American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

15 February 1992

Volume 42, Issue 4

Pages fmi–fmi, 415–641

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. New Syndrome
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Invited Editorial
    13. Articles
    14. Miscellaneous
    15. Articles
    16. Rapid Publications
    1. Masthead (page fmi)

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420401

  2. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. New Syndrome
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Invited Editorial
    13. Articles
    14. Miscellaneous
    15. Articles
    16. Rapid Publications
    1. Anthropometric studies in five children and their mother with a severe form multiple epiphyseal dysplasia (pages 415–419)

      Teresa Villarreal, Alessandra Carnevale, Dora Gilda Mayén, Raúl Takenaga and Victoria del Castillo

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320420402

    2. Inbreeding effect on morbidity: IV. Further data in Brazilian populations (pages 420–423)

      Margaret Kaku and Dr. Newton Freire-Maia

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420403

  3. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. New Syndrome
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Invited Editorial
    13. Articles
    14. Miscellaneous
    15. Articles
    16. Rapid Publications
    1. Nonrandom association of atrioventricular canal and del (8p) syndrome (pages 424–427)

      M.D. Bruno Marino, Antonino Reale, Aldo Giannotti, Maria Cristina Digilio and Bruno Dallapiccola

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420404

  4. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. New Syndrome
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Invited Editorial
    13. Articles
    14. Miscellaneous
    15. Articles
    16. Rapid Publications
    1. Fat distribution in overweight patients with Ullrich-Turner syndrome (pages 428–430)

      Keiichi Hanaki, Takehiko Ohzeki, Nobuo Ishitani, Hiroko Motozumi, Hiroko Matsuda-Ohtahara and Kazuo Shiraki

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420405

    2. Molecular nosology of heritable disorders of connective tissue (pages 431–448)

      Professor P. Beighton, A. De Paepe, J. G. Hall, D. W. Hollister, F. M. Pope, R. E. Pyeritz, B. Steinmann and P. Tsipouras

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320420406

  5. New Syndrome

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. New Syndrome
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Invited Editorial
    13. Articles
    14. Miscellaneous
    15. Articles
    16. Rapid Publications
    1. Short stature, mental retardation, eye anomalies, and cleft lip/palate (pages 449–452)

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

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420407

  6. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. New Syndrome
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Invited Editorial
    13. Articles
    14. Miscellaneous
    15. Articles
    16. Rapid Publications
    1. Amplification of ten deletion-rich exons of the dystrophin gene by polymerase chain reaction shows deletions in 36 of 90 Japanese families with Duchenne muscular dystrophy (pages 453–457)

      Yoshihiko Kitoh, M.D. Masafumi Matsuo, Hisahide Nishio, Toru Takumi, Toshihiro Nakajima, Takehiro Masumura, Junichi Koga and Hajime Nakamura

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420408

  7. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. New Syndrome
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Invited Editorial
    13. Articles
    14. Miscellaneous
    15. Articles
    16. Rapid Publications
  8. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. New Syndrome
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Invited Editorial
    13. Articles
    14. Miscellaneous
    15. Articles
    16. Rapid Publications
  9. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. New Syndrome
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Invited Editorial
    13. Articles
    14. Miscellaneous
    15. Articles
    16. Rapid Publications
    1. Marden-Walker-like syndrome without psychomotor retardation: Report of a Brazilian girl born to consanguineous parents (pages 467–469)

      Jenny J. van den Ende, Yolande van Bever, E. S. O. Rodini and A. Richieri-Costa

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420411

  10. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. New Syndrome
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Invited Editorial
    13. Articles
    14. Miscellaneous
    15. Articles
    16. Rapid Publications
    1. Constrictive amniotic bands, amniotic adhesions, and limb-body wall complex: Discrete disruption sequences with pathogenetic overlap (pages 470–479)

      Philippe Moerman, Jean-Pierre Fryns, Kamiel Vandenberghe and Joseph M. Lauweryns

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420412

    2. Ventricular extrasystoles with syncopal episodes, perodactyly, and Robin sequence in three generations: A new inherited MCA syndrome? (pages 480–486)

      Professor Claude Stoll, Jean-René Kieny, Béatrice Dott, Yves Alembik and Sonya Finck

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420413

    3. Molecular study of 45,X conceptuses: Correlation with clinical findings (pages 487–490)

      Isabel Lorda-Sanchez, Franz Binkert, Marco Maechler and Albert Schinzel

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420414

  11. Invited Editorial

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. New Syndrome
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Invited Editorial
    13. Articles
    14. Miscellaneous
    15. Articles
    16. Rapid Publications
  12. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. New Syndrome
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Invited Editorial
    13. Articles
    14. Miscellaneous
    15. Articles
    16. Rapid Publications
    1. Predictive testing for Huntington disease in Canada: The experience of those receiving an increased risk (pages 499–507)

