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There are 11087 results for: content related to: Timing of diagnosis of 47,XXY and 48,XXYY: A survey of parent experiences

  1. 48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome

    Acta Paediatrica

    Volume 100, Issue 6, June 2011, Pages: 851–860, Nicole Tartaglia, Natalie Ayari, Susan Howell, Cheryl D’Epagnier and Philip Zeitler

    Version of Record online : 8 APR 2011, DOI: 10.1111/j.1651-2227.2011.02235.x

  2. Klinefelter Syndrome

    Standard Article

    Management of Genetic Syndromes

    Joe Leigh Simpson, John M. Graham, Carole Samango-sprouse and Ronald Swerdloff

    Published Online : 14 JAN 2005, DOI: 10.1002/0471695998.mgs028

  3. A new look at XXYY syndrome: Medical and psychological features

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 12, 15 June 2008, Pages: 1509–1522, Nicole Tartaglia, Shanlee Davis, Alison Hench, Sheela Nimishakavi, Renee Beauregard, Ann Reynolds, Laura Fenton, Lindsey Albrecht, Judith Ross, Jeannie Visootsak, Robin Hansen and Randi Hagerman

    Version of Record online : 14 MAY 2008, DOI: 10.1002/ajmg.a.32366

  4. Neurocognitive variance and neurological underpinnings of the X and Y chromosomal variations

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 163, Issue 1, 15 February 2013, Pages: 35–43, Andrea Gropman and Carole A. Samango-Sprouse

    Version of Record online : 18 JAN 2013, DOI: 10.1002/ajmg.c.31352

  5. Evidence of skewed X-chromosome inactivation in 47,XXY and 48,XXYY Klinefelter patients

    American Journal of Medical Genetics

    Volume 98, Issue 1, 1 January 2001, Pages: 25–31, Yoshinori Iitsuka, Amanda Bock, Dianne D. Nguyen, Carole A. Samango-Sprouse, Joe Leigh Simpson and Farideh Z. Bischoff

    Version of Record online : 15 DEC 2000, DOI: 10.1002/1096-8628(20010101)98:1<25::AID-AJMG1015>3.0.CO;2-X

  6. Tremor in 48,XXYY syndrome

    Movement Disorders

    Volume 24, Issue 13, 15 October 2009, Pages: 2001–2007, Nicole Tartaglia, Mariya Borodyanskya and Deborah A. Hall

    Version of Record online : 24 AUG 2009, DOI: 10.1002/mds.22700

    Corrected by:

    Errata: Errata: Tremor in 48, XXYY Syndrome

    Vol. 25, Issue 11, 1764, Version of Record online: 19 AUG 2010

  7. Reduced size of the amygdala in individuals with 47,XXY and 47,XXX karyotypes

    American Journal of Medical Genetics

    Volume 114, Issue 1, 8 January 2002, Pages: 93–98, Anil J. Patwardhan, Wendy E. Brown, Bruce G. Bender, Mary G. Linden, Stephan Eliez and Allan L. Reiss

    Version of Record online : 5 DEC 2001, DOI: 10.1002/ajmg.10154

  8. Positive effects of short course androgen therapy on the neurodevelopmental outcome in boys with 47,XXY syndrome at 36 and 72 months of age

    American Journal of Medical Genetics Part A

    Volume 161, Issue 3, March 2013, Pages: 501–508, Carole A. Samango-Sprouse, Teresa Sadeghin, Francine L Mitchell, Teresa Dixon, Emily Stapleton, Madison Kingery and Andrea L. Gropman

    Version of Record online : 23 JAN 2013, DOI: 10.1002/ajmg.a.35769

  9. Is it all the X: Familial learning dysfunction and the impact of behavioral aspects of the phenotypic presentation of XXY?

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 163, Issue 1, 15 February 2013, Pages: 27–34, Carole A. Samango-Sprouse, Emily Stapleton, Teresa Sadeghin and Andrea L. Gropman

    Version of Record online : 28 JAN 2013, DOI: 10.1002/ajmg.c.31353

  10. 47,XXY Klinefelter syndrome: Clinical characteristics and age-specific recommendations for medical management

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 163, Issue 1, 15 February 2013, Pages: 55–63, Lise Aksglaede, Katarina Link, Aleksander Giwercman, Niels Jørgensen, Niels E Skakkebæk and Anders Juul

    Version of Record online : 23 JAN 2013, DOI: 10.1002/ajmg.c.31349

  11. Prenatal diagnosis and 47,XXY

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 163, Issue 1, 15 February 2013, Pages: 64–70, Dr. Joe Leigh Simpson and Carole Samango-Sprouse

