Search Results

There are 9249 results for: content related to: Prenatal diagnosis and 47,XXY

  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. Timing of diagnosis of 47,XXY and 48,XXYY: A survey of parent experiences

    American Journal of Medical Genetics Part A

    Volume 161, Issue 2, February 2013, Pages: 268–272, Jeannie Visootsak, Natalie Ayari, Susan Howell, Joash Lazarus and Nicole Tartaglia

    Version of Record online : 15 JAN 2013, DOI: 10.1002/ajmg.a.35709

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. Low semen volume in 47 adolescents and adults with 47,XXY Klinefelter or 46,XX male syndrome

    International Journal of Andrology

    Volume 32, Issue 4, August 2009, Pages: 376–384, L. Aksglaede, N. Jørgensen, N. E. Skakkebæk and A. Juul

    Version of Record online : 21 OCT 2008, DOI: 10.1111/j.1365-2605.2008.00921.x

  14. 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

  15. Serum concentrations of Anti-Müllerian Hormone (AMH) in 95 patients with Klinefelter syndrome with or without cryptorchidism

    Acta Paediatrica

    Volume 100, Issue 6, June 2011, Pages: 839–845, Lise Aksglaede, Peter Christiansen, Kaspar Sørensen, Malene Boas, Allan Linneberg, Katharina M Main, Anna-Maria Andersson, Niels E Skakkebæk and Anders Juul

    Version of Record online : 25 FEB 2011, DOI: 10.1111/j.1651-2227.2011.02148.x

  16. You have free access to this content
    Methylation-Specific PCR Allows for Fast Diagnosis of X Chromosome Disomy and Reveals Skewed Inactivation of the X Chromosome in Men With Klinefelter Syndrome

    Journal of Andrology

    Volume 33, Issue 5, September-October 2012, Pages: 955–962, Akanksha Mehta, Matthew Malek-Jones, Alexander Bolyakov, Anna Mielnik, Peter N. Schlegel and Darius A. Paduch

    Version of Record online : 2 JAN 2013, DOI: 10.2164/jandrol.111.016030

  17. 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

  18. 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

  19. 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

  20. SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy

    Prenatal Diagnosis

    Volume 33, Issue 7, July 2013, Pages: 643–649, Carole Samango-Sprouse, Milena Banjevic, Allison Ryan, Styrmir Sigurjonsson, Bernhard Zimmermann, Matthew Hill, Megan P. Hall, Margaret Westemeyer, Jennifer Saucier, Zachary Demko and Matthew Rabinowitz

    Version of Record online : 20 JUN 2013, DOI: 10.1002/pd.4159