Jodi D Hoffman
Affiliation: Tufts-New England Medical Center
- A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromesJodi 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...
- The natural history of trisomy 12pReeval 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...
- Cognitive and behavioral characterization of 16p11.2 deletion syndromeEllen 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)...
- Immune abnormalities are a frequent manifestation of Kabuki syndromeJodi 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...
- Down syndrome serum screening also identifies an increased risk for multicystic dysplastic kidney, two-vessel cord, and hydroceleJodi 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...
- Somatic mosaicism for an HRAS mutation causes Costello syndromeKaren 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...