J L Ross

Summary

Affiliation: Thomas Jefferson University
Country: USA

Publications

  1. pmc An extra X or Y chromosome: contrasting the cognitive and motor phenotypes in childhood in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome
    Judith L Ross
    Department of Pediatrics, Thomas Jefferson University, 1025 Walnut Street, Suite 726, Philadelphia, PA 19107, USA
    Dev Disabil Res Rev 15:309-17. 2009
  2. doi request reprint Effects of treatment with oxandrolone for 4 years on the frequency of severe arithmetic learning disability in girls with Turner syndrome
    Judith L Ross
    Thomas Jefferson University, Department of Pediatrics, Philadelphia, PA 19107, USA
    J Pediatr 155:714-20. 2009
  3. doi request reprint Cognitive and motor development during childhood in boys with Klinefelter syndrome
    Judith L Ross
    Department of Pediatrics, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    Am J Med Genet A 146:708-19. 2008
  4. ncbi request reprint Effects of growth hormone on cognitive function
    Judith L Ross
    Thomas Jefferson University, Philadelphia, PA 19107, USA
    Horm Res 64:89-94. 2005
  5. ncbi request reprint Cognition and the sex chromosomes: studies in Turner syndrome
    Judith Ross
    Department of Pediatrics, Thomas Jefferson University, A I duPont Hospital for Children, Philadelphia, PA 19107, USA
    Horm Res 65:47-56. 2006
  6. ncbi request reprint Early androgen deficiency in infants and young boys with 47,XXY Klinefelter syndrome
    Judith L Ross
    Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Horm Res 64:39-45. 2005
  7. ncbi request reprint Psychological adaptation in children with idiopathic short stature treated with growth hormone or placebo
    Judith L Ross
    Department of Pediatrics, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Clin Endocrinol Metab 89:4873-8. 2004
  8. ncbi request reprint The effect of genetic differences and ovarian failure: intact cognitive function in adult women with premature ovarian failure versus turner syndrome
    Judith L Ross
    Department of Pediatrics, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Clin Endocrinol Metab 89:1817-22. 2004
  9. ncbi request reprint Androgen-responsive aspects of cognition in girls with Turner syndrome
    J L Ross
    Department of Pediatrics, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Clin Endocrinol Metab 88:292-6. 2003
  10. ncbi request reprint Phenotypes Associated with SHOX Deficiency
    J L Ross
    Department of Pediatrics, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Clin Endocrinol Metab 86:5674-80. 2001

