American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

Special Issue: X-Linked Mental Retardation—6

15 July 1994

Volume 51, Issue 4

Pages fmi–fmi, 281–622

Currently known as: American Journal of Medical Genetics Part A

  1. Masthead

    1. Top of page
    2. Masthead
    3. Conference Report
    4. Articles
    5. Letters to the Editor
    6. Articles
    7. Commentary
    8. Articles
    9. Letters to the Editor
    10. Articles
    11. Letters to the Editor
    12. Articles
    13. Letters to the Editor
    14. Historical Note
    15. Articles
    16. Miscellaneous
    17. Books Received
    1. You have free access to this content
      Masthead (page fmi)

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510401

  2. Conference Report

    1. Top of page
    2. Masthead
    3. Conference Report
    4. Articles
    5. Letters to the Editor
    6. Articles
    7. Commentary
    8. Articles
    9. Letters to the Editor
    10. Articles
    11. Letters to the Editor
    12. Articles
    13. Letters to the Editor
    14. Historical Note
    15. Articles
    16. Miscellaneous
    17. Books Received
    1. Sixth international workshop on the fragile X and X-linked mental retardation (pages 281–293)

      Grant R. Sutherland, W. Ted Brown, Randi Hagerman, Ed Jenkins, Herbert Lubs, Jean-Louis Mandel, David Nelson, Giovanni Neri, Michael W. Partington, Robert I. Richards, Roger Stevenson and Gillian Turner

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510402

  3. Articles

    1. Top of page
    2. Masthead
    3. Conference Report
    4. Articles
    5. Letters to the Editor
    6. Articles
    7. Commentary
    8. Articles
    9. Letters to the Editor
    10. Articles
    11. Letters to the Editor
    12. Articles
    13. Letters to the Editor
    14. Historical Note
    15. Articles
    16. Miscellaneous
    17. Books Received
    1. Fragile X phenotype in a patient with a large de novo deletion in Xq27-q28 (pages 294–297)

      Susan G. Albright, Ave M. Lachiewicz, Jack C. Tarleton, Kathleen W. Rao, Charles E. Schwartz, Renee Richie, Michael B. Tennison and Arthur S. Aylsworth

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510403

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

    3. No apparent involvement of the FMR1 gene in five patients with phenotypic manifestations of the fragile X syndrome (pages 309–314)

      Pietro Chiurazzi, Esther de Graaff, Jessica Ng, Annemieke J. M. H. Verkerk, Sloan Wolfson, Gene S. Fisch, Libor Kozak, Giovanni Neri and Ben A. Oostra

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510405

  4. Letters to the Editor

    1. Top of page
    2. Masthead
    3. Conference Report
    4. Articles
    5. Letters to the Editor
    6. Articles
    7. Commentary
    8. Articles
    9. Letters to the Editor
    10. Articles
    11. Letters to the Editor
    12. Articles
    13. Letters to the Editor
    14. Historical Note
    15. Articles
    16. Miscellaneous
    17. Books Received
  5. Articles

    1. Top of page
    2. Masthead
    3. Conference Report
    4. Articles
    5. Letters to the Editor
    6. Articles
    7. Commentary
    8. Articles
    9. Letters to the Editor
    10. Articles
    11. Letters to the Editor
    12. Articles
    13. Letters to the Editor
    14. Historical Note
    15. Articles
    16. Miscellaneous
    17. Books Received
    1. Molecular-neurobehavioral associations in females with the fragile X full mutation (pages 317–327)

      Michael T. Abrams, Allan L. Reiss, Lisa S. Freund, Thomas L. Baumgardner, Gary A. Chase and Martha B. Denckla

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510407

    2. Reliability of diagnostic assessment of normal and premutation status in the fragile X syndrome using DNA testing (pages 339–345)

      Gene S. Fisch, David L. Nelson, Karen Snow, Stephen N. Thibodeau, Maryse Chalifoux and Jeanette J. A. Holden

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510409

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

    4. Longitudinal changes in IQ among fragile X females: A preliminary multicenter analysis (pages 353–357)

      Gene S. Fisch, Richard Simensen, Tadao Arinami, Martine Borghgraef and Jean-Pierre Fryns

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510411

  6. Commentary

    1. Top of page
    2. Masthead
    3. Conference Report
    4. Articles
    5. Letters to the Editor
    6. Articles
    7. Commentary
    8. Articles
    9. Letters to the Editor
    10. Articles
    11. Letters to the Editor
    12. Articles
    13. Letters to the Editor
    14. Historical Note
    15. Articles
    16. Miscellaneous
    17. Books Received
  7. Articles

