American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

15 September 2006

Volume 140A, Issue 18

Pages 1893–1990

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Correspondence
    6. Errata
    1. Impact of neurofibromatosis 1 on Quality of Life: A cross-sectional study of 176 American cases (pages 1893–1898)

      Patricia Z. Page, Grier P. Page, Emmanuel Ecosse, Bruce R. Korf, Alain Leplege and Pierre Wolkenstein

      Version of Record online: 11 AUG 2006 | DOI: 10.1002/ajmg.a.31422

    2. SALL1 mutations in sporadic Townes–Brocks syndrome are of predominantly paternal origin without obvious paternal age effect (pages 1904–1908)

      Johann Böhm, Susanne Munk-Schulenburg, Stephanie Felscher and Jürgen Kohlhase

      Version of Record online: 4 AUG 2006 | DOI: 10.1002/ajmg.a.31383

    3. A previously unreported mutation in a Currarino syndrome kindred (pages 1923–1930)

      Raymond Y. Wang, Julie R. Jones, Steve Chen, R. Curtis Rogers, Michael J. Friez, Charles E. Schwartz and John M. Graham Jr.

      Version of Record online: 11 AUG 2006 | DOI: 10.1002/ajmg.a.31420

    4. Array comparative genomic hybridization analysis in first-trimester spontaneous abortions with ‘normal’ karyotypes (pages 1931–1935)

      Osamu Shimokawa, Naoki Harada, Noriko Miyake, Kanako Satoh, Takeshi Mizuguchi, Norio Niikawa and Naomichi Matsumoto

      Version of Record online: 11 AUG 2006 | DOI: 10.1002/ajmg.a.31421

    5. Prevalence of Angelman syndrome and Prader–Willi syndrome in Estonian children: Sister syndromes not equally represented (pages 1936–1943)

      Eve Õiglane-Shlik, Tiina Talvik, Riina Žordania, Haide Põder, Tiina Kahre, Elve Raukas, Tiiu Ilus, Gunnar Tasa, Oliver Bartsch, Marja-Leena Väisänen and Katrin Õunap

      Version of Record online: 11 AUG 2006 | DOI: 10.1002/ajmg.a.31423

    6. Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases (pages 1944–1949)

      Pasquale Striano, Michela Malacarne, Simona Cavani, Mauro Pierluigi, Rosanna Rinaldi, Maria Luigia Cavaliere, Maria Michela Rinaldi, Carmelilia De Bernardo, Antonietta Coppola, Maria Pintaudi, Roberto Gaggero, Paola Grammatico, Salvatore Striano, Bruno Dallapiccola, Federico Zara and Francesca Faravelli

      Version of Record online: 11 AUG 2006 | DOI: 10.1002/ajmg.a.31435

  2. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Correspondence
    6. Errata
    1. High cognitive functioning and behavioral phenotype in Pallister-Killian syndrome (pages 1950–1954)

      Heather J. Stalker, B.A. Gray, A. Bent-Williams and R.T. Zori

      Version of Record online: 11 AUG 2006 | DOI: 10.1002/ajmg.a.31403

    2. Epiphyseal dysplasia and other skeletal anomalies in a patient with the 6p25 microdeletion syndrome (pages 1955–1959)

      Peter Kannu, Paul Oei, Howard R. Slater, Ouda Khammy and Salim Aftimos

      Version of Record online: 11 AUG 2006 | DOI: 10.1002/ajmg.a.31411

    3. Atrioventricular block and wiry hair in Teebi hypertelorism syndrome (pages 1960–1964)

      Xiao-Dong Han, Vicki Cox and Anne Slavotinek

      Version of Record online: 11 AUG 2006 | DOI: 10.1002/ajmg.a.31439

  3. Research Letters

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Correspondence
    6. Errata
    1. Bannayan–Riley–Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation (pages 1965–1969)

      Loredana Boccone, Valentina Dessì, Antonietta Zappu, Silvia Piga, Maria Bonaria Piludu, Marco Rais, Carlo Massidda, Stefano De Virgiliis, Antonio Cao and Georgios Loudianos

      Version of Record online: 7 AUG 2006 | DOI: 10.1002/ajmg.a.31396

    2. Additional evidence that PTPN11 mutations play only a minor role in the pathogenesis of non-syndromic atrioventricular canal defect (pages 1970–1972)

      Anna Sarkozy, Francesca Lepri, Bruno Marino, Antonio Pizzuti, M. Cristina Digilio and Bruno Dallapiccola

      Version of Record online: 4 AUG 2006 | DOI: 10.1002/ajmg.a.31394

    3. XX male with sex reversal and a de novo 11;22 translocation (pages 1973–1977)

      Merryn V.E. Macville, Wim H. Loneus, Dominique Marcus-Soekarman, Erik H.L.P.G. Huys, Eric F.P.M. Schoenmakers, April Schrank-Hacker, Beverly S. Emanuel and John J.M. Engelen

      Version of Record online: 7 AUG 2006 | DOI: 10.1002/ajmg.a.31397

    4. A non-obese boy with Prader-Willi syndrome shows cardiopulmonary impairment due to severe kyphoscoliosis (pages 1978–1980)

      Tomoharu Tokutomi, Ayako Chida, Yuh Asano, Takahiro Ishiwata, Yuji Koike, Akira Motegi, Takashi Asazuma and Shigeaki Nonoyama

      Version of Record online: 11 AUG 2006 | DOI: 10.1002/ajmg.a.31410

    5. Tetralogy of Fallot with absent pulmonary valve in a de novo derivative chromosome 9 with duplication of 9p13 [RIGHTWARDS ARROW] 9pter and deletion of 9q34.3 (pages 1981–1987)

      Montakarn Tansatit, Narisorn Kongruttanachok, Walaiwan Kongnak, Suparp Arunpan, Pikul Maneeshote, Vanida Buasorn, Verayuth Praphanphoj and Vorasuk Shotelersuk

      Version of Record online: 11 AUG 2006 | DOI: 10.1002/ajmg.a.31424

  4. Correspondence

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Correspondence
    6. Errata
  5. Errata

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Correspondence
    6. Errata
    1. You have free access to this content
      Consanguineous marriage and congenital heart defects: A case-control study in the neonatal period (page 1990)

      Yunis Khalid, Mumtaz Ghina, Bitar Fadi, Chamseddine Fadi, Kassar May, Rashkidi Joseph, Ghaith Makhoul and Tamim Hala

      Version of Record online: 18 AUG 2006 | DOI: 10.1002/ajmg.a.31409

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