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Nicole Renee Tartaglia

TitleProfessor
InstitutionUniversity of Colorado Denver - Anschutz Medical Campus
DepartmentSOM-PEDS
ORCID ORCID Icon0000-0002-8529-6722 Additional info

    Collapse Research 
    Collapse research activities and funding
    U01DD001298     (BERRY-KRAVIS, ELIZABETH MARA)Sep 1, 2021 - Aug 31, 2026
    NIH
    Characterizing the Natural History of Fragile X Syndrome to Inform the Development of Intervention,Outcome Measures
    Role: Co-Principal Investigator
    R01HD091251     (TARTAGLIA, NICOLE RENEE)Sep 6, 2017 - Mar 31, 2028
    NIH
    The eXtraordinarY Babies Study: Natural History of Health and Neurodevelopment in Infants with Sex Chromosome Trisomy
    Role: Principal Investigator
    U01DD001190     (TARTAGLIA, NICOLE RENEE)Sep 1, 2015 - Aug 31, 2020
    NIH
    Colorado: Testing Longitudinal Outcome Measures and Improving Minority Participation in Fragile X FORWARD
    Role: Principal Investigator
    K23NS070337     (TARTAGLIA, NICOLE RENEE)Aug 1, 2011 - Jul 31, 2016
    NIH
    Effects of Testosterone and Genetic Factors on Psychological and Motor Function i
    Role: Principal Investigator

    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. San Roman AK, Skaletsky H, Godfrey AK, Bokil NV, Teitz L, Singh I, Blanton LV, Bellott DW, Pyntikova T, Lange J, Koutseva N, Hughes JF, Brown L, Phou S, Buscetta A, Kruszka P, Banks N, Dutra A, Pak E, Lasutschinkow PC, Keen C, Davis SM, Lin AE, Tartaglia NR, Samango-Sprouse C, Muenke M, Page DC. The human Y and inactive X chromosomes similarly modulate autosomal gene expression. Cell Genom. 2024 Jan 10; 4(1):100462. PMID: 38190107.
      View in: PubMed
    2. Thompson T, Tisher J, Davis S, Miller C, Kirk J, Tartaglia N, Howell S. The emotional journey of adapting to prenatally identified trisomy X. J Genet Couns. 2024 Aug; 33(4):793-804. PMID: 37691399.
      View in: PubMed
    3. San Roman AK, Skaletsky H, Godfrey AK, Bokil NV, Teitz L, Singh I, Blanton LV, Bellott DW, Pyntikova T, Lange J, Koutseva N, Hughes JF, Brown L, Phou S, Buscetta A, Kruszka P, Banks N, Dutra A, Pak E, Lasutschinkow PC, Keen C, Davis SM, Lin AE, Tartaglia NR, Samango-Sprouse C, Muenke M, Page DC. The human Y and inactive X chromosomes similarly modulate autosomal gene expression. bioRxiv. 2023 Jun 07. PMID: 37333288.
      View in: PubMed
    4. Davis SM, Urban R, D'Alessandro A, Reisz JA, Chan CL, Kelsey M, Howell S, Tartaglia N, Zeitler P, Baker Ii P. Unique plasma metabolite signature for adolescents with Klinefelter syndrome reveals altered fatty acid metabolism. Endocr Connect. 2023 May 01; 12(5). PMID: 36884262.
      View in: PubMed
    5. Gravholt CH, Ferlin A, Gromoll J, Juul A, Raznahan A, van Rijn S, Rogol AD, Skakkeb?k A, Tartaglia N, Swaab H. New developments and future trajectories in supernumerary sex chromosome abnormalities: a summary of the 2022 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and XYY. Endocr Connect. 2023 Mar 01; 12(3). PMID: 36598290.
      View in: PubMed
    6. San Roman AK, Godfrey AK, Skaletsky H, Bellott DW, Groff AF, Harris HL, Blanton LV, Hughes JF, Brown L, Phou S, Buscetta A, Kruszka P, Banks N, Dutra A, Pak E, Lasutschinkow PC, Keen C, Davis SM, Tartaglia NR, Samango-Sprouse C, Muenke M, Page DC. The human inactive X chromosome modulates expression of the active X chromosome. Cell Genom. 2023 Feb 08; 3(2):100259. PMID: 36819663.
