American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

1 August 1992

Volume 43, Issue 6

Pages fmi–fmi, 913–1062

Currently known as: American Journal of Medical Genetics Part A

  1. Masthead

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Letter to the Editors
    9. Articles
    10. Article
    1. Masthead (page fmi)

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320430601

  2. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Letter to the Editors
    9. Articles
    10. Article
    1. Oculoauriculovertebral anomaly: Segregation analysis (pages 913–917)

      Celia I. Kaye, Alice O. Martin, Beverly R. Rollnick, R. Rollnick, Konrad Nagatoshi, Jeannette Israel, Mark Hermanoff, Brad Tropea, Joan T. Richtsmeier and Newton E. Morton

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320430602

    2. CNS midline anomalies in the opitz G/BBB syndrome: Report on 12 Brazilian patients (pages 918–928)

      M. L. Guion-Almeida and A. Richieri-Costa

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320430603

  3. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Letter to the Editors
    9. Articles
    10. Article
    1. Callosal agenesis, iris coloboma, and megacolon in a Brazilian boy with Rubinstein-Taybi syndrome (pages 929–931)

      M. L. Guion-Almeida and A. Richieri-Costa

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320430604

  4. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Letter to the Editors
    9. Articles
    10. Article
  5. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Letter to the Editors
    9. Articles
    10. Article
    1. Acrocallosal syndrome: Report of a Brazilian girl (pages 938–941)

      M. L. Guion-Almeida and A. Richieri-Costa

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320430606

  6. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Letter to the Editors
    9. Articles
    10. Article
    1. Unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance in sibs: A new syndrome (pages 942–945)

      Dr. Vazken M. Der Kaloustian, Nathalie McIntosh, Kenneth Silver, Shirley Blaichman and Fahed Halal

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320430607

    2. Ophthalmological, skeletal, and cardiac abnormalities in sibs born to consanguineous parents: A new syndrome? (pages 946–948)

      Rita de Cassia Stocco dos Santos, Nelson H. C. Castro, Oilita Pereira Ferraz, Janete Walter-Moura, Zan Mustachi, Nina A. B. Pagnan and Thomaz R. Gollop

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320430608

    3. Overlap between Majewski and Hydrolethalus syndromes: A report of two cases (pages 949–953)

      Dr. Anita K. Sharma, Shubha Phadke, Kartika Chandra, Mamta Upreti, E. M. Khan, M. Naveed and S. S. Agarwal

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320430609

    4. King syndrome: A genetically heterogenous phenotype due to congenital myopathies (pages 954–956)

      David Chitayat, Kathy A. Hodgkinson, Ophira Ginsburg, James Dimmick and Gordon V. Watters

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320430610

    5. Parental origin determination in thirty de novo Robertsonian translocations (pages 957–963)

      Dr. Lisa G. Shaffer, Colleen K. Jackson-Cook, Beth A. Stasiowski, J. Edward Spence and Judith A. Brown

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320430611

    6. Clinical variability and genetic heterogeneity within the Acadian Usher population (pages 964–969)

      Richard J. H. Smith, Mary Z. Pelias, Stephen P. Daiger, Bronya Keats, William Kimberling and J. Fielding Hejtmancik

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320430612

    7. Branchio-Oto-Renal syndrome: Further delineation of an underdiagnosed syndrome (pages 970–975)

      David Chitayat, Kathy A. Hodgkinson, Moy-Fong Chen, George D. Haber, Shigeto Nakishima and Isamu Sando

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320430613

    8. Diagnosis of arylsulfatase A deficiency (pages 976–982)

      Z. G. Li, J. S. Waye and Dr. P. L. Chang

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320430614

    9. New autosomal recessive syndrome of sparse hair, osteopenia, and mental retardation in Mennonite sisters (pages 983–988)

      Stephen G. Kaler, Ann M. Garrity, Harvey J. Stern, Kenneth N. Rosenbaum, Bonnie M. Orrison, Joan C. Marini, Isa Bernardini and Howard M. Saal

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320430615

    10. Weissenbacher-Zweymüller syndrome: A distinct autosomal recessive skeletal dysplasia (pages 989–995)

      Juan Chemke, Rivka Carmi, Aharon Galil, Yaakov Bar-Ziv, Ilan Ben-Ytzhak and Loretta Zurkowski

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320430616

    11. Ullrich-Turner syndrome with a small ring X chromosome and presence of mental retardation (pages 996–1005)

      Daniel L. Van Dyke, Anne Wiktor, Catherine G. Paliner, Dorothy A. Miller, Michal Witt, V. Ramesh Babu, Maria J. Worsham, Jacquelyn R. Roberson and Lester Weiss

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320430617

    12. Five years experience of predictive testing for myotonic dystrophy using linked DNA markers (pages 1006–1011)

      Dr. W. Reardon, J. L. Floyd, J. Myring, L. P. Lazarou, A. L. Meredith and P. S. Harper

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320430618

    13. X inactivation and dystrophin studies in a t(X;12) female: Evidence for biochemical normalization in Duchenne muscular dystrophy carriers (pages 1012–1015)

      Sharon L. Wenger, Mark W. Steele, Eric P. Hoffman, Mamdouha A. Barmada and Henry B. Wessel

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320430619

    14. Risk of hepatoblastoma in familial adenomatous polyposis (pages 1023–1025)

      Linda J. Hughes and Dr. Virginia V. Michels

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320430621

    15. Microcephaly, lymphedema, and chorioretinal dysplasia: A distinct syndrome? (pages 1030–1031)

      Murray Feingold and Louis Bartoshesky

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320430623

    16. VACTERL with hydrocephalus: One end of the Fanconi anemia spectrum of anomalies? (pages 1032–1034)

      M. E. M. Porteous, I. Cross and J. Burn

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320430624

    17. VACTERL or MURCS association in a girl with neurenteric cyst and identical thoracic malformations in the father: A case of gonosomal mosaicism? (pages 1035–1038)

      Karen Helene Örstavik, Jon Steen-Johnsen, Arnold Foerster, Tore Fjeld, Kari Skullerud and Sverre O. Lie

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320430625

  7. Letter to the Editors

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Letter to the Editors
    9. Articles
    10. Article
    1. Ring chromosome 7, hyperpigmented skin lesions and malignant melanoma (pages 1039–1040)

      Dr. C. D. Delozier-Blanchet, I. Masouyé and S. Vollenweider

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320430626

    2. Fetal hypokinesia sequence caused by maternal autoimmune disorder? (pages 1047–1048)

      Raoul C. M. Hennekam, J. J. Rotteveel and Judith G. Hall

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320430630

    3. Applications of the concept of attributable fraction in medical genetics (page 1049)

      Dr. Steven S. Coughlin

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320430631

  8. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Letter to the Editors
    9. Articles
    10. Article
    1. Tightly linked polymorphic markers for fragile X syndrome and prenatal cytogenetic diagnostic experience (pages 1050–1056)

      Dr. IA Glass, RG Del Mastro, WG Lanyon, JA Raeburn, MW Kilpatrick, Tp Webb and JM Connor

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320430632

  9. Article

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Letter to the Editors
    9. Articles
    10. Article

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