American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

15 June 2007

Volume 143A, Issue 12

Pages 1261–1395

  1. Editorial Comments

    1. Top of page
    2. Editorial Comments
    3. Correspondence
    4. Clinical Reports
    5. Rapid Publications
    6. New Syndrome
    7. Research Reviews
    8. Abstracts
    9. Genetic Drift
    10. Research Articles
    11. Clinical Reports
    12. Research Letters
    13. Correspondence
  2. Correspondence

    1. Top of page
    2. Editorial Comments
    3. Correspondence
    4. Clinical Reports
    5. Rapid Publications
    6. New Syndrome
    7. Research Reviews
    8. Abstracts
    9. Genetic Drift
    10. Research Articles
    11. Clinical Reports
    12. Research Letters
    13. Correspondence
  3. Clinical Reports

    1. Top of page
    2. Editorial Comments
    3. Correspondence
    4. Clinical Reports
    5. Rapid Publications
    6. New Syndrome
    7. Research Reviews
    8. Abstracts
    9. Genetic Drift
    10. Research Articles
    11. Clinical Reports
    12. Research Letters
    13. Correspondence
    1. Bipolar affective disorder associated with 11q24.2 disruption—A second report (pages 1263–1267)

      William Reardon, Adam Dunlop, Simon T. Holden and Richard Blennerhassett

      Version of Record online: 11 MAY 2007 | DOI: 10.1002/ajmg.a.31749

  4. Rapid Publications

    1. Top of page
    2. Editorial Comments
    3. Correspondence
    4. Clinical Reports
    5. Rapid Publications
    6. New Syndrome
    7. Research Reviews
    8. Abstracts
    9. Genetic Drift
    10. Research Articles
    11. Clinical Reports
    12. Research Letters
    13. Correspondence
    1. The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): Report of eight cases including a living child and further evidence for autosomal recessive inheritance (pages 1268–1281)

      David Chitayat, Hana Sroka, Sarah Keating, Randall S. Colby, Greg Ryan, Ants Toi, Susan Blaser, Sandra Viero, Louise Devisme, Odile Boute-Bénéjean, Sylvie Manouvrier-Hanu, Geert Mortier, Bart Loeys, Anita Rauch and Pierre Bitoun

      Version of Record online: 15 MAY 2007 | DOI: 10.1002/ajmg.a.31788

  5. New Syndrome

    1. Top of page
    2. Editorial Comments
    3. Correspondence
    4. Clinical Reports
    5. Rapid Publications
    6. New Syndrome
    7. Research Reviews
    8. Abstracts
    9. Genetic Drift
    10. Research Articles
    11. Clinical Reports
    12. Research Letters
    13. Correspondence
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      A newly recognized craniosynostosis syndrome with features of Aarskog–Scott and Teebi syndromes (pages 1282–1286)

      Jodi D. Hoffman, Mira Irons, Charles E. Schwartz, Livija Medne and Elaine H. Zackai

      Version of Record online: 15 MAY 2007 | DOI: 10.1002/ajmg.a.31780

  6. Research Reviews

    1. Top of page
    2. Editorial Comments
    3. Correspondence
    4. Clinical Reports
    5. Rapid Publications
    6. New Syndrome
    7. Research Reviews
    8. Abstracts
    9. Genetic Drift
    10. Research Articles
    11. Clinical Reports
    12. Research Letters
    13. Correspondence
    1. Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance (pages 1287–1296)

      Antonie D. Kline, Ian D. Krantz, Annemarie Sommer, Mark Kliewer, Laird G. Jackson, David R. FitzPatrick, Alex V. Levin and Angelo Selicorni

      Version of Record online: 16 MAY 2007 | DOI: 10.1002/ajmg.a.31757

  7. Abstracts

    1. Top of page
    2. Editorial Comments
    3. Correspondence
    4. Clinical Reports
    5. Rapid Publications
    6. New Syndrome
    7. Research Reviews
    8. Abstracts
    9. Genetic Drift
    10. Research Articles
    11. Clinical Reports
    12. Research Letters
    13. Correspondence
  8. Genetic Drift

