American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

15 April 1993

Volume 46, Issue 2

Pages fmi–fmi, 113–254

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. Animal Model
    13. Articles
    14. New Syndrome
    15. Articles
    16. Editorial Comments
    17. Articles
    18. Letter to the Editors
    1. You have free access to this content
      Masthead (page fmi)

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460201

  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. Animal Model
    13. Articles
    14. New Syndrome
    15. Articles
    16. Editorial Comments
    17. Articles
    18. Letter to the Editors
    1. Chromosome cultures from human cartilage (pages 123–125)

      Dr. Miguel Urioste

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460203

  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. Animal Model
    13. Articles
    14. New Syndrome
    15. Articles
    16. Editorial Comments
    17. Articles
    18. Letter to the Editors
    1. Sandrow syndrome of mirror hands and feet and facial abnormalities (pages 126–128)

      Nandini Kogekar, Ahmad S. Teebi and Dr. Jerry Vockley

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460204

  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. Animal Model
    13. Articles
    14. New Syndrome
    15. Articles
    16. Editorial Comments
    17. Articles
    18. Letter to the Editors
    1. Mirror hands and feet with a distinct nasal defect, an autosomal dominant condition (pages 129–131)

      Rick A. Martin, Marilyn C. Jones and Kenneth L. Jones

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460205

    2. Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes: Report of new cases and delineation of 4 probable types (pages 132–137)

      Dr. Alain Verloes, Hubert Journel, Catherine Elmer, Jean-Paul Misson, Martine Le Merrer, Josseline Kaplan, Lionel Van Maldergem, H. Deconinck and Françoise Meire

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460206

  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. Animal Model
    13. Articles
    14. New Syndrome
    15. Articles
    16. Editorial Comments
    17. Articles
    18. Letter to the Editors
    1. Brachydactyly, mesomelia, mental retardation, aortic dilatation, mitral valve prolapse, and characteristic face (pages 138–141)

      Dr. Robert F. Stratton, Patricia R. Garcia, Robert S. Young and Ronald J. Jorgenson

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320460207

  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. Animal Model
    13. Articles
    14. New Syndrome
    15. Articles
    16. Editorial Comments
    17. Articles
    18. Letter to the Editors
    1. 18q-mosaicism associated with Rett syndrome phenotype (pages 142–144)

      Kevin Gordon, Victoria Mok Siu, Fred Sergovich and Jack Jung

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460208

  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. Animal Model
    13. Articles
    14. New Syndrome
    15. Articles
    16. Editorial Comments
    17. Articles
    18. Letter to the Editors
    1. Proteus syndrome with cardiomyopathy and a myocardial mass (pages 145–148)

      Dr. Christopher Shaw, John Bourke and Joanne Dixon

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460209

  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. Animal Model
    13. Articles
    14. New Syndrome
    15. Articles
    16. Editorial Comments
    17. Articles
    18. Letter to the Editors
    1. Decrease in calcitonin-containing cells in truncus arteriosus (pages 149–153)

      Carlos Gamallo, Marcial García, José Palacios and Dr. José Ignacio Rodríguez

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460210

  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. Animal Model
    13. Articles
    14. New Syndrome
    15. Articles
    16. Editorial Comments
    17. Articles
    18. Letter to the Editors
    1. Dir dup(X) (q13[RIGHTWARDS ARROW]qter) in a girl with growth retardation, microcephaly, developmental delay, seizures, and minor anomalies (pages 159–164)

      David J. Aughton, Abdul A. AlSaadi, Judith A. Johnson, David J. Transue and Gary L. Trock

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460212

  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. Animal Model
    13. Articles
    14. New Syndrome
    15. Articles
    16. Editorial Comments
    17. Articles
    18. Letter to the Editors
    1. Segregation analysis of rare autosomal folate sensitive fragile sites (pages 165–171)

      Pranati Samadder, Jane A. Evans and Dr. Albert E. Chudley

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460213

    2. Severe nonspecific X-linked mental retardation caused by a proximally Xp located gene: Intragenic heterogeneity or a new form of X-linked mental retardation? (pages 172–175)