    1. Top of page
    2. Masthead
    3. Conference Report
    4. Articles
    5. Letters to the Editor
    6. Articles
    7. Commentary
    8. Articles
    9. Letters to the Editor
    10. Articles
    11. Letters to the Editor
    12. Articles
    13. Letters to the Editor
    14. Historical Note
    15. Articles
    16. Miscellaneous
    17. Books Received
    1. Personality profile in adult female fragile X carriers: Assessed with the Minnesota Multiphasic Personality Profile (MMPI) (pages 370–373)

      Jean Steyaert, Marleen Decruyenaere, Martine Borghgraef and Jean-Pierre Fryns

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510414

    2. Emotional and neurocognitive deficits in fragile X (pages 378–385)

      William E. Sobesky, Bruce F. Pennington, Deborah Porter, Claire E. Hull and Randi J. Hagerman

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510416

    3. Behavioural and emotional disturbance in fragile X syndrome (pages 386–391)

      Stewart L. Einfeld, Bruce J. Tonge and Tony Florio

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510417

    4. Transmitting males and carrier females in fragile X–revisited (pages 392–399)

      Dr. Danuta Z. Loesch, David A. Hay and John Mulley

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510418

    5. Obstetrical and gynecological complications in fragile X carriers: A multicenter study (pages 400–402)

      C. E. Schwartz, J. Dean, P. N. Howard-Peebles, M. Bugge, M. Mikkelsen, N. Tommerup, C. Hull, R. Hagerman, J. J. A. Holden and R. E. Stevenson

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510419

  8. Letters to the Editor

    1. Top of page
    2. Masthead
    3. Conference Report
    4. Articles
    5. Letters to the Editor
    6. Articles
    7. Commentary
    8. Articles
    9. Letters to the Editor
    10. Articles
    11. Letters to the Editor
    12. Articles
    13. Letters to the Editor
    14. Historical Note
    15. Articles
    16. Miscellaneous
    17. Books Received
  9. Articles

    1. Top of page
    2. Masthead
    3. Conference Report
    4. Articles
    5. Letters to the Editor
    6. Articles
    7. Commentary
    8. Articles
    9. Letters to the Editor
    10. Articles
    11. Letters to the Editor
    12. Articles
    13. Letters to the Editor
    14. Historical Note
    15. Articles
    16. Miscellaneous
    17. Books Received
    1. Fragile X founder chromosome effects: Linkage disequilibrium or microsatellite heterogeneity? (pages 405–411)

      Nan Zhong, Lingling Ye, Carl Dobkin and W. Ted Brown

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510421

    2. Haplotype analysis at the FRAXA locus in the Japanese population (pages 412–416)

      Robert I. Richards, Ikuko Kondo, Kathy Holman, Masatake Yamauchi, Naohiko Seki, Kunikazu Kishi, Alan Staples, Grant R. Sutherland and Dr. Tada-Aki Hori

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510422

    3. Distribution of FMR-1 and associated microsatellite alleles in a normal Chinese population (pages 417–422)

      Nan Zhong, Xixian Liu, Shen Gou, George E. Houck Jr., Shuyun Li, Carl Dobkin and W. Ted Brown

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510423

    4. Prevalence of fra(X) in the county of Funen in Denmark is lower than expected (pages 423–427)

      L. Tranebjaerg, S. Hilling, J. Jessen, D. Lind and M. S. Hansen

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510424

    5. Fragile X induction systems in CVS cultures: Effect on cytogenetic, PCR, and genomic southern blot DNA analyses of the FMR-1 gene (pages 436–442)

      Edmund C. Jenkins, Iwana Morys, Jeanine Henderson, Marilyn Genovese, Mary Carter, Shu-Yun Li, George E. Houck Jr, Xiaohua Ding, Sandra L. Stark-Houck, Carl S. Dobkin and W. Ted Brown

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510426

    6. Relationship of expansion of CGG repeats and X-inactivation with expression of fra(X) (q27.3) in heterozygotes (pages 443–446)

      Regina C. Mingroni-Netto, J. G. Fernandes and Angela M. Vianna-Morgante

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510427

  10. Letters to the Editor

    1. Top of page
    2. Masthead
    3. Conference Report
    4. Articles
    5. Letters to the Editor
    6. Articles
    7. Commentary
    8. Articles
    9. Letters to the Editor
    10. Articles
    11. Letters to the Editor
    12. Articles
    13. Letters to the Editor
    14. Historical Note
    15. Articles
    16. Miscellaneous
    17. Books Received
    1. X inactivation pattern in interstitial deletions of the fragile X region (page 451)

      Malgorzata Schmidt, Anne Robertson and Marjorie Crawford

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510429

    2. Occurrence of aneuploidy for the X chromosome in over 1,300 unrelated specimens screened for the fragile X chromosome (pages 452–453)

