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Nicole Tartaglia to Humans

This is a "connection" page, showing publications Nicole Tartaglia has written about Humans.

 
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0.548
 
  1. Thompson T, Bothwell S, Janusz J, Wilson R, Howell S, Davis S, Swenson K, Martin S, Kowal K, Ikomi C, Despradel M, Ross J, Tartaglia N. Quantifying the Spectrum of Early Motor and Language Milestones in Sex Chromosome Trisomy. Obstet Gynecol Surv. 2026 Jan 01; 81(1):12-14.
    View in: PubMed
    Score: 0.023
  2. Davis SM, Marshall TE, Swenson KS, Bothwell S, Nokoff NJ, Middleton A, Furniss A, Alkhdour M, Christakis DA, Elliott VA, Heeley J, Ikomi C, Ross J, Stone SI, Vogiatzi MG, Tartaglia NR. Reference Growth Charts for Children With 47,XXY/Klinefelter Syndrome. Pediatrics. 2025 Dec 01; 156(6).
    View in: PubMed
    Score: 0.023
  3. Davis SM, Howell S, Janusz J, Lahlou N, Reynolds R, Thompson T, Swenson K, Wilson R, Ross JL, Zeitler PS, Tartaglia NR. Testosterone Effects on Short-term Physical, Hormonal, and Neurodevelopmental Outcomes (TESTO) in Infants With 47,XXY. J Clin Endocrinol Metab. 2025 Nov 18; 110(12):3493-3504.
    View in: PubMed
    Score: 0.023
  4. Wilson R, Bothwell S, Takamatsu SK, Thompson T, Swenson K, Werner E, Tartaglia N. Social communication skills profile in infants with sex chromosome trisomy at 12 months of age. Infant Behav Dev. 2025 Jun; 79:102061.
    View in: PubMed
    Score: 0.022
  5. Dreyer J, Howell S, Bothwell S, Molison K, Carl A, Swenson K, Davis S, Decker G, Tartaglia N. Psychotropic Medication Use in 48,XXYY Syndrome. Am J Med Genet A. 2025 Aug; 197(8):e64077.
    View in: PubMed
    Score: 0.022
  6. 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.
    View in: PubMed
    Score: 0.018
  7. 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.
    View in: PubMed
    Score: 0.018
  8. 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.
    View in: PubMed
    Score: 0.016
  9. 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.
    View in: PubMed
    Score: 0.016
  10. 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.
    View in: PubMed
    Score: 0.016
  11. 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.
    View in: PubMed
    Score: 0.016
  12. 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.
    View in: PubMed
    Score: 0.016
  13. 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.
    View in: PubMed
    Score: 0.014
  14. 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.
    View in: PubMed
    Score: 0.014
  15. 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.
    View in: PubMed
    Score: 0.013
  16. 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.
    View in: PubMed
    Score: 0.012
  17. 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.
    View in: PubMed
    Score: 0.012
  18. 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.
    View in: PubMed
    Score: 0.011
  19. 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.
    View in: PubMed
    Score: 0.009
  20. Hutaff-Lee C, Cordeiro L, Tartaglia N. Cognitive and medical features of chromosomal aneuploidy. Handb Clin Neurol. 2013; 111:273-9.
    View in: PubMed
    Score: 0.009
  21. 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.
    View in: PubMed
    Score: 0.009
  22. 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.
    View in: PubMed
    Score: 0.009
  23. 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.
    View in: PubMed
    Score: 0.008
  24. 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.
    View in: PubMed
    Score: 0.008
  25. 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.
    View in: PubMed
    Score: 0.008
  26. Rogol AD, Tartaglia N. Klinefelter syndrome (KS). Foreword. Pediatr Endocrinol Rev. 2010 Dec; 8 Suppl 1:139.
    View in: PubMed
    Score: 0.008
  27. 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.
    View in: PubMed
    Score: 0.008
  28. Tartaglia N, Borodyanskaya M, Borodyanskya M, Hall DA. Tremor in 48,XXYY syndrome. Mov Disord. 2009 Oct 15; 24(13):2001-7.
    View in: PubMed
    Score: 0.008
  29. 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.
    View in: PubMed
    Score: 0.007
  30. 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.
    View in: PubMed
    Score: 0.007
  31. Klamut N, Bothwell S, Carl AE, Bamba V, Law JR, Brickman WJ, Klein KO, Kanakatti Shankar R, Pinnaro CT, Fechner PY, Prakash SK, Gutmark-Little I, Howell S, Tartaglia N, Good M, Ranallo KC, Davis SM. Prevalence, diagnostic features, and medical outcomes of females with Turner syndrome with a trisomy X cell line (45,X/47,XXX): Results from the InsighTS Registry. Am J Med Genet A. 2024 12; 194(12):e63819.