      Maria Rita Passos-Bueno, Barbara C. Byth, Sergio Rosenberg, Reinaldo I. Takata, Egbert Bakker, Alan H. Beggs, Rita C. Pavanello, Mariz Vainzof, Kay E. Davies and Mayana Zatz

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460214

    3. Index finger hyperphalangy and multiple anomalies: Catel-manzke syndrome? (pages 176–179)

      Golder N. Wilson, Teresa E. King and Gail S. Brookshire

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320460215

    4. Vascular anomalies in campomelic syndrome (pages 185–192)

      Dr. José Ignacio Rodríguez

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460218

    5. Trisomy 4 in a fetus with cyclopia and other anomalies (pages 193–197)

      Dr. Margot I. Van Allen, Susan Ritchie, Ants Toi, Katherine Fong and Elizabeth Winsor

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460219

  11. Animal Model

    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. Animal Model
    13. Articles
    14. New Syndrome
    15. Articles
    16. Editorial Comments
    17. Articles
    18. Letter to the Editors
    1. Bromodeoxyuridine induces chromosomal fragile sited in the canine genome (pages 198–202)

      Dr. Diana M. Stone and Kimberly E. Stephens

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460220

  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. Animal Model
    13. Articles
    14. New Syndrome
    15. Articles
    16. Editorial Comments
    17. Articles
    18. Letter to the Editors
    1. Congenital scalp defects and vitreoretinal degeneration: Redefining the Knobloch syndrome (pages 203–208)

      Laurie H. Seaver, Leonard Joffe, Ronald P. Spark, Barbara L. Smith and H. Eugene Hoyme

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460221

    2. Long-term outcome of Hurler syndrome following bone marrow transplantation (pages 209–218)

      Chester B. Whitley, Kumar G. Belani, Pi-Nian Chang, C. Gail Summers, Bruce R. Blazar, Michael Y. Tsai, Richard E. Latchaw, Norma K. C. Ramsay and John H. Kersey

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320460222

  13. 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. Animal Model
    13. Articles
    14. New Syndrome
    15. Articles
    16. Editorial Comments
    17. Articles
    18. Letter to the Editors
  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. Animal Model
    13. Articles
    14. New Syndrome
    15. Articles
    16. Editorial Comments
    17. Articles
    18. Letter to the Editors
    1. Bone dysplasia, midface hypoplasia, and deafness: Three new patients and review of the literature (pages 223–227)

      Helena Kääriäinen, Margaret Barrow and Raoul Hennekam

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460224

    2. New multisystemic disorder involving heart valves, skin, bones, and joints in two brothers (pages 228–234)

      C. Borrone, Dr. M. Di Rocco, F. Crovato, G. Camera and C. Gambini

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460225

  15. Editorial Comments

    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. Animal Model
    13. Articles
    14. New Syndrome
    15. Articles
    16. Editorial Comments
    17. Articles
    18. Letter to the Editors
  16. 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. Animal Model
    13. Articles
    14. New Syndrome
    15. Articles
    16. Editorial Comments
    17. Articles
    18. Letter to the Editors
    1. Charles Darwin and other great men in correspondence with Carl Wilhelm von Naegeli (pages 236–243)

      Walter Naegeli and Professor Dr. med Drs. h.c. Hans-Rudolf Wiedemann

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460227

  17. Letter to the Editors

    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. Animal Model
    13. Articles
    14. New Syndrome
    15. Articles
    16. Editorial Comments
    17. Articles
    18. Letter to the Editors
    1. Microcephaly in Rubinstein-Taybi syndrome (pages 244–246)

      Judith E. Allanson

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460228

    2. Manifestation of heterozygosity in Papillon-Lefèvre syndrome? (page 247)

      Dr. Dieter Kotzot and Rudolf A. Pfeiffer

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460229

    3. Incidence and associations of single umbilical artery (page 248)

      Dr. Alexander K. C. Leung and Wm. Lane M. Robson

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460230

    4. Incidence and association of single umbilical artery: Response to Drs. Leung and Robson (page 249)

      K. Csécsei, T. Kovács, S. A. Hinchliffe and Z. Papp

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460231

    5. Inbreeding among medical geneticists (page 254)

      Dr. Newton Freire-Maia

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320460233

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