      View in: PubMed
    7. Berry-Kravis E, Hagerman R, Budimirovic D, Erickson C, Heussler H, Tartaglia N, Cohen J, Tassone F, Dobbins T, Merikle E, Sebree T, Tich N, Palumbo JM, O'Quinn S. A randomized, controlled trial of ZYN002 cannabidiol transdermal gel in children and adolescents with fragile X syndrome (CONNECT-FX). J Neurodev Disord. 2022 11 25; 14(1):56. PMID: 36434514.
      View in: PubMed
    8. Howell S, Davis SM, Thompson T, Brown M, Tanda T, Kowal K, Alston A, Ross J, Tartaglia NR. Noninvasive prenatal screening (NIPS) results for participants of the eXtraordinarY babies study: Screening, counseling, diagnosis, and discordance. J Genet Couns. 2023 02; 32(1):250-259. PMID: 36204975.
      View in: PubMed
    9. Bouw N, Swaab H, Tartaglia N, Wilson RL, Van der Velde K, van Rijn S. Early symptoms of autism spectrum disorder (ASD) in 1-8?year old children with sex chromosome trisomies (XXX, XXY, XYY), and the predictive value of joint attention. Eur Child Adolesc Psychiatry. 2023 Nov; 32(11):2323-2334. PMID: 36107256.
      View in: PubMed
    10. Bouw N, Swaab H, Tartaglia N, Cordeiro L, van Rijn S. The impact of sex chromosome trisomies (XXX, XXY, XYY) on gaze towards faces and affect recognition: a cross-sectional eye tracking study. J Neurodev Disord. 2022 08 02; 14(1):44. PMID: 35918661.
      View in: PubMed
    11. Kuiper KC, Swaab H, Tartaglia N, Cordeiro L, van Rijn S. [Formula: see text] Emotional reactivity and expressivity in young children with sex chromosome trisomies: evidence from psychophysiological and observational data. Child Neuropsychol. 2023 05; 29(4):569-587. PMID: 35876333.
      View in: PubMed
    12. Albizua I, Charen K, Shubeck L, Talboy A, Berry-Kravis E, Kaufmann WE, Stallworth JL, Drazba KT, Erickson CA, Sweeney JA, Tartaglia N, Warren SF, Hagerman R, Sherman SL, Warren ST, Jin P, Allen EG. Descriptive analysis of seizures and comorbidities associated with fragile X syndrome. Mol Genet Genomic Med. 2022 08; 10(8):e2001. PMID: 35852003.
      View in: PubMed
    13. Thompson T, Davis S, Janusz J, Frith E, Pyle L, Howell S, Boada R, Wilson R, Tartaglia N. Supporting students with sex chromosome aneuploidies in educational settings: Results of a nationwide survey. J Sch Psychol. 2022 08; 93:28-40. PMID: 35934449.
      View in: PubMed
    14. Kuiper KC, Swaab H, Tartaglia N, van Buggenhout G, Wouters C, van Rijn S. The developmental impact of sex chromosome trisomies on emerging executive functions in young children: Evidence from neurocognitive tests and daily life skills. Genes Brain Behav. 2022 07; 21(6):e12811. PMID: 35584398.
      View in: PubMed
    15. Bouw N, Swaab H, Tartaglia N, Cordeiro L, van Rijn S. Early Social Behavior in Young Children with Sex Chromosome Trisomies (XXX, XXY, XYY): Profiles of Observed Social Interactions and Social Impairments Associated with Autism Spectrum Disorder (ASD). J Autism Dev Disord. 2023 Aug; 53(8):3194-3207. PMID: 35551591.
      View in: PubMed
    16. Urbanus E, Swaab H, Tartaglia N, Stumpel C, van Rijn S. Structural and pragmatic language in young children with sex chromosome trisomy (XXX, XXY, XYY): Predictive value for neurobehavioral problems one year later. Clin Neuropsychol. 2023 04; 37(3):650-675. PMID: 35477417.