      Edmund C. Jenkins, Marilyn Genovese, Charlotte J. Duncan, Hong Gu, Sandra Stark-Houck, Shu-Yun Li, Jeanine Henderson, Iwana Morys and W. Ted Brown

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510430

  11. Articles

    1. Top of page
    2. Masthead
    3. Conference Report
    4. Articles
    5. Letters to the Editor
    6. Articles
    7. Commentary
    8. Articles
    9. Letters to the Editor
    10. Articles
    11. Letters to the Editor
    12. Articles
    13. Letters to the Editor
    14. Historical Note
    15. Articles
    16. Miscellaneous
    17. Books Received
    1. Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region (pages 454–457)

      Yvon Trottier, Georges Imbert, Annemarie Poustka, Jean-Pierre Fryns and Jean-Louis Mandel

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510431

    2. Fragile-X syndrome in east Finland: Molecular approach to genetic and prenatal diagnosis (pages 463–465)

      Markku Ryynänen, Leena Pulkkinen, Pertti Kirkinen and Seppo Saarikoski

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510433

    3. Strategy for reliable prenatal detection of normal male carriers of the fragile X syndrome (pages 471–473)

      Dicky Halley, Ans Van Den Ouweland, Wout Deelen, Ishwar Verma and Ben Oostra

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510435

    4. Evaluation of school children at high risk for fragile X syndrome utilizing buccal cell FMR-1 testing (pages 474–481)

      Randi J. Hagerman, Philip Wilson, Louise W. Staley, Kirsten A. Lang, Tammi Fan, Cynthia Uhlhorn, Sabrina Jewell-Smart, Claire Hull, Jodi Drisko, Kerry Flom and Annette K. Taylor

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510436

    5. DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene (pages 482–485)

      Dr. Ans M. W. van den Ouweland, Bert B. A. de Vries, P. Lida G. Bakker, Wout H. Deelen, Esther de Graaff, Jan O. van Hemel, Ben A. Oostra, Martinus F. Niermeijer and Dicky J. J. Halley

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510437

    6. Fraxa locus in fragile X diagnosis: Family studies, prenatal diagnosis, and diagnosis of sporadic cases of mental retardation (pages 486–489)

      Harriet von Koskull, Nina Gahmberg, Riitta Salonen, Armi Salo and Maarit Peippo

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510438

    7. Prenatal diagnosis in known fragile X carriers (pages 490–496)

      Anne Maddalena, Belynda D. Hicks, W. Christine Spence, Gene Levinson and Patricia N. Howard-Peebles

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510439

    8. Prediction of mental status in carriers of the fragile X mutation using CGG repeat length (pages 497–500)

      Arie Smits, Dominique Smeets, Ben Hamel, Jos Dreesen, Anton de Haan and Bernard van Oost

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510440

    9. Direct mutation analysis of 495 patients for fragile X carrier status/proband diagnosis (pages 501–502)

      Gail Kaplan, Melissa Kung, Melody McClure and Amy Cronister

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510441

    10. Characteristics of the transmission of the FMR1 gene from carrier females in a prospective sample of conceptuses (pages 503–506)

      S. L. Sherman, A. Maddalena, P. N. Howard-Peebles, W. T. Brown, S. Nolin, E. Jenkins, C. Schwartz, J. Tarrelton, L. R. Shapiro, A. P. T. Smits, B. A. van Oost, S. Youings, P. A. Jacobs, F. Martinez, A. Barnicoat, A. Hockey, L. Staley, R. Hagerman, I. Kennerknecht, P. Steinbach, G. Barbi, G. Filippi, M. Grasso, S. A. M. Taylor, H. Robinson, T. Webb, D. Broome, J. Dixon, P. Ferreira, K.-H. Gustavson, J. L. Meyer and G. S. Pai

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510442

    11. Asymmetry of methylation with FMR-1 full mutation in two 45,X/46,XX mosaic females associated with normal intellect (pages 507–508)

      Lawrence R. Shapiro, Richard J. Simensen, Patrick L. Wilmot, Gene S. Fisch, Betsy K. Vibert, Raymond G. Fenwick, Jack Tarleton and Mary Catherine Phelan

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510443

    12. Mosaicism in fragile X affected males (pages 509–512)

      Sarah L. Nolin, Anne Glicksman, George E. Houck Jr., W. Ted Brown and Carl S. Dobkin

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510444

    13. Conservation of CGG region in FMR1 gene in mammals (pages 513–516)

      Wout Deelen, Cathy Bakker, Dicky J. J. Halley and Dr. Ben A. Oostra

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510445

    14. Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymerase (pages 522–526)

