American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

July 1989

Volume 33, Issue 3

Pages fmi–fmi, 289–430

Currently known as: American Journal of Medical Genetics Part A

  1. Masthead

    1. Top of page
    2. Masthead
    3. Obituary
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. New Syndrome
    8. Articles
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Report of a Case
    14. Letter to the Editor
    15. Rapid Publication
    1. You have free access to this content
      Masthead (page fmi)

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320330301

  2. Obituary

    1. Top of page
    2. Masthead
    3. Obituary
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. New Syndrome
    8. Articles
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Report of a Case
    14. Letter to the Editor
    15. Rapid Publication
    1. Theo Hustinx (page 289)

      R. D. F. M. Taalman, C. M. R. Weemaes and D. F. C. M. Smeets

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330302

  3. Articles

    1. Top of page
    2. Masthead
    3. Obituary
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. New Syndrome
    8. Articles
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Report of a Case
    14. Letter to the Editor
    15. Rapid Publication
    1. Familial immotile-cilia syndrome in English springer spaniel dogs (pages 290–298)

      David F. Edwards, John R. Kennedy, Clark S. Patton, Robert L. Toal, Gregory B. Daniel and Clinton D. Lothrop

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330303

    2. A new lethal brittle bone syndrome with increased amount of type V collagen in a patient (pages 299–310)

      Jacky Bonaventure, Louise Zylberberg, Lola Cohen-Solal, Jean-Claude Allain, Catherine Lasselin and Pierre Maroteaux

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330304

    3. Autosomal recessive form of connatal Pelizaeus-Merzbacher disease (pages 311–313)

      Michael L. Begleiter and David J. Harris

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330305

  4. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Obituary
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. New Syndrome
    8. Articles
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Report of a Case
    14. Letter to the Editor
    15. Rapid Publication
    1. Apparent Ruvalcaba syndrome with genitourinary abnormalities (pages 314–317)

      Dr. Martin G. Bialer, William G. Wilson and Thaddeus E. Kelly

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330306

  5. Articles

    1. Top of page
    2. Masthead
    3. Obituary
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. New Syndrome
    8. Articles
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Report of a Case
    14. Letter to the Editor
    15. Rapid Publication
    1. Acrofacial dysostoses (pages 318–322)

      M. Le Merrer, M. Cikuli, J. Ribier and M. L. Briard

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320330307

    2. In utero thrombosis and neonatal gangrene in an infant of a diabetic mother (pages 323–327)

      Margot I. Van Allen, J. Craig Jackson, Robert H. Knopp and Richard Cone

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330308

    3. Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: A variant of infantile spinal muscular atrophy (pages 328–335)

      E. Bertini, J. L. Gadisseux, G. Palmieri, E. Ricci, M. Di Capua, G. Ferriere and G. Lyon

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330309

    4. Epiphyseal dysplasia, microcephaly, nystagmus, and retinitis pigmentosa (pages 341–345)

      Dr. R. Brian Lowry, Betty J. Wood, Terry A. Cox and Michael R. Hayden

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330311

  6. New Syndrome

    1. Top of page
    2. Masthead
    3. Obituary
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. New Syndrome
    8. Articles
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Report of a Case
    14. Letter to the Editor
    15. Rapid Publication
    1. RAPADILINO syndrome with radial and patellar aplasia/hypoplasia as main manifestations (pages 346–351)

      Helena Kääriäinen, Soini Ryöppy and Reijo Norio

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320330312

  7. Articles

    1. Top of page
    2. Masthead
    3. Obituary
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. New Syndrome
    8. Articles
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Report of a Case
    14. Letter to the Editor
    15. Rapid Publication
    1. Lymphatic abnormalities in fetuses with posterior cervical cystic hygroma (pages 352–356)

      David Chitayat, Dr. Dagmar K. Kalousek and J. Stephen Bamforth

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330313

    2. Apparently previously undescribed X-linked dominant syndrome with facial and skeletal anomalies (pages 357–363)

      Saroj Kapur, Ann Swinford, Atis K. Freimanis and Ralph S. Lachman

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320330314

    3. Emerging phenotype of duplication (7p): A report of three cases and review of the literature (pages 364–368)

      Jeffrey M. Milunsky, Herman E. Wyandt and Aubrey Milunsky

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330315

    4. Characterization of an unusual and complex chromosome 21 rearrangement using somatic cell genetics and cloned DNA probes (pages 369–375)