      View in: PubMed
    17. Bouw N, Swaab H, Tartaglia N, Jansen AC, van Rijn S. Early impact of X- and Y-chromosome variations (XXX, XXY, XYY) on social communication and social emotional development in 1-2-year-old children. Am J Med Genet A. 2022 07; 188(7):1943-1953. PMID: 35285124.
      View in: PubMed
    18. Thompson T, Stinnett N, Tartaglia N, Davis S, Janusz J. 'I Wish the School Had a Better Understanding of the Diagnosis': parent perspectives on educational needs of students with sex chromosome aneuploidies. J Res Spec Educ Needs. 2022 Apr; 22(2):175-187. PMID: 35529320.
      View in: PubMed
    19. Bouw N, Swaab H, Tartaglia N, van Rijn S. The Impact of Sex Chromosome Trisomies (XXX, XXY, XYY) on Early Social Cognition: Social Orienting, Joint Attention, and Theory of Mind. Arch Clin Neuropsychol. 2022 Jan 17; 37(1):63-77. PMID: 34101798.
      View in: PubMed
    20. Howell S, Buchanan C, Davis SM, Miyazawa H, Furuta GT, Tartaglia NR, Nguyen N. Eosinophilic esophagitis in individuals with sex chromosome aneuploidies: Clinical presentations and management implications. Mol Genet Genomic Med. 2021 12; 9(12):e1833. PMID: 34738344.
      View in: PubMed
    21. Budimirovic DB, Dominick KC, Gabis LV, Adams M, Adera M, Huang L, Ventola P, Tartaglia NR, Berry-Kravis E. Gaboxadol in Fragile X Syndrome: A 12-Week Randomized, Double-Blind, Parallel-Group, Phase 2a Study. Front Pharmacol. 2021; 12:757825. PMID: 34690787.
      View in: PubMed
    22. Urbanus E, Swaab H, Tartaglia N, Boada R, van Rijn S. [Formula: see text]A cross-sectional study of early language abilities in children with sex chromosome trisomy (XXY, XXX, XYY) aged 1-6 years. Child Neuropsychol. 2022 02; 28(2):171-196. PMID: 34346838.
      View in: PubMed
    23. Kuiper K, Swaab H, Tartaglia N, van Rijn S. Early developmental impact of sex chromosome trisomies on attention deficit-hyperactivity disorder symptomology in young children. Am J Med Genet A. 2021 12; 185(12):3664-3674. PMID: 34240550.
      View in: PubMed
    24. Westmark CJ, Kniss C, Sampene E, Wang A, Milunovich A, Elver K, Hessl D, Talboy A, Picker J, Haas-Givler B, Esler A, Gropman AL, Uy R, Erickson C, Velinov M, Tartaglia N, Berry-Kravis EM. Soy-Based Infant Formula is Associated with an Increased Prevalence of Comorbidities in Fragile X Syndrome. Nutrients. 2020 Oct 14; 12(10). PMID: 33066511.
      View in: PubMed
    25. Davis SM, Soares K, Howell S, Cree-Green M, Buyers E, Johnson J, Tartaglia NR. Diminished Ovarian Reserve in Girls and Adolescents with Trisomy X Syndrome. Reprod Sci. 2020 11; 27(11):1985-1991. PMID: 32578162.
      View in: PubMed
    26. Wigby K, Cordeiro L, Wilson R, Angkustsiri K, Simon TJ, Tartaglia N. Adaptive functioning in children and adolescents with Trisomy X: An exploratory analysis. Am J Med Genet C Semin Med Genet. 2020 06; 184(2):456-468. PMID: 32548885.
      View in: PubMed
    27. Davis SM, DeKlotz S, Nadeau KJ, Kelsey MM, Zeitler PS, Tartaglia NR. High prevalence of cardiometabolic risk features in adolescents with 47,XXY/Klinefelter syndrome. Am J Med Genet C Semin Med Genet. 2020 06; 184(2):327-333. PMID: 32542985.
      View in: PubMed
    28. Janusz J, Harrison C, Boada C, Cordeiro L, Howell S, Tartaglia N, Boada R. Executive function in XXY: Comparison of performance-based measures and rating scales. Am J Med Genet C Semin Med Genet. 2020 06; 184(2):469-481. PMID: 32519473.