Collaborators

Detail Information

Publications36

  1. pmc An extra X or Y chromosome: contrasting the cognitive and motor phenotypes in childhood in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome
    Judith L Ross
    Department of Pediatrics, Thomas Jefferson University, 1025 Walnut Street, Suite 726, Philadelphia, PA 19107, USA
    Dev Disabil Res Rev 15:309-17. 2009
    ....
  2. doi request reprint Effects of treatment with oxandrolone for 4 years on the frequency of severe arithmetic learning disability in girls with Turner syndrome
    Judith L Ross
    Thomas Jefferson University, Department of Pediatrics, Philadelphia, PA 19107, USA
    J Pediatr 155:714-20. 2009
    ..To study androgen treatment effects on arithmetic performance in girls with Turner syndrome...
  3. doi request reprint Cognitive and motor development during childhood in boys with Klinefelter syndrome
    Judith L Ross
    Department of Pediatrics, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    Am J Med Genet A 146:708-19. 2008
    ..These findings would also be an important component of counseling clinicians and families about this disorder...
  4. ncbi request reprint Effects of growth hormone on cognitive function
    Judith L Ross
    Thomas Jefferson University, Philadelphia, PA 19107, USA
    Horm Res 64:89-94. 2005
    ..This study did not support a role for GH in influencing the characteristic nonverbal neurocognitive deficits associated with TS. However, evaluation of QoL should be a part of the routine clinical management of patients with GHD or TS...
  5. ncbi request reprint Cognition and the sex chromosomes: studies in Turner syndrome
    Judith Ross
    Department of Pediatrics, Thomas Jefferson University, A I duPont Hospital for Children, Philadelphia, PA 19107, USA
    Horm Res 65:47-56. 2006
    ..Future studies will elucidate the cognitive deficits and the underlying etiology. These results should allow us to begin to design cognitive interventions that might lessen those deficits in the TS population...
  6. ncbi request reprint Early androgen deficiency in infants and young boys with 47,XXY Klinefelter syndrome
    Judith L Ross
    Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Horm Res 64:39-45. 2005
    ..Klinefelter syndrome (KS) is characterized by the karyotype 47,XXY. In this study, we evaluated the physical and testicular failure phenotypes of infants and young boys with KS...
  7. ncbi request reprint Psychological adaptation in children with idiopathic short stature treated with growth hormone or placebo
    Judith L Ross
    Department of Pediatrics, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Clin Endocrinol Metab 89:4873-8. 2004
    ..It remains to be determined whether GH treatment significantly impacts adaptation, psychosocial function, or quality of life in children with ISS...
  8. ncbi request reprint The effect of genetic differences and ovarian failure: intact cognitive function in adult women with premature ovarian failure versus turner syndrome
    Judith L Ross
    Department of Pediatrics, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Clin Endocrinol Metab 89:1817-22. 2004
    ..The genetic deficiencies of women with TS most likely account for their specific cognitive phenotype...
  9. ncbi request reprint Androgen-responsive aspects of cognition in girls with Turner syndrome
    J L Ross
    Department of Pediatrics, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Clin Endocrinol Metab 88:292-6. 2003
    ..In conclusion, oxandrolone treatment for 2 yr improves working memory in adolescent girls with TS. What this degree of improvement will mean in real life terms for TS girls remains to be determined...
  10. ncbi request reprint Phenotypes Associated with SHOX Deficiency
    J L Ross
    Department of Pediatrics, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Clin Endocrinol Metab 86:5674-80. 2001
    ..In conclusion, SHOX deletions or mutations accounted for all of our LWD cases. SHOX haploinsufficiency accounts for most, but not all, of the TS height deficit. The LWD phenotype shows some gender- and age-related differences...
  11. ncbi request reprint Neurodevelopmental and psychosocial aspects of Turner syndrome
    J Ross
    Department of Pediatrics, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    Ment Retard Dev Disabil Res Rev 6:135-41. 2000
    ..turner-syndrome-us.org/) has provided new information for TS adults and families as well as a supportive peer group. MRDD Research Reviews 2000;6:135-141...
  12. pmc The Turner syndrome-associated neurocognitive phenotype maps to distal Xp
    J L Ross
    Thomas Jefferson University, Department of Pediatrics, Philadelphia, PA, 19107, USA
    Am J Hum Genet 67:672-81. 2000
    ..We conclude that haploinsufficiency of PAR1 gene(s) is the basis for susceptibility to the TS neurocognitive phenotype...
  13. ncbi request reprint Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia
    Judith L Ross
    Department of Pediatrics, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    Am J Med Genet A 116:61-5. 2003
    ..The phenotypes of combined LWD and achondroplasia or hypochondroplasia appeared to be less than additive, suggesting that SHOX and FGFR3 act on overlapping pathways of bone growth and development...
  14. ncbi request reprint Persistent cognitive deficits in adult women with Turner syndrome
    J L Ross
    Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Neurology 58:218-25. 2002
    ..Observed deficits could be caused by genetic or endocrine factors...
  15. ncbi request reprint Use of estrogen in young girls with Turner syndrome: effects on memory
    J L Ross
    Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Neurology 54:164-70. 2000
    ..We compared verbal and nonverbal memory in estrogen- and placebo-treated girls with TS (ages 7 to 9 years) and age-matched female controls...
  16. pmc Heart-targeted overexpression of caspase3 in mice increases infarct size and depresses cardiac function
    G Condorelli
    Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, PA 19107 5541, USA
    Proc Natl Acad Sci U S A 98:9977-82. 2001
    ..We also implicate Caspase3 in determining myocardial infarct size after ischemia-reperfusion injury, because its cardiomyocyte-specific overexpression increases infarct size...
  17. ncbi request reprint Compound heterozygosity of SHOX-encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD)
    Angel Campos-Barros
    Department of Endocrinology, Hospital Infantil Universitario Nino Jesus, Universidad Autonoma de Madrid, Madrid, Spain
    Am J Med Genet A 143:933-8. 2007
    ....
  18. ncbi request reprint Shyness, social anxiety, and impaired self-esteem in Turner syndrome and premature ovarian failure
    Peter J Schmidt
    JAMA 295:1374-6. 2006
  19. ncbi request reprint Increased prevalence of ADHD in Turner syndrome with no evidence of imprinting effects
    Heather F Russell
    Division of Human and Molecular Genetics, Department of Pediatrics, The Children s Hospital of Philadelphia, PA, USA
