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There are 7680160 results for: content related to: Unique mosaic X/Y translocation/insertion in infant 45,X male

  1. Prenatal diagnosis of a 45,X male with a SRY-bearing chromosome 21

    Prenatal Diagnosis

    Volume 22, Issue 8, August 2002, Pages: 675–680, V. Nataf, M. V. Senat, M. Albert, L. Bidat, P. de Mazancourt, J. Roume, L. Allard, D. Le Tessier, Y. Ville and J. Selva

    Version of Record online : 25 JUL 2002, DOI: 10.1002/pd.376

  2. A 45,X sterile male with Yp disguised as 21p

    American Journal of Medical Genetics

    Volume 111, Issue 2, 1 August 2002, Pages: 202–204, Ingrid P. Dávalos, Horacio Rivera, Ana I. Vásquez, Melva Gutiérrez-Angulo, Martha C. Hernández-Vázquez, Fidel A. Cortina-Luna, Luis E. Wong-Ley and María G. Domínguez-Quezada

    Version of Record online : 25 JUL 2002, DOI: 10.1002/ajmg.10536

  3. Phenotype/Karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases

    American Journal of Medical Genetics

    Volume 53, Issue 2, 1 November 1994, Pages: 108–140, Dr. Lillian Y. F. Hsu

    Version of Record online : 7 JUN 2005, DOI: 10.1002/ajmg.1320530204

  4. High functioning fragile X males: Demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression

    American Journal of Medical Genetics

    Volume 51, Issue 4, 15 July 1994, Pages: 298–308, Randi J. Hagerman, Claire E. Hull, John F. Safanda, Isabelle Carpenter, Louise W. Staley, Rebecca A. O'Connor, Charlotte Seydel, Michele M. M. Mazzocco, Karen Snow, Stephen N. Thibodeau, Derek Kuhl, David L. Nelson, C. Thomas Caskey and Annette K. Taylor

    Version of Record online : 7 JUN 2005, DOI: 10.1002/ajmg.1320510404

  5. Molecular-intelligence correlations in young fragile X males with a mild CGG repeat expansion in the FMR1 gene

    American Journal of Medical Genetics

    Volume 64, Issue 2, 9 August 1996, Pages: 274–277, Jean Steyaert, Martine Borghgraef, Eric Legius and Jean-Pierre Fryns

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19960809)64:2<274::AID-AJMG8>3.0.CO;2-U

  6. Longitudinal study of cognitive abilities and adaptive behavior levels in fragile X males: A prospective multicenter analysis

    American Journal of Medical Genetics

    Volume 64, Issue 2, 9 August 1996, Pages: 356–361, Gene S. Fisch, Richard Simensen, Jack Tarleton, Maryse Chalifoux, Jeanette J. A. Holden, Nancy Carpenter, Patricia N. Howard-Peebles and Anne Maddalena

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19960809)64:2<356::AID-AJMG24>3.0.CO;2-D

  7. Longitudinal assessment of adaptive and maladaptive behaviors in fragile X males: Growth, development, and profiles

    American Journal of Medical Genetics

    Volume 83, Issue 4, 2 April 1999, Pages: 257–263, Gene S. Fisch, Nancy J. Carpenter, Jeanette J.A. Holden, Richard Simensen, Patricia N. Howard-Peebles, Anne Maddalena, Arti Pandya and Walter Nance

    Version of Record online : 24 MAR 1999, DOI: 10.1002/(SICI)1096-8628(19990402)83:4<257::AID-AJMG5>3.0.CO;2-U

  8. α-thalassemia/mental retardation syndrome in a 45,X male

    American Journal of Medical Genetics Part A

    Volume 132A, Issue 4, 1 February 2005, Pages: 431–433, Richard Kellermayer, Márta Czakó, Zsuzsanna Kiss-László, Petra Gyuris, Adrienn Kozári, Béla Melegh and György Kosztolányi

    Version of Record online : 4 JAN 2005, DOI: 10.1002/ajmg.a.30499

  9. Folic acid treatment of fragile X males: A further study

    American Journal of Medical Genetics

    Volume 30, Issue 1-2, May - June 1988, Pages: 393–399, Gene S. Fisch, Ira L. Cohen, Anne C. Gross, Valerie Jenkins, Edmund C. Jenkins and W. T. Brown

    Version of Record online : 8 JUN 2005, DOI: 10.1002/ajmg.1320300139

  10. Is fragile X syndrome a pervasive developmental disability? Cognitive ability and adaptive behavior in males with the full mutation

