American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

October 1990

Volume 37, Issue 2

Pages fmi–fmi, 169–299

Currently known as: American Journal of Medical Genetics Part A

  1. Masthead

    1. Top of page
    2. Masthead
    3. Brief Clinical Report
    4. Articles
    5. New Syndrome?
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Brief Clinical Report
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Brief Clinical Reports
    14. Letter to the Editors
    1. Masthead (page fmi)

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370201

  2. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Brief Clinical Report
    4. Articles
    5. New Syndrome?
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Brief Clinical Report
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Brief Clinical Reports
    14. Letter to the Editors
  3. Articles

    1. Top of page
    2. Masthead
    3. Brief Clinical Report
    4. Articles
    5. New Syndrome?
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Brief Clinical Report
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Brief Clinical Reports
    14. Letter to the Editors
    1. Rearrangement of chromosome 15 in the region q11.2[RIGHTWARDS ARROW]q12 in an individual with obesity syndrome and her normal mother (pages 173–177)

      M. Shohat, T. Shohat, D. L. Rimoin, T. Mohandas, J. Heckenlively, R. E. Magenis, M. B. Davidson and Dr. J. R. Korenberg

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370203

  4. New Syndrome?

    1. Top of page
    2. Masthead
    3. Brief Clinical Report
    4. Articles
    5. New Syndrome?
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Brief Clinical Report
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Brief Clinical Reports
    14. Letter to the Editors
  5. Articles

    1. Top of page
    2. Masthead
    3. Brief Clinical Report
    4. Articles
    5. New Syndrome?
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Brief Clinical Report
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Brief Clinical Reports
    14. Letter to the Editors
    1. Microphthalmia and chorioretinal lesions in a girl with an Xp22.2-pter deletion and partial 3p trisomy: Clinical observations relevant to aicardi syndrome gene localization (pages 182–186)

      Alan E. Donnenfeld, John M. Graham Jr., Roger J. Packer, Rosaria Aquino, Susan Z. Berg and Beverly S. Emanuel

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370205

    2. Somatic mosaicism at the duchenne locus (pages 187–190)

      Roger V. Lebo, Richard K. Olney and Mitchell S. Golbus

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370206

    3. Patterns of mood states in pregnant women undergoing chorionic villus sampling or amniocentesis (pages 191–199)

      Sandra L. Tunis, Mitchell S. Golbus, Karen L. Copeland, Beth A. Fine, Barbara J. Rosinsky and Linda Seely

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370207

    4. Chondrodysplasia punctata, tibia-metacarpal (MT) type (pages 200–208)

      M. Rittler, H. Menger and Dr. J. Spranger

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370208

    5. New type of X-linked progressive muscular dystrophy involving shoulder girdle and back (pages 209–212)

      Xue-Wen Ji, Jun Tan, Xiao-Yi Chen, Shao-Xuan Yi and Hong Liang

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370209

    6. GAPO syndrome (McKusick 23074)—A connective tissue disorder: Report on two affected sibs and on the pathologic findings in the older (pages 213–223)

      Anita Wajntal, Célia P. Koiffmann, Berenice B. Mendonça, Dorina Epps-Quaglia, Myriam Nacagami Sotto, Patrícia B. M. Rati and John M. Opitz

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370210

  6. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Brief Clinical Report
    4. Articles
    5. New Syndrome?
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Brief Clinical Report
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Brief Clinical Reports
    14. Letter to the Editors
    1. The craniodigital syndrome of Scott: Report of a second family (pages 224–226)

      Peter Lorenz, Georg Klaus Hinkel, Carola Hoffmann and Edgar Rupprecht

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370211

    2. Ullrich-turner syndrome with agenesis of the corpus callosum (pages 227–228)

      Masahiko Kimura, Masako Nakajima and Kunio Yoshino

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370212

  7. Articles

    1. Top of page
    2. Masthead
    3. Brief Clinical Report
    4. Articles
    5. New Syndrome?
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Brief Clinical Report
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Brief Clinical Reports
    14. Letter to the Editors
    1. On the measurement and interpretation of birth defect associations in epidemiologic studies (pages 229–236)

      Dr. Muin J. Khoury, Levy M. James and J. David Erickson

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370213

    2. Arthrogryposis, cholestatic pigmentary liver disease and renal dysfunction: Report of a second family (pages 237–240)

      M. Di Rocco, E. Reboa, A. Barabino, A. Larnaout, M. Canepa, C. Savioli, M. Cremonte and Prof. C. Borrone

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370214

  8. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Brief Clinical Report
    4. Articles
    5. New Syndrome?
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Brief Clinical Report
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Brief Clinical Reports
    14. Letter to the Editors
    1. New findings in a patient with dubowitz syndrome: Velopharyngeal insufficiency and hypoparathyroidism (pages 241–243)

      Tally Lerman-Sagie, Paul Merlob, Avinoam Shuper, Rivka Kauli, Zilli Kozokaro, Michael Grunebaum and Marc Mimouni