      View in: PubMed
    29. Tartaglia N, Howell S, Davis S, Kowal K, Tanda T, Brown M, Boada C, Alston A, Crawford L, Thompson T, van Rijn S, Wilson R, Janusz J, Ross J. Early neurodevelopmental and medical profile in children with sex chromosome trisomies: Background for the prospective eXtraordinarY babies study to identify early risk factors and targets for intervention. Am J Med Genet C Semin Med Genet. 2020 06; 184(2):428-443. PMID: 32506668.
      View in: PubMed
    30. Cordeiro L, Villagomez A, Swain D, Deklotz S, Tartaglia N. Adaptive Skills in FXS: A Review of the Literature and Evaluation of the PEDI-Computer Adaptive Test (PEDI-CAT) to Measure Adaptive Skills. Brain Sci. 2020 Jun 06; 10(6). PMID: 32517224.
      View in: PubMed
    31. Gravholt CH, Tartaglia N, Disteche C. Sex chromosome aneuploidies in 2020-The state of care and research in the world. Am J Med Genet C Semin Med Genet. 2020 06; 184(2):197-201. PMID: 32496026.
      View in: PubMed
    32. Hallgr?msson B, Aponte JD, Katz DC, Bannister JJ, Riccardi SL, Mahasuwan N, McInnes BL, Ferrara TM, Lipman DM, Neves AB, Spitzmacher JAJ, Larson JR, Bellus GA, Pham AM, Aboujaoude E, Benke TA, Chatfield KC, Davis SM, Elias ER, Enzenauer RW, French BM, Pickler LL, Shieh JTC, Slavotinek A, Harrop AR, Innes AM, McCandless SE, McCourt EA, Meeks NJL, Tartaglia NR, Tsai AC, Wyse JPH, Bernstein JA, Sanchez-Lara PA, Forkert ND, Bernier FP, Spritz RA, Klein OD. Automated syndrome diagnosis by three-dimensional facial imaging. Genet Med. 2020 10; 22(10):1682-1693. PMID: 32475986.
      View in: PubMed
    33. Thompson T, Howell S, Davis S, Wilson R, Janusz J, Boada R, Pyle L, Tartaglia N. Current survey of early childhood intervention services in infants and young children with sex chromosome aneuploidies. Am J Med Genet C Semin Med Genet. 2020 06; 184(2):414-427. PMID: 32449585.
      View in: PubMed
    34. Berry-Kravis E, Horrigan JP, Tartaglia N, Hagerman R, Kolevzon A, Erickson CA, Hatti S, Snape M, Yaroshinsky A, Stoms G, Glass L, Jones NE. A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Fragile X Syndrome. Pediatr Neurol. 2020 09; 110:30-41. PMID: 32660869.
      View in: PubMed
    35. Urbanus E, Swaab H, Tartaglia N, Cordeiro L, van Rijn S. The behavioral profile of children aged 1-5?years with sex chromosome trisomy (47,XXX, 47,XXY, 47,XYY). Am J Med Genet C Semin Med Genet. 2020 06; 184(2):444-455. PMID: 32432413.
      View in: PubMed
    36. Cordeiro L, Braden M, Coan E, Welnick N, Tanda T, Tartaglia N. Evaluating Social Interactions Using the Autism Screening Instrument for Education Planning-3rd Edition (ASIEP-3): Interaction Assessment in Children and Adults with Fragile X Syndrome. Brain Sci. 2020 Apr 22; 10(4). PMID: 32331269.
      View in: PubMed
    37. Reisinger DL, Shaffer RC, Tartaglia N, Berry-Kravis E, Erickson CA. Delineating Repetitive Behavior Profiles across the Lifespan in Fragile X Syndrome. Brain Sci. 2020 Apr 17; 10(4). PMID: 32316611.
      View in: PubMed
    38. Coffman MC, Shaffer RC, Schmitt LM, Dominick KC, Pedapati E, Wang A, Berry-Kravis E, Tartaglia N, Erickson CA. Examination of Correlates to Health-Related Quality of Life in Individuals with Fragile X Syndrome. Brain Sci. 2020 Apr 04; 10(4). PMID: 32260381.
