American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

1 July 1993

Volume 46, Issue 6

Pages fmi–fmi, 615–744

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. NICHD Conference
    7. Articles
    8. Letter to the Editors
    9. Articles
    1. Masthead (page fmi)

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460601

  2. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. NICHD Conference
    7. Articles
    8. Letter to the Editors
    9. Articles
    1. Cytogenetic findings of a child with transcobalamin II deficiency (pages 615–619)

      Gail H. Vance, Mark Moncino and Nyla A. Heerema

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460602

    2. Newly recognized blepharofacioskeletal Syndrome (pages 620–622)

      A. Richieri-Costa, M. L. Guion-Almeida, E. S. O. Rodini, S. C. S. Pereira and M. M. Cohen Jr.

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460603

    3. Clinical and molecular analyses of deletion 3p25-pter syndrome (pages 623–629)

      Philip N. Mowrey, Michael J. Chorney, Charles P. Venditti, Farida Latif, William S. Modi, Michael I. Lerman, Berton Zbar, David B. Robins, Peter K. Rogan and Roger L. Ladda

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460604

    4. Pericentric inversion of chromosome 6 in a patient with cleidocranial dysplasia (pages 630–631)

      Dr. H. Nienhaus, U. Mau, K. D. Zang and W. Henn

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460605

  3. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. NICHD Conference
    7. Articles
    8. Letter to the Editors
    9. Articles
    1. Case of ring chromosome 7: The first report of neuropathological findings (pages 632–635)

      Hiroko Tsukamoto, Norio Sakai, Masako Taniike, Mitsuto Nakatsukasa, Wataru Yoshiwara, Hiromi Sakamoto, Harutoshi Fujimura, Koji Inui and Shintaro Okada

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460606

  4. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. NICHD Conference
    7. Articles
    8. Letter to the Editors
    9. Articles
    1. Brachydactylous dwarfs of Mseleni (pages 636–640)

      Dr. Denis Viljoen, Victor Fredlund, Raj Ramesar and Peter Beighton

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460607

    2. Decrease in thyrocalcitonin-containing cells and analysis of other congenital anomalies in 11 patients with DiGeorge anamaly (pages 641–646)

      José Palacios, Carlos Gamallo, Marcial García and Dr. José Ignacio Rodríguez

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460608

    3. Unbalanced translocation, t(18;21), detected by fluorescence in situ hybridization (FISH) in a child with 18q– syndrome and a ring chromosome 21 (pages 647–651)

      Matthew J. McGinniss, Carla Rosenberg, Gail Stetten, Albert A. Schinzel, Franz Binkert, Michael B. Petersen, William G. Kearns, Haig H. Kazazian Jr., Peter L. Pearson and Stylianos E. Antonarakis

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460609

    4. Prenatal in situ hybridization test for deleted steroid sulfatase gene (pages 652–658)

      Roger V. Lebo, Eric D. Lynch, Mitchell S. Golbus, Robert R. Flandermeyer, Pauline H. Yen and Larry J. Shapiro

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460610

    5. Mandibulofacial dysostosis: Report on two Brazilian families suggesting autosomal recessive inheritance (pages 659–664)

      A. Richieri-Costa, M. A. Bortolozo, J. R. P. Lauris, R. C. M. C. Lauris, M. L. Guion-Almeida, D. Marques and D. Moreti

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460611

    6. DNA analysis of cystic fibrosis in Brazil by direct PCR amplification from Guthrie cards (pages 665–669)

      S. Raskin, J. A. Phillips III, M. R. S. Krishnamani, C. Vnencak-Jones, R. A. Parker, T. Rozov, J. M. Cardieri, P. Marostica, F. Abreu, R. Giugliani, F. Reis, N. A. Rosario, N. Ludwig and R. F. Pilotto

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320460612

    7. Uniparental disomy revisited: The first twelve years (pages 670–674)

      Eric Engel

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460613

  5. NICHD Conference

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. NICHD Conference
    7. Articles
    8. Letter to the Editors
    9. Articles
    1. Genomic imprinting: Summary of an NICHD conference (pages 675–680)