    J Pediatr Psychol 31:945-55. 2006
    ..However, no studies have assessed whether individuals with TS meet strict (DSM-IV) criteria for attention-deficit/hyperactivity disorder (ADHD)...
  20. ncbi request reprint Growth hormone treatment of early growth failure in toddlers with Turner syndrome: a randomized, controlled, multicenter trial
    Marsha L Davenport
    Division of Pediatric Endocrinology, University of North Carolina, CB 7039, 3341 Medical Biomolecular Research Building, Chapel Hill, North Carolina 27599 7039, USA
    J Clin Endocrinol Metab 92:3406-16. 2007
    ..Typically, growth failure in Turner syndrome (TS) begins prenatally, and height sd score (SDS) declines progressively from birth...
  21. pmc Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency
    Gudrun Rappold
    Department of Molecular Human Genetics, University of Heidelberg, Heidelberg, Germany
    J Med Genet 44:306-13. 2007
    ....
  22. ncbi request reprint The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome
    Judith L Ross
    Department of Pediatrics, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Pediatr 147:499-507. 2005
    ..To evaluate the growth disorder and phenotype in prepubertal children with Leri-Weill dyschondrosteosis (LWD), a dominantly inherited skeletal dysplasia, and to compare the findings from girls with Turner syndrome (TS)...
  23. ncbi request reprint A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHD
    Kym M Boycott
    Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada
    Am J Med Genet A 122:139-47. 2003
    ..3 region is not always associated with the classic presentations of Léri-Weill syndrome, or chondrodysplasia punctata, and that one or more genes involved in learning and attention may reside in Xp22.3...
  24. ncbi request reprint Effect of growth hormone treatment on adult height in peripubertal children with idiopathic short stature: a randomized, double-blind, placebo-controlled trial
    Ellen Werber Leschek
    Developmental Endocrinology Branch, National Institute of Child Health and Human Development NIH, Building 10, Room 10N262, 10 Center Drive, MSC 1862, Bethesda, MD 20892 1862, USA
    J Clin Endocrinol Metab 89:3140-8. 2004
    ..52 SDS; 3.8 cm; P < 0.001; 95% confidence interval, 0.22-0.82 SDS) and no important dropout bias. In conclusion, GH treatment increases adult height in peripubertal children with marked idiopathic short stature...
  25. ncbi request reprint Complete SHOX deficiency causes Langer mesomelic dysplasia
    Andrew R Zinn
    McDermott Center for Human Growth and Development and Department of Internal Medicine, The University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA
    Am J Med Genet 110:158-63. 2002
    ..These findings confirm clinical inferences that Langer mesomelic dysplasia is the homozygous form of Leri-Weill dyschondrosteosis and add to our understanding of genotype/phenotype relationships in SHOX deficiency disorders...
  26. ncbi request reprint Safety of growth hormone treatment in pediatric patients with idiopathic short stature
    Charmian A Quigley
    Lilly Research Laboratories, D C 5015, Indianapolis, Indiana 46285, USA
    J Clin Endocrinol Metab 90:5188-96. 2005
    ..Recombinant human GH was approved by the United States Food and Drug Administration in 2003 for the treatment of idiopathic short stature (ISS). However, to date, the safety of GH in this patient population has not been rigorously studied...
  27. ncbi request reprint Language use in females with fragile X or Turner syndrome during brief initial social interactions
    Michele M M Mazzocco
    Johns Hopkins School of Medicine and Kennedy Krieger Institute, KKI West Campus, 3825 Greenspring Avenue, Baltimore, MD 21211, USA
    J Dev Behav Pediatr 27:319-28. 2006
    ..Our findings suggest that language use may influence social function in females with fragile X syndrome and that such language characteristics may be observed in the context of brief encounters with an unfamiliar adult...
  28. ncbi request reprint Behavioral assessment of social anxiety in females with Turner or fragile X syndrome
    Katarzyna Lesniak-Karpiak
    Kennedy Krieger Institute, USA
    J Autism Dev Disord 33:55-67. 2003
    ..The authors discuss these findings in terms of understanding the nature of social dysfunction in females with Turner or fragile X syndrome...
  29. doi request reprint Effect of ascertainment and genetic features on the phenotype of Klinefelter syndrome
    Martha P D Zeger
    Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA 19107, USA
    J Pediatr 152:716-22. 2008
    ..To describe the Klinefelter Syndrome (KS) phenotype during childhood in a large cohort...
  30. ncbi request reprint Androgen receptor CAGn repeat length influences phenotype of 47,XXY (Klinefelter) syndrome
    Andrew R Zinn
    McDermott Center for Human Growth and Development, and Department of Internal Medicne, University of Texas Southwestern Medical School, 5323 Harry Hines Boulevard, Dallas, Texas 75390 8591, USA
    J Clin Endocrinol Metab 90:5041-6. 2005
    ....
  31. ncbi request reprint EFHC2 SNP rs7055196 is not associated with fear recognition in 45,X Turner syndrome
    Andrew R Zinn
    Department of Internal Medicine and McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, Texas, USA
    Am J Med Genet B Neuropsychiatr Genet 147:507-9. 2008
    ..Other variations in EFHC2 and other candidate genes should be tested for association with social cognition in 45,X TS...
  32. ncbi request reprint Phenotype and X inactivation in 45,X/46,X,r(X) cases
    Kathleen A Leppig
    Genetic Services, Group Health Permanente, Seattle, Washington 98112, USA
    Am J Med Genet A 128:276-84. 2004
    ....
  33. pmc A second recombination hotspot associated with SHOX deletions
    Andrew R Zinn
    Am J Hum Genet 78:523-5. 2006
  34. ncbi request reprint Growth hormone is effective in treatment of short stature associated with short stature homeobox-containing gene deficiency: Two-year results of a randomized, controlled, multicenter trial
    Werner F Blum
    Lilly Research Laboratories, Eli Lilly and Company, Saalburgstrasse 153, D 61350 Bad Homburg, Germany
    J Clin Endocrinol Metab 92:219-28. 2007
    ....
  35. ncbi request reprint Differences in follicle-stimulating hormone secretion between 45,X monosomy Turner syndrome and 45,X/46,XX mosaicism are evident at an early age
    Patricia Y Fechner
    Division of Pediatric Endocrinology, Stanford University, California 94305 5208, USA
    J Clin Endocrinol Metab 91:4896-902. 2006
    ..Little information exists regarding FSH values in very young girls with Turner syndrome (TS)...
  36. pmc Brain development in Turner syndrome: a magnetic resonance imaging study
    Wendy E Brown
    Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, 401 Quarry Road, Stanford, CA 94305 5719, USA
    Psychiatry Res 116:187-96. 2002
    ..Further investigation into the possible role of genomic imprinting is therefore warranted...