      View in: PubMed
    39. Hoffmann A, Wang A, Berger N, Cordeiro L, Shaffer R, Tartaglia N, Erickson C, Berry-Kravis E. Language across the Lifespan in Fragile X Syndrome: Characteristics and Considerations for Assessment. Brain Sci. 2020 Apr 04; 10(4). PMID: 32260354.
      View in: PubMed
    40. McCabe KL, Popa AM, Durdle C, Amato M, Cabaral MH, Cruz J, Wong LM, Harvey D, Tartaglia N, Simon TJ. Quantifying the resolution of spatial and temporal representation in children with 22q11.2 deletion syndrome. J Neurodev Disord. 2019 12 20; 11(1):40. PMID: 31861974.
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    41. Berry-Kravis E, Kidd SA, Lachiewicz AM, Choo TH, Tartaglia N, Talapatra D, Aguirre-Kolb C, Andrews H, Riley K. Toilet Training in Fragile X Syndrome. J Dev Behav Pediatr. 2019 12; 40(9):751-761. PMID: 31593026.
      View in: PubMed
    42. Eckert EM, Dominick KC, Pedapati EV, Wink LK, Shaffer RC, Andrews H, Choo TH, Chen C, Kaufmann WE, Tartaglia N, Berry-Kravis EM, Erickson CA. Pharmacologic Interventions for Irritability, Aggression, Agitation and Self-Injurious Behavior in Fragile X Syndrome: An Initial Cross-Sectional Analysis. J Autism Dev Disord. 2019 Nov; 49(11):4595-4602. PMID: 31468273.
      View in: PubMed
    43. Davis SM, Reynolds RM, Dabelea DM, Zeitler PS, Tartaglia NR. Testosterone Treatment in Infants With 47,XXY: Effects on Body Composition. J Endocr Soc. 2019 Dec 01; 3(12):2276-2285. PMID: 31737857.
      View in: PubMed
    44. Tartaglia N, Bonn-Miller M, Hagerman R. Treatment of Fragile X Syndrome with Cannabidiol: A Case Series Study and Brief Review of the Literature. Cannabis Cannabinoid Res. 2019; 4(1):3-9. PMID: 30944868.
      View in: PubMed
    45. Hutaff-Lee C, Bennett E, Howell S, Tartaglia N. Clinical developmental, neuropsychological, and social-emotional features of Turner syndrome. Am J Med Genet C Semin Med Genet. 2019 03; 181(1):126-134. PMID: 30767374.
      View in: PubMed
    46. Martin S, Cordeiro L, Richardson P, Davis S, Tartaglia N. The Association of Motor Skills and Adaptive Functioning in XXY/Klinefelter and XXYY Syndromes. Phys Occup Ther Pediatr. 2019; 39(4):446-459. PMID: 30592247.
      View in: PubMed
    47. Dy ABC, Tassone F, Eldeeb M, Salcedo-Arellano MJ, Tartaglia N, Hagerman R. Metformin as targeted treatment in fragile X syndrome. Clin Genet. 2018 02; 93(2):216-222. PMID: 28436599.
      View in: PubMed
    48. Tartaglia NR, Wilson R, Miller JS, Rafalko J, Cordeiro L, Davis S, Hessl D, Ross J. Autism Spectrum Disorder in Males with Sex Chromosome Aneuploidy: XXY/Klinefelter Syndrome, XYY, and XXYY. J Dev Behav Pediatr. 2017 Apr; 38(3):197-207. PMID: 28333849.
      View in: PubMed
    49. Ross JL, Kushner H, Kowal K, Bardsley M, Davis S, Reiss AL, Tartaglia N, Roeltgen D. Androgen Treatment Effects on Motor Function, Cognition, and Behavior in Boys with Klinefelter Syndrome. J Pediatr. 2017 06; 185:193-199.e4. PMID: 28285751.
