American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

3 July 1995

Volume 57, Issue 3

Pages fmi–fmi, 377–524

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. Brief Clinical Report
    11. Articles
    12. Letter to the Editor
    13. Book Reviews
    14. Articles
    15. Books Received
    1. Masthead (page fmi)

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570301

  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. Brief Clinical Report
    11. Articles
    12. Letter to the Editor
    13. Book Reviews
    14. Articles
    15. Books Received
    1. Michels syndrome in a Brazilian girl born to consanguineous parents (pages 377–379)

      M. L. Guion-Almeida and E. S. O. Rodini

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570302

  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. Brief Clinical Report
    11. Articles
    12. Letter to the Editor
    13. Book Reviews
    14. Articles
    15. Books Received
    1. Nonspecific X-linked mental retardation with macrocephaly and obesity: A further family (pages 380–384)

      M. Baraitser, Dr. W. Reardon and S. Vijeratnam

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570303

  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. Brief Clinical Report
    11. Articles
    12. Letter to the Editor
    13. Book Reviews
    14. Articles
    15. Books Received
    1. Interest in genetic testing among first-degree relatives of breast cancer patients (pages 385–392)

      Dr. Caryn Lerman, Janet Seay, Andrew Balshem and Janet Audrain

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570304

    2. PCR-based study of the presence of Y-chromosome sequences in patients with Ullrich-Turner syndrome (pages 393–396)

      Dr. Eliecer Coto, Joaquín F. Toral, María J. Menéndez, Inés Hernando, Ana Plasencia, Ana Benavides and Carlos López-Larrea

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570305

    3. Femoral-facial syndrome–prenatal diagnosis–autosomal dominant inheritance (pages 397–399)

      Meinhard Robinow, Jiri Sonek, Louis Buttino and Anne Veghte

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570306

  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. Brief Clinical Report
    11. Articles
    12. Letter to the Editor
    13. Book Reviews
    14. Articles
    15. Books Received
    1. Supernumerary chromosome marker (1) in a developmentally delayed child (pages 400–402)

      Nancy Lanphear, Allen Lamb, Dr. Sonya Oppenheimer and Shirley Soukup

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570307

  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. Brief Clinical Report
    11. Articles
    12. Letter to the Editor
    13. Book Reviews
    14. Articles
    15. Books Received
    1. Previously apparently undescribed syndrome: Shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation (pages 403–409)

      Jeanette C. Ramer, Angela E. Lin, William B. Dobyns, Robin Winter, Ségolène Aymé, Rosanna Pallotta and Roger L. Ladda

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570308

    2. Tel Aviv–Heidelberg three-generation offspring study: Genetic determinants of apolipoprotein A1 and apolipoprotein B (pages 410–416)

      G. Livshits, M. Blettner, E. Graff, I. Hoting, J. Wahrendorf, D. Brunner and G. Schettler

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570309

    3. Renal anomalies in Marden-Walker syndrome: A clue for prenatal diagnosis (pages 417–419)

      Ziva Ben-Neriah, Simcha Yagel and Ilana Ariel

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570310

    4. Reproductive outcome in 3 families with a satellited chromosome 4 with review of the literature (pages 420–424)

      Pamela Hawks Arn, Linda Younie, Suzanne Russo, Joleen L. Zackowski, Carl Mankinen and Laurel Estabrooks

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570311

    5. Two sisters with Escobar syndrome (pages 425–428)

      Stephanie Spranger, Matthias Spranger, Hans-Michael Meinck and Gholamali Tariverdian

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570312

    6. Heritability and heteromorphic distributions of AluI chromosome banding variants in twins (pages 429–436)

      Bing Huang, Joanne M. Meyer and Dr. Colleen K. Jackson-Cook

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570313

    7. Combined Leydig cell and Sertoli cell dysfunction in 46, XX males lacking the sex determining region Y gene (pages 440–443)

      Bryan Turner, Patricia Y. Fechner, John S. Fuqua, Sandra M. Marcantonio, Elizabeth J. Periman, Jonathan S. Vordermark and Dr. Gary D. Berkovitz

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570315

    8. Follow-up study in a patient with Setleis syndrome (pages 444–446)

      Masato Tsukahara, Takahiro Okabe, Morimasa Ohtsuka and Susumu Furukawa

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570316

  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. Brief Clinical Report
    11. Articles
    12. Letter to the Editor
    13. Book Reviews
    14. Articles
    15. Books Received
    1. De novo apparently balanced reciprocal translocation between 5q1l.2 and 17q23 associated with Klippel-Feil anomaly and type A1 brachydactyly (pages 447–449)

      Yoshimitsu Fukushima, Hirofumi Ohashi, Keiko Wakui, Hiroshi Nishimoto, Masato Sato and Toshinori Aihara

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570317

  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. Brief Clinical Report
    11. Articles
    12. Letter to the Editor
    13. Book Reviews
    14. Articles
    15. Books Received
    1. Splicing mutation in CYP21 associated with delayed presentation of salt-wasting congenital adrenal hyperplasia (pages 450–454)

