American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

15 September 1993

Volume 47, Issue 4

Pages fmi–fmi, 451–574

Currently known as: American Journal of Medical Genetics Part A

  1. Masthead

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

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470401

  2. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. New Syndrome
    10. Articles
    11. Brief Clinical Report
    12. Articles
    13. Brief Clinical Report
    14. Articles
    15. Letter to the Editors
    1. Váradi syndrome (OFD VI) or opitz trigonocephaly syndrome: Overlapping manifestations in two cousins (pages 451–455)

      Roxana Cleper, Arieh Kaushchansky, Itzbak Varsano and Moshe Frydman

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470402

    2. Is there a relationship between inborn errors of metabolism and extensive mongolian spots? (pages 456–457)

      Heirie Miriam Marques Mendez, Laís Izabel Borges Pinto, Giorgio Adriano Paskulin and NÉLson Ricachnevsky

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320470403

    3. Evaluation of families wherein a single male manifests a phenotype of X-linked lymphoproliferative disease (XLP) (pages 458–463)

      Helen L. Grierson, James Skare, Joseph Church, Teresa Silberman, Jack R Davis, Nathan Kobrinsky, Rebert McGregor, Sara Israels, James McCarty, Lucy G. Andrews, Timothy Blecha, Steve Erdman, Angela Obringer, David Scharnhorst and David T. Purtilo

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320470404

  3. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. New Syndrome
    10. Articles
    11. Brief Clinical Report
    12. Articles
    13. Brief Clinical Report
    14. Articles
    15. Letter to the Editors
    1. The Williams syndrome: Evidence for possible autosomal dominant inheritance (pages 468–470)

      Laurie S. Sadler, Luther K. Robinson, Kathleen R. Verdaasdonk and Rebert Gingell

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470406

  4. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. New Syndrome
    10. Articles
    11. Brief Clinical Report
    12. Articles
    13. Brief Clinical Report
    14. Articles
    15. Letter to the Editors
    1. Metacarpophalangeal pattern profile analysis in Williams syndrome (pages 471–474)

      Michele A. Burns, D. Ross McLeod, L. R. Linton and Merlin G. Butler

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470407

  5. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. New Syndrome
    10. Articles
    11. Brief Clinical Report
    12. Articles
    13. Brief Clinical Report
    14. Articles
    15. Letter to the Editors
    1. Williams–Beuren syndrome in monozygotic twins with variable expresion (pages 475–477)

      Rainer Pankau, Angela Gosch, Eva Simeoni and Armin Wessel

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470408

  6. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. New Syndrome
    10. Articles
    11. Brief Clinical Report
    12. Articles
    13. Brief Clinical Report
    14. Articles
    15. Letter to the Editors
    1. Williams syndrome: Autosomal dominant inheritance (pages 478–481)

      Colleen A. Morris, Ioan T. Thomas and Frank Greenberg

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470409

    2. Inverted duplication of 8p: Ten new patients and review of the literature (pages 482–486)

      Gerald L. Feldman, Lester Weiss, Mary C. Phelan, Richard J. Schroer and Daniel L. VanDyke

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470410

  7. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. New Syndrome
    10. Articles
    11. Brief Clinical Report
    12. Articles
    13. Brief Clinical Report
    14. Articles
    15. Letter to the Editors
    1. X-inactivation pattern in an Ullrich–Turner syndrome patient with a small ring X and normal intelligence (pages 490–493)

      Julie L. Zenger-Hain, Anne Wiktor, Jose Goldman, Daniel L. Van Dyke and Lester Weiss

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470412

  8. New Syndrome

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. New Syndrome
    10. Articles
    11. Brief Clinical Report
    12. Articles
    13. Brief Clinical Report
    14. Articles
    15. Letter to the Editors
    1. Persistence of müllerian derivatives, lymphangiectasis, hepatic failure, postaxial polydactyly, renal and craniofacial anomalies (pages 494–503)

      Dr. Miguel Urioste, José I. Rodríguez, José M. Barcia, Martín Martín, Rosa Escribá, Marina Pardo, J. Camino and MaríA Luisá Martínez- Frías

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320470413

  9. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. New Syndrome
    10. Articles
    11. Brief Clinical Report
    12. Articles
    13. Brief Clinical Report
    14. Articles
    15. Letter to the Editors
    1. Clinical, cytogenetic, and molecular evidence for an infant with Smith–Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion (pages 504–511)