      View in: PubMed
    50. Sison V, Stackhouse T, Breeze R, Hall T, McKenzie P, Tartaglia N. Arteriovenous Malformation in a Youth with Atypical Autism Symptoms. J Child Dev Disord. 2017; 3(1). PMID: 28989994.
      View in: PubMed
    51. Wigby K, D'Epagnier C, Howell S, Reicks A, Wilson R, Cordeiro L, Tartaglia N. Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosis. Am J Med Genet A. 2016 11; 170(11):2870-2881. PMID: 27644018.
      View in: PubMed
    52. Liu JA, Hagerman RJ, Miller RM, Craft LT, Finucane B, Tartaglia N, Berry-Kravis EM, Sherman SL, Kidd SA, Cohen J. Clinicians' experiences with the fragile X clinical and research consortium. Am J Med Genet A. 2016 12; 170(12):3138-3143. PMID: 27604509.
      View in: PubMed
    53. Davis S, Howell S, Wilson R, Tanda T, Ross J, Zeitler P, Tartaglia N. Advances in the Interdisciplinary Care of Children with Klinefelter Syndrome. Adv Pediatr. 2016 08; 63(1):15-46. PMID: 27426894.
      View in: PubMed
    54. Tartaglia N, Howell S, Wilson R, Janusz J, Boada R, Martin S, Frazier JB, Pfeiffer M, Regan K, McSwegin S, Zeitler P. The eXtraordinarY Kids Clinic: an interdisciplinary model of care for children and adolescents with sex chromosome aneuploidy. J Multidiscip Healthc. 2015; 8:323-34. PMID: 26229481.
      View in: PubMed
    55. Ross JL, Tartaglia N, Merry DE, Dalva M, Zinn AR. Behavioral phenotypes in males with XYY and possible role of increased NLGN4Y expression in autism features. Genes Brain Behav. 2015 Feb; 14(2):137-44. PMID: 25558953.
      View in: PubMed
    56. Dennis A, Howell S, Cordeiro L, Tartaglia N. "How should I tell my child?" Disclosing the diagnosis of sex chromosome aneuploidies. J Genet Couns. 2015 Feb; 24(1):88-103. PMID: 25179748.
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    57. Bardsley MZ, Kowal K, Levy C, Gosek A, Ayari N, Tartaglia N, Lahlou N, Winder B, Grimes S, Ross JL. 47,XYY syndrome: clinical phenotype and timing of ascertainment. J Pediatr. 2013 Oct; 163(4):1085-94. PMID: 23810129.
      View in: PubMed
    58. Visootsak J, Ayari N, Howell S, Lazarus J, Tartaglia N. Timing of diagnosis of 47,XXY and 48,XXYY: a survey of parent experiences. Am J Med Genet A. 2013 Feb; 161A(2):268-72. PMID: 23322622.
      View in: PubMed
    59. Hutaff-Lee C, Cordeiro L, Tartaglia N. Cognitive and medical features of chromosomal aneuploidy. Handb Clin Neurol. 2013; 111:273-9. PMID: 23622175.
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    60. Schaaf CP, Boone PM, Sampath S, Williams C, Bader PI, Mueller JM, Shchelochkov OA, Brown CW, Crawford HP, Phalen JA, Tartaglia NR, Evans P, Campbell WM, Tsai AC, Parsley L, Grayson SW, Scheuerle A, Luzzi CD, Thomas SK, Eng PA, Kang SH, Patel A, Stankiewicz P, Cheung SW. Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions. Eur J Hum Genet. 2012 Dec; 20(12):1240-7. PMID: 22617343.
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    61. Tartaglia NR, Ayari N, Hutaff-Lee C, Boada R. Attention-deficit hyperactivity disorder symptoms in children and adolescents with sex chromosome aneuploidy: XXY, XXX, XYY, and XXYY. J Dev Behav Pediatr. 2012 May; 33(4):309-18. PMID: 22333574.
      View in: PubMed
    62. Hager K, Jennings K, Hosono S, Howell S, Gruen JR, Rivkees SA, Tartaglia NR, Rinder HM. Molecular diagnostic testing for Klinefelter syndrome and other male sex chromosome aneuploidies. Int J Pediatr Endocrinol. 2012 Apr 23; 2012(1):8. PMID: 22524164.