    View in: PubMed
    Score: 0.005
  32. 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.
    View in: PubMed
    Score: 0.005
  33. 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 08; 33(4):793-804.
    View in: PubMed
    Score: 0.005
  34. 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.
    View in: PubMed
    Score: 0.005
  35. 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.
    View in: PubMed
    Score: 0.005
  36. 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.
    View in: PubMed
    Score: 0.005
  37. Kuiper KC, Swaab H, Tartaglia N, Cordeiro L, van Rijn S. 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.
    View in: PubMed
    Score: 0.005
  38. 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.
    View in: PubMed
    Score: 0.005
  39. 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.
    View in: PubMed
    Score: 0.005
  40. 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.
    View in: PubMed
    Score: 0.004
  41. 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.
    View in: PubMed
    Score: 0.004
  42. 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.
    View in: PubMed
    Score: 0.004
  43. 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.
    View in: PubMed
    Score: 0.004
  44. 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.
    View in: PubMed
    Score: 0.004
  45. Urbanus E, Swaab H, Tartaglia N, Boada R, van Rijn S. 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.
    View in: PubMed
    Score: 0.004
  46. 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.
    View in: PubMed
    Score: 0.004
  47. 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).
    View in: PubMed
    Score: 0.004
  48. 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.
    View in: PubMed
    Score: 0.004
  49. 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.
    View in: PubMed
    Score: 0.004
  50. Hallgrímsson 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.
    View in: PubMed
    Score: 0.004
  51. 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.
    View in: PubMed
    Score: 0.004
  52. 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.
    View in: PubMed
    Score: 0.004
  53. 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.
    View in: PubMed
    Score: 0.004
  54. 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.
    View in: PubMed
    Score: 0.004
  55. 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.
    View in: PubMed
    Score: 0.004
  56. 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.
    View in: PubMed
    Score: 0.003
  57. 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.
    View in: PubMed
    Score: 0.003
  58. 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.
    View in: PubMed
    Score: 0.003
  59. 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.
    View in: PubMed
    Score: 0.003
  60. 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.
    View in: PubMed
    Score: 0.002
  61. 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.
    View in: PubMed
    Score: 0.002
  62. 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.
    View in: PubMed
    Score: 0.002
  63. Ottesen AM, Aksglaede L, Garn I, Tartaglia N, Tassone F, Gravholt CH, Bojesen A, Sørensen K, Jørgensen 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.
    View in: PubMed
    Score: 0.002
  64. 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.
    View in: PubMed
    Score: 0.002
  65. 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.
    View in: PubMed
    Score: 0.002
  66. García-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.
    View in: PubMed
    Score: 0.002
  67. 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.
    View in: PubMed
    Score: 0.002
  68. 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.
    View in: PubMed
    Score: 0.002
  69. 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.
    View in: PubMed
    Score: 0.002
  70. 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.
    View in: PubMed
    Score: 0.002
  71. 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.
    View in: PubMed
    Score: 0.002
  72. 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.
    View in: PubMed
    Score: 0.001
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