American Journal of Medical Genetics Part A

Cover image for Vol. 146A Issue 19

1 October 2008

Volume 146A, Issue 19

Pages 2449–2582

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Rapid Publications
    4. Research Articles
    5. Clinical Reports
    6. Research Articles
    7. Clinical Reports
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    1. Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an ∼5 Mb deletion del(11)(q24.3) (pages 2449–2454)

      Joanna Bernaciak, Krzysztof Szczałuba, Katarzyna Derwińska, Barbara Wiśniowiecka-Kowalnik, Ewa Bocian, Maria Małgorzata Sąsiadek, Izabela Makowska, Paweł Stankiewicz and Robert Śmigiel

      Version of Record online: 15 SEP 2008 | DOI: 10.1002/ajmg.a.32490

  2. Rapid Publications

    1. Top of page
    2. Research Articles
    3. Rapid Publications
    4. Research Articles
    5. Clinical Reports
    6. Research Articles
    7. Clinical Reports
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
  3. Research Articles

    1. Top of page
    2. Research Articles
    3. Rapid Publications
    4. Research Articles
    5. Clinical Reports
    6. Research Articles
    7. Clinical Reports
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    1. Hardikar syndrome: Long term outcome of a rare genetic disorder (pages 2468–2472)

      Andreas Nydegger, Maria Van Dyck, Robert A. Fisher, Jaak Jaeken and Winita Hardikar

      Version of Record online: 17 MAR 2008 | DOI: 10.1002/ajmg.a.32226

  4. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Rapid Publications
    4. Research Articles
    5. Clinical Reports
    6. Research Articles
    7. Clinical Reports
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    1. Hardikar syndrome: New features (pages 2473–2479)

      J. Rainer Poley and Virginia K. Proud

      Version of Record online: 15 SEP 2008 | DOI: 10.1002/ajmg.a.32266

  5. Research Articles

    1. Top of page
    2. Research Articles
    3. Rapid Publications
    4. Research Articles
    5. Clinical Reports
    6. Research Articles
    7. Clinical Reports
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    1. Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement (pages 2480–2489)

      Zhishuo Ou, Donna M. Martin, Jirair K. Bedoyan, M. Lance Cooper, A. Craig Chinault, Pawel Stankiewicz and Sau W. Cheung

      Version of Record online: 29 JUL 2008 | DOI: 10.1002/ajmg.a.32398

  6. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Rapid Publications
    4. Research Articles
    5. Clinical Reports
    6. Research Articles
    7. Clinical Reports
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    1. Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly (pages 2490–2494)

      Sirpa Ala-Mello, Linda Siggberg, Sakari Knuutila, Harriet von Koskull, Mervi Taskinen and Maarit Peippo

      Version of Record online: 15 SEP 2008 | DOI: 10.1002/ajmg.a.32479

  7. Research Articles

    1. Top of page
    2. Research Articles
    3. Rapid Publications
    4. Research Articles
    5. Clinical Reports
    6. Research Articles
    7. Clinical Reports
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    1. Agenesis of the corpus callosum in California 1983–2003: A population-based study (pages 2495–2500)

      Hannah C. Glass, Gary M. Shaw, Chen Ma and Elliott H. Sherr

      Version of Record online: 18 JUL 2008 | DOI: 10.1002/ajmg.a.32418

    2. Agenesis and dysgenesis of the corpus callosum: Clinical, genetic and neuroimaging findings in a series of 41 patients (pages 2501–2511)

      Chayim Can Schell-Apacik, Kristina Wagner, Moritz Bihler, Birgit Ertl-Wagner, Uwe Heinrich, Eva Klopocki, Vera M. Kalscheuer, Maximilian Muenke and Hubertus von Voss

      Version of Record online: 15 SEP 2008 | DOI: 10.1002/ajmg.a.32476

    3. Genotype–phenotype correlations in Rubinstein–Taybi syndrome (pages 2512–2519)

      E.K. Schorry, M. Keddache, N. Lanphear, J.H. Rubinstein, S. Srodulski, D. Fletcher, R.I. Blough-Pfau and G.A. Grabowski

