American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

1 February 1993

Volume 45, Issue 3

Pages fmi–fmi, 285–412

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. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Letter To The Editors
    11. Rapid Publications
    12. Articles
    13. Announcementss
    1. Masthead (page fmi)

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450301

  2. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Letter To The Editors
    11. Rapid Publications
    12. Articles
    13. Announcementss
    1. Marden-Walker phenotype: Spectrum of variability in three infants (pages 285–291)

      Jeanette C. Ramer, Carl A. Frankel and Roger L. Ladda

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450302

  3. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Letter To The Editors
    11. Rapid Publications
    12. Articles
    13. Announcementss
    1. Long term survival of an infant with Sirenomelia (pages 292–296)

      Dr. Lorne A. Clarke, David A. Stringer, Graham C. Fraser and Siu Li Yong

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450303

  4. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Letter To The Editors
    11. Rapid Publications
    12. Articles
    13. Announcementss
    1. Phocomelia, oligodactyly, and acrania: The Schinzel-Phocomelia syndrome (pages 297–299)

      Dr. David Chitayat, Heater J. Stalker, Michel Vekemans, Danielle Delneste and E. Michel Azouz

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450304

    2. Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11 (pages 308–312)

      David Kelly, Rosalie Goldberg, David Wilson, Elizabeth Lindsay, Alisoun Carey, Judith Goodship, John Burn, Ian Cross, Robert J. Shprintzen and Dr. Peter J. Scambler

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450306

    3. Velo-cardio-facial syndrome: A review of 120 patients (pages 313–319)

      Rosalie Goldberg, Beth Motzkin, Robert Marion, Peter J. Scambler and Robert J. Shprintzen

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320450307

    4. Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type: A congenital familial skeletal dysplasia with distinctive features and histopathology (pages 320–326)

      Dr. Zvi Borochowitz, Leonard O. Langer Jr., Helen E. Gruber, Ralph Lachman, Mariassa Bat-Miriam Katznelson and David L. Rimoin

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320450308

    5. Barth syndrome: Clinical features and confirmation of gene localisation to distal Xq28 (pages 327–334)

      L. C. Adès, A. K. Gedeon, M. J. Wilson, M. Latham, M. W. Partington, J. C. Mulley, J. Nelson, K. Lui and Professor D. O. Sillence

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450309

    6. Trimethylaminuria in a girl with Prader-Willi syndrome and del(15)(q11q13) (pages 335–339)

      Harold Chen and Frank Aiello

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450310

    7. Familial Mediterranean fever in the colchicine era: The fate of one family (pages 340–344)

      Deborah Zemer, Avi Livneh, Mordechai Pras and Ezra Sohar

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450311

    8. Exclusion of type II and type VI procollagen gene mutations in a five-generation family with multiple epiphyseal dysplasia (pages 345–352)

      Eric J. Weaver, Gregg P. Summerville, George Yeh, Maria Hervada-Page, Ralph Oehlmann, Richard Rothman, Sergio A. Jimenez and Robert G. Knowlton

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320450312

    9. Microcephaly and digital anomalies: A newly recognized syndrome of recessively inherited mental retardation (pages 353–355)

      Thaddeus E. Kelly, Lisa Kirson and Jo Wyatt

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450313

  5. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Letter To The Editors
    11. Rapid Publications
    12. Articles
    13. Announcementss
    1. Elevated human chorionic gonadotropin levels in pregnancies with sex chromosome abnormalities (pages 356–357)

      I. Barnes-Kedar, A. Amiel, O. Maor and M. Fejgin

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450314

  6. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Letter To The Editors
    11. Rapid Publications
    12. Articles
    13. Announcementss
    1. Syndrome of cleft palate, microcephaly, large ears, and short stature (Say syndrome) (pages 358–360)

      Bassam Abu-Libdeh, Atsuko Fujimoto and Marcia Ehinger

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450315

    2. Chorionic villus sampling followed by amniocentesis in the same pregnancy (pages 361–364)

      Alan E. Donnenfeld, Ronald J. Librizzi, Linda K. Dunn, Frank Craparo, Lynn Godmilow and Stuart Weiner

