American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

December 1988

Volume 31, Issue 4

Pages fmi–fmi, 733–995, i–ii

Currently known as: American Journal of Medical Genetics Part A

  1. Masthead

    1. Top of page
    2. Masthead
    3. Letter to the Editors
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Animal Model
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Brief Clinical Reports
    15. Articles
    16. Letter to the Editors
    17. Announcement
    1. Masthead (page fmi)

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320310401

  2. Letter to the Editors

    1. Top of page
    2. Masthead
    3. Letter to the Editors
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Animal Model
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Brief Clinical Reports
    15. Articles
    16. Letter to the Editors
    17. Announcement
    1. Thyroid function in men with fragile X-linked MR (pages 733–734)

      Don P. Wilson, Nancy J. Carpenter, Gary Berkovitz, John M. Opitz and James F. Reynolds

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320310402

  3. Articles

    1. Top of page
    2. Masthead
    3. Letter to the Editors
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Animal Model
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Brief Clinical Reports
    15. Articles
    16. Letter to the Editors
    17. Announcement
    1. Martin-Bell syndrome in Greece, with report of another 47,XXY fragile X patient (pages 735–739)

      Ariadni Mavrou, Maria Syrrou, Christine Tsenghi, Manthos Agelakis, Sotiris Youroukos, Catherine Metaxotou, John M. Opitz and James F. Reynolds

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320310403

    2. Mental retardation, distinct facial changes, short stature, obesity, and hypogonadism: A new X-linked mental retardation syndrome (pages 741–751)

      Dr. Albert E. Chudley, R. Brian Lowry, David I. Hoar, John M. Opitz and James F. Reynolds

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320310404

    3. Recurrence risks for relatives in families with an isolated case of the fragile X syndrome (pages 753–765)

      Stephanie L. Sherman, André Rogatko, Gillian Turner, John M. Opitz and James F. Reynolds

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320310405

    4. Metacarpophalangeal pattern profile analysis in fragile X syndrome (pages 767–773)

      Merlin G. Butler, Mark Fletcher, David D. Gale, F. John Meaney, D. Ross McLeod, Joel Fagan, Nancy J. Carpenter, John M. Opitz and James F. Reynolds

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320310406

  4. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Letter to the Editors
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Animal Model
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Brief Clinical Reports
    15. Articles
    16. Letter to the Editors
    17. Announcement
    1. The use of early simultaneous percutaneous umbilical blood sampling (PUBS) and amniocentesis for prenatal fragile X chromosome diagnosis (pages 775–778)

      Merlin G. Butler, Vaithilingam G. Dev, Dinesh Shah, Janet E. Ulm, Patrick L. Wilmot, Lawrence R. Shapiro, John M. Opitz and James F. Reynolds

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320310407

  5. Articles

    1. Top of page
    2. Masthead
    3. Letter to the Editors
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Animal Model
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Brief Clinical Reports
    15. Articles
    16. Letter to the Editors
    17. Announcement
    1. Do some patients with fragile X syndrome have precocious puberty? (pages 779–781)

      Merlin G. Butler, Jennifer L. Najjar, John M. Opitz and James F. Reynolds

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320310408

  6. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Letter to the Editors
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Animal Model
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Brief Clinical Reports
    15. Articles
    16. Letter to the Editors
    17. Announcement
    1. Balanced X;15 translocation 46,X,t(X;15)(q21;q23) associated with primary amenorrhea (pages 783–786)

      Xue-Wen Ji, Xiao-Yi Chen, Jun Tan, Hong Liang, John M. Opitz and James F. Reynolds

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320310409

    2. Prader-Willi habitus, osteopenia, and camptodactyly (Urban-Rogers-Meyer syndrome): A probable second report (pages 787–792)

      Nina A. B. Pagnan, Dr. Thomaz Rafael Gollop, John M. Opitz and James F. Reynolds

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320310410

  7. Animal Model

    1. Top of page
    2. Masthead
    3. Letter to the Editors
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Animal Model
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Brief Clinical Reports
    15. Articles
    16. Letter to the Editors
    17. Announcement
    1. Greig cephalopolysyndactyly syndrome: A possible mouse homologue (Xt-extra toes) (pages 793–798)

      Dr. Robin M. Winter, Susan M. Huson, David J. Prieur and James F. Reynolds

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320310411

  8. Articles

    1. Top of page
    2. Masthead
    3. Letter to the Editors
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Animal Model
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Brief Clinical Reports
    15. Articles
    16. Letter to the Editors
    17. Announcement
    1. Chromosomal localisation of a developmental gene in man: Direct DNA analysis demonstrates that Greig cephalopolysyndactyly maps to 7p13 (pages 799–804)