    Version of Record online : 28 JAN 2013, DOI: 10.1002/ajmg.c.31356

  12. You have free access to this content
    Klinefelter's syndrome (47,XXY) in male systemic lupus erythematosus patients: Support for the notion of a gene-dose effect from the X chromosome

    Arthritis & Rheumatism

    Volume 58, Issue 8, August 2008, Pages: 2511–2517, R. Hal Scofield, Gail R. Bruner, Bahram Namjou, Robert P. Kimberly, Rosalind Ramsey-Goldman, Michelle Petri, John D. Reveille, Graciela S. Alarcón, Luis M. Vilá, Jeff Reid, Bryan Harris, Shibo Li, Jennifer A. Kelly and John B. Harley

    Version of Record online : 30 JUL 2008, DOI: 10.1002/art.23701

  13. Report of 46,XX/46,XY/47,XXY/48,XXYY mosaicism in an adult phenotypic male

    American Journal of Medical Genetics

    Volume 111, Issue 2, 1 August 2002, Pages: 215–217, Lurdes Zamora, Blanca Espinet, Marta Salido, Francesc Solé, Cristina Ligorria and Lourdes Florensa

    Version of Record online : 29 MAY 2002, DOI: 10.1002/ajmg.10561

  14. Increased number of sex chromosomes affects height in a nonlinear fashion: A study of 305 patients with sex chromosome aneuploidy

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 5, May 2010, Pages: 1206–1212, Anne Marie Ottesen, Lise Aksglaede, Inger Garn, Nicole Tartaglia, Flora Tassone, Claus H. Gravholt, Anders Bojesen, Kaspar Sørensen, Niels Jørgensen, Ewa Rajpert-De Meyts, Tommy Gerdes, Anne-Marie Lind, Susanne Kjaergaard and Anders Juul

    Version of Record online : 13 APR 2010, DOI: 10.1002/ajmg.a.33334

  15. Behavioral phenotype of sex chromosome aneuploidies: 48,XXYY, 48,XXXY, and 49,XXXXY

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 11, 1 June 2007, Pages: 1198–1203, Jeannie Visootsak, Beth Rosner, Elisabeth Dykens, Nicole Tartaglia and John M. Graham Jr.

    Version of Record online : 11 MAY 2007, DOI: 10.1002/ajmg.a.31746

  16. Positive effects of early androgen therapy on the behavioral phenotype of boys with 47,XXY

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 169, Issue 2, June 2015, Pages: 150–157, Carole Samango-Sprouse, Emily J. Stapleton, Patrick Lawson, Francie Mitchell, Teresa Sadeghin, Sherida Powell and Andrea L. Gropman

    Version of Record online : 1 MAY 2015, DOI: 10.1002/ajmg.c.31437

  17. Expanding the phenotypic profile of boys with 47, XXY: The impact of familial learning disabilities

    American Journal of Medical Genetics Part A

    Volume 164, Issue 6, June 2014, Pages: 1464–1469, Carole A. Samango-Sprouse, Emily J. Stapleton, Francie L. Mitchell, Teresa Sadeghin, Thomas P. Donahue and Andrea L. Gropman

    Version of Record online : 8 APR 2014, DOI: 10.1002/ajmg.a.36483

  18. Mouse model for men with klinefelter syndrome: a multifaceted fit for a complex disorder

    Acta Paediatrica

    Volume 100, Issue 6, June 2011, Pages: 892–899, Ronald S Swerdloff, YanHe Lue, Peter Y Liu, Krista Erkkilä and Christina Wang

    Version of Record online : 14 FEB 2011, DOI: 10.1111/j.1651-2227.2011.02149.x

  19. Are Klinefelter boys hypogonadal?

    Acta Paediatrica

    Volume 100, Issue 6, June 2011, Pages: 830–838, Rodolfo A Rey, Silvia Gottlieb, Titania Pasqualini, María G Bastida, Romina P Grinspon, Stella M Campo and Ignacio Bergadá

    Version of Record online : 3 FEB 2011, DOI: 10.1111/j.1651-2227.2010.02137.x

  20. Klinefelter’s syndrome (47,XXY) among men with systemic lupus erythematosus

    Acta Paediatrica

    Volume 100, Issue 6, June 2011, Pages: 819–823, Skyler Dillon, Rachna Aggarwal, James W Harding, Liang-Jing Li, Michael H Weissman, Shibo Li, Joshua W Cavett, Sydney T Sevier, Joshua W Ojwang, Anil D’Souza, John B Harley and R Hal Scofield

    Version of Record online : 7 MAR 2011, DOI: 10.1111/j.1651-2227.2011.02185.x