      Golder N. Wilson, Judith G. Hall and Felix de la Cruz

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460614

    2. Robertsonian translocations: Clues to imprinting (pages 681–682)

      Dian Donnai

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320460615

    3. Genomic imprinting: Consequences of uniparental disomy for human disease (pages 683–684)

      Dr. Albert Schinzel

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460616

    4. Role of DNA methylation in X inactivation and the fragile X syndrome (pages 685–686)

      Dr. Barbara R. Migeon

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460617

  6. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. NICHD Conference
    7. Articles
    8. Letter to the Editors
    9. Articles
    1. Regional mapping of the gene for familial Mediterranean fever on human chromosome 16p13 (pages 689–693)

      Nathan Fischel-Ghodsian, Xiangdong Bu, Toni R. Prezant, Sitki Oeztas, Zhi-Shen Huang, M. Charlotte Bohlman, Jerome I. Rotter and Mordechai Shohat

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320460619

    2. Acalvaria: A unique congenital anomaly (pages 694–699)

      Cheryl P. Harris, Jeannette J. Townsend and John C. Carey

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460620

    3. No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome families (pages 700–705)

      Wayne F. Flintoff, Michel Bahuau, Stanislas Lyonnet, Simone Gilgenkrantz, Didier Lacombe, François Marçon, Jacqueline Levilliers, Jean Kachaner, Arnold Munnich and Martine Le Merrer

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460621

    4. Brain magnetic resonance imaging findings in the Opitz G/BBB syndrome: Extension of the spectrum of midline brain anomalies (pages 706–711)

      Madeleine R. MacDonald, G. Bradley Schaefer, Ann Haskins Olney, Marta Tamayo and Jaime L. Frías

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460622

    5. Frontonasal dysplasia in two successive generations (pages 712–714)

      Julie S. Fryburg, John A. Persing and Kant Y. Lin

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320460623

    6. Moving satellites and unstable chromosome translocations: Clinical and cytogenetic implications (pages 715–720)

      Dr. S. A. Farrell, E. J. T. Winsor and V. D. Markovic

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460624

    7. Congenital nonprogressive myopathy with Möbius and Robin sequence—the Carey-Fineman-Ziter syndrome: A confirmatory report (pages 721–723)

      Dr. R. Neil Schimke, Debra L. Collins and John M. Hiebert

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460625

    8. Is visual field reduction a component manifestation of osteopathia striata with cranial sclerosis? (pages 724–726)

      Maurizio Clementi, Silvano Bellato, Alberto Rossetti, Isabella Mammi and Romano Tenconi

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460626

  7. Letter to the Editors

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. NICHD Conference
    7. Articles
    8. Letter to the Editors
    9. Articles
    1. Unusual fingerprint patterns in Smith-Fineman-Myers syndrome (page 727)

      Terry Reed

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320460627

    2. Unusual complex of congenital malformations (pages 728–729)

      Tatjana Zolotukhina, Michail Kuznetsov, Dr. Iosif Lurie and Helena Ilyina

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460628

    3. Thrombocytopenia in the Brachmann-de Lange syndrome (pages 730–731)

      Dr. Ursula G. Froster and L. Gortner

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460629

    4. On Saraiva and Baraitser and Joubert syndrome: A review (page 732)

      Dr. M. di Rocco

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320460630

    5. Joubert syndrome with retinal dystrophy and renal cysts: Reply to Dr. Di Rocco (page 733)

      Michael Baraitser

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320460631

    6. Earliest illustration of an aortic aneurysm by Albrecht von Haller (pages 734–735)

      Beat Steinmann

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460632

    7. Axial mesodermal dysplasia spectrum: Variable symptoms in affected sibs (page 736)

      Dr. Jean-Pierre Fryns, Philippe J. Remans and Guy Fabry

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460633

  8. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. NICHD Conference
    7. Articles
    8. Letter to the Editors
    9. Articles
    1. Supravalvular aortic stenosis cosegregates with a familial 6;7 translocation which disrupts the elastin gene (pages 737–744)

      Colleen A. Morris, James Loker, Gregory Ensing and A. Dean Stock

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320460634

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