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    63. Cordeiro L, Tartaglia N, Roeltgen D, Ross J. Social deficits in male children and adolescents with sex chromosome aneuploidy: a comparison of XXY, XYY, and XXYY syndromes. Res Dev Disabil. 2012 Jul-Aug; 33(4):1254-63. PMID: 22502852.
      View in: PubMed
    64. Ross JL, Roeltgen DP, Kushner H, Zinn AR, Reiss A, Bardsley MZ, McCauley E, Tartaglia N. Behavioral and social phenotypes in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome. Pediatrics. 2012 Apr; 129(4):769-78. PMID: 22412026.
      View in: PubMed
    65. Tartaglia N, Ayari N, Howell S, D'Epagnier C, Zeitler P. 48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome. Acta Paediatr. 2011 Jun; 100(6):851-60. PMID: 21342258.
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    66. Tartaglia N, Cordeiro L, Howell S, Wilson R, Janusz J. The spectrum of the behavioral phenotype in boys and adolescents 47,XXY (Klinefelter syndrome). Pediatr Endocrinol Rev. 2010 Dec; 8 Suppl 1:151-9. PMID: 21217607.
      View in: PubMed
    67. Rogol AD, Tartaglia N. Considerations for androgen therapy in children and adolescents with Klinefelter syndrome (47, XXY). Pediatr Endocrinol Rev. 2010 Dec; 8 Suppl 1:145-50. PMID: 21217606.
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    68. Rogol AD, Tartaglia N. Klinefelter syndrome (KS). Foreword. Pediatr Endocrinol Rev. 2010 Dec; 8 Suppl 1:139. PMID: 21302533.
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    69. Utari A, Adams E, Berry-Kravis E, Chavez A, Scaggs F, Ngotran L, Boyd A, Hessl D, Gane LW, Tassone F, Tartaglia N, Leehey MA, Hagerman RJ. Aging in fragile X syndrome. J Neurodev Disord. 2010 Jun; 2(2):70-76. PMID: 20585378.
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    70. Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L. A review of trisomy X (47,XXX). Orphanet J Rare Dis. 2010 May 11; 5:8. PMID: 20459843.
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    71. Stevens L, Tartaglia N, Hagerman R, Riley K. Clinical report: a male with Down syndrome, fragile X syndrome, and autism. J Dev Behav Pediatr. 2010 May; 31(4):333-7. PMID: 20453578.
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    72. Ottesen AM, Aksglaede L, Garn I, Tartaglia N, Tassone F, Gravholt CH, Bojesen A, S?rensen K, J?rgensen N, Rajpert-De Meyts E, Gerdes T, Lind AM, Kjaergaard S, Juul A. Increased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy. Am J Med Genet A. 2010 May; 152A(5):1206-12. PMID: 20425825.
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    73. Tartaglia N, Borodyanskaya M, Borodyanskya M, Hall DA. Tremor in 48,XXYY syndrome. Mov Disord. 2009 Oct 15; 24(13):2001-7. PMID: 19705466.
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    74. Boada R, Janusz J, Hutaff-Lee C, Tartaglia N. The cognitive phenotype in Klinefelter syndrome: a review of the literature including genetic and hormonal factors. Dev Disabil Res Rev. 2009; 15(4):284-94. PMID: 20014369.
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    75. Hagerman RJ, Berry-Kravis E, Kaufmann WE, Ono MY, Tartaglia N, Lachiewicz A, Kronk R, Delahunty C, Hessl D, Visootsak J, Picker J, Gane L, Tranfaglia M. Advances in the treatment of fragile X syndrome. Pediatrics. 2009 Jan; 123(1):378-90. PMID: 19117905.
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    76. Greco CM, Tassone F, Garcia-Arocena D, Tartaglia N, Coffey SM, Vartanian TK, Brunberg JA, Hagerman PJ, Hagerman RJ. Clinical and neuropathologic findings in a woman with the FMR1 premutation and multiple sclerosis. Arch Neurol. 2008 Aug; 65(8):1114-6. PMID: 18695063.
