American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

1 February 1992

Volume 42, Issue 3

Pages fmi–fmi, 271–413

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. Brief Clinical Reports
    11. Articles
    12. New Syndrome?
    13. Articles
    14. Animal Model
    15. Articles
    16. Invited Editorial Comment
    17. Articles
    18. Letter to the Editors
    19. Rapid Publication
    1. Masthead (page fmi)

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320420301

  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. Brief Clinical Reports
    11. Articles
    12. New Syndrome?
    13. Articles
    14. Animal Model
    15. Articles
    16. Invited Editorial Comment
    17. Articles
    18. Letter to the Editors
    19. Rapid Publication
    1. Effect of heterogeneity and assumed mode of inheritance on lod scores (pages 271–275)

      Dr. Martina Durner and David A. Greenberg

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420302

  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. Brief Clinical Reports
    11. Articles
    12. New Syndrome?
    13. Articles
    14. Animal Model
    15. Articles
    16. Invited Editorial Comment
    17. Articles
    18. Letter to the Editors
    19. Rapid Publication
  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. Brief Clinical Reports
    11. Articles
    12. New Syndrome?
    13. Articles
    14. Animal Model
    15. Articles
    16. Invited Editorial Comment
    17. Articles
    18. Letter to the Editors
    19. Rapid Publication
    1. Congenital synspondylism (pages 288–295)

      Catherine R. Wiles, Thomas F. K. Taylor and Professor David O. Sillence

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420305

  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. Brief Clinical Reports
    11. Articles
    12. New Syndrome?
    13. Articles
    14. Animal Model
    15. Articles
    16. Invited Editorial Comment
    17. Articles
    18. Letter to the Editors
    19. Rapid Publication
    1. Low level mosaicism for a balanced 7;14 translocation in the father of an abnormal 7q + child (pages 296–297)

      Leonard J. Sciorra, Ellen Schlenker, David Toke, Sheila Brady-Yasbin, Debra Day-Salvatore and Ming-Liang Lee

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420306

  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. Brief Clinical Reports
    11. Articles
    12. New Syndrome?
    13. Articles
    14. Animal Model
    15. Articles
    16. Invited Editorial Comment
    17. Articles
    18. Letter to the Editors
    19. Rapid Publication
    1. Intrafamilial variability in cleidocranial dysplasia: A three generation family (pages 298–303)

      M.D. David Chitayat, Kathy A. Hodgkinson and E. Michel Azouz

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320420307

  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. Brief Clinical Reports
    11. Articles
    12. New Syndrome?
    13. Articles
    14. Animal Model
    15. Articles
    16. Invited Editorial Comment
    17. Articles
    18. Letter to the Editors
    19. Rapid Publication
    1. Pulmonary atresia with intact ventricular septum and hypoplastic right heart in sibs: A single gene disorder? (pages 304–306)

      Dr. David Chitayat, Nathalie McIntosh and Jean-Claude Fouron

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420308

  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. Brief Clinical Reports
    11. Articles
    12. New Syndrome?
    13. Articles
    14. Animal Model
    15. Articles
    16. Invited Editorial Comment
    17. Articles
    18. Letter to the Editors
    19. Rapid Publication
    1. Ebstein anomaly: Report of a familial occurrence and prenatal diagnosis (pages 307–309)

      Nathalie McIntosh, Dr. David Chitayat, Marietta Bardanis and Jean-Claude Fouron

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420309

    2. Autosomal dominant erythromelalgia (pages 310–315)

      W. H. Finley, J. R. Lindsey Jr., J.-D. Fine, G. A. Dixon and M. K. Burbank

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420310

    3. Trisomy 16p in a liveborn infant and review of trisomy 16p (pages 316–319)

      Timothy A. O'Connor and Rodney R. Higgins

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420311

  9. 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. Brief Clinical Reports
    11. Articles
    12. New Syndrome?
    13. Articles
    14. Animal Model
    15. Articles
    16. Invited Editorial Comment
    17. Articles
    18. Letter to the Editors
    19. Rapid Publication
    1. Autosomal dominant inheritance of Klein–Waardenburg syndrome (pages 320–322)

      Ruth Sheffer and Joel Zlotogora

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320420312

  10. 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. Brief Clinical Reports
    11. Articles
    12. New Syndrome?
    13. Articles
    14. Animal Model
    15. Articles
    16. Invited Editorial Comment
    17. Articles
    18. Letter to the Editors
    19. Rapid Publication
    1. Pericardial agenesis and focal aplasia cutis in tetrasomy 12p (Pallister-Killian syndrome) (pages 323–325)

      M.D. Maureen F. Zakowski, Yvonne Wright and Andrew Ricci Jr.

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420313

    2. Duplication of distal 19q: Clinical report and review (pages 326–330)

      M.D. Ellen Boyd, Frank S. Grass, James C. Parke, Kam Knutson and Roger E. Stevenson

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320420314

    3. DNA mutation analysis of Gaucher patients (pages 331–336)

      M.D. Ellen Sidransky, Shoji Tsuji, Brian M. Martin, Barbara Stubblefield and Edward I. Ginns

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420315

    4. Variability of Stickler syndrome (pages 337–339)

      J. Zlotogora, M. Sagi, A. Schuper, H. Leiba and S. Merin

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320420316

  11. New Syndrome?

    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. Brief Clinical Reports
    11. Articles
    12. New Syndrome?
    13. Articles
    14. Animal Model
    15. Articles
    16. Invited Editorial Comment
    17. Articles
    18. Letter to the Editors
    19. Rapid Publication
    1. Autosomal recessive blepharoptosis, cleft lip/palate, dental anomalies, and ectrodactyly (pages 340–342)