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320450316

    3. Unbalanced mosaic karyotypes with different structural abnormalities involving a common chromosome region: Report of two cases (pages 365–369)

      M. J. Pettenati, L. A. Teot, C. Smith, R. Hayworth, I. T. Thomas, J. C. Veille and P. N. Rao

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450317

  7. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Letter To The Editors
    11. Rapid Publications
    12. Articles
    13. Announcementss
    1. Michelin tire baby syndrome: Familial constriction bands during infancy and early childhood in four generations (pages 370–372)

      Harold N. Bass, Sibylle Caldwell and Barry S. Brooks

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320450318

  8. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Letter To The Editors
    11. Rapid Publications
    12. Articles
    13. Announcementss
    1. Extended major histocompatibility complex haplotypes in celiac patients in the west of Ireland (pages 373–377)

      Anne Mannion, Fiona M. Stevens, C. F. McCarthy, Helen Grimes-O'Cearbhaill and Dr. A. A. Killeen

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450319

    2. Prenatal diagnosis of Tetraploidy: A case report (pages 378–382)

      Sandra J. Coe, Raj Kapur, Frederick Luthardt, Peter Rabinovitch and Dawna Kramer

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450320

  9. Letter To The Editors

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Letter To The Editors
    11. Rapid Publications
    12. Articles
    13. Announcementss
    1. You have free access to this content
      Birth prevalence study of the Apert syndrome (page 392)

      Andrew E. Czeizel, Csaba Elek and Éva Susánszky

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320450322

    2. You have free access to this content
      Reply to Drs. Czeizel et al (page 393)

      Dr. M. Michael Cohen Jr., S. Kreiborg, E. J. Lammer, J. F. Cordero, P. Mastroiacovo, J. D. Erickson, P. Roeper and M. L. Martínez-Frías

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450323

    3. You have free access to this content
      Screening for chromosome abnormalities (page 394)

      Mark H. Bogart

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450324

    4. You have free access to this content
      Maternal age and recommendation of amniocentesis (page 395)

      Dr. T. Reynolds and A. Dawson

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450325

    5. You have free access to this content
      Reply to Drs. Bogart, Golbus, and Reynolds and Dawson (page 396)

      Sara Kaffe and Dr. Lillian Y. F. Hsu

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450326

    6. You have free access to this content
      Ankyloblepharon filiforme adnatum and imperforate anus (page 397)

      David J. Aughton and Karen G. Hufnagle

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450327

    7. You have free access to this content
      Prolonged maternal diet imbalance and recurrent fetuses with congenital anomalies (pages 398–399)

      Ruth N. Sheffer, Mordechai Shohat and Paul Merlob

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450328

    8. You have free access to this content
      Reply to Dr. Sheffer and Co-Workers (page 400)

      Gabriel M. Ronen

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450329

  10. Rapid Publications

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Letter To The Editors
    11. Rapid Publications
    12. Articles
    13. Announcementss
    1. Decrease in the size of the myotonic dystrophy CTG repeat during transmission from parent to child: Implications for genetic counselling and genetic anticipation (pages 401–407)

      Dr. Alasdair G. W. Hunter, Pierre Jacob, Kim O'Hoy, Ian MacDonald, Gabrielle Mettler, Catherine Tsilfidis and Robert G Korneluk

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450330

  11. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Letter To The Editors
    11. Rapid Publications
    12. Articles
    13. Announcementss
    1. Presymptomatic diagnosis of SMA III by genotype analysis (pages 408–411)

      Dr. Christina Brahe, Stefania Zappata, Isabella Velonà, Enrico Bertini, Serenella Servidei, Pietro Tonali and Giovanni Neri

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450331

  12. Announcementss

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Reports
    5. Articles
    6. Brief Clinical Reports
    7. Articles
    8. Brief Clinical Reports
    9. Articles
    10. Letter To The Editors
    11. Rapid Publications
    12. Articles
    13. Announcementss
    1. You have free access to this content
      Announcements (page 412)

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320450332

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