American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

1 June 1993

Volume 46, Issue 4

Pages fmi–fmi, 355–478

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. Annotaions
    6. Articles
    7. Brief Clinical Report
    8. Articles
    9. Brief Clinical Report
    10. Articles
    11. Letter to the Editors
    1. Masthead (page fmi)

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460401

  2. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Annotaions
    6. Articles
    7. Brief Clinical Report
    8. Articles
    9. Brief Clinical Report
    10. Articles
    11. Letter to the Editors
    1. New form of spondyloepimetaphyseal dysplasia (SEMD) in Jewish family of Iraqi Origin (pages 358–362)

      M. Shohat, R. Lachman, R. Carmi, J. Bar Ziv and D. Rimoin

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460403

    2. Mental retardation locus in Xp21 chromosome microdeletion (pages 363–368)

      Melissa H. Fries, Roger V. Lebo, Steven A. Schonberg, Mahin Golabi, William K. Seltzer, Stephen E. Gitelman and Mitchell S. Golbus

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320460404

    3. Alopecia universalis as a single abnormality in an inbred Pakistani kindred (pages 369–371)

      Mahmud Ahmad, Hasan Abbas and Sayedul Haque

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460405

    4. Study of isolated apparent amniogenic limb deficiency in Hungary, 1975–1984 (pages 372–378)

      Andrew E. Czeizel, Márta Vitéz, Imre Kodaj and Widukind Lenz

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460406

    5. Preaxial acrofacial dysostosis (Nager syndrome) associated with an inherited and apparently balanced X;9 translocation: Prenatal and postnatal late replication studies (pages 379–383)

      Roberto T. Zori, Brian A. Gray, Angela Bent-Williams, Daniel J. Driscoll, Charles A. Williams and Joleen L. Zackowski

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460407

  3. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Annotaions
    6. Articles
    7. Brief Clinical Report
    8. Articles
    9. Brief Clinical Report
    10. Articles
    11. Letter to the Editors
    1. Isochromosome 18p in a mother and her child (pages 392–393)

      Dr. Dvorah Abeliovich, Judith Dagan, Alina Levy, Avraham Steinberg and Joel Zlotogora

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460409

    2. Pseudoaminopterin syndrome (pages 394–397)

      Dr. Alain Verloes, Guy Bricteux and Lucien Koulischer

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460410

  4. Annotaions

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Annotaions
    6. Articles
    7. Brief Clinical Report
    8. Articles
    9. Brief Clinical Report
    10. Articles
    11. Letter to the Editors
  5. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Annotaions
    6. Articles
    7. Brief Clinical Report
    8. Articles
    9. Brief Clinical Report
    10. Articles
    11. Letter to the Editors
    1. Hirsutism–skeletal dysplasia–mental retardation syndrome with abnormal face and a uric acid metabolism disorder (pages 403–409)

      Professor DR. Med. Drs. h.c. Hans-Rudolf Wiedemann, Hans-Dieter Oldigs, Hans-Conrad Oppermann and Oskar Oster

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460412

    2. Oral zinc therapy in the treatment of α-mannosidosis (pages 410–414)

      Lawrence T. K. Wong, Hilary Vallance, Angela Savage, A. G. F. Davidson and Derek Applegarth

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460413

    3. Effect of fragile X on physical and intellectual traits estimated by pedigree analysis (pages 415–422)

      Danuta Z. Loesch, Richard M. Huggins and Wai Fong Chin

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460414

    4. Pattern of cardiac malformation in oculoauriculovertebral spectrum (pages 423–426)

      Anil Kumar, J. M. Friedman, Glenn P. Taylor and Michael W. H. Patterson

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460415

    5. Causal study of isolated ulnar-fibular deficiency in Hungary, 1975–1984 (pages 427–433)

      Andrew E. Czeizel, Márta Vitéz, Imre Kodaj and Widukind Lenz

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320460416

    6. Confirmation of trisomy 22 in two cases using chromosome painting: Comparison with t(11;22) (pages 434–437)

      H. R. Slater, L. E. Voullaire, C. E. Vaux, A. Bankier, M. Pertile and K. H. A. Choo

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460417

  6. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Annotaions
    6. Articles
    7. Brief Clinical Report
    8. Articles
    9. Brief Clinical Report
    10. Articles
    11. Letter to the Editors
    1. Interstitial deletion of chromosome 10, del(10) (q11.2q22.1) in a boy with developmental delay and multiple congenital anomalies (pages 438–440)

