American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

1 December 1993

Volume 47, Issue 8

Pages fmi–fmi, 1147–1237

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. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. Articles
    10. Letter to the Editors
    1. Masthead (page fmi)

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470801

  2. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. Articles
    10. Letter to the Editors
    1. Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: Review and gene assignment to the interface of band 3q22.3 and 3q23 (pages 1147–1150)

      Tamison Jewett, P. Nagesh Rao, R. Grey Weaver, William Stewart, Ioan T. Thomas and Mark J. Pettenati

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470802

    2. Najjar syndrome revisited (pages 1151–1152)

      Dr. I. T. Thomas, T. Jewett, P. Lantz, W. Covitz, P. Garber and M. N. Berry

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320470803

  3. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. Articles
    10. Letter to the Editors
    1. Characterization of a small supernumerary ring X chromosome by fluorescence in situ hybridization (pages 1153–1156)

      Alessandra M. V. Duncan, Athen Macdonald, Carolyn J. Brown, Daynna Wolff, Huntington F. Willard and Bernice Sutton

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320470804

  4. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. Articles
    10. Letter to the Editors
    1. Dup(lq)(q42[RIGHTWARDS ARROW]qter) syndrome: Case report and review of literature (pages 1157–1160)

      PD Dr. Ingo Kennerknecht, Gotthold Barbi and Klaus Rodens

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470805

  5. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. Articles
    10. Letter to the Editors
    1. Holoprosencephaly and primary craniosynostosis: The Genoa syndrome (pages 1161–1165)

      Gianni Camera, Mario Lituania and Dr. M. Michael Cohen Jr.

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320470806

  6. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. Articles
    10. Letter to the Editors
    1. Familial occurrence of agonadism and multiple internal malformations in phenotypically normal girls with 46,XY and 46,XX karyotypes, respectively: A new autosomal recessive syndrome (pages 1166–1170)

      PD Dr. Ingo Kennerknecht, Wolfgang Sorgo, Renate Oberhoffer, Walter M. Teller, Torsten Mattfeldt, Giovanni Negri and Walther Vogel

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470807

    2. Prenatal diagnosis and clinical findings in a case of hexasomy 12p (pages 1171–1174)

      Ignatia B. van Den Veyver, Michelle E. Macha, Christopher McCaskill, Robert J. Carpenter Jr. and Lisa G. Shaffer

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470808

    3. Adams-Oliver syndrome: A case with juvenile chronic myelogenous leukemia and chylothorax (pages 1175–1179)

      Dr. S. A. Farrell, L. J. Warda, P. Laflair and W. Szymonowicz

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320470809

    4. Banding resolution of human chromosomes: A method of accuracy and simplicity (pages 1180–1183)

      Jeanna L. Welbor and Roger Welborn

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470810

    5. Oral involvement of recessive dystrophic epidermolysis bullosa inversa (pages 1184–1188)

      J. Timothy Wright, Jo-David Fine, Loraine B. Johnson and Todd T. Steinmetz

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320470811

    6. Malformations and deformations in abdominal pregnancy (pages 1189–1195)

      Cathy A. Stevens

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320470812

  7. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. Articles
    10. Letter to the Editors
    1. Significance of mosaic isochromosome 20q on amniocentesis (pages 1196–1197)

      Alan E. Donnenfeld and Melessa A. Kershner

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470813

  8. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. Articles
    10. Letter to the Editors
    1. Inverted duplication of chromosome 5p14p15.3 confirmed with in situ hybridization (pages 1198–1201)

      Julie L. Zenhger-Hain, Daniel L. van Dyke, Anne Wiktor, Hugh Walker and Gerald L. Feldman

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470814

    2. Assocition between “plagiocephaly” and hemifacial microsomia (pages 1202–1207)

      Bonnie L. Padwa, Richard J. Bruneteau and John B. Mulliken

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470815

    3. Genetic etiology of nuclear cataract: Evidence for a major gene (pages 1208–1214)

      Ibrahim M. Heiba, Robert C. Elston, Barbara E. K. Klein and Ronald Kein

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470816

    4. Familial remitting chorea, nystagmus, and cataracts (pages 1215–1217)

      Patricia G. Wheeler, William B. Dobyns, David A. Plager and Forrest D. Ellis

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470817

    5. Further characterization of 19 cases of rea(21q21q) and delineation as isochromosomes or robertsonian translocations in down syndrome (pages 1218–1222)

      Lisa G. Shaffer, Christopher McCaskill, Vickie Haller, Judith A. Brown and Colleen K. Jackson-Cook

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470818

    6. Model consent froms for DNA linkage analysis and storage (pages 1223–1224)

      R. L. Gold, Dr. R. R. Lebel, E. A. Mearns, R. B. Dworkin, T. Hadro and J. K. Burns

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470819

    7. Prenatal testing in a fetus at risk for autosomal dominant polycystic kidney disese and autosomal recessive junctional epidermolysis bullosa with pyloric atresia (pages 1225–1230)

      Alberto E. Turco, Bernard Peissel, Sandro Rossetti, Angelo Selicorni, Siranoush Manoukian, Alberto Brusasco, Gianluca Tadini, Andrea Galimberti, Beatrice Tassis, Licia Turolla, Romano Tenconi and Pier Franco Pignatti

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470820

  9. Letter to the Editors

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Articles
    8. Brief Clinical Report
    9. Articles
    10. Letter to the Editors
    1. Menetrier disease in a child of a consanguineous union (pages 1231–1232)

      Peter Marcus and Dr. Marion S. Verp

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470821

    2. Baller-Gerold syndrome: A postmortem examination (page 1233)

      Ngozi A. Nwokoro, Ronald Jaffe and Mamdouha Barmada

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470822

    3. On the nosology of the “Schinzel-phocomelia” and “Al-Awadi/Raas-Rothschield” syndromes (page 1234)

      Iosif W. Lurie and Eric A. Wulfsberg

      Article first published online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320470823

    4. Historical note on restrictive dermopathy and report of two new cases (pages 1235–1237)

      Prof., Dr. Widukind Lenz and Dieter Meschede

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320470824

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