American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

15 July 1992

Volume 43, Issue 5

Pages fmi–fmi, 769–912

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. Articles
    10. Brief Clinical Report
    11. Articles
    12. Letter to the Editor
    13. Articles
    1. Masthead (page fmi)

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320430501

  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. Articles
    10. Brief Clinical Report
    11. Articles
    12. Letter to the Editor
    13. Articles
    1. Consanguineous marriage in Jordan (pages 769–775)

      Dr. S. A. Khoury and D. Massad

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320430502

    2. Late-onset localized junctional epidermolysis bullosa and mental retardation: A distinct autosomal recessive syndrome (pages 776–779)

      Sasson Nakar, Arieh Ingber, Israel Kremer, Emmilia Hodak, Ben-Zion Garty, Eitan Ben-David, Michael David and Mordechai Shohat

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320430503

    3. Poland anomaly with a limb body wall disruption defect: Case report and review (pages 780–784)

      J. Stephen Bamforth, Clifford Fabian, Geoffrey Machin and Louis Honore

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320430504

    4. Dominant syndrome with isolated cryptophthalmos and ocular anomalies (pages 785–788)

      Howard M. Saal, Elias I. Traboulsi, Paul Gavaris, Carole A. Samango-Sprouse and Marshall Parks

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320430505

    5. Autosomal recessive acrorenal syndrome (pages 789–790)

      Miklós Miltényi, Andrew E. Czeizel, Lidia Balogh and Zoltán Detre

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320430506

    6. Pericentric inversion of chromosome 16 in a large kindred: Spectrum of morbidity and mortality in offspring (pages 791–795)

      Diana W. Bianchi, Robert D. Nicholls, Kathryn A. Russell, Wayne A. Miller, Marvin Ellin and Janice M. Lage

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320430507

  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. Articles
    10. Brief Clinical Report
    11. Articles
    12. Letter to the Editor
    13. Articles
    1. Platelet dysfunction in a patient with the Opitz (BBBG) syndrome (pages 796–798)

      Rohit Kapoor and George M. Rodgers

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320430508

  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. Articles
    10. Brief Clinical Report
    11. Articles
    12. Letter to the Editor
    13. Articles
    1. New syndrome? Basal cell carcinomas, coarse sparse hair, and milia (pages 799–804)

      Christine A. Oley, Helen Sharpe and Dr. Georgia Chenevix-Trench

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320430509

    2. TAR-like syndrome in a consanguineous Mayan girl (pages 805–807)

      Jose M. Ceballos-Quintal, Doris Pinto-Escalante and Renan A. Gongora-Biachi

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320430510

  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. Articles
    10. Brief Clinical Report
    11. Articles
    12. Letter to the Editor
    13. Articles
    1. Aarskog syndrome in a brazilian boy born to consanguineous parents (pages 808–810)

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

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320430511

  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. Articles
    10. Brief Clinical Report
    11. Articles
    12. Letter to the Editor
    13. Articles
    1. Renal tubular dysgenesis: A not not uncommon autosomal recessive syndrome: A review (pages 811–814)

      Judith E. Allanson, Alasdair G. W. Hunter, Gabrielle S. Mettler and Carmencita Jimenez

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320430512

    2. Neurofibromatosis 1 and osseous fibrous dysplasia in a family (pages 815–822)

      Helena M. Schotland, Roswell Eldridge, Steve S. Sommer and Martin Malawar

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320430513

    3. Sparse hair and multiple endocrine disorders in two women heterozygous for adrenoleukodystrophy (pages 829–832)

      Professor Miro Dumic, Nikola Gubarev, Nada Sikic, Adelbert Roscher, Vesna Plavsic and Boris Filipovic-Grcic

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320430515

    4. Combined Goltz and Aicardi syndromes in a terminal Xp deletion: Are they a contiguous gene syndrome? (pages 839–843)

      Kenji Naritomi, Yoshinori Izumikawa, Shigetoshi Nagataki, Yoshimitsu Fukushima, Keiko Wakui, Norio Niikawa and Kiyotake Hirayama

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320430517

    5. New mental retardation syndrome with hearing impairment, distinct facial appearance, and skeletal anomalies (pages 844–847)

      Brenda Finucane, Michael B. Kurtz and Charles I. Scott Jr.

