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American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

1 January 2007

Volume 143A, Issue 1

Pages 1–105

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Correspondence
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      Neuropathic features in fragile X premutation carriers (pages 19–26)

      Elizabeth Berry-Kravis, Christopher G. Goetz, Maureen A. Leehey, Randi J. Hagerman, Lin Zhang, Lexin Li, Danh Nguyen, Deborah A. Hall, Nicole Tartaglia, Jennifer Cogswell, Flora Tassone and Paul J. Hagerman

      Version of Record online: 6 DEC 2006 | DOI: 10.1002/ajmg.a.31559

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      Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly (pages 27–32)

      Christina A. Gurnett, Anne M. Bowcock, Frederick R. Dietz, Jose A. Morcuende, Jeffrey C. Murray and Matthew B. Dobbs

      Version of Record online: 6 DEC 2006 | DOI: 10.1002/ajmg.a.31563

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      A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia (pages 33–41)

      Emmanuelle Sarzi, Michael D. Brown, Sophie Lebon, Dominique Chretien, Arnold Munnich, Agnès Rotig and Vincent Procaccio

      Version of Record online: 6 DEC 2006 | DOI: 10.1002/ajmg.a.31565

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  2. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Correspondence
    1. You have free access to this content
      Terminal osseous dysplasia with pigmentary defects: Clinical description of a new family (pages 51–57)

      Anna Baroncini, Pia Castelluccio, Manuela Morleo, Fiorenza Soli and Brunella Franco

      Version of Record online: 6 DEC 2006 | DOI: 10.1002/ajmg.a.31557

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      Anophthalmia-plus syndrome: A clinical report and review of the literature (pages 64–68)

      Imad R. Makhoul, Michalle Soudack, Orna Kochavi, Joseph N. Guilburd, Shimon Maimon and Ruth Gershoni-Baruch

      Version of Record online: 6 DEC 2006 | DOI: 10.1002/ajmg.a.31566

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      A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17 (pages 76–81)

      Marketa Havlovicova, Drahuse Novotna, Eduard Kocarek, Kamila Novotna, Sarka Bendova, Borivoj Petrak, Michal Hrdlicka and Zdenek Sedlacek

      Version of Record online: 12 DEC 2006 | DOI: 10.1002/ajmg.a.31569

  3. Research Letters

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Correspondence
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      Non-chromosome 11-p syndromes in Wilms tumor patients: Clinical and cytogenetic report of two Down syndrome cases and one Turner syndrome case (pages 85–88)

      Filippo Spreafico, Monica Terenziani, Elena Lualdi, Paola Scarfone, Paola Collini, Franca Fossati-Bellani, Eulalia Galea, Giovanna De Vecchi, Michele Sardella, Gabriella Sozzi, Paolo Radice and Daniela Perotti

      Version of Record online: 12 DEC 2006 | DOI: 10.1002/ajmg.a.31480

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      Studies with MMP9 gene promoter polymorphism and nonsyndromic cleft lip and palate (pages 89–91)

      Ariadne Letra, Rodrigo A. da Silva, Renato Menezes, Ana P. de Souza, Ana L.P.F. de Almeida, Mari C. Sogayar and Jose M. Granjeiro

      Version of Record online: 12 DEC 2006 | DOI: 10.1002/ajmg.a.31492

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      Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8 (pages 92–94)

      Raymonda Varon, Annika Müer, Klaus Wagner, Hannelore Zierler, Sigrun Sodia, Ludwig Rauter, Erwin Petek, Holger Tönnies, Haidemarie Neitzel, Karl Sperling and Peter M. Kroisel

      Version of Record online: 13 NOV 2006 | DOI: 10.1002/ajmg.a.31540

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      Multiple primary tumors associated with chromosome 9p deletion (pages 95–97)

      Noralane M. Lindor, Syed M. Jalal, Seema Kumar and Aida N. Lteif

      Version of Record online: 13 NOV 2006 | DOI: 10.1002/ajmg.a.31545

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      Angelman syndrome caused by an identical familial 1,487-kb deletion (pages 98–101)

      Kanako Sato, Mie Iwakoshi, Osamu Shimokawa, Haruya Sakai, Tohru Ohta, Shinji Saitoh, Noriko Miyake, Norio Niikawa, Naoki Harada, Hirotomo Saitsu, Takeshi Mizuguchi and Naomichi Matsumoto

      Version of Record online: 6 DEC 2006 | DOI: 10.1002/ajmg.a.31550

  4. Correspondence

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Correspondence
    1. You have free access to this content
    2. You have free access to this content

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