients
    Michelle S Miller
    Division of Pediatric Cardiology, Cedars Sinai Medical Center, Los Angeles, California 90048, USA
    Am J Med Genet A 139:141-5. 2005
  4. ncbi request reprint Microcephaly with chorioretinopathy in a brother-sister pair: evidence for germ line mosaicism and further delineation of the ocular phenotype
    Karmen M Trzupek
    Casey Eye Institute and Department of Ophthalmology, Oregon Health and Science University, Portland, Oregon 97239, USA
    Am J Med Genet A 143:1218-22. 2007

Collaborators

Detail Information

Publications4

  1. ncbi request reprint Chromosome 2q37 deletion: clinical and molecular aspects
    Rena E Falk
    Cedars Sinai Medical Center, Division of Medical Genetics, 8700 Beverly Blvd, SSB 387, Los Angeles, CA 90048, USA
    Am J Med Genet C Semin Med Genet 145:357-71. 2007
    ..Timely diagnosis of this recognizable syndrome provides a basis for genetic counseling, appropriate surveillance, and intervention, and avoids unnecessary and expensive diagnostic testing...
  2. ncbi request reprint Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals
    Kari A Casas
    Medical Genetics Birth Defects Center, Steven Spielberg Pediatric Research Center, Ahmanson Department of Pediatrics, Cedars Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA
    Am J Med Genet A 130:331-9. 2004
    ..Assignment of clinical features to specific breakpoints and refinement of predictive value may be useful in counseling...
  3. ncbi request reprint Ebstein anomaly and duplication of the distal arm of chromosome 15: report of two patients
    Michelle S Miller
    Division of Pediatric Cardiology, Cedars Sinai Medical Center, Los Angeles, California 90048, USA
    Am J Med Genet A 139:141-5. 2005
    ..Duplication of 15q likely affects the early morphogenesis of cardiac structures, including the normal formation of the tricuspid valve...
  4. ncbi request reprint Microcephaly with chorioretinopathy in a brother-sister pair: evidence for germ line mosaicism and further delineation of the ocular phenotype
    Karmen M Trzupek
    Casey Eye Institute and Department of Ophthalmology, Oregon Health and Science University, Portland, Oregon 97239, USA
    Am J Med Genet A 143:1218-22. 2007
    ..The present sibs are the first in whom these features are observed while the parents are normal. Our findings support an expansion of the ocular phenotype and suggest the existence of germ line mosaicism...