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    77. Garc?a-Nonell C, Ratera ER, Harris S, Hessl D, Ono MY, Tartaglia N, Marvin E, Tassone F, Hagerman RJ. Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder. Am J Med Genet A. 2008 Aug 01; 146A(15):1911-6. PMID: 18627038.
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    78. Tartaglia N, Davis S, Hench A, Nimishakavi S, Beauregard R, Reynolds A, Fenton L, Albrecht L, Ross J, Visootsak J, Hansen R, Hagerman R. A new look at XXYY syndrome: medical and psychological features. Am J Med Genet A. 2008 Jun 15; 146A(12):1509-22. PMID: 18481271.
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    79. Coffey SM, Cook K, Tartaglia N, Tassone F, Nguyen DV, Pan R, Bronsky HE, Yuhas J, Borodyanskaya M, Grigsby J, Doerflinger M, Hagerman PJ, Hagerman RJ. Expanded clinical phenotype of women with the FMR1 premutation. Am J Med Genet A. 2008 Apr 15; 146A(8):1009-16. PMID: 18348275.
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    80. Ben-Shachar S, Ou Z, Shaw CA, Belmont JW, Patel MS, Hummel M, Amato S, Tartaglia N, Berg J, Sutton VR, Lalani SR, Chinault AC, Cheung SW, Lupski JR, Patel A. 22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am J Hum Genet. 2008 Jan; 82(1):214-21. PMID: 18179902.
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    81. Visootsak J, Rosner B, Dykens E, Tartaglia N, Graham JM. Behavioral phenotype of sex chromosome aneuploidies: 48,XXYY, 48,XXXY, and 49,XXXXY. Am J Med Genet A. 2007 Jun 01; 143A(11):1198-203. PMID: 17497714.
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    82. Berry-Kravis E, Goetz CG, Leehey MA, Hagerman RJ, Zhang L, Li L, Nguyen D, Hall DA, Tartaglia N, Cogswell J, Tassone F, Hagerman PJ. Neuropathic features in fragile X premutation carriers. Am J Med Genet A. 2007 Jan 01; 143A(1):19-26. PMID: 17152065.
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    83. Thomas JA, Johnson J, Peterson Kraai TL, Wilson R, Tartaglia N, LeRoux J, Beischel L, McGavran L, Hagerman RJ. Genetic and clinical characterization of patients with an interstitial duplication 15q11-q13, emphasizing behavioral phenotype and response to treatment. Am J Med Genet A. 2003 Jun 01; 119A(2):111-20. PMID: 12749048.
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    84. Tartaglia N, Du J, Tyler WJ, Neale E, Pozzo-Miller L, Lu B. Protein synthesis-dependent and -independent regulation of hippocampal synapses by brain-derived neurotrophic factor. J Biol Chem. 2001 Oct 05; 276(40):37585-93. PMID: 11483592.
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    85. Gottschalk WA, Jiang H, Tartaglia N, Feng L, Figurov A, Lu B. Signaling mechanisms mediating BDNF modulation of synaptic plasticity in the hippocampus. Learn Mem. 1999 May-Jun; 6(3):243-56. PMID: 10492006.
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    86. Goehler LE, Relton JK, Dripps D, Kiechle R, Tartaglia N, Maier SF, Watkins LR. Vagal paraganglia bind biotinylated interleukin-1 receptor antagonist: a possible mechanism for immune-to-brain communication. Brain Res Bull. 1997; 43(3):357-64. PMID: 9227848.
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    87. Goehler LE, Busch CR, Tartaglia N, Relton J, Sisk D, Maier SF, Watkins LR. Blockade of cytokine induced conditioned taste aversion by subdiaphragmatic vagotomy: further evidence for vagal mediation of immune-brain communication. Neurosci Lett. 1995 Feb 13; 185(3):163-6. PMID: 7753482.
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    88. Watkins LR, Goehler LE, Relton JK, Tartaglia N, Silbert L, Martin D, Maier SF. Blockade of interleukin-1 induced hyperthermia by subdiaphragmatic vagotomy: evidence for vagal mediation of immune-brain communication. Neurosci Lett. 1995 Jan 02; 183(1-2):27-31. PMID: 7746479.
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