      Louise Brueton, Susan M. Huson, Robin M. Winter, Robert Williamson, John M. Opitz and James F. Reynolds

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320310412

    2. The syndrome of diaphragmatic hernia, abnormal face and distal limb anomalies (Fryns syndrome): Report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome (pages 805–814)

      Dr. Philippe Moerman, Jean-Pierre Fryns, Kamiel Vandenberghe, Hugo Devlieger, Joseph M. Lauweryns, John M. Opitz and James F. Reynolds

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320310413

    3. Thanatophoric dysplasia: An autosomal dominant condition? (pages 815–820)

      M. L. Martínez-Frías, M. A. Ramos-Arroyo, J. Salvador, John M. Opitz and James F. Reynolds

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320310414

    4. Effect of mazindol on growth hormone levels in patients with Duchenne muscular dystrophy (pages 821–833)

      Dr. Mayana Zatz, Debora Rapaport, Mariz Vainzof, Rita de Cassia M. Pavanello, Jane M. L. Rocha, Roberto T. B. Betti, Paulo A. Otto, John M. Opitz and James F. Reynolds

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320310415

    5. Isochromosome 12p mosaicism (Pallister-Killian syndrome): Newborn diagnosis by direct bone marrow analysis (pages 835–839)

      Brian E. Ward, Melody W. Hayden, Arthur Robinson, John M. Opitz and James F. Reynolds

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320310416

    6. Pallister-Killian mosaic syndrome with emphasis on the adult phenotype (pages 841–844)

      Oliver W. J. Quarrell, Merryl A. Hamill, Helen E. Hughes, John M. Opitz and James F. Reynolds

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320310417

    7. Prevalence of dominant mutations in Spain: Effect of changes in maternal age distribution (pages 845–852)

      Dr. Maria L. Martínez-Frías, Inmaculada Herranz, Joaquin Salvador, Luis Prieto, Maria A. Ramos-Arroyo, Elvira Rodríguez-Pinilla, José F. Cordero, John M. Opitz and James F. Reynolds

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320310418

    8. Deletion 9p, duplication 18q in two sisters resulting from a maternal (9;18) (p22;q21.3) translocation (pages 853–861)

      Shawky M. Tayel, Thaddeus W. Kurczynski, Susan Casperson, Maureen M. McCorquodale, John M. Opitz and James F. Reynolds

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320310419

    9. Ocular hypotelorism, submucosal cleft palate, and hypospadias: A new autosomal dominant syndrome (pages 863–870)

      U. Schilbach, Professor. Dr. H.-D. Rott, Giovanni Neri and James F. Reynolds

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320310420

    10. Carrier detection in hemophilia A: ABO blood group, multiple measurements, and application of logistic discrimination (pages 871–879)

      M. E. Percy, A. C. M. Rusk, M. B. Garvey, J. J. Freedman, J. M. Teitel, P. Blake, C. Carter, M. Andrew, M. Johnson, M. Inwood, D. F. Andrews, P. M. A. Brasher, John M. Opitz and James F. Reynolds

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320310421

    11. Newly recognized autosomal dominant syndrome of rhizomelic shortness with clavicular defect (pages 881–885)

      Dr. Colin Wallis, Solly Zieff, Jack Goldblatt, John M. Opitz and James F. Reynolds

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320310422

    12. Juvenile galactosialidosis in a white male: A new variant (pages 887–901)

      David Chitayat, Derek A. Applegarth, Joyce Lewis, James E. Dimmick, Andrew Q. McCormick, Dr. Judith G. Hall, John M. Opitz and James F. Reynolds

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320310423

  9. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Letter to the Editors
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Animal Model
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Brief Clinical Reports
    15. Articles
    16. Letter to the Editors
    17. Announcement
    1. Cerebellar infarction in a patient with Waardenburg syndrome (pages 903–907)

      Steven A. Narod, Dr. Jacqueline Siegel-Bartelt, H. J. Hoffman, John M. Opitz and James F. Reynolds

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320310424

  10. Articles

    1. Top of page
    2. Masthead
    3. Letter to the Editors
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Animal Model
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Brief Clinical Reports
    15. Articles
    16. Letter to the Editors
    17. Announcement
    1. Hepatocellular carcinoma in a child with familial Russell-Silver syndrome (pages 909–914)

      David Chitayat, Jan M. Friedman, Linda Anderson, James E. Dimmick, John M. Opitz and James F. Reynolds