      Maurice Bloch, Shelin Adam, Sandy Wiggins, Marlene Huggins and Michael R. Hayden

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320420416

    2. Predictive testing for Huntington disease in Canada: Adverse effects and unexpected results in those receiving a decreased risk (pages 508–515)

      Marlene Huggins, Maurice Bloch, Sandi Wiggins, Shelin Adam, Oksana Suchowersky, Michael Trew, Marylou Klimek, Cheryl R. Greenberg, Michael Eleff, Louise P. Thompson, Julie Knight, Patrick MacLeod, Kathleen Girard, Jane Theilmann, Amy Hedrick and Michael R. Hayden

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320420417

  13. Miscellaneous

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. New Syndrome
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Invited Editorial
    13. Articles
    14. Miscellaneous
    15. Articles
    16. Rapid Publications
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  14. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. New Syndrome
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Invited Editorial
    13. Articles
    14. Miscellaneous
    15. Articles
    16. Rapid Publications
    1. Perspective of biochemical research in the neuronal ceroid-lipofuscinosis (pages 519–524)

      J. Alfred Rider, Glyn Dawson and Aristotle N. Siakotos

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420419

    2. Incidence of neuronal ceroid-lipofuscinoses in West Germany: Variation of a method for studying autosomal recessive disorders (pages 536–538)

      Matthias Claussen, Peter Heim, Jarold Knispel, Hans H. Goebel and Alfried Kohlschütter

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420422

    3. Linkage analysis in juvenile neuronal ceroid lipofuscinosis (pages 542–545)

      Jonathan L. Haines, Wei-Lang Yan, Rose-Mary Boustany, Ann Jewell, Cecile Julier, Xandra O. Breakefield and James F. Gusella

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320420424

    4. Linkage map of the chromosomal region surrounding the infantile neuronal ceroid lipofuscinosis on 1p (pages 546–548)

      Irma Järvelä, Pirkko Santavuori, Lea Puhakka, Matti Haltia and Leena Peltonen

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420425

    5. Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease) (pages 561–567)

      Dr. David N. Palmer, Ian M. Fearnley, John E. Walker, Nicholas A. Hall, Brian D. Lake, Leonhard S. Wolfe, Matti Haltia, Ryan D. Martinus and Robert D. Jolly

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420428

    6. Altered protein patterns in brains of children with neuronal ceroid lipofuscinosis (pages 568–574)

      K. E. Wisniewski, W. Gordon-Majszak, S. Maslinski and J. Heaney-Kieras

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420429

    7. Biochemical studies on the juvenile form of ceroid-lipofuscinosis (pages 575–579)

      Raju K. Pullarkat, George N. Morris, Premila S. Pullarkat, Gundula U. Labadie and Sandra E. Zawitosky

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420430

    8. Stored dolichyl pyrophosphoryl oligosaccharides in Batten disease (pages 580–585)

      Nicholas A. Hall, Jane E. Thomas-Oates, Anne Dell, Matti Haltia, Brian D. Lake and A. Desmond Patrick

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420431

    9. Evidence for processing of dolichol-linked oligosaccharides in patients with neuronal ceroid-lipofuscinosis (pages 586–592)

      Dr. Peter F. Daniel, Derrick L. Sauls and Rose-Mary N. Boustany

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420432

    10. Niemann-Pick type-C disease: Deficient intracellular transport of exogenously derived cholesterol (pages 593–598)

      Calvin F. Roff, Ehud Goldin, Marcella E. Comly, Joan Blanchette-Mackie, Adele Cooney, Roscoe O. Brady and Peter G. Pentchev

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420433

    11. Sheep and other animals with ceroid-lipofuscinoses: Their relevance to Batten disease (pages 609–614)

      Robert D. Jolly, Ryan D. Martinus and David N. Palmer

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320420436

    12. Tibetan terrier model of canine ceroid lipofuscinosis (pages 615–621)

      Dr. Ronald C. Riis, John F. Cummings, Ellis R. Loew and Alexander de Lahunta

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420437

    13. Amelioration of clinical disease following bone marrow transplantation in fucosidase-deficient dogs (pages 628–632)

      Rosanne M. Taylor, Brian R. H. Farrow and Dr. Graeme J. Stewart

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420439

  15. Rapid Publications

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. New Syndrome
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Brief Clinical Reports
    11. Articles
    12. Invited Editorial
    13. Articles
    14. Miscellaneous
    15. Articles
    16. Rapid Publications
    1. Monozygotic twinning and Wiedemann-Beckwith syndrome (pages 633–637)

      Jill Clayton-Smith, Andrew P Read and Dian Donnai

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420440

    2. Recurrent Wiedemann-Beckwith syndrome with inversion of chromosome (11)(p11.2p15.5) (pages 638–641)

      Andrew M Norman, Andrew P Read, Jill Clayton-Smith, Tony Andrews and Dian Donnai

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420441

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