      Version of Record online: 15 SEP 2008 | DOI: 10.1002/ajmg.a.32424

    4. High copper levels and increased elastolysis in a patient with cutis marmorata teleangiectasia congenita (pages 2520–2527)

      Aleksander Hinek, Shailly Jain, Glenn Taylor, David Nykanen and David Chitayat

      Version of Record online: 15 SEP 2008 | DOI: 10.1002/ajmg.a.32474

    5. Seizure frequency in adults with Wolf–Hirschhorn syndrome (pages 2528–2531)

      Jeanie C. Worthington, Alan S. Rigby and Oliver W. Quarrell

      Version of Record online: 15 SEP 2008 | DOI: 10.1002/ajmg.a.32483

  8. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Rapid Publications
    4. Research Articles
    5. Clinical Reports
    6. Research Articles
    7. Clinical Reports
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    1. Perlman syndrome: Report, prenatal findings and review (pages 2532–2537)

      Jean-Luc Alessandri, Fabrice Cuillier, Duksha Ramful, Sandrine Ernould, Stéphanie Robin, Stefan de Napoli-Cocci, Jean-Pierre Rivière and Sylvie Rossignol

      Version of Record online: 8 SEP 2008 | DOI: 10.1002/ajmg.a.32391

    2. Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression (pages 2538–2544)

      Maria-Veronica Munoz-Rojas, Taiane Vieira, Ronaldo Costa, Simone Fagondes, Angela John, Laura Bannach Jardim, Leonardo M. Vedolin, Marcia Raymundo, Patricia I. Dickson, Emil Kakkis and Roberto Giugliani

      Version of Record online: 15 SEP 2008 | DOI: 10.1002/ajmg.a.32294

    3. Antenatal and postnatal evidence of periventricular leukomalacia as a further indication of vascular disruption in Adams–Oliver syndrome (pages 2545–2550)

      Eleftheria Papadopoulou, Stavros Sifakis, Maria Raissaki, Ioannis Germanakis and Maria Kalmanti

      Version of Record online: 15 SEP 2008 | DOI: 10.1002/ajmg.a.32410

    4. BMPR2 mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia (pages 2551–2556)

      Christina M. Rigelsky, Constance Jennings, Rainer Lehtonen, Omar A. Minai, Charis Eng and Micheala A. Aldred

      Version of Record online: 15 SEP 2008 | DOI: 10.1002/ajmg.a.32468

    5. Laurin–Sandrow syndrome: Review and redefinition (pages 2557–2565)

      Adrián Mariño-Enríquez, Pablo Lapunzina, Félix Omeñaca, Carmen Morales and José I. Rodríguez

      Version of Record online: 15 SEP 2008 | DOI: 10.1002/ajmg.a.32393

  9. Research Letters

    1. Top of page
    2. Research Articles
    3. Rapid Publications
    4. Research Articles
    5. Clinical Reports
    6. Research Articles
    7. Clinical Reports
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    1. Short 9q interstitial deletion in a neonate with lethal non-immune hydrops (pages 2566–2569)

      Maria Sellitto, Rita Genesio, Anna Conti, Floriana Fabbrini, Lucio Nitsch, Maria D'Armiento, Letizia Capasso, Roberto Paludetto and Francesco Raimondi

      Version of Record online: 8 SEP 2008 | DOI: 10.1002/ajmg.a.32350

    2. A cryptic unbalanced translocation resulting in del 13q and dup 15q (pages 2570–2573)

      Alexandra Tészás, Rikke S. Møller, Richard Kellermayer, Márta Czakó, Klaus W. Kjaer, Reinhard Ullmann, Béla Melegh, Niels Tommerup and György Kosztolányi

      Version of Record online: 15 SEP 2008 | DOI: 10.1002/ajmg.a.32394

    3. Split hand foot malformation with whorl-like pigmentary pattern: Phenotypic expression of somatic mosaicism for the p63 mutation (pages 2574–2577)

      Rika Kosaki, Yoko Naito, Chiharu Torii, Takao Takahashi, Tatsuo Nakajima and Kenjiro Kosaki

      Version of Record online: 15 SEP 2008 | DOI: 10.1002/ajmg.a.32415

SEARCH

SEARCH BY CITATION