American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

July 1990

Volume 36, Issue 3

Pages fmi–fmi, 265–379

Currently known as: American Journal of Medical Genetics Part A

  1. Masthead

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

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320360301

  2. Brief Clinical Reports

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

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. New Syndrome
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Animal Model
    14. Articles
    15. Animal Model
    16. Brief Clinical Reports
    17. Articles
    18. Letter to the Editors
    1. Syndrome of brittle cornea, blue sclera, and joint hyperextensibility (pages 269–272)

      Joel Zlotogora, David BenEzra, Tirza Cohen and Evelyne Cohen

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320360303

  4. New Syndrome

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

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. New Syndrome
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Animal Model
    14. Articles
    15. Animal Model
    16. Brief Clinical Reports
    17. Articles
    18. Letter to the Editors
    1. Hypodipsic hypernatremia and hypertriglyceridemia associated with cleft lip and cleft palate: A new hypothalamic dysfunction syndrome? (pages 275–278)

      Dan Ben-Amitai, Avinoam Rachmel, Yael Levy, Yakov Sivan, Menachem Nitzan and Reuben Steinherz

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320360305

    2. Possible heterogeneity in spondyloenchondrodysplasia: Quadriparesis, basal ganglia calcifications, and chondrocyte inclusions (pages 279–284)

      Moshe Frydman, Jacob Bar-Ziv, Rivka Preminger-Shapiro, Amichai Brezner, Natan Brand, Tamar Ben-Ami, Ralph S. Lachman, Helen E. Gruber and David L. Rimoin

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320360306

  6. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. New Syndrome
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Animal Model
    14. Articles
    15. Animal Model
    16. Brief Clinical Reports
    17. Articles
    18. Letter to the Editors
    1. Hypogonadotropic hypogonadism in mentally retarded adults with microphthalmia and clinical anophthalmia (pages 285–287)

      Laura Davis Keppen, Michael C. Brodsky, Judith M. Michael and Ann R. Poindexter

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320360307

  7. Articles

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. New Syndrome
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Animal Model
    14. Articles
    15. Animal Model
    16. Brief Clinical Reports
    17. Articles
    18. Letter to the Editors
    1. Hypotrichosis with spondyloepimetaphyseal dysplasia in three generations: A new autosomal dominant syndrome (pages 288–291)

      Michael P. Whyte, Deborah J. Petersen and William H. McAlister

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320360308

    2. Fibular hypoplasia and complex brachydactyly (Du Pan Syndrome) in an inbred Pakistani kindred (pages 292–296)

      Mahmud Ahmad, Hasan Abbas, Abdul Wahab and Sayedul Haque

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320360309

  8. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. New Syndrome
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Animal Model
    14. Articles
    15. Animal Model
    16. Brief Clinical Reports
    17. Articles
    18. Letter to the Editors
    1. Restrictive dermopathy with distinct morphological abnormalities (pages 297–300)

      Marie-Rose van Hoestenberghe, Eric Legius, Wim Vandevoorde, Albert Eykens, Jaak Jaeken, Ephrem Eggermont, Rita Devos, Chris De Wolf-Peeters and Jean-Pierre Fryns

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320360310

  9. Articles

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. New Syndrome
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Animal Model
    14. Articles
    15. Animal Model
    16. Brief Clinical Reports
    17. Articles
    18. Letter to the Editors
    1. Percent transferrin saturation in segregating hemochromatosis (pages 301–305)

      I. B. Borecki, D. C. Rao, J. Yaouanq and J. M. Lalouel

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320360311

  10. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. New Syndrome
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Animal Model
    14. Articles
    15. Animal Model
    16. Brief Clinical Reports
    17. Articles
    18. Letter to the Editors
    1. Holoprosencephaly in an infant with a minute deletion of chromosome 21(q22.3) (pages 306–309)

      Laurel L. Estabrooks, Dr. Kathleen W. Rao, Roger P. Donahue and Arthur S. Aylsworth

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320360312

  11. Articles

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. New Syndrome
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Animal Model
    14. Articles
    15. Animal Model
    16. Brief Clinical Reports
    17. Articles
    18. Letter to the Editors
    1. Trisomy 20q caused by der (X)t(X;20)(q28;q11.2) (pages 310–312)

      Dr. Jonathan J. Waters, David S. Gourley, David A. Aitken and B. C. Clare Davison

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320360313

    2. De novo direct Tandem duplication of the short arm of chromosome 7(p21.1-p14.2) (pages 316–320)

      Maria Dȩbiec-Rychter, Joan Overhauser, Bogdan Kałuźewski, Lucjusz Jakubowski, Barbara Truszczak, Wesley Wilson, Maria Skorski and Laird Jackson

