American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

27 March 1995

Volume 56, Issue 2

Pages fmi–fmi, 127–246

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. Letters to the Editor
    13. Books Received
    1. Masthead (page fmi)

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320560201

  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. Letters to the Editor
    13. Books Received
    1. Kabuki make-up (Niikawa-Kuroki) syndrome in the Byelorussian register of congenital malformations: Ten new observations (pages 127–131)

      Helena Ilyina, Iosif Lurie, Irena Naumtchik, Dmitry Amoashy, Galina Stephanenko, Valery Fedotov and Albina Kostjuk

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320560202

    2. Bilateral ulna hypoplasia, club feet, and mental retardation: A new mesomelic syndrome (pages 132–135)

      G. Kohn, G. Malinger, R. El Shawwa, A. Scheinfeld, R. Tepper, A. Ornoy, R. Lachman and D. L. Rimoin

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320560203

  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. Letters to the Editor
    13. Books Received
    1. Family with partial monosomy 10p and trisomy 10p (pages 136–140)

      Ellis Hon, Cyril Chapman and Tania R. Gunn

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320560204

  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. Letters to the Editor
    13. Books Received
    1. X microchromosome with additional chromosome anomalies found in Ullrich-Turner syndrome (pages 141–146)

      Karen L. Wydner, Mengrong Li, Carol Singer-Granick, Leonard J. Sciorra and Leslie J. Krueger

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320560205

  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. Letters to the Editor
    13. Books Received
  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. Letters to the Editor
    13. Books Received
    1. Marker chromosome 21 identified by microdissection and FISH (pages 151–154)

      Yongming Sun, Jack Rubinstein, Shirley Soukup and Catherine G. Palmer

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320560207

  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. Letters to the Editor
    13. Books Received
    1. Acrofacial dysostosis of unknown type: Nosology of the acrofacial dysostoses (pages 155–160)

      Dr. Sabine Preis, Inge Raymaekers-Buntinx and Frank Majewski

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320560208

    2. Choledochal cyst associated with rare hand malformation (pages 161–163)

      Anwar Dudin, Mustafa Abdelshafi and Annie Rambaud-Cousson

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320560209

  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. Letters to the Editor
    13. Books Received
    1. New autosomal recessive form of amelia (pages 164–167)

      Jacques Michaud, Denis Filiatrault, Louis Dallaire and Marie Lambert

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320560210

    2. Severe case of al Awadi/Raas-Rothschild syndrome or new, possibly autosomal recessive facio-skeleto-genital syndrome (pages 168–172)

      Florindo Mollica, Domenico Mazzone, Gabriella Cimino and John M. Opitz

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320560211

    3. Renal tubular acidosis in the Silver-Russell syndrome (pages 173–175)

      Ramón Alvarenga, Ariadna González del Angel, Victoria del Castillo, Silvestre García de la Puente, Irene Maulén and Dra. Alessandra Carnevale

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320560212

    4. Clinical profile of Angelman syndrome at different ages (pages 176–183)

      Dr. Inge M. Buntinx, Raoul C. M. Hennekam, Oebele F. Brouwer, Hans Stroink, Joke Beuten, Kathelijne Mangelschots and J. P. Fryns

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320560213

    5. Familial inverted duplication 7p (pages 184–187)

      G. Bradley Schaefer, Kelli Novak, David Steele, Bruce Buehler, Shelley Smith, Dianna Zaleski, Diane Pickering, Marilu Nelson and Warren Sanger

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320560214

    6. Developmental trends of sleep-disordered breathing in Prader-Willi syndrome: The role of obesity (pages 188–190)

      Gila Hertz, Mary Cataletto, Steven H. Feinsilver and Moris Angulo

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320560215

    7. Submicroscopic deletions at 22q11.2: Variability of the clinical picture and delineation of a commonly deleted region (pages 191–197)

      Elizabeth A. Lindsay, Frank Greenberg, Lisa G. Shaffer, Stuart K. Shapira, Peter J. Scambler and Antonio Baldini

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320560216

    8. Screening for mtDNA diabetes mutations in Pima Indians with NIDDM (pages 198–202)

      Bahman Sepehrnia, Toni R. Prezant, Jerome I. Rotter, David J. Pettitt, William C. Knowler and Dr. Nathan Fischel-Ghodsian

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320560217

    9. Non-random X chromosome inactivation in an affected twin in a monozygotic twin pair discordant for Wiedemann-Beckwith syndrome (pages 210–214)

      Ragnhild Eliseörstavik, Niels Tommerup, Kristin Eiklid and Karen Heleneörstavik

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320560219

    10. “C” Trigonocephaly syndrome: Report of a child with agenesis of the corpus callosum and tetralogy of Fallot, and review (pages 215–218)

      Julie Glickstein, Jeffrey Karasik, Diana Garcia Caride and Robert W. Marion

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320560220

  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. Letters to the Editor
    13. Books Received
    1. Identification of supernumerary ring chromosome 1 mosaicism using fluorescence in situ hybridization (pages 219–223)

      Harold Chen, Cathy M. Tuck-Muller, Denise A. S. Batista and Wladimir Wertelecki

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320560221

  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. Letters to the Editor
    13. Books Received
    1. FISH analysis in Prader-Willi and Angelman syndrome patients (pages 224–228)

      Dr. D. Bettio, N. Rizzi, D. Giardino, G. Grugni, V. Briscioli, A. Selicorni, F. Carnevale and L. Larizza

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320560222

    2. Craniofacial and dental characteristics of Silver-Russell syndrome (pages 229–236)

      Johanna Kotilainen, Päivi Hölttä, Tapio Mikkonen, Sirpa Arte, Ilkka Sipilä and Sinikka Pirinen

      Version of Record online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320560223

    3. Angelman syndrome: Consensus for diagnostic criteria (pages 237–238)

      Dr. Charles A. Williams, Harry Angelman, Jill Clayton-Smith, Daniel J. Driscoll, Jill E. Hendrickson, Joan H. M. Knoll, R. Ellen Magenis, Albert Schinzel, Joseph Wagstaff, Elaine M. Whidden and Roberto T. Zori

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320560224

  11. Letters to the Editor

    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. Letters to the Editor
    13. Books Received
    1. New manifestations in an infant with Neu Laxova syndrome (pages 239–240)

      Dr. Lotfollah Rouzbahani

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320560225

  12. Books Received

    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. Letters to the Editor
    13. Books Received
    1. You have free access to this content
      Books received (pages 245–246)

      Version of Record online: 7 JUN 2005 | DOI: 10.1002/ajmg.1320560227

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