      Julie L. Zenger-Hain, Jacquelyn Roberson, Daniel L. Van Dyke and Lester Weiss

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460418

  7. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Annotaions
    6. Articles
    7. Brief Clinical Report
    8. Articles
    9. Brief Clinical Report
    10. Articles
    11. Letter to the Editors
    1. Absence of chromosome fragility at 19q13.3 in patients with myotonic dystrophy (pages 441–443)

      S. M. Jalal, N. M. Lindor, V. V. Michels, D. D. Buckley, D. A. Hoppe, G. Sarkar and G. W. Dewald

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320460419

    2. Newly recognized autosomal dominant disorder with craniosynostosis (pages 444–449)

      Matthew L. Warman, John B. Mulliken, Peter G. Hayward and Ulrich Müller

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460420

    3. Assessment of subcutaneous fat using ultrasonography in the Ullrich–Turner syndrome (pages 450–452)

      Dr. Takehike Ohzeki, Keiichi Hanaki, Hiroko Motozumi, Hiroko Ohtahara, Hiroshi Urashima and Kazuo Shiraki

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320460421

    4. Kohlschütter-Tönz syndrome: Epilepsy, dementia, and amelogenesis imperfecta (pages 453–454)

      Joël Zlotogora, Anna Fuks, Zvi Borochowitz and Yoram Tal

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460422

  8. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Annotaions
    6. Articles
    7. Brief Clinical Report
    8. Articles
    9. Brief Clinical Report
    10. Articles
    11. Letter to the Editors
    1. E. coli sepsis as a presenting sign in neonatal propionic acidemia (pages 455–456)

      Steven L. Werlin

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460423

  9. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Annotaions
    6. Articles
    7. Brief Clinical Report
    8. Articles
    9. Brief Clinical Report
    10. Articles
    11. Letter to the Editors
    1. Monitoring for new multiple congenital anomalies in the search for human teratogens (pages 460–466)

      Muin J. Khoury, Lorenzo Botto, Grady D. Waters, Pierpaolo Mastroiacovo, Eduardo Castilla and J. David Erickson

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460425

    2. Steinfeld syndrome: Report of a second family and further delineation of a rare autosomal dominant disorder (pages 467–470)

      Dr. Markus M. Nöthen, Gisela Knöpfle, Hans-Jörg Födisch and Klaus Zerres

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460426

    3. Caroline Crachami, the Sicilian Fairy: A further note (page 471)

      Jan Bondeson

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460427

    4. Exclusion of the neurofibromatosis 1 locus in a family with inherited café-au-lait spots (pages 472–474)

      Han G. Brunner, Theo Hulsebos, Peter M. Steijlen, Daan J. der Kinderen, A. v.d. Steen and Ben C. J. Hamel

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460428

  10. Letter to the Editors

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Annotaions
    6. Articles
    7. Brief Clinical Report
    8. Articles
    9. Brief Clinical Report
    10. Articles
    11. Letter to the Editors
    1. Cytomegalic type of congenital adrenal hypoplasia due to autosomal recessive inheritance (page 475)

      Dr. Gabriele Krüger, Monika Mix, Lothar Pelz and Helmut Dunker

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320460429

    2. Another case of spondylocostal dysplasia and severe anomalies (pages 476–477)

      Angela E. Lin and Gerald A. Harster

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460430

    3. Position statement on interphase in situ hybridization prenatal diagnosis (page 478)

      Dr. Herbert A. Lubs, Louis J. Elsas II, Avirachan T. Tharapel, Philip D. Buchanan, Wayne H. Finley, Carmen B. Lozzio and Mary Z. Pelias

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460431

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