      Samuel S. Chong, Evan E. Eichler, David L. Nelson and Mark R. Hughes

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510447

    15. Improved sizing of fragile X CCG repeats by nested polymerase chain reaction (pages 527–534)

      Dr. Gene Levinson, Anne Maddalena, Frances T. Palmer, Gary L. Harton, David P. Bick, Patricia N. Howard-Peebles, Susan H. Black and Joseph D. Schulman

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510448

  12. Letters to the Editor

    1. Top of page
    2. Masthead
    3. Conference Report
    4. Articles
    5. Letters to the Editor
    6. Articles
    7. Commentary
    8. Articles
    9. Letters to the Editor
    10. Articles
    11. Letters to the Editor
    12. Articles
    13. Letters to the Editor
    14. Historical Note
    15. Articles
    16. Miscellaneous
    17. Books Received
    1. Recombination of DXS548 (RS46) with the FRAXA locus (pages 535–537)

      Jos C. F. M. Dreesen, Arie P. T. Smits and Bernard A. van Oost

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510449

  13. Historical Note

    1. Top of page
    2. Masthead
    3. Conference Report
    4. Articles
    5. Letters to the Editor
    6. Articles
    7. Commentary
    8. Articles
    9. Letters to the Editor
    10. Articles
    11. Letters to the Editor
    12. Articles
    13. Letters to the Editor
    14. Historical Note
    15. Articles
    16. Miscellaneous
    17. Books Received
    1. X-linked mental retardation: The early era from 1943 to 1969 (pages 538–541)

      Roger E. Stevenson, Charles E. Schwartz, J. Fernando Arena and Herbert A. Lubs

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510450

  14. Articles

    1. Top of page
    2. Masthead
    3. Conference Report
    4. Articles
    5. Letters to the Editor
    6. Articles
    7. Commentary
    8. Articles
    9. Letters to the Editor
    10. Articles
    11. Letters to the Editor
    12. Articles
    13. Letters to the Editor
    14. Historical Note
    15. Articles
    16. Miscellaneous
    17. Books Received
    1. XLMR genes: Update 1994 (pages 542–549)

      Giovanni Neri, Pietro Chiurazzi, J. Fernando Arena and Herbert A. Lubs

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510451

    2. Pericentromeric genes for non-specific X-linked mental retardation (MRX) (pages 553–564)

      Agi Gedeon, Bronwyn Kerr, John Mulley and Gillian Turner

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510453

    3. X-linked mental retardation with dystonic movements of the hands (PRTS): Revisited (pages 565–568)

      Ms. Agi Gedeon, Michael Partington and John Mulley

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510454

    4. Non-specific X-linked mental retardation: Linkage analysis in MRX2 and MRX4 families revisited (pages 569–574)

      Ling-Jia Hu, Sandra Blumenfeld-Heyberger, André Hanauer, Jean Weissenbach and Jean-Louis Mandel

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510455

    5. Regional localisation of a non-specific X-linked mental retardation gene (MRX19) to Xp22 (pages 581–585)

      Andrew J. Donnelly, K. H. Andy Choo, Helen M. Kozman, Agi K. Gedeon, David M. Danks and John C. Mulley

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510457

    6. New X-linked mental retardation (XLMR) syndrome with distinct facial appearance and growth retardation (pages 586–590)

      Susan Sklower Brooks, Krystyna Wisniewski and W. Ted Brown

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510458

    7. X-linked mental retardation, microcephaly, and growth delay associated with hereditary bullous dystrophy macular type: Report of a second family (pages 598–601)

      M. Serena Lungarotti, Cecilia Martello, Giancarlo Barboni, Daniele Mezzetti, Giacomo Mariotti and Anna Calabro

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510460

    8. Is Rett syndrome a chromosome breakage syndrome? (pages 602–605)

      Dr. Louise Telvi, Marion Leboyer, Catherine Chiron, Josué Feingold and Gérard Ponsot

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320510461

  15. Miscellaneous

    1. Top of page
    2. Masthead
    3. Conference Report
    4. Articles
    5. Letters to the Editor
    6. Articles
    7. Commentary
    8. Articles
    9. Letters to the Editor
    10. Articles
    11. Letters to the Editor
    12. Articles
    13. Letters to the Editor
    14. Historical Note
    15. Articles
    16. Miscellaneous
    17. Books Received
  16. Books Received

    1. Top of page
    2. Masthead
    3. Conference Report
    4. Articles
    5. Letters to the Editor
    6. Articles
    7. Commentary
    8. Articles
    9. Letters to the Editor
    10. Articles
    11. Letters to the Editor
    12. Articles
    13. Letters to the Editor
    14. Historical Note
    15. Articles
    16. Miscellaneous
    17. Books Received
    1. Books received (page 622)

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320510463

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