      Roberto T. Zori, James R. Lupski, Zhang Heju, Frank Greenberg, James M. Killian, Brian A. Gray, Daniel J. Driscoll, Pragna I. Patel and Joleen L. Zackowski

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470414

    2. Natural history of the recombinant (8) syndrome (pages 512–525)

      Eva Sujansky, Ann C. M. Smith, Karen E. Prescott, Cindy L. Freehauf, Carol Clericuzio and Arthur Robinson

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470415

  10. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. New Syndrome
    10. Articles
    11. Brief Clinical Report
    12. Articles
    13. Brief Clinical Report
    14. Articles
    15. Letter to the Editors
    1. Schwartz–Jampel syndrome: An atypical form? (pages 526–528)

      Luis E. Figuera, F. Javier Jimenez-Gil, M. Olga García-Cruz and Dr. José M. Cantú

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320470416

    2. Nonimmune hydrops fetalis in a 49,XXXXY fetus at 16 menstrual weeks (pages 529–530)

      Dr. Y. Hovav, M. Nadjari, J. Dagan, E. Kafka and H. Yaffe

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470417

  11. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. New Syndrome
    10. Articles
    11. Brief Clinical Report
    12. Articles
    13. Brief Clinical Report
    14. Articles
    15. Letter to the Editors
    1. Mosaic r(13) in an infant with aprosencephaly (pages 531–533)

      Claire L. Goldsmith, George F. Tawagi, Blair F. Carpenter, Marsha D. Speevak and Alasdair G. W. Hunter

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470418

  12. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. New Syndrome
    10. Articles
    11. Brief Clinical Report
    12. Articles
    13. Brief Clinical Report
    14. Articles
    15. Letter to the Editors
    1. Leukonychia totalis in two sibs (pages 540–541)

      Dr. Moshe Frydman and Hermann A. Cohen

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470420

  13. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. New Syndrome
    10. Articles
    11. Brief Clinical Report
    12. Articles
    13. Brief Clinical Report
    14. Articles
    15. Letter to the Editors
    1. Cincinnati myocardial infarction and hormone family study: Family resemblance for testosterone in random and MI families (pages 542–549)

      Treva Rice, Dennis L. Sprecher, Ingrid B. Borecki, Laura E. Mitchell, Peter M. Laskarzewski and D. C. Rao

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470421

    2. Congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment: A distinct syndrome (pages 550–555)

      Roger L. Ladda, Jonathan Zonana, Jeanette C. Ramer, Maria J. Mascari and Peter K. Rogan

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470422

    3. Malformations and minor anomalies in non-trisomic, autosomal aneuploidy (pages 556–558)

      Christopher Cunniff and Sandra K. Pope

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470423

    4. Tetrasomy 5p mosaicism in a boy with delayed growth, hypotonia, minor anomalies, and an additional isochromosome 5p [46,XY/47,XY, + i(5p)] (pages 559–562)

      Dr. Rolf H. Sijmons, Beike Leegte, Richard A. Van Lingen, Joke M. De Pater, Anneke Y. Van Der Veen, Harrij Del Canho, Carla Bos, Leo P. Ten Kate and Anton S. P. M. Breed

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470424

    5. Non-allelic heterogeneity of familial adenomatous polyposis (pages 563–567)

      Carli M. J. Tops, Heleen M. Van Der Klift, Rob B. Van Der Luijt, Gerrit Griffioen, Babs G. Taal, Hans F. A. Vasen and P. Meera Khan

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470425

  14. Letter to the Editors

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. New Syndrome
    10. Articles
    11. Brief Clinical Report
    12. Articles
    13. Brief Clinical Report
    14. Articles
    15. Letter to the Editors
    1. Human situs determination and chromosome constitution 46,XY,ins(7;8)(q22;q12q24) (pages 568–569)

      Célia P. Koiffmann, Anita Wajntal, Deise H. De Souza, Claudette H. Gonzalez and Maria Veronica Coates

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470426

    2. Syndrome of tetraamelia with pulmonary hypoplasia (pages 570–571)

      Joël Zlotogora, Michal Sagi, Yousef O. Shabany and Rashid Y. Jarallah

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320470427

    3. Richard M. Goodman Fellowship: A research fellowship in Jewish genetic diseases (page 572)

      Robert J. Desnick and Batsheva Bonne-Tamir

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470428

    4. Cholesterol defect in Smith-Lemli-Opitz syndrome (pages 573–574)

      G. S. Tint

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320470429

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