American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

1 September 2007

Volume 143A, Issue 17

Pages 1951–2084

  1. New Syndrome

    1. Top of page
    2. New Syndrome
    3. Genetic Drift
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Correspondence
    1. You have free access to this content
  2. Genetic Drift

    1. Top of page
    2. New Syndrome
    3. Genetic Drift
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Correspondence
    1. You have free access to this content
  3. Research Articles

    1. Top of page
    2. New Syndrome
    3. Genetic Drift
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Correspondence
    1. Familial thoracic aortic dilation and bicommissural aortic valve: A prospective analysis of natural history and inheritance (pages 1960–1967)

      Melissa L. Loscalzo, Denise LM Goh, Bart Loeys, Kathleen C. Kent, Philip J. Spevak and Harry C. Dietz

      Article first published online: 3 AUG 2007 | DOI: 10.1002/ajmg.a.31872

    2. Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome (pages 1968–1977)

      Svend Rand-Hendriksen, Lena Tjeldhorn, Rigmor Lundby, Svein Ove Semb, Jon Offstad, Kai Andersen, Odd Geiran and Benedicte Paus

      Article first published online: 30 JUL 2007 | DOI: 10.1002/ajmg.a.31759

    3. A case of de novo partial tetrasomy of distal 6p and review of the literature (pages 1978–1983)

      Ryan Stohler, Ellen Kucharski, Emily Farrow, Wilfredo Torres-Martinez, Paula Delk, Virginia C. Thurston and Gail H. Vance

      Article first published online: 30 JUL 2007 | DOI: 10.1002/ajmg.a.31678

    4. “Holding your breath”: Interviews with young people who have undergone predictive genetic testing for Huntington disease (pages 1984–1989)

      Rony E. Duncan, Lynn Gillam, Julian Savulescu, Robert Williamson, John G. Rogers and Martin B. Delatycki

      Article first published online: 30 JUL 2007 | DOI: 10.1002/ajmg.a.31720

    5. Association between 49 infant gene polymorphisms and preterm delivery (pages 1990–1996)

      Brian H. Chen, Suzan L. Carmichael, Gary M. Shaw, David M. Iovannisci and Edward J. Lammer

      Article first published online: 3 AUG 2007 | DOI: 10.1002/ajmg.a.31868

    6. Polymorphisms in folate and homocysteine metabolizing genes and chromosome damage in mothers of Down syndrome children (pages 2006–2015)

      Fabio Coppedè, Renato Colognato, Alessia Bonelli, Guja Astrea, Stefania Bargagna, Gabriele Siciliano and Lucia Migliore

      Article first published online: 13 AUG 2007 | DOI: 10.1002/ajmg.a.31886

  4. Clinical Reports

    1. Top of page
    2. New Syndrome
    3. Genetic Drift
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Correspondence
    1. Primary amenorrhea and absent uterus in the 22q11.2 deletion syndrome (pages 2016–2018)

      Usha T. Sundaram, Donna M. McDonald-McGinn, Dale Huff, Beverly S. Emanuel, Elaine H. Zackai, Deborah A. Driscoll and Joann Bodurtha

      Article first published online: 3 AUG 2007 | DOI: 10.1002/ajmg.a.31736

    2. A girl with duplication 9q34 syndrome (pages 2019–2023)

      Katarzyna Gawlik-Kuklinska, Mariola Iliszko, Agnieszka Wozniak, Maria Debiec-Rychter, Iwona Kardas, Jolanta Wierzba and Janusz Limon

      Article first published online: 30 JUL 2007 | DOI: 10.1002/ajmg.a.31847

    3. Cerebellar atrophy in Schimke-immuno-osseous dysplasia (pages 2040–2045)

      Thomas Lücke, Johanna M. Clewing, Cornelius F. Boerkoel, Hans Hartmann, Anibh M. Das, Michael Knauth, Hartmut Becker and Frank Donnerstag

      Article first published online: 3 AUG 2007 | DOI: 10.1002/ajmg.a.31878

    4. Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation (pages 2046–2051)

      François-Guillaume Debray, Marie Lambert, Anne Lortie, Michel Vanasse and Grant A. Mitchell

      Article first published online: 30 JUL 2007 | DOI: 10.1002/ajmg.a.31880

    5. ICF syndrome: High variability of the chromosomal phenotype and association with classical Hodgkin lymphoma (pages 2052–2057)

      C. Schuetz, G. Barbi, T.F.E. Barth, M. Hoenig, A. Schulz, P. Möeller, D. Smeets, J.C. de Greef, S.M. van der Maarel, W. Vogel, K.-M. Debatin and W. Friedrich

      Article first published online: 13 AUG 2007 | DOI: 10.1002/ajmg.a.31885

  5. Research Letters

    1. Top of page
    2. New Syndrome
    3. Genetic Drift
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Correspondence
    1. Homozygous myotonic dystrophy: Clinical findings in two patients and review of the literature (pages 2058–2061)

      Christine Zühlke, Elizabeth Roeder, Sabine Purmann, Dagmar Wieczorek, Cynthia Curry, Cheri Loustalet, Yorck Hellenbroich, Hans Helmut Richardt and Gabriele Gillessen-Kaesbach

      Article first published online: 30 JUL 2007 | DOI: 10.1002/ajmg.a.31772

    2. Cardiac findings in Weill–Marchesani syndrome (pages 2062–2064)

      Javad Kojuri, Mohammad Reza Razeghinejad and Amir Aslani

      Article first published online: 30 JUL 2007 | DOI: 10.1002/ajmg.a.31861

    3. A longitudinal case study of a child with mosaic trisomy 22: Language, cognitive, behavioral, physical, and dental outcomes (pages 2070–2074)

      Barbara Lewis, Sarah Fulton, Elizabeth Short, Suchitra Nelson, Giuseppina Lombardi, Daniel Rosenbaum, Carolyn Kercsmar, Jill Baley and Lynn T. Singer

      Article first published online: 30 JUL 2007 | DOI: 10.1002/ajmg.a.31866

    4. Interferon regulatory factor 6 (IRF6) is associated with oral-facial cleft in individuals that originate in South America (pages 2075–2078)

      Alexandre R. Vieira, Margaret E. Cooper, Mary L. Marazita, Iêda M. Orioli and Eduardo E. Castilla

      Article first published online: 13 AUG 2007 | DOI: 10.1002/ajmg.a.31884

  6. Correspondence

    1. Top of page
    2. New Syndrome
    3. Genetic Drift
    4. Research Articles
    5. Clinical Reports
    6. Research Letters
    7. Correspondence
    1. Neurofibromatosis type 1 is a genetic skeletal disorder (pages 2082–2083)

      David A. Stevenson, David H. Viskochil and John C. Carey

      Article first published online: 13 AUG 2007 | DOI: 10.1002/ajmg.a.31758

    2. “Is NF1 a genetic skeletal disorder?”—A response (page 2084)

      Sheila Unger and Andrea Superti-Furga

      Article first published online: 13 JUL 2007 | DOI: 10.1002/ajmg.a.31762

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