      E. S. O. Rodini and A. Richieri-Costa

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420317

  12. 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. Brief Clinical Reports
    11. Articles
    12. New Syndrome?
    13. Articles
    14. Animal Model
    15. Articles
    16. Invited Editorial Comment
    17. Articles
    18. Letter to the Editors
    19. Rapid Publication
    1. Acrofacial dysostosis syndrome type Rodriguez: A new lethal MCA syndrome (pages 343–345)

      Paul Petit, Philippe Moerman and Jean-Pierre Fryns

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420318

    2. Terminal transverse limb defects associated with familial cavernous angiomatosis (pages 346–351)

      Michele R. Filling-Katz, Dr. Sondra W. Levin, Nicholas J. Patronas and Norman N. K. Katz

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420319

  13. Animal Model

    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. Brief Clinical Reports
    11. Articles
    12. New Syndrome?
    13. Articles
    14. Animal Model
    15. Articles
    16. Invited Editorial Comment
    17. Articles
    18. Letter to the Editors
    19. Rapid Publication
    1. Canine X-linked muscular dystrophy as an animal model of Duchenne muscular dystrophy: A review (pages 352–356)

      Dr. Beth A. Valentine, Nena J. Winand, Deepti Pradhan, N. Sydney Moise, Alexander de Lahunta, Joe N. Kornegay and Barry J. Cooper

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420320

  14. 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. Brief Clinical Reports
    11. Articles
    12. New Syndrome?
    13. Articles
    14. Animal Model
    15. Articles
    16. Invited Editorial Comment
    17. Articles
    18. Letter to the Editors
    19. Rapid Publication
    1. Gelsolin gene mutation—at codon 187—in familial amyloidosis, Finnish: DNA-diagnostic assay (pages 357–359)

      M.D. Matti Haltia, Efrat Levy, Jouko Meretoja, Ivan Fernandez-Madrid, Olli Koivunen and Blas Frangione

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420321

    2. Cystic fibrosis mutations in French Canadians: Three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis (pages 360–364)

      Rima Rozen, Marc De Braekeleer, Jocelyne Daigneault, Leonor Ferreira-Rajabi, Maria Gerdes, Linda Lamoureux, Gervais Aubin, Fernand Simard, T. Mary Fujiwara and Kenneth Morgan

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420322

    3. Baller-Gerold syndrome: Case report and clinical and radiological review (pages 365–368)

      Dr. Bruno Dallapiccola, Leopoldo Zelante, Rita Mingarelli, Michele Pellegrino and Vincenzo Bertozzi

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420323

    4. Ankyloblepharon filiforme adnatum (pages 369–373)

      M.D. Avery H. Weiss, Gisele Riscile and Boris G. Kousseff

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320420324

    5. New case of Toriello-Carey syndrome (pages 374–376)

      Dr. Didier Lacombe, Gérard Creusot and Jacques Battin

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420325

  15. Invited Editorial Comment

    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. Brief Clinical Reports
    11. Articles
    12. New Syndrome?
    13. Articles
    14. Animal Model
    15. Articles
    16. Invited Editorial Comment
    17. Articles
    18. Letter to the Editors
    19. Rapid Publication
    1. de Lange syndrome (pages 377–378)

      Laird G. Jackson

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420326

  16. 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. Brief Clinical Reports
    11. Articles
    12. New Syndrome?
    13. Articles
    14. Animal Model
    15. Articles
    16. Invited Editorial Comment
    17. Articles
    18. Letter to the Editors
    19. Rapid Publication
    1. Gastroesophageal dysfunction in Brachmann–de Lange syndrome (pages 379–380)

      Y. Rosenbach, I. Zahavi and Professor G. Dinari

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420327

  17. 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. Brief Clinical Reports
    11. Articles
    12. New Syndrome?
    13. Articles
    14. Animal Model
    15. Articles
    16. Invited Editorial Comment
    17. Articles
    18. Letter to the Editors
    19. Rapid Publication
    1. Fanconi anemia in blacks (page 393)

      Blanche P. Alter

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320420330

    2. Response to Dr. Alter (page 394)

      Dr. Lorna G. MacDougall and Jennifer Rosendorff

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320420331

    3. 47,XXX t(7;11)(p 11.2;q11.2) and 48,XXXX t(7;11)(p11.2;q11.2) in the same patient (page 395)

      Judit Béres and László Timár

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420332

    4. Isochromosome/duplication of 10p and translocation of 10q (pages 396–397)

      H. Rivera and F. Rivas

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420333

    5. Possible common pathogenetic mechanisms for Poland sequence and Adams–Oliver syndrome: An additional clinical observation (pages 398–399)

      H. Eugene Hoyme, Vazken M. Der Kaloustian, Heidi Hogg, Martin A. Entin and Alan E. Guttmacher

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420334

    6. New lethal acrofacial dysostosis syndrome (page 400)

      Jacqueline T. Hecht

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420335

    7. Response to Dr. Hecht (page 401)

      José Ignacio Rodríguez, José Palacios and Miguel Urioste

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320420336

    8. Two extra inv dup(15) chromosomes and male infertility: Second case (pages 402–403)

      Elisabetta Manenti

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320420337

  18. Rapid Publication

    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. Brief Clinical Reports
    11. Articles
    12. New Syndrome?
    13. Articles
    14. Animal Model
    15. Articles
    16. Invited Editorial Comment
    17. Articles
    18. Letter to the Editors
    19. Rapid Publication
    1. Distal limb deficiency following chorionic villus sampling? (pages 404–413)

      Rüdiger Schloo, Peter Miny, Wolfgang Holzgreve, Jürgen Horst and Widukind Lenz

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320420338

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