American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

15 June 1993

Volume 46, Issue 5

Pages fmi–fmi, 479–613

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. Letter to the Editors
    1. Masthead (page fmi)

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320460501

  2. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Letter to the Editors
    1. Congenital defects of the limbs in stillbirths: Data from a population-based study (pages 479–482)

      Dr. Ursula G. Froster and Patricia A. Baird

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460502

    2. Terminal transverse limb defects and early chorionic villus sampling: Evaluation of 4,300 cases with completed follow-up (pages 483–485)

      Milena G. J. Jahoda, Helen Brandenburg, Titia Cohen-Overbeek, Frans J. Los, Eva S. Sachs and Juriy W. Wladimiroff

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460503

    3. Genetic epidemiological studies of early-onset deafness in the U.S. school-age population (pages 486–491)

      Mary L. Marazita, Lynn M. Ploughman, Brenda Rawlings, Elizabeth Remington, Kathleen S. Arnos and Walter E. Nance

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460504

    4. Inverted insertion of chromosome 7q and ectrodactyly (pages 492–493)

      Kenji Naritomi, Yoshinori Izumikawa, Takaya Tohma and Kiyotake Hirayama

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460505

    5. Amniotic band sequence and limb defects: Data from a population-based study (pages 497–500)

      Dr. Ursula G. Froster and Patricia A. Baird

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460507

    6. Aarskog syndrome: Report of a family with review and discussion of nosology (pages 501–509)

      Dr. Ahmad S. Teebi, J. K. Rucquoi and M. S. Meyn

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320460508

    7. Hematologic abnormalities in children with down syndrome (pages 510–512)

      Nancy J. Roizen and Anthony P. Amarose

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460509

    8. Mosaic tetrasomy 8p (pages 513–516)

      Dr. Dale Newton, Lyn Hammond, John Wiley and Theodore Kushnick

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460510

  3. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Letter to the Editors
    1. Mosaic isochromosome 8p (pages 517–519)

      David J. Tilstra, Marcia Grove, Anne C. Spencer, Thomas H. Norwood and Roberta A. Pagon

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460511

  4. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Letter to the Editors
    1. Precise mapping of a de novo duplication 18(q21[RIGHTWARDS ARROW]q22) utilizing cytogenetic, biochemical, and molecular techniques (pages 520–523)

      Daynna J. Wolff, Marcia F. Schwartz, Maimon M. Cohen and Stuart Schwartz

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460512

    2. Reproductive risk in mating between two translocation carriers: Case report and review of the literature (pages 524–528)

      Kazushiro Tsuji, Kouji Narahara, Yuji Yokoyama, Shinsuke Ninomiya, Suguru Yonesawa, Yuji Hiramatsu, Hiroshi Masaoka, Naofumi Kudo and Yoshiki Seino

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320460513

    3. Incontinentia pigmenti achromians (hypomelanosis of ITO, MIM 146150): Further evidence of localization at Xp11 (pages 529–533)

      Célia P. Koiffmann, Deise H. de Souza, Aron Diament, Heloisa B. Ventura, Rosana S. Alves, Sonia Kihara and Anita Wajntal

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460514

    4. Mild mandibulofacial dysostosis in a child with a deletion of 3p (pages 534–536)

      Pamela Hawks Arn, Carl Mankinen and Ethylin W. Jabs

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320460515

    5. Two consecutive hydrolethalus syndrome-affected pregnancies in a nonconsanguinous black couple: Discussion of problems in prenatal differential diagnosis of midline malformation syndromes (pages 537–541)

      Peter G. Pryde, Faisal Qureshi, Mordechai Hallak, William Kupsky, Mark P. Johnson and Mark I. Evans

