Research Topics
| J L RossSummaryAffiliation: Thomas Jefferson University Country: USA Publications
Research Grants
| Collaborators
|
Detail Information
Publications
An extra X or Y chromosome: contrasting the cognitive and motor phenotypes in childhood in boys with 47,XYY syndrome or 47,XXY Klinefelter syndromeJudith 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....
Effects of treatment with oxandrolone for 4 years on the frequency of severe arithmetic learning disability in girls with Turner syndromeJudith 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...- Cognitive and motor development during childhood in boys with Klinefelter syndromeJudith 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... 
Effects of growth hormone on cognitive functionJudith 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...- Cognition and the sex chromosomes: studies in Turner syndromeJudith 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... - Early androgen deficiency in infants and young boys with 47,XXY Klinefelter syndromeJudith 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... - Psychological adaptation in children with idiopathic short stature treated with growth hormone or placeboJudith 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... - The effect of genetic differences and ovarian failure: intact cognitive function in adult women with premature ovarian failure versus turner syndromeJudith 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... - Androgen-responsive aspects of cognition in girls with Turner syndromeJ 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... - Phenotypes Associated with SHOX DeficiencyJ 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... - Neurodevelopmental and psychosocial aspects of Turner syndromeJ 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... - The Turner syndrome-associated neurocognitive phenotype maps to distal XpJ 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... - Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasiaJudith 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... - Persistent cognitive deficits in adult women with Turner syndromeJ 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... - Use of estrogen in young girls with Turner syndrome: effects on memoryJ 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... - Heart-targeted overexpression of caspase3 in mice increases infarct size and depresses cardiac functionG 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... - 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.... - Shyness, social anxiety, and impaired self-esteem in Turner syndrome and premature ovarian failurePeter J Schmidt
JAMA 295:1374-6. 2006 - Increased prevalence of ADHD in Turner syndrome with no evidence of imprinting effectsHeather 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..CONCLUSIONS: We find an increased prevalence of ADHD in girls with TS but no evidence for imprinting effects for cognitive performance... - Growth hormone treatment of early growth failure in toddlers with Turner syndrome: a randomized, controlled, multicenter trialMarsha 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... - Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiencyGudrun Rappold
Department of Molecular Human Genetics, University of Heidelberg, Heidelberg, Germany
J Med Genet 44:306-13. 2007.... - The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndromeJudith L Ross
Department of Pediatrics, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
J Pediatr 147:499-507. 2005..CONCLUSIONS: Short stature is common in both LWD (girls and boys) and TS (girls). Clinical clues to the diagnosis of SHOX haploinsufficiency in childhood include short stature, short limbs, wrist changes, and tibial bowing... - A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHDKym 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... - Effect of growth hormone treatment on adult height in peripubertal children with idiopathic short stature: a randomized, double-blind, placebo-controlled trialEllen 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... - Complete SHOX deficiency causes Langer mesomelic dysplasiaAndrew 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... - Safety of growth hormone treatment in pediatric patients with idiopathic short statureCharmian 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... - Language use in females with fragile X or Turner syndrome during brief initial social interactionsMichele 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... - Behavioral assessment of social anxiety in females with Turner or fragile X syndromeKatarzyna 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... - Effect of ascertainment and genetic features on the phenotype of Klinefelter syndromeMartha 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... - Androgen receptor CAGn repeat length influences phenotype of 47,XXY (Klinefelter) syndromeAndrew 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.... - EFHC2 SNP rs7055196 is not associated with fear recognition in 45,X Turner syndromeAndrew 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... - Phenotype and X inactivation in 45,X/46,X,r(X) casesKathleen A Leppig
Genetic Services, Group Health Permanente, Seattle, Washington 98112, USA
Am J Med Genet A 128:276-84. 2004.... - A second recombination hotspot associated with SHOX deletionsAndrew R Zinn
Am J Hum Genet 78:523-5. 2006 - 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 trialWerner F Blum
Lilly Research Laboratories, Eli Lilly and Company, Saalburgstrasse 153, D 61350 Bad Homburg, Germany
J Clin Endocrinol Metab 92:219-28. 2007.... - Differences in follicle-stimulating hormone secretion between 45,X monosomy Turner syndrome and 45,X/46,XX mosaicism are evident at an early agePatricia 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)... - Brain development in Turner syndrome: a magnetic resonance imaging studyWendy 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 Grants
- Androgen effect on motor/cognitive outcome in Klinefelter syndromeJudith Ross; Fiscal Year: 2007..If successful, androgen replacement in the clinical management of KS would commence early in childhood rather than adolescence or adulthood. ..
- GENETICS OF COGNITION IN ADULT TURNER SYNDROMEJudith 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. ..
- ANDROGEN EFFECTS ON COGNITION IN TURNER SYNDROMEJudith 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. ..
- Androgen effect on brain structure/function in Klinefelter syndromeJudith 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. ..
- ANDROGEN EFFECTS ON COGNITION IN TURNER SYNDROMEJudith 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. ..
- Androgen effect on motor/cognitive outcome in Klinefelter syndromeJudith 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. ..