    1. Top of page
    2. Editorial Comments
    3. Correspondence
    4. Clinical Reports
    5. Rapid Publications
    6. New Syndrome
    7. Research Reviews
    8. Abstracts
    9. Genetic Drift
    10. Research Articles
    11. Clinical Reports
    12. Research Letters
    13. Correspondence
    1. You have free access to this content
  9. Research Articles

    1. Top of page
    2. Editorial Comments
    3. Correspondence
    4. Clinical Reports
    5. Rapid Publications
    6. New Syndrome
    7. Research Reviews
    8. Abstracts
    9. Genetic Drift
    10. Research Articles
    11. Clinical Reports
    12. Research Letters
    13. Correspondence
    1. Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23-p16 region (pages 1308–1312)

      Nursel H. Elcioglu, Burcu Akin, Ebru Toker, Mustafa Elcioglu, Ali Kaya, Timur Tuncali, Bernd Wollnik, Stella Hornby and Nurten A. Akarsu

      Version of Record online: 15 MAY 2007 | DOI: 10.1002/ajmg.a.31766

    2. Comprehensive EMX2 genotyping of a large schizencephaly case series (pages 1313–1316)

      Ian Tietjen, Adria Bodell, Kira Apse, Ashley M. Mendonza, Bernard S. Chang, Gary M. Shaw, A. James Barkovich, Edward J. Lammer and Christopher A. Walsh

      Version of Record online: 15 MAY 2007 | DOI: 10.1002/ajmg.a.31767

    3. Oculo-auriculo-vertebral spectrum: Associated anomalies, functional deficits and possible developmental risk factors (pages 1317–1325)

      Kerstin Strömland, Marilyn Miller, Lotta Sjögreen, Maria Johansson, Britt-Marie Ekman Joelsson, Eva Billstedt, Christopher Gillberg, Susanna Danielsson, Catharina Jacobsson, Jan Andersson-Norinder and Gösta Granström

      Version of Record online: 15 MAY 2007 | DOI: 10.1002/ajmg.a.31769

    4. Associations of osseous abnormalities in Neurofibromatosis 1 (pages 1326–1333)

      S. Alwan, L. Armstrong, H. Joe, P.H. Birch, J. Szudek and J.M. Friedman

      Version of Record online: 15 MAY 2007 | DOI: 10.1002/ajmg.a.31754

  10. Clinical Reports

    1. Top of page
    2. Editorial Comments
    3. Correspondence
    4. Clinical Reports
    5. Rapid Publications
    6. New Syndrome
    7. Research Reviews
    8. Abstracts
    9. Genetic Drift
    10. Research Articles
    11. Clinical Reports
    12. Research Letters
    13. Correspondence
    1. dup(8p)/del(8q) recombinant chromosome in a girl with hepatic focal nodular hyperplasia (pages 1334–1337)

      Tomoharu Tokutomi, Shin Hayashi, Kohsuke Imai, Ayako Chida, Takahiro Ishiwata, Yuh Asano, Johji Inazawa and Shigeaki Nonoyama

      Version of Record online: 15 MAY 2007 | DOI: 10.1002/ajmg.a.31770

    2. Chorea associated with antiphospholipid antibodies in a patient with Kabuki syndrome (pages 1338–1341)

      Pooja Gidwani, Eric Segal, Alan Shanske and Catherine Driscoll

      Version of Record online: 15 MAY 2007 | DOI: 10.1002/ajmg.a.31774

    3. Fortuitous FISH diagnosis of an interstitial microdeletion (5)(q31.1q31.2) in a girl suspected to present a cri-du-chat syndrome (pages 1342–1347)

      A.L. Mosca, P. Callier, B. Leheup, N. Marle, M. Jalloul, L. Coffinet, F. Feillet, M. Valduga, P. Jonveaux and F. Mugneret

