American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

15 August 1994

Volume 52, Issue 2

Pages fmi–fmi, 123–255

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. Letter to the Editors
    8. Book Received
    1. Masthead (page fmi)

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520201

  2. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Letter to the Editors
    8. Book Received
    1. Marked female predilection in some syndromes associated with facial hemangiomas (pages 130–135)

      Robert J. Gorlin, Piranit Kantaputra, David J. Aughton and John B. Mulliken

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520203

    2. Mental retardation and Ullrich-Turner syndrome in cases with 45,X/46,X,+ mar: Additional support for the loss of the X-inactivation center hypothesis (pages 136–145)

      Heath Cole, Bing Huang, Bonnie Anne Salbert, Judith Brown, Patricia N. Howard-Peebles, Susan H. Black, Andrew Dorfmann, Oscar R. Febles, Cathy A. Stevens and Colleen Jackson-Cook

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520204

    3. Arylsulfatase a psedodeficiency: A common polymorphism which is associated with a unique haplotype (pages 146–150)

      Joël Zlotogora, Yael Furman-Shaharabani, Sandra Goldenfum, Bryan Winchester, Kurt Von Figura and Volkmar Gieselmann

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520205

    4. Preimplantation genetics: A case for prospective action (pages 151–157)

      Eugene Pergament and Andrea Bonnicksen

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520206

    5. Molecular and clinical study of 61 Angelman syndrome patients (pages 158–163)

      Shinji Saitoh, Naoki Harada, Yoshihiro Jinno, Katsuyo Hashimoto, Kiyoshi Imaizumi, Yoshikazu Kuroki, Yohimitsu Fukushima, Tateo Sugimoto, Mónica Renedo, Joseph Wagstaff, Marc Lalande, Apiwat Mutirangura, Akira Kuwano, David H. Ledbetter and Norio Niikawa

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520207

    6. Cardiac abnormalities in the Bardet-Biedl syndrome: Echocardiographic studies of 22 patients (pages 164–169)

      Khalil Elbedour, Nili Zucker, Eli Zalzstein, Yechiel Barki and Dr. Rivka Carmi

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520208

    7. Knobloch syndrome in a large Brazilian consanguineous family: Confirmation of autosomal recessive inheritance (pages 170–173)

      M. Rita Passos-Bueno, Suely K. Marie, Mario Monteiro, Isaac Neustein, Martin R. Whittle, Mariz Vainzof and Mayana Zatz

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520209

    8. Apparent genetic homogeneity of the treacher Collins-Franceschetti syndrome (pages 174–177)

      Patrick Edery, Yves Manach, Martine Le Merrer, Marianne Till, Alain Vignal, Stanislas Lyonnet and Arnold Munnich

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520210

    9. Molecular cytogenetic determination of a deletion/duplication of 1q that results in a trisomy 18 syndrome-like phenotype (pages 178–183)

      Reema Mewar, Wilbur Harrison, David D. Weaver, Catherine Palmer, Margaret A. Davee and Dr. Joan Overhauser

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520211

  3. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Letter to the Editors
    8. Book Received
    1. Duplication 10q confirmed by DNA in situ hybridization (pages 184–187)

      Virginia P. Johnson and Willis C. Sutliff

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520212

  4. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Letter to the Editors
    8. Book Received
    1. Megalocornea-mental retardation syndrome: An additional case (pages 196–197)

      Guillermo Antiñolo, Miguel Rufo, Salud Borrego and Celia Morales

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520214

    2. Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation (pages 198–206)

      N. Abbadi, C. Philippe, M. Chery, H. Gilgenkrantz, F. Tome, H. Collin, D. Theau, D. Recan, O. Broux, M. Fardeau, J.-C. Kaplan and Pr. S. Gilgenkrantz

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520215

    3. Linkage analyses of chromosome 6 loci, including HLA, in familial aggregations of Crohn disease (pages 207–213)

      Jean Pierre Hugot, Pierre Laurent-Puig, Corine Gower-Rousseau, Sophie Caillat-Zucman, Laurent Beaugerie, Jean-Louis Dupas, André Van Gossum, Catherine Bonaïti-Pellie, Antoine Cortot, Gilles Thomas and G.E.T.A.I.D.

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520216

    4. Jumping translocation in a newborn boy with dup (4q) and severe hydrops fetalis (pages 214–217)

      Els Duval, Apollonia van den Enden, Piet Vanhaesebrouck and Frank Speleman

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520217

  5. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Letter to the Editors
    8. Book Received
  6. Letter to the Editors

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Letter to the Editors
    8. Book Received
    1. Is fluphenazine a teratogen? (pages 231–232)

      Prof. Paul Merlob, Bracha Stahl and Esther Maltz

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520221

    2. Detection of 46,XX male by Y-specific whole chromosome paint probe (pages 239–241)

      Dr. Syed M. Jalal, Mark E. Law, Gordon W. Dewald, Gurbax S. Sekhon and Daniel L. Van Dyke

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520225

    3. Japanese kindred with FG syndrome (pages 242–243)

      Rumiko Kato, Norio Niikawa, Toshiro Nagai and Yoshimitsu Fukushima

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520226

    4. Double trisomy (48,XXX, + 18) (page 244)

      Dr. M. Tsukahara, M. Fukuda, S. Furukawa and O. Kondoh

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520227

    5. Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) and microcephaly (page 245)

      Satoshi Ishikiriyama and Michiyo Goto

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520228

    6. Angelman syndrome and vermian cyst (pages 246–247)

      G. Incorpora, M. Cocuzza and T. Mattina

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520229

    7. Familial Pallister-Hall syndrome: Three affected offspring (page 251)

      Irene N. Sills, Robert Rapaport, Franklin Desposito and Caroline Lieber

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520231

    8. Hereditary hemorrhagic telangiectasia: A disorder in search of the genetics community (pages 252–253)

      Alan E. Guttmacher, Wendy C. McKinnon and Michael D. Upton

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520232

    9. NAS-NRC twin registry 1995 survey (page 254)

      William F. Page

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520233

  7. Book Received

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. Brief Clinical Report
    7. Letter to the Editors
    8. Book Received
    1. You have free access to this content
      Books received (page 255)

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320520234

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