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370215

  9. Articles

    1. Top of page
    2. Masthead
    3. Brief Clinical Report
    4. Articles
    5. New Syndrome?
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Brief Clinical Report
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Brief Clinical Reports
    14. Letter to the Editors
    1. Holoprosencephaly: Examples of clinical variability and etiologic heterogeneity (pages 244–249)

      Giovanni Corsello, Piera Buttitta, Marina Cammarata, Alfio Lo Presti, Emiliano Maresi, Luigi Zumpani and Liborio Giuffrè

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370216

    2. Chromosome lesions which could be interpreted as “fragile sites” on the distal end of Xq (pages 250–253)

      Merlin G. Butler, G. Andrew Allen, Judy L. Haynes and Samuel J. Clark

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370217

    3. Clinical diagnosis of partial duplication 7q (pages 254–257)

      Oliver Bartsch, Udo Kalbe, Thi Kim Nhan Ngo, Reinhard Lettau and Eberhard Schwinger

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370218

    4. Ulnar agenesis and endocardial fibroelastosis (pages 258–260)

      Sandra L. Marles and Albert E. Chudley

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370219

    5. Maternal serum hCG and SP1 in pregnancies with fetal aneuploidy (pages 261–264)

      Iris Bartels, Marion Thiele and Mark H. Bogart

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370220

  10. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Brief Clinical Report
    4. Articles
    5. New Syndrome?
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Brief Clinical Report
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Brief Clinical Reports
    14. Letter to the Editors
    1. True precocious puberty in a girl with the fragile X syndrome (pages 265–267)

      Patrick S. J. Moore, Dr. Albert E. Chudley and Jeremy S. D. Winter

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370221

  11. Articles

    1. Top of page
    2. Masthead
    3. Brief Clinical Report
    4. Articles
    5. New Syndrome?
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Brief Clinical Report
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Brief Clinical Reports
    14. Letter to the Editors
    1. Interpretation of chromosome mosaicism and discrepancies in chorionic villi studies (pages 268–271)

      Prof. Dr. Eva S. Sachs, Milena G. J. Jahoda, Frans J. Los, Leen Pijpers, Annette Reuss and Juriy W. Wladimiroff

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370222

    2. Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen (pages 272–276)

      Ilse J. Anderson, Petros Tsipouras, Carron Scher, Raj S. Ramesar, Robert W. Martell and Professor Peter Beighton

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370223

    3. Mental retardation, short stature, almond-shaped eyes, small downturned mouth and coned epiphyses: A new case of Hunter-fraser syndrome (pages 283–285)

      L. Van Maldergem, Y. Gillerot, N. Perlmutter, C. Wetzburger and L. Koulischer

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370225

  12. Brief Clinical Reports

    1. Top of page
    2. Masthead
    3. Brief Clinical Report
    4. Articles
    5. New Syndrome?
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Brief Clinical Report
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Brief Clinical Reports
    14. Letter to the Editors
    1. Agnathia, holoprosencephaly, and situs inversus: A third report (pages 286–287)

      Dr. Peter Meinecke, Barbara Padberg and Rudolf Laas

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370226

  13. Letter to the Editors

    1. Top of page
    2. Masthead
    3. Brief Clinical Report
    4. Articles
    5. New Syndrome?
    6. Articles
    7. Brief Clinical Reports
    8. Articles
    9. Brief Clinical Report
    10. Articles
    11. Brief Clinical Reports
    12. Articles
    13. Brief Clinical Reports
    14. Letter to the Editors
    1. The translocation 11q;22q: A novel unbalanced karyotype (page 288)

      Dr. Dvorah Abeliovich and Rivka Carmi

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370227

    2. Duchenne-like muscular dystrophy in the Arabs (page 289)

      Mayana Zatz, Maria Rita Passos-Bueno and Debora Rapaport

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370228

    3. Duchenne-like muscular dystrophy in the Arabs (page 290)

      Talaat I. Farag and Ahmad S. Teebi

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370229

    4. X-linked microphthalmia syndrome (page 291)

      Elias I. Traboulsi

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370230

    5. Genée-wiedemann syndrome in a family (page 293)

      Meinhard Robinow and Harold Chen

      Version of Record online: 6 JUN 2005 | DOI: 10.1002/ajmg.1320370232

    6. Parental origin of del(15)(q11–q13) in Angelman and Prader-Willi syndromes (pages 294–295)

      Roberto Zori, Charles Williams, J. F. Mattei and Anne Moncla

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370233

    7. Clinically recognizable chromosomal abnormalities in newborn infants (page 296)

      Károly Méhes and Katalin Bajnóczky

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370234

    8. Pseudotrisomy 13 syndrome (page 297)

      Dr. Mary J. Seller and C. P. Bennett

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370235

    9. Chromosome abnormalities in and pathogenesis of kallmann syndrome (page 298)

      David Bick, Andrea Ballabio and Lyle Best

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370236

    10. Precocious mortality in christ-siemens-touraine syndrome (page 299)

      Newton Freire-Maia and Marta Pinheiro

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320370237

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