American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

1 February 2005

Volume 132A, Issue 4

Pages 343–460

  1. Rapid Publications

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Research Letters
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Editorial Comments
    9. Correspondence
    1. Clinical evidence of decreased olfaction in Bardet–Biedl syndrome caused by a deletion in the BBS4 Gene (pages 343–346)

      Alessandro Iannaccone, Kirk Mykytyn, Antonio M. Persico, Charles C. Searby, Alfonso Baldi, Monica M. Jablonski and Val C. Sheffield

      Version of Record online: 14 JAN 2005 | DOI: 10.1002/ajmg.a.30512

  2. Research Articles

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Research Letters
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Editorial Comments
    9. Correspondence
    1. Joubert syndrome is not a cause of classical autism (pages 347–351)

      T.N. Takahashi, J.E. Farmer, K.K. Deidrick, B.S. Hsu, J.H. Miles and B.L. Maria

      Version of Record online: 4 JAN 2005 | DOI: 10.1002/ajmg.a.30500

    2. Clinical and genetic epidemiology of Bardet–Biedl syndrome in Newfoundland: A 22-year prospective, population-based, cohort study (pages 352–360)

      Susan J. Moore, Jane S. Green, Yanli Fan, Ashvinder K. Bhogal, Elizabeth Dicks, Bridget A. Fernandez, Mark Stefanelli, Christopher Murphy, Benvon C. Cramer, John C.S. Dean, Philip L. Beales, Nicholas Katsanis, Anne S. Bassett, William S. Davidson and Patrick S. Parfrey

      Version of Record online: 6 JAN 2005 | DOI: 10.1002/ajmg.a.30406

    3. Novel c-KIT germline mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpigmentation (pages 361–364)

      Miguel Carballo, Ignasi Roig, Francesc Aguilar, Maria Antonia Pol, María José Gamundi, Imma Hernan and María Martinez-Gimeno

      Version of Record online: 22 DEC 2004 | DOI: 10.1002/ajmg.a.30388

    4. MTHFD1 R653Q polymorphism is a maternal genetic risk factor for severe abruptio placentae (pages 365–368)

      Anne Parle-McDermott, James L. Mills, Peadar N. Kirke, Christopher Cox, Caroline C. Signore, Sandra Kirke, Anne M. Molloy, Valerie B. O'Leary, Faith J. Pangilinan, Colm O'Herlihy, Lawrence C. Brody and John M. Scott

      Version of Record online: 4 JAN 2005 | DOI: 10.1002/ajmg.a.30354

  3. Research Letters

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Research Letters
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Editorial Comments
    9. Correspondence
    1. A splicing mutation in the α/β GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy (pages 369–375)

      Richard A. Steet, Roger Hullin, Mariko Kudo, Michele Martinelli, Nils U. Bosshard, Thomas Schaffner, Stuart Kornfeld and Beat Steinmann

      Version of Record online: 4 JAN 2005 | DOI: 10.1002/ajmg.a.30498

    2. Idiopathic talipes equinovarus (ITEV) (clubfeet) in Texas (pages 376–380)

      Ranjani N. Moorthi, Syed Shahrukh Hashmi, Peter Langois, Mark Canfield, D. Kim Waller and Jacqueline T. Hecht

      Version of Record online: 4 JAN 2005 | DOI: 10.1002/ajmg.a.30505

  4. Research Articles

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Research Letters
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Editorial Comments
    9. Correspondence
    1. Axenfeld–Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome (pages 381–385)

      Kenneth Maclean, James Smith, Luke St. Heaps, Nicole Chia, Rebecca Williams, Gregory B. Peters, Ella Onikul, Tim McCrossin, Ordan J. Lehmann and Lesley C. Adès

      Version of Record online: 14 JAN 2005 | DOI: 10.1002/ajmg.a.30274

    2. Genomic and transcription studies as diagnostic tools for a prenatal detection of X-linked dilated cardiomyopathy due to a dystrophin gene mutation (pages 391–394)

      Paola Rimessi, Francesca Gualandi, Laurence Duprez, Pietro Spitali, Marcella Neri, Luciano Merlini, Elisa Calzolari, Francesco Muntoni and Alessandra Ferlini

      Version of Record online: 7 JAN 2005 | DOI: 10.1002/ajmg.a.30513

  5. Clinical Reports

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Research Letters
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Editorial Comments
    9. Correspondence
    1. Anomalies of the kidney and urinary tract are common in de Lange syndrome (pages 395–397)

      Angelo Selicorni, Cinzia Sforzini, Donatella Milani, Giacomo Cagnoli, Emilio Fossali and Mario G. Bianchetti

      Version of Record online: 4 JAN 2005 | DOI: 10.1002/ajmg.a.30445

    2. A new autosomal recessive oto-facial syndrome with midline malformations (pages 398–401)

      André Mégarbané, Eliane Chouery, Simon Rassi and Valérie Delague

      Version of Record online: 4 JAN 2005 | DOI: 10.1002/ajmg.a.30479

    3. A woman with 46,XX,dup(16)(p13.11 p13.3) and the ATR-X phenotype (pages 414–418)

      Keiko Akahoshi, Hirohumi Ohashi, Yukio Hattori, Shinji Saitoh, Yoshimitsu Fukushima and Takahito Wada

      Version of Record online: 4 JAN 2005 | DOI: 10.1002/ajmg.a.30480

    4. Three patients with terminal deletions within the subtelomeric region of chromosome 9q (pages 425–430)

      Katherine R. Neas, Janine M. Smith, Nicole Chia, Suna Huseyin, Luke St Heaps, Greg Peters, Gary Sholler, Dimitra Tzioumi, David O. Sillence and David Mowat

      Version of Record online: 4 JAN 2005 | DOI: 10.1002/ajmg.a.30496

    5. α-thalassemia/mental retardation syndrome in a 45,X male (pages 431–433)

      Richard Kellermayer, Márta Czakó, Zsuzsanna Kiss-László, Petra Gyuris, Adrienn Kozári, Béla Melegh and György Kosztolányi

      Version of Record online: 4 JAN 2005 | DOI: 10.1002/ajmg.a.30499

    6. Phenotypic expression of genotype–phenotype correlation in cystic fibrosis patients carrying the 852del22 mutation (pages 434–440)

      Angela Polizzi, Ruggiero Francavilla, Giuseppe Castaldo, Teresa Santostasi, Rossella Tomaiuolo, Antonio Manca, Francesco De Robertis, Luigi Mappa, Francesca Paola Oliverio, Francesco Salvatore and Nicola Rigillo

      Version of Record online: 4 JAN 2005 | DOI: 10.1002/ajmg.a.30493

  6. Research Letters

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Research Letters
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Editorial Comments
    9. Correspondence
    1. Bindewald syndrome: Tetralogy of Fallot, large ears, severe growth and mental retardation (pages 445–446)

      Valerica Belengeanu, Kinga Rozsnyai, Simona Farcaş and Adrian Lǎcǎtuşu

      Version of Record online: 18 NOV 2004 | DOI: 10.1002/ajmg.a.30435

    2. The genetics of tethered cord syndrome (pages 450–453)

      Alexander G. Bassuk, David Craig, Ali Jalali, Abhishek Mukhopadhyay, Francine Kim, Joel Charrow, Uzel Gulbu, Leon G. Epstein, Robin Bowman, David Mclone, Hisato Yagi, Rumiko Matsuoka, Dietrich A. Stephan and John A. Kessler

      Version of Record online: 22 NOV 2004 | DOI: 10.1002/ajmg.a.30439

  7. Editorial Comments

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

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

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