American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

1 March 1993

Volume 45, Issue 5

Pages fmi–fmi, 539–669

Currently known as: American Journal of Medical Genetics Part A

  1. Masthead

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Book Review
    1. You have free access to this content
      Masthead (page fmi)

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450501

  2. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Book Review
    1. Kallmann syndrome associated with complex chromosome rearrangement (pages 539–541)

      Dr. Anthony C. Casamassima, Patrick L. Wilmot, Betsy K. Vibert and Lawrence R. Shapiro

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450502

    2. Joubert syndrome associated with Leber amaurosis and multicystic kidneys (pages 542–547)

      Sten-A. Ivarsson, Ingrid Bjerre, Arne Brun, Otto Ljungberg, Eva Maly and Ingrid Taylor

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320450503

    3. Hearing loss and temporal bone structure in achondroplasia (pages 548–551)

      Mordechai Shohat, Eugene Flaum, Steven R. Cobb, Ralph Lachman, Cathi Rubin, Carol Ash and Dr. David L. Rimoin

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450504

    4. Pleiotropy in Coffin-Lowry syndrome: Sensorineural hearing deficit and premature tooth loss as early manifestations (pages 552–557)

      James K. Hartsfield Jr., Bryan D. Hall, Arthur W. Grix, Boris G. Kousseff, Jose F. Salazar and Scott M. W. Haufe

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450505

    5. New epiphyseal stippling syndrome with osteoclastic hyperplasia (pages 558–561)

      Mordechai Shohat, Dr. David L. Rimoin, Helen E. Gruber and Ralph Lachman

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450506

  3. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Book Review
    1. Fryns syndrome (pages 562–564)

      Dr. Robert F. Stratton, Robert S. Young, Howard S. Heiman and Jan M. Carter

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450507

  4. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Book Review
    1. Association between alleles of the transforming growth factor-alpha locus and the occurrence of cleft lip (pages 565–569)

      Russell Sassani, Scott P. Bartlett, Hongshu Feng, Audrey Goldner-Sauve, Asifa K. Haq, Kenneth H. Buetow and David L. Gasser

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450508

    2. Common fragile site expression in lymphocytes from an individual mosaic for trisomy 8 (pages 570–571)

      M. J. Finley Austin, Michael C. Neale, Linda A. Corey, Walter E. Nance, Richard M. Schieken and Judith A. Brown

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450509

    3. Symptomatic and asymptomatic methylenetetrahydrofolate reductase deficiency in two adult brothers (pages 572–576)

      Dr. J. C. Haworth, L. A. Dilling, R. A. H. Surtees, L. E. Seargeant, H. Lue-Shing, B. A. Cooper and D. S. Rosenblatt

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450510

    4. Inversion (X)(p11.4q22) associated with Norrie disease in a four generation family (pages 577–580)

      Mark J. Pettenati, P. Nagesh Rao, R. Grey Weaver Jr, I. Tal Thomas and Mary Ruth McMahan

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450511

    5. Familial interstitial deletion 11(p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardation (pages 581–583)

      Lisa G. Shaffer, Jacqueline T. Hecht, David H. Ledbetter and Dr. Frank Greenberg

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450512

    6. Age-associated chromosome 21 loss in Down syndrome: Possible relevance to mosaicism and Alzheimer disease (pages 584–588)

      Maire E. Percy, Vjerica D. Markovic, Arthur J. Dalton, Donald R. C. McLachlan, Joseph M. Berg, Ann C. M. Rusk, Martin J. Somerville, Barbara Chodakowski and David F. Andrews

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450513

    7. 46,XY/47,XYY male with the fragile X syndrome: Cytogenetic and molecular studies (pages 589–593)

      Aubrey Milunsky, Xinli Huang, Jean A. Amos, Joel Herskowitz, Lindsay A. Farrer and Herman E. Wyandt

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450514

    8. Aicardi syndrome, metastatic angiosarcoma of the leg, and scalp lipoma (pages 594–596)

      Chang Y. Tsao, Dr. Annemarie Sommer and Ala B. Hamoudi

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450515

    9. Premature aging and immunodeficiency: Mulvihill-Smith syndrome? (pages 597–600)

      Hirofumi Ohashi, Masato Tsukahara, Ichiro Murano, Kyoko Fujita, Shinya Matsuura, Yoshimitsu Fukushima and Tadashi Kajii

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450516

    10. Autosomal dominant multiple café-au-lait spots and neurofibromatosis-1: Evidence of non-linkage (pages 606–608)

      Dr. Joel Charrow, Robert Listernick and Kenneth Ward

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450518

    11. Duplication 9q34[RIGHTWARDS ARROW]qter identified by chromosome painting (pages 609–613)

      Nancy B. Spinner, Joe N. Lucas, Marilyn Poggensee, Mary Jacquette and Adele Schneider

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320450519

    12. Identical twins with Weissenbacher-Zweymüller syndrome and neural tube defect (pages 614–618)

      Dr. J. C. Ramer, K. Eggli, P. K. Rogan and R. L. Ladda

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450520

    13. Varying neurological phenotypes among mut° and mut− patients with methylmalonylCoA mutase deficiency (pages 619–624)

      Michael I. Shevell, Nora Matiaszuk, Fred D. Ledley and David S. Rosenblatt

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320450521

    14. Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome (pages 625–630)

      S. B. Freeman, K. M. May, D. Pettay, P. M. Fernhoff and T. J. Hassold

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450522

    15. Complications in the genotypic molecular diagnosis of pseudo arylsulfatase A deficiency (pages 631–637)

      Ning Shen, Zhen-Guo Li, John S. Waye, Gordon Francis and Dr. Patricia L. Chang

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450523

  5. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Book Review
    1. Interstitial deletion of 8q13.3[RIGHTWARDS ARROW] 22.1 associated with craniosynostosis (pages 638–641)

      Dr. Julie S. Fryburg and Wendy L. Golden

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320450524

  6. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Book Review
    1. New X-linked syndrome with severe mental retardation, severely impaired vision, severe hearing defect, epileptic seizures, spasticity, restricted joint mobility, and early death (pages 654–658)

      Karl-Henrik Gustavson, Göran Annerén, Helena Malmgren, Niklas Dahl, Carl-Gustaf Ljunggren and Hans Bäckman

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450527

    2. Severe limb abnormalities: Analysis of a cluster of five cases born during a period of 45 days (pages 659–667)

      J. N. van den Anker, E. E. van Vught, G. R. J. Zandwijken, T. E. Cohen-Overbeek and D. Lindhout

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450528

  7. Book Review

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Book Review

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