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320310425

  11. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Letter to the Editors
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Animal Model
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Brief Clinical Reports
    15. Articles
    16. Letter to the Editors
    17. Announcement
    1. Ultrasonographic prenatal diagnosis and fetal pathology of Langer mesomelic dwarfism (pages 915–920)

      Dr. Mark I. Evans, Ivan E. Zador, Faisal Qureshi, Harish Budev, Mary Helen Quigg, Henry L. Nadler, John M. Opitz and James F. Reynolds

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320310426

  12. Articles

    1. Top of page
    2. Masthead
    3. Letter to the Editors
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Animal Model
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Brief Clinical Reports
    15. Articles
    16. Letter to the Editors
    17. Announcement
    1. Osteogenesis imperfecta type I with unusual dental abnormalities (pages 921–932)

      Dr. L. Stefan Levin, Richard J. Young, Reed E. Pyeritz, John M. Opitz and James F. Reynolds

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320310427

    2. Late onset scleroatonic familial myopathy (Ullrich disease): A study of two sibs (pages 933–942)

      Dr. Enzo Ricci, Enrico Bertini, Renata Boldrini, Mario Sabatelli, Serenella Servidei, Mercedes R. M. Mazziotta, Cesare Bosman, Pietro Tonali, Giovanni Neri and James F. Reynolds

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320310428

    3. Direct chromosome analysis from neonatal cord blood (pages 943–946)

      Dr. Donald W. Day, S. M. Jalal, Leslie Sinclair-Worley, Mary Kukolich, Mahlon Freeman, Joseph Sakakini, John M. Opitz and James F. Reynolds

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320310429

  13. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Letter to the Editors
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Animal Model
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Brief Clinical Reports
    15. Articles
    16. Letter to the Editors
    17. Announcement
    1. Partial trisomy 9—further delineation of the phenotype (pages 947–951)

      Ronald D. Smart, Denis L. Viljoen, Brian Fraser, John M. Opitz and James F. Reynolds

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320310430

  14. Articles

    1. Top of page
    2. Masthead
    3. Letter to the Editors
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Animal Model
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Brief Clinical Reports
    15. Articles
    16. Letter to the Editors
    17. Announcement
    1. Prenatal diagnosis and the Canadian collaborative randomized trial of chorionic villi sampling: The physician's view (pages 953–961)

      Mellisa J. Fahy, Abby Lippman, John M. Opitz and James F. Reynolds

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320310431

    2. Angular homeostasis V: Some issues in genetics, ontogeny, and evolution (pages 963–979)

      Dr. E. A. Murphy, K. R. Berger, J. E. Trojak, Y. Sagawa and John M. Opitz

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320310432

    3. Duplication 8q24.2[RIGHTWARDS ARROW]qter and 15q14[RIGHTWARDS ARROW]pter resulting from a 3:1 meiotic segregation of a maternal reciprocal translocation (pages 981–985)

      Dr. Katrin Kausch, Thomas Haaf, Michael Schmid, Giovanni Neri and James F. Reynolds

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320310433

  15. Letter to the Editors

    1. Top of page
    2. Masthead
    3. Letter to the Editors
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Animal Model
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Brief Clinical Reports
    15. Articles
    16. Letter to the Editors
    17. Announcement
    1. Report of a case resembling the proteus syndrome with a chromosome abnormality (pages 987–989)

      Dr. Burhan Say, Nancy J. Carpenter, John M. Opitz and James F. Reynolds

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320310434

    2. Theoretical expectations for deletional mutations in Duchenne muscular dystrophy (pages 991–992)

      Francesco Giannelli and John M. Opitz

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320310435

    3. Reply to F. Giannelli: Theoretical expectations for deletional mutations in Duchenne muscular dystrophy (pages 993–994)

      T. Grimm, G. A. Danieli, C. R. Müller and John M. Opitz

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320310436

    4. Neurofibromatosis in Papua New Guinea (page 995)

      Dr. Euan M. Scrimgeour, S. K. Sengupta and John M. Opitz

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320310437

  16. Announcement

    1. Top of page
    2. Masthead
    3. Letter to the Editors
    4. Articles
    5. Brief Clinical Reports
    6. Articles
    7. Brief Clinical Reports
    8. Animal Model
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Brief Clinical Reports
    13. Articles
    14. Brief Clinical Reports
    15. Articles
    16. Letter to the Editors
    17. Announcement
    1. You have free access to this content
      Announcement (pages i–ii)

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320310438

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