      Version of Record online: 15 MAY 2007 | DOI: 10.1002/ajmg.a.31742

    4. Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardation (pages 1348–1353)

      Annika M. Svensson, Cynthia J. Curry, Sarah T. South, Heidi Whitby, Teresa M. Maxwell, Emily Aston, Jamie Fisher, C.E. Carmack, Alicia Scheffer, Aimee Abu-Shamsieh and Arthur R. Brothman

      Version of Record online: 15 MAY 2007 | DOI: 10.1002/ajmg.a.31775

    5. Interstitial deletion of 6q without phenotypic effect (pages 1354–1357)

      Kerstin Hansson, Karoly Szuhai, Jeroen Knijnenburg, Arie van Haeringen and Joke de Pater

      Version of Record online: 15 MAY 2007 | DOI: 10.1002/ajmg.a.31783

    6. Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation (pages 1358–1365)

      Frank J. Probst, Elizabeth R. Roeder, Victoria B. Enciso, Zhishuo Ou, M. Lance Cooper, Patricia Eng, Jiangzhen Li, Yanghong Gu, Robert F. Stratton, A. Craig Chinault, Chad A. Shaw, V. Reid Sutton, Sau Wai Cheung and David L. Nelson

      Version of Record online: 15 MAY 2007 | DOI: 10.1002/ajmg.a.31781

    7. Report of a child with a complete de novo 17p duplication localized to the terminal region of the long arm of chromosome 17 (pages 1366–1370)

      Giorgio A. Paskulin, Paulo R.G. Zen, Rafael F.M. Rosa, Rosana C. Manique and Philip D. Cotter

      Version of Record online: 15 MAY 2007 | DOI: 10.1002/ajmg.a.31785

    8. Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): Sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality (pages 1371–1378)

      Christian Kranz, Alice A. Basinger, Müge Güçsavaş-Çalıkoğlu, Liangwu Sun, Cynthia M. Powell, Frederick W. Henderson, Arthur S. Aylsworth and Hudson H. Freeze

      Version of Record online: 15 MAY 2007 | DOI: 10.1002/ajmg.a.31791

  11. Research Letters

    1. Top of page
    2. Editorial Comments
    3. Correspondence
    4. Clinical Reports
    5. Rapid Publications
    6. New Syndrome
    7. Research Reviews
    8. Abstracts
    9. Genetic Drift
    10. Research Articles
    11. Clinical Reports
    12. Research Letters
    13. Correspondence
    1. Hepatic vascular malformation in a patient with Simpson–Golabi–Behmel syndrome (pages 1379–1381)

      Elizabeth Cureton, Hua Guo, Olajire Idowu and Sunghoon Kim

      Version of Record online: 11 MAY 2007 | DOI: 10.1002/ajmg.a.31756

    2. Fetal and maternal CYP2E1 genotypes and the risk of nonsyndromic oral clefts (pages 1382–1385)

      Cécile Chevrier, Claire Perret, Michel Bahuau, Agnès Nelva, Christine Herman, Christine Francannet, Elisabeth Robert-Gnansia and Sylvaine Cordier

      Version of Record online: 15 MAY 2007 | DOI: 10.1002/ajmg.a.31779

  12. Correspondence

    1. Top of page
    2. Editorial Comments
    3. Correspondence
    4. Clinical Reports
    5. Rapid Publications
    6. New Syndrome
    7. Research Reviews
    8. Abstracts
    9. Genetic Drift
    10. Research Articles
    11. Clinical Reports
    12. Research Letters
    13. Correspondence
    1. A triploid fetus further expands etiological heterogeneity in holoprosencephaly-diencephalic hamartoblastoma (pages 1391–1393)

      Marco Castori, Evelina Silvestri, Josè Nunnari, Paola Grammatico and Bruno Dallapiccola

      Version of Record online: 11 MAY 2007 | DOI: 10.1002/ajmg.a.31763

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