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460516

    6. Origin of extraembryonic mesoderm in experimental animals: Relevance to chorionic mosaicism in humans (pages 542–550)

      Diana W. Bianchi, Louise E. Wilkins-Haug, Allen C. Enders and Elizabeth D. Hay

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320460517

    7. Congenital heart disease associated with sporadic Kallmann syndrome (pages 551–554)

      Alan B. Cortez, Alvaro Galindo, Frederick W. Arensman and Cornelis van Dop

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460518

    8. Macrosomia, obesity, macrocephaly and ocular abnormalities (MOMO syndrome) in two unrelated patients: Delineation of a newly recognized overgrowth syndrome (pages 555–558)

      Danilo Moretti-Ferreira, Célia P. Koiffmann, Márcia Listik, Nuvarte Setian and Dr. Anita Wajntal

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460519

    9. Use of fluorescence in situ hybridization to confirm the interpretation of a balanced complex chromosome rearrangement ascertained through prenatal diagnosis (pages 559–562)

      Hungshu Wang, Margaret McLaughlin, Calvin Thompson and Alasdair G. W. Hunter

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460520

    10. Fingernail angle in girls with Ullrich-Turner syndrome (pages 570–573)

      Paul B. Kaplowitz, Steven D. Chernausek and Jo Ann Horn

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460522

    11. Autosomal dominant tetramelic postaxial oligodactyly (pages 579–583)

      Eric A. Wulfsberg, Laura J. Mirkinson and Steven J. Meister

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460524

    12. Proliferation and collagen biosynthesis of osteoblasts and chondrocytes in short rib syndrome type beemer (pages 584–591)

      Rolf E. Brenner, Andreas Nerlich, Frank Kirchner, Martin Mörike, Rainer Terinde and Walter M. Teller

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320460525

    13. Oculocerebral hypopigmentation syndrome associated with Bartter syndrome (pages 592–596)

      Dr. C. P. White, M. Waldron, J. E. Jan and J. E. Carter

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460526

    14. Complete and partial XY sex reversal associated with terminal deletion of 10q: Report of 2 cases and literature review (pages 597–600)

      Dr. A. O. M. Wilkie, F. M. Campbell, P. Daubeney, D. B. Grant, R. J. Daniels, M. Mullarkey, N. A. Affara, M. Fitchett and S. M. Huson

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460527

  5. Letter to the Editors

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Letter to the Editors
    1. Transposon-like element in the dystrophin gene (page 601)

      Dr. Mayana Zatz, Maria Rita Passos-Bueno and Mariz Vainzof

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460528

    2. Reply to Dr. Zatz: Transposon-like element in the dystrophin gene (page 602)

      C. Thomas Caskey

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460529

    3. Trisomy 8 and trisomy 9 are distinctly different clinical entities (pages 603–604)

      Albert Schinzel

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460530

    4. Erratum (page 605)

      Dr. María I. de Michelena

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460531

    5. Further delineation of the Simpson-Golabi-Behmel (SGB) syndrome (page 606)

      Angela E. Lin

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460532

    6. Reply to Dr. Lin: Dilated cardiomyopathy in the SGB syndrome (page 607)

      Dr. Giovanni Neri and Fiorella Gurrieri

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460533

    7. Gene for Waardenburg syndrome type I is located at 2q35, not at 2q37.3 (page 608)

      Satoshi Ishikiriyama

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460534

    8. Germinal mosaicism in oculo-auriculo-vertebral dysplasia? (pages 609–610)

      Didier Locombe and Jacques Battin

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460535

    9. Periconceptional multivitamin supplementation and nonneural midline defects (page 611)

      Dr. Andrew Czeizel

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460536

    10. Abdominal ultrasound scan in Down Syndrome patients: High frequency of nonsymptomatic biliary tract disease (page 612)

      Dr. Juan C. Llerena Jr., Raquel Boy, João Barbosa Neto, Fernando Vargas, Clarisse Fontana, José Carlos Cabral de Almeida, Marcia C. B. de Oliveira, Paulo Roberto Boechat and Zan Mustacchi

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460537

    11. What's in a Name? (page 613)

      Murray Feingold

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320460538

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