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320430518

    6. Prenatal diagnosis with repetitive in situ hybridization probes (pages 848–854)

      Roger V. Lebo, Robert R. Flandermeyer, Rony Diukman, Eric D. Lynch, Jacques A. Lepercq and Mitchell S. Golbus

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320430519

  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. Articles
    10. Brief Clinical Report
    11. Articles
    12. Letter to the Editor
    13. Articles
    1. Membranoproliferative glomerulonephritis in a child with Prader-Willi syndrome (pages 858–859)

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

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320430521

    2. New distinct lethal osteosclerotic bone dysplasia (Raine syndrome) (pages 860–864)

      Dr. A. E. Kan and K. Kozlowski

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320430522

  8. 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. Articles
    10. Brief Clinical Report
    11. Articles
    12. Letter to the Editor
    13. Articles
    1. Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions (pages 865–871)

      Ram K. Tripathi, Kathleen M. Strunk, Lutz B. Giebel, Richard G. Weleber and Richard A. Spritz

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320430523

    2. Cytogenetic, biochemical, and molecular analyses of a 22q13 deletion (pages 872–876)

      Mary C. Phelan, Gordon R. Thomas, Robert A. Saul, R. Curtis Rogers, Harold A. Taylor, David A. Wenger and Heather E. McDermid

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320430524

  9. 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. Articles
    10. Brief Clinical Report
    11. Articles
    12. Letter to the Editor
    13. Articles
    1. A severe case of mandibuloacral dysplasia in a girl (pages 877–881)

      Constance Schrander-Stumpel, Ann Spaepen, Dr. Jean-Pierre Fryns and Jan Dumon

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320430525

  10. 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. Articles
    10. Brief Clinical Report
    11. Articles
    12. Letter to the Editor
    13. Articles
    1. Hypoglossia-hypodactylia syndrome with jejunal atresia in an infant of a diabetic mother (pages 882–884)

      Albert David, Jean-Christophe Rozé, Sabine Rémond, Bernard Branger and Yves Héloury

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320430526

    2. Carrier detection and prenatal diagnosis of X-linked agammaglobulinemia (pages 885–887)

      O. Journet, A. Durandy, M. Doussau, F. Le Deist, J. Couvreur, C. Griscelli, A. Fischer and G. de Saint-Basile

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320430527

    3. Genetic evidence that Turcot syndrome is not allelic to familial adenomatous polyposis (pages 888–893)

      Carli M. J. Tops, Hans F. A. Vasen, Gerard van Berge Henegouwen, Peter P. Simoons, Heleen M. van de Klift, Inge S. J. van Leeuwen, Cor Breukel, Riccardo Fodde, Frieda C. A. den Hartog Jager, Fokko M. Nagengast, Gerrit Griffioen and P. Meera Khan

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320430528

  11. Letter to the Editor

    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. Articles
    10. Brief Clinical Report
    11. Articles
    12. Letter to the Editor
    13. Articles
    1. Growth hormone subnormality in down syndrome (pages 894–895)

      Letizia Ragusa, Corrado Romano, Pinella Failla, Caterina Proto and Fabio Colabucci

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320430529

    2. X-linked nystagmus and 45,X/46,XX mosaicism (page 896)

      A. Caroline Berry and Dr. Zoe Docherty

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320430530

    3. Congenital nystagmus in a [46,XX/45,X] Mosaic woman from a damily with X-linked congenital nystagmus (page 897)

      David H. Gutmann, Dr. Elaine H. Zackai and Beverly S. Emanuel

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320430531

    4. History of C-patient with SC-Roberts/Pseudothalidamide syndrome (pages 898–899)

      Dr. Murray Feingold

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320430532

    5. Congenital heart defect in a japanese girl with Adams-Oliver syndrome: One of the most important complications (pages 900–901)

      Satoshi Ishikiriyama, Bunsho Kaou, Akikazu Udagawa and Koichiro Niwa

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320430533

    6. Orofaciodigital syndrome type IV: Report of a patient (pages 902–904)

      Norman C. Nevin, Alex C. Magee, V. Mudenda and Paul S. Thomas

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320430534

  12. 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. Articles
    10. Brief Clinical Report
    11. Articles
    12. Letter to the Editor
    13. Articles
    1. A reinvestigation of thirty three fragile(X) families using probe StB12.3 (pages 905–912)

      James Macpherson, John Harvey, Greta Curtis, Tessa Webb, Dominique Heitz, Francois Rousseau and Patricia Jacobs

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320430535

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