      Margaret L. Van Keuren, Gordon D. Stewart, Cynthia M. Bradley, David M. Kurnit, Rachael L. Neve, Paul C. Watkins, Rudolph E. Tanzi, James F. Gusella and David Patterson

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320330316

    5. Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome (pages 376–381)

      Dr. Fahed Halal, Robert Gledhill and Aaron Dudkiewicz

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330317

    6. Autosomal dominant microcephaly with mental retardation (pages 382–384)

      Dr. E. Bawle and M. Horton

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330318

    7. Prenatal diagnosis of cystic kidney disease with ventriculomegaly: A report of six cases in two related sib ships (pages 385–389)

      A Reuss, J. C. den Hollander, M. F. Niermeijer, J. W. Wladimiroff, O. P. van Diggelen, D. Lindhout and F. J. Los

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320330319

    8. Immotile cilia syndrome including polysplenia, situs inversus, and extrahepatic biliary atresia (pages 390–393)

      Dr. Ruth Gershoni-Baruch, Emanuel Gottfried, Menucha Pery, Abdala Sahin and Amos Etzioni

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330320

  8. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Obituary
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. New Syndrome
    8. Articles
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Report of a Case
    14. Letter to the Editor
    15. Rapid Publication
  9. Articles

    1. Top of page
    2. Masthead
    3. Obituary
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. New Syndrome
    8. Articles
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Report of a Case
    14. Letter to the Editor
    15. Rapid Publication
    1. Cystic renal disease and cardiovascular anomalies (pages 398–401)

      Dr. Jane A. Evans and Leonie C. Stranc

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320330322

  10. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Obituary
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. New Syndrome
    8. Articles
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Report of a Case
    14. Letter to the Editor
    15. Rapid Publication
    1. Cystic hygroma and 45,X/46,XY mosaicism (pages 402–404)

      Marion S. Verp, Zubie Sheikh, Anthony P. Amarose and Luis A. Cibils

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330323

  11. Articles

    1. Top of page
    2. Masthead
    3. Obituary
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. New Syndrome
    8. Articles
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Report of a Case
    14. Letter to the Editor
    15. Rapid Publication
    1. Autoimmune thyroid phenomena are not evidence for human lymphocyte antigen-genetic heterogeneity in insulin-dependent diabetes (pages 405–408)

      David B. Allen, Michael J. MacDonald, Jerome L. Gottschall and Jay B. Hunter

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330324

    2. Spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy (Boucher-Neuhäuser syndrome (pages 409–414)

      Ellen R. Limber, George H. Bresnick, Ruth M. Lebovitz, Richard E. Appen, Enid F. Gilbert-Barness and Richard M. Pauli

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330325

  12. Report of a Case

    1. Top of page
    2. Masthead
    3. Obituary
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. New Syndrome
    8. Articles
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Report of a Case
    14. Letter to the Editor
    15. Rapid Publication
    1. Acromesomelic dysplasia: Radiologic, clinical, and pathological study (pages 415–419)

      Rafael Fernández del Moral, José M. Santolaya Jiménez, José I. Rodríguez González and Ricardo Franco Vicario

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330326

  13. Letter to the Editor

    1. Top of page
    2. Masthead
    3. Obituary
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. New Syndrome
    8. Articles
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Report of a Case
    14. Letter to the Editor
    15. Rapid Publication
    1. Unusual association: Dandy-Walker-like malformation in the Rubinstein-Taybi syndrome (pages 420–421)

      Prof. Eugenio Bonioli, Carlo Bellini and Antonio Di Stefano

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330327

    2. Rare 15q duplication in an abortus (pages 422–423)

      S. M. Jalal, Donald W. Day and Mark C. Nelson

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330328

    3. Niikawa-Kuroki (Kabuki make-up) syndrome (page 425)

      John J. Mulvihill and Muriel I. Kaiser-Kupfer

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320330330

  14. Rapid Publication

    1. Top of page
    2. Masthead
    3. Obituary
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. New Syndrome
    8. Articles
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Report of a Case
    14. Letter to the Editor
    15. Rapid Publication
    1. Chromosome deletion of Xq25 in an individual with X-linked lymphoproliferative disease (pages 426–430)

      H. E. Wyandt, H. L. Grierson, W. G. Sanger, J. C. Skare, A. Milunsky and D. T. Purtilo

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320330331

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