    American Journal of Medical Genetics

    Volume 51, Issue 4, 15 July 1994, Pages: 346–352, Gene S. Fisch, Jeanette J. A. Holden, Richard Simensen, Nancy Carpenter, Patricia N. Howard-Peebles, Anne Maddalena, Alice Sandgrund, Jean-Robert Jacques and Barbara McGann

    Version of Record online : 7 JUN 2005, DOI: 10.1002/ajmg.1320510410

  11. What is associated with the fragile X syndrome?

    American Journal of Medical Genetics

    Volume 48, Issue 2, 15 July 1993, Pages: 112–121, Gene S. Fisch

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.1320480210

  12. Anthropometric comparison of mentally retarded males with and without the fragile X syndrome

    American Journal of Medical Genetics

    Volume 38, Issue 2-3, 1 February - 1 March 1991, Pages: 260–268, Merlin G. Butler, G. Andrew Allen, Judy L. Haynes, Dharmdeo N. Singh, Michael S. Watson and W. Roy Breg

    Version of Record online : 7 JUN 2005, DOI: 10.1002/ajmg.1320380220

  13. Effects of age and communication level on eye contact in fragile X males and non-fragile X autistic males

    American Journal of Medical Genetics

    Volume 38, Issue 2-3, 1 February - 1 March 1991, Pages: 498–502, Ira L. Cohen, Peter M. Vietze, Vicki Sudhalter, Edmund C. Jenkins and W. Ted Brown

    Version of Record online : 7 JUN 2005, DOI: 10.1002/ajmg.1320380271

  14. Y-derived sequences detected in a 45,X male by in situ hybridization

    American Journal of Medical Genetics

    Volume 27, Issue 4, August 1987, Pages: 831–839, Robert R. Sheehy, Michael G. Brown, Richard J. Warren, Mark Schwartzman, Dr. R. Ellen Magenis, John M. Opitz and James F. Reynolds

    Version of Record online : 9 JUN 2005, DOI: 10.1002/ajmg.1320270411

  15. Interstitial insertion of Y-specific DNA sequences including SRY into chromosome 4 in a 45,X male child

    American Journal of Medical Genetics

    Volume 72, Issue 2, 17 October 1997, Pages: 125–128, Aswani Yenamandra, Patricia Deangelo, Hana Aviv, Lorraine Suslak and Franklin Desposito

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19971017)72:2<125::AID-AJMG1>3.0.CO;2-U

  16. Relationship between age and IQ among fragile X males: A multicenter study

    American Journal of Medical Genetics

    Volume 38, Issue 2-3, 1 February - 1 March 1991, Pages: 481–487, Gene S. Fisch, Tadao Arinami, Ursula Froster-Iskenius, Jean-Pierre Fryns, L. M. Curfs, M. Borghgraef, Patricia N. Howard-Peebles, Charles E. Schwartz, Richard J. Simensen and Lawrence R. Shapiro

    Version of Record online : 7 JUN 2005, DOI: 10.1002/ajmg.1320380268

  17. The phenotype of a 45, X male with a Y/18 translocation

    Clinical Genetics

    Volume 49, Issue 1, January 1996, Pages: 37–41, Giorgio Gimelli, Roberta Cinti, Paolo Varone, Arturo Naselli, Eliana Di Battista and Annalisa Pezzolo

    Version of Record online : 23 APR 2008, DOI: 10.1111/j.1399-0004.1996.tb04322.x

  18. Adaptive behavior in the fragile X syndrome: Profile and development

    American Journal of Medical Genetics

    Volume 47, Issue 2, 15 August 1993, Pages: 216–220, A. M. Wiegers, L. M. G. Curfs, E. L. M. H. Vermeer and J. P. Fryns

    Version of Record online : 7 JUN 2005, DOI: 10.1002/ajmg.1320470215

  19. Behavioral phenotype of fragile X syndrome: DSM-III-R autistic behavior in male children

    American Journal of Medical Genetics

    Volume 43, Issue 1-2, 15 April - 1 May 1992, Pages: 35–46, Allan L. Reiss and Lisa Freund

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.1320430106

  20. Two cases of Y; autosome translocations: A 45, X male and a clinically trisomy 18 patient

    American Journal of Medical Genetics

    Volume 49, Issue 4, 15 February 1994, Pages: 388–392, Solange B. Farah, Clarisa F. Ramos, Maricilda P. de Mello, Edi L. Sartorato, Nina Horelli-Kuitunen, Vera L. G. S. Lopes, Denise P. Cavalcanti and Christine Hackel

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.1320490407