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320360315

  12. Animal Model

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

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. New Syndrome
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Animal Model
    14. Articles
    15. Animal Model
    16. Brief Clinical Reports
    17. Articles
    18. Letter to the Editors
    1. Proximal interstitial deletion of 7q: A case report and review of the literature (pages 328–332)

      Joleen L. Zackowski, Leslie J. Raffel, Carol A. Blank and Stuart Schwartz

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320360317

    2. Frequency of congenital heart defects in patients with hemophilia (pages 333–335)

      Kerry B. Jedele, Virginia V. Michels, Hymie Gordon and Gerald S. Gilchrist

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320360318

  14. Animal Model

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. New Syndrome
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Animal Model
    14. Articles
    15. Animal Model
    16. Brief Clinical Reports
    17. Articles
    18. Letter to the Editors
    1. Overo lethal white foal syndrome: Equine model of aganglionic megacolon (Hirschsprung disease) (pages 336–340)

      Linda McCabe, Lisa D. Griffin, Andrew Kinzer, Marge Chandler, J. Bruce Beckwith and Dr. Edward R. B. McCabe

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320360319

  15. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. New Syndrome
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Animal Model
    14. Articles
    15. Animal Model
    16. Brief Clinical Reports
    17. Articles
    18. Letter to the Editors
    1. Acheiropodia: Report on four new Brazilian patients (pages 341–344)

      A. C. Fett-Conte and A. Richieri-Costa

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320360320

  16. Articles

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. New Syndrome
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Animal Model
    14. Articles
    15. Animal Model
    16. Brief Clinical Reports
    17. Articles
    18. Letter to the Editors
    1. Temperament in Williams syndrome (pages 345–352)

      Susan A. Tomc, Nancy K. Williamson and Dr. Richard M. Pauli

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320360321

    2. Nager anomaly with severe facial involvement, microcephaly, and mental retardation (pages 356–357)

      Dr. A. Palomeque, X. Pastor and F. Ballesta

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320360323

    3. Distal 12p deletion in a stillborn infant (pages 358–360)

      A. Baroncini, C. Avellini, C. Neri and Prof. A. Forabosco

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320360324

  17. Letter to the Editors

    1. Top of page
    2. Masthead
    3. Brief Clinical Reports
    4. Articles
    5. New Syndrome
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Brief Clinical Reports
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Animal Model
    14. Articles
    15. Animal Model
    16. Brief Clinical Reports
    17. Articles
    18. Letter to the Editors
    1. Penile enlargement in 3q23-q25 deletion syndrome (page 361)

      Kamal K. Naguib, Sadika A. Al-Awadi, T. I. Farag and Fawziyah M. Mohammed

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320360325

    2. Reply to Naguib et al. (page 362)

      Monica Alvarado

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320360326

    3. Terminal deletion of 6q and Fryns syndrome: A microdeletion/syndrome pair? (pages 363–364)

      Natalie Krassikoff and Gurbax S. Sekhon

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320360327

    4. Isochromosome Xq in Klinefelter syndrome (page 365)

      Dr. Jean-Pierre Fryns, Alice Kleczkowska and Omer Steeno

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320360328

    5. Response to Fryns et al.: Isochromosome Xq in Klinefelter syndrome (page 366)

      Claude-Lise Richer

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320360329

    6. Bilateral ankylosed thumbs and mental retardation (page 367)

      Nancy D. Barber, Nancy J. Carpenter and Burhan Say

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320360330

    7. Reply to Dr. Hall (page 370)

      Charles A. Williams

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320360333

    8. Muscle-eye-brain disease and Walker-Warburg syndrome (pages 371–372)

      Pirkko Santavuori, Helena Pihko, Kimmo Sainio, Marjatta Lappi, Hannu Somer, Matti Haltia, Christina Raitta, Leena Ketonen and Jaakko Leisti

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320360334

    9. Response to Santavuori et al. regarding Walker-Warburg syndrome and muscle-eye-brain disease (pages 373–374)

      William B. Dobyns, Roberta A. Pagon, Cynthia J. R. Curry and Frank Greenberg

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320360335

    10. New syndrome (page 375)

      Meinhard Robinow and Frits A. Beemer

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320360336

    11. Cheek dimples (page 376)

      Hans-Rudolf Wiedemann

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320360337

    12. Prevalence of lethal osteochondrodysplasias (pages 377–378)

      Jan M. Cobben, Martina C. Cornel, Irene Dijkstra and Leo P. Ten Kate

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320360338

    13. Mosaic normal/unbalanced karyotype and recurrent fetal wastage (page 379)

      Alice Kleczkowska and Jean-Pierre Fryns

      Version of Record online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320360339

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