Research Grants25

  1. Androgen effect on motor/cognitive outcome in Klinefelter syndrome
    Judith Ross; Fiscal Year: 2007
    ..If successful, androgen replacement in the clinical management of KS would commence early in childhood rather than adolescence or adulthood. ..
  2. GENETICS OF COGNITION IN ADULT TURNER SYNDROME
    Judith Ross; Fiscal Year: 2005
    ..Characterization of specific TS causative genes would provide insight into the pathophysiology of 45,X, Turner syndrome, as well as the process of normal neurocognitive development. ..
  3. ANDROGEN EFFECTS ON COGNITION IN TURNER SYNDROME
    Judith Ross; Fiscal Year: 2007
    ..In addition, these data will help determine how to optimize cognitive function in Turner syndrome and will extend knowledge of the mechanisms of male/female cognitive dimorphisms. ..
  4. Androgen effect on brain structure/function in Klinefelter syndrome
    Judith Ross; Fiscal Year: 2009
    ..We aim to link the structural and functional neuroimaging findings of androgen deficiency and replacement in KS, in order to expand our understanding of mechanisms underlying androgen impact on cognition. ..
  5. ANDROGEN EFFECTS ON COGNITION IN TURNER SYNDROME
    Judith Ross; Fiscal Year: 2003
    ..In addition, these data will help determine how to optimize cognitive function in Turner syndrome, and will extend knowledge of the mechanisms of male/female cognitive dimorphisms. ..
  6. Androgen effect on motor/cognitive outcome in Klinefelter syndrome
    Judith L Ross; Fiscal Year: 2010
    ..If successful, androgen replacement in the clinical management of KS would commence early in childhood rather than adolescence or adulthood. ..