      Brenda Kohn, Darren Day, Ramin Alemzadeh, Devi Enerio, Sanjivan V. Patel, Joseph V. Pelczar and Dr. Phyllis W. Speiser

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570318

    2. Dominant inheritance in two families with familial Mediterranean fever (FMF) (pages 455–457)

      Y. Yuval, M. Hemo-Zisser, D. Zemer, E. Sohar and M. Pras

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570319

  9. 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. Brief Clinical Report
    11. Articles
    12. Letter to the Editor
    13. Book Reviews
    14. Articles
    15. Books Received
    1. Oculodentodigital dysplasia with cerebral white matter abnormalities in a two-generation family (pages 458–461)

      Karen K. Norton, John C. Carey and David H. Gutmann

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570320

  10. 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. Brief Clinical Report
    11. Articles
    12. Letter to the Editor
    13. Book Reviews
    14. Articles
    15. Books Received
    1. Eleven polish patients with microcephaly, immunodeficiency, and chromosomal instability: The Nijmegen breakage syndrome (pages 462–471)

      K. H. Chrzanowska, W. J. Kleijer, M. Krajewska-Walasek, M. Białecka, A. Gutkowska, B. Goryluk-Kozakiewicz, J. Michałkiewicz, J. Stachowski, H. Gregorek, G. Łysón-Wojciechowska, W. Janowicz and S. Jóźwiak

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570321

    2. F-syndrome (F-form of acro-pectoro-vertebral dysplasia): Report on a second family (pages 472–475)

      Dr. Gianni Camera, Andrea Camera, Silvano Pozzolo, Margherita Costa and Renzo Mantero

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570322

    3. Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene (pages 476–478)

      Giancarlo Parenti, Maria Grazia Rizzolo, Monica Ghezzi, Salvatore Di Maio, Maria Pia Sperandeo, Barbara Incerti, Brunella Franco, Andrea Ballabio and Prof. Generoso Andria

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570323

    4. Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis (pages 479–482)

      Tom J. de Koning, Lodewijk A. Sandkuijl, Jan E. A. R. de Schryver, Eric A. M. Hennekam, Frits A. Beemer and Dr. Roderick H. J. Houwen

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570324

    5. Two pedigrees of autosomal dominant atrioventricular canal defect (AVCD): Exclusion from the critical region on 8p (pages 483–488)

      Francesca Amati, Aldo Mari, Rita Mingarelli, Massimo Gennarelli, Maria Cristina Digilio, Aldo Giannotti, Bruno Marino, Giuseppe Novelli and Dr. Bruno Dallapiccola

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570325

    6. XXY male with X-linked dominant chondrodysplasia punctata (Happle syndrome) (pages 489–492)

      Rebecca Sutphen, Marcelo J. Amar, Boris G. Kousseff and Kathleen E. Toomey

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570326

  11. Letter to the Editor

    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. Brief Clinical Report
    11. Articles
    12. Letter to the Editor
    13. Book Reviews
    14. Articles
    15. Books Received
    1. Pallister-Killian syndrome detected by fluorescence in situ hybridization (pages 498–500)

      Merlin G. Butler and V. G. Dev

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570330

    2. Hungarian case with Costello syndrome and translocation t(1,22) (pages 501–503)

      Andrew E. Czeizel and László Tímár

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570331

    3. Confirmatory linkage of hypochondroplasia to chromosome arm 4p (pages 505–506)

      Dr. Jacqueline T. Hecht, Carlos A. Herrera, Giselle A. Greenhaw, Clair A. Francomano, Gary A. Bellus and Susan H. Blanton

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570333

    4. Reply to Newton Freire-Maia on inbreeding among medical geneticists II (page 507)

      Professor Claude Stoll, Yves Alembik, Béatrice Dott and Josué Feingold

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570334

    5. Fragile X screening: What is the real issue? (pages 508–509)

      Renata Laxova

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570335

    6. Angelman syndrome at an older age (pages 510–511)

      Orit Reish and Richard A. King

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570336

  12. Book Reviews

    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. Brief Clinical Report
    11. Articles
    12. Letter to the Editor
    13. Book Reviews
    14. Articles
    15. Books Received
  13. 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. Brief Clinical Report
    11. Articles
    12. Letter to the Editor
    13. Book Reviews
    14. Articles
    15. Books Received
    1. Velo-cardio-facial syndrome: Frequency and extent of 22q1l deletions (pages 514–522)

      Elizabeth A. Lindsay, Rosalie Goldberg, Vesna Jurecic, Bernice Morrow, Christine Carlson, Raju S. Kucherlapati, Robert J. Shprintzen and Antonio Baldini

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570339

  14. Books Received

    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. Brief Clinical Report
    11. Articles
    12. Letter to the Editor
    13. Book Reviews
    14. Articles
    15. Books Received
    1. Books received (pages 523–524)

      Article first published online: 9 JUN 2005 | DOI: 10.1002/ajmg.1320570340

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