American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

May 1990

Volume 36, Issue 1

Pages fmi–fmi, 1–131

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. New Syndrome
    7. Articles
    1. Masthead (page fmi)

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320360101

  2. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. New Syndrome
    7. Articles
    1. Autosomal dominant tibial hemimelia–polysyndactyly-triphalangeal thumbs syndrome: Report of a Brazilian family (pages 1–6)

      A. Richieri-Costa, E. de Miranda, T. Y. Kamiya and D. V. Freire-Maia

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320360102

    2. Apparently nonmosaic trisomy 22: Clinical report and review (pages 7–10)

      T. S. Sundareshan, K. K. Naguib, Dr. S. A. Al-Awadi, M. A. Redha and M. S. Hamoud

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320360103

    3. Trisomy 22 in a liveborn infant with multiple congenital anomalies (pages 11–14)

      Elspeth McPherson and Dr. Daniel G. Stetka

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320360104

    4. Infantile hypophosphatasia: Autosomal recessive transmission to two related sibships (pages 15–22)

      Cynthia A. Moore, Jewell C. Ward, Marian L. Rivas, H. Lynn Magill and Michael P. Whyte

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320360105

    5. Åland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia (pages 23–28)

      De-Ann M. Pillers, Richard G. Weleber, Berkley R. Powell, Cheryl E. Hanna, R. Ellen Magenis and Neil R. M. Buist

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320360106

  3. Brief Clinical Report

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. New Syndrome
    7. Articles
    1. Double chromosome anomaly: Interstitial deletion 5q and reciprocal translocation (1;11) (p22;q21) (pages 29–32)

      Dr. María I. de Michelena, Jorge Villacorta and Julio Chávez

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320360107

  4. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. New Syndrome
    7. Articles
    1. A prevalence study of rett syndrome in an institutionalized population (pages 33–36)

      Larry Burd, John T. Martsolf and Tim Randall

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320360108

    2. Obesity, hypertension, and renal disease in relatives of Bardet-Biedl syndrome sibs (pages 37–42)

      Janet B. Croft and Dr. Michael Swift

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320360109

    3. Duplication of euchromatin without phenotypic effects: A variant of chromosome 16 (pages 43–44)

      Christine R. Bryke, W. Roy Breg, Venkateswara R. Potluri and Teresa L. Yang-Feng

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320360110

    4. Detection of heterozygotes for recessive alleles. Homocyst(e)inemia: Paradigm of Pitfalls in phenotypes (pages 45–52)

      James J. McGill, Gabrielle Mettler, David S. Rosenblatt and Dr. Charles R. Scriver

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320360111

    5. Terminal deletions of the long arm of chromosome 7: Five new cases (pages 53–55)

      Mark H. Bogart, Christopher Cunniff, Christy Bradshaw, Kenneth Lyons Jones and O. W. Jones

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320360112

    6. Multiple congenital anomalies associated with a 47,XXX chromosome constitution (pages 73–75)

      Dr. Opal J. Hood, Elizabeth A. Hartwell, Karen E. Shattuck and Harvey S. Rosenberg

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320360114

    7. Identification of deletion and triple α-globin gene haplotypes in the montreal β-thalassemia screening program: Implications for genetic medicine (pages 76–84)

      Beverly R. Akerman, T. Mary Fujiwara, Gerald A. Lancaster, Kenneth Morgan and Dr. Charles R. Scriver

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320360115

    8. You have free access to this content
      The UCLA–university of Utah epidemiologic survey of autism: Genealogical analysis of familial aggregation (pages 85–88)

      L. B. Jorde, A. Mason-Brothers, R. Waldmann, E. R. Ritvo, B. J. Freeman, C. Pingree, W. M. McMahon, B. Petersen, W. R. Jenson and A. Mo

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320360116

  5. New Syndrome

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. New Syndrome
    7. Articles
    1. A new syndrome of dwarfism, brachydactyly, nail dysplasia, and mental retardation in sibs (pages 89–93)

      Hidefumi Tonoki, Tatsuya Kishino and Norio Niikawa

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320360117

  6. Articles

    1. Top of page
    2. Masthead
    3. Articles
    4. Brief Clinical Report
    5. Articles
    6. New Syndrome
    7. Articles
    1. Midtrimester diagnosis and anomalies in the dup(22q) syndrome: Correlation of aneuploidy with low maternal serum alpha-fetoprotein and oligohydramnios (pages 94–96)

      Mark Paul Johnson, Anne Greb, Gregory Goyert, Arie Drugan, Faisal Qureshi, Alan J. Sacks and Mark I. Evans

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320360118

    2. Evidence for a major gene in familial anencephaly (pages 97–101)

      Lisa G. Shaffer, Mary L. Marazita, Joann Bodurtha, Anna Newlin and Walter E. Nance

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320360119

    3. Neonatal-onset panhypopituitarism in a girl with Brachmann-De Lange syndrome (pages 102–103)

      G. Tonini and Dr. S. Marinoni

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320360120

    4. DNA linkage analysis and studies of the androgen receptor gene in a large kindred with complete androgen insensitivity (pages 104–108)

      Dr. Julianne Imperato-McGinley, Nancy Y. Ip, Teofilo Gautier, John Neuweiler, Harry Gruenspan, Shutsung Liao, Chawnshang Chang and Ivan Balazs

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320360121

    5. The thoracoabdominal syndrome (TAS): A new X-linked dominant disorder (pages 109–114)

      Dr. R. Carmi, A. Barbash and A. J. Mares

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320360122

    6. Angular homeostasis: VI. Threshold processes with bivariate liabilities (pages 115–121)

      Dr. E. A. Murphy, K. R. Berger, R. E. Pyeritz and Y. Sagawa

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320360123

    7. Two brothers with mental retardation discordant for the Fragile-X syndrome (pages 122–125)

      Bernadette C. van Roy, Dr. Patrick J. Willems, Lieve J. Vits, Berten P. Ceulemans, Paul J. Coucke, Bart J. van der Auwera, Jacques A. G. Lormans and Jan E. Dumon

      Article first published online: 3 JUN 2005 | DOI: 10.1002/ajmg.1320360124

    8. Another model for the inheritance of Rett syndrome (pages 126–131)

      Erica M. Bühler, Naseem J. Malik and Muallâ Alkan

      Article first published online: 5 JUN 2005 | DOI: 10.1002/ajmg.1320360125

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