Nicole R Tartaglia
Affiliation: University of Colorado
- The spectrum of the behavioral phenotype in boys and adolescents 47,XXY (Klinefelter syndrome)Nicole Tartaglia
University of Colorado School of Medicine, Department of Pediatrics, and Child Development Unit, The Children s Hospital, Aurora, CO 80045, USA
Pediatr Endocrinol Rev 8:151-9. 2010..We discuss our results within the context of previous literature, including implications for genetic counseling, recommendations for care, and areas for future research...
- A new look at XXYY syndrome: medical and psychological featuresNicole Tartaglia
Department of Pediatrics, University of Colorado Denver, School of Medicine, Aurora, Colorado, USA
Am J Med Genet A 146:1509-22. 2008..2%), autism spectrum disorders (28.3%), mood disorders (46.8%), and tic disorders (18.9%), were elevated with 55.9% on psychopharmacologic medication overall. Recommendations for evaluation and treatment are summarized...
- Tremor in 48,XXYY syndromeNicole Tartaglia
Department of Pediatrics, School of Medicine, University of Colorado Denver, Child Development Unit, The Children s Hospital, 13123 East 16th Ave, B 140, Aurora, Colorado 80045, USA
Mov Disord 24:2001-7. 2009..Karyotyping should be considered in individuals presenting with tremor and a history of developmental delay, learning disabilities, tall stature, or microorchidism...
- A review of trisomy X (47,XXX)Nicole R Tartaglia
Department of Pediatrics, University of Colorado Denver School of Medicine, 13123 East 16th Ave, Aurora, CO 80045, USA
Orphanet J Rare Dis 5:8. 2010..Patients should be referred to support organizations to receive individual and family support. The prognosis is variable, depending on the severity of the manifestations and on the quality and timing of treatment...
- 48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndromeNicole Tartaglia
Section of Neurodevelopmental Behavioral Pediatrics, Department of Pediatrics, University of Colorado School of Medicine, Aurora, USA
Acta Paediatr 100:851-60. 2011..Future research should focus on genotype-phenotype relationships and the development of evidence-based treatments...
- Attention-deficit hyperactivity disorder symptoms in children and adolescents with sex chromosome aneuploidy: XXY, XXX, XYY, and XXYYNicole R Tartaglia
Neurodevelopmental and Behavioral Pediatrics, Department of Pediatrics, University of Colorado School of Medicine, Children s Hospital Colorado, 13123 East 16th Avenue, Aurora, CO, USA
J Dev Behav Pediatr 33:309-18. 2012....
- Expanded clinical phenotype of women with the FMR1 premutationSarah M Coffey
Department of Pediatrics, University of California at Davis Medical Center, Sacramento, California 95817, USA
Am J Med Genet A 146:1009-16. 2008..The remarkable degree of thyroid dysfunction (17% in the non-FXTAS group and 50% in the FXTAS group) warrants consideration of thyroid function studies in all female premutation carriers, particularly those with core features of FXTAS...