Jodi D Hoffman

Summary

Affiliation: Tufts-New England Medical Center
Country: USA

Publications

  1. ncbi request reprint A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromes
    Jodi D Hoffman
    Division of Genetics, Department of Pediatrics, Tufts New England Medical Center, Boston, Massachusetts 02111, USA
    Am J Med Genet A 143:1282-6. 2007
  2. ncbi request reprint The natural history of trisomy 12p
    Reeval Segel
    Department of Pediatrics, Division of Genetics, Tufts New England Medical Center, Boston, Massachusetts 02111, USA
    Am J Med Genet A 140:695-703. 2006
  3. doi request reprint Cognitive and behavioral characterization of 16p11.2 deletion syndrome
    Ellen Hanson
    Division of Developmental Medicine, Children s Hospital Boston, Boston, MA 02115, USA
    J Dev Behav Pediatr 31:649-57. 2010
  4. ncbi request reprint Immune abnormalities are a frequent manifestation of Kabuki syndrome
    Jodi D Hoffman
    Department of Pediatrics, Division of Human Genetics, The Children s Hospital of Philadelphia and the University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet A 135:278-81. 2005
  5. pmc Down syndrome serum screening also identifies an increased risk for multicystic dysplastic kidney, two-vessel cord, and hydrocele
    Jodi D Hoffman
    Tufts Medical Center, Boston, MA 02111, USA
    Prenat Diagn 28:1204-8. 2008
  6. ncbi request reprint Somatic mosaicism for an HRAS mutation causes Costello syndrome
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware 19899, USA
    Am J Med Genet A 140:2163-9. 2006

Detail Information

Publications6

  1. ncbi request reprint A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromes
    Jodi D Hoffman
    Division of Genetics, Department of Pediatrics, Tufts New England Medical Center, Boston, Massachusetts 02111, USA
    Am J Med Genet A 143:1282-6. 2007
    ..We propose that these children may have a previously unreported syndrome consistent with X-linked inheritance, although an autosomal dominant mode of transmission cannot be excluded...
  2. ncbi request reprint The natural history of trisomy 12p
    Reeval Segel
    Department of Pediatrics, Division of Genetics, Tufts New England Medical Center, Boston, Massachusetts 02111, USA
    Am J Med Genet A 140:695-703. 2006
    ..We also provide recommendations for the long-term follow-up of patients with trisomy 12p...
  3. doi request reprint Cognitive and behavioral characterization of 16p11.2 deletion syndrome
    Ellen Hanson
    Division of Developmental Medicine, Children s Hospital Boston, Boston, MA 02115, USA
    J Dev Behav Pediatr 31:649-57. 2010
    ..To describe cognitive and behavioral features of patients with chromosome 16p11.2 deletion syndrome, a recently identified and common genetic cause of neurodevelopmental disability, especially autism spectrum disorder (ASD)...
  4. ncbi request reprint Immune abnormalities are a frequent manifestation of Kabuki syndrome
    Jodi D Hoffman
    Department of Pediatrics, Division of Human Genetics, The Children s Hospital of Philadelphia and the University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet A 135:278-81. 2005
    ..Due to this increased susceptibility to infection, children with KS should have immunologic evaluations at the time of diagnosis in order to reduce preventable morbidity and mortality...
  5. pmc Down syndrome serum screening also identifies an increased risk for multicystic dysplastic kidney, two-vessel cord, and hydrocele
    Jodi D Hoffman
    Tufts Medical Center, Boston, MA 02111, USA
    Prenat Diagn 28:1204-8. 2008
    ..The FASTER trial compared first and second trimester screening methods for aneuploidy. We examined relationships between maternal serum markers and common congenital anomalies in the pediatric outcome data set of 36 837 subjects...
  6. ncbi request reprint Somatic mosaicism for an HRAS mutation causes Costello syndrome
    Karen W Gripp
    Division of Medical Genetics, A I duPont Hospital for Children, Wilmington, Delaware 19899, USA
    Am J Med Genet A 140:2163-9. 2006
    ..This is the first reported CS patient mosaic for the common HRAS mutation, likely due to a somatic mutation occurring very early in fetal development...