American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

15 September 2004

Volume 130A, Issue 1

Pages 1–109

  1. Introductory Comments

    1. Top of page
    2. Introductory Comments
    3. Research Reviews
    4. Rapid Publications
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Book Reviews
    9. Correspondence
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      The genetics of deafness (pages 1–2)

      Walter E. Nance

      Version of Record online: 24 AUG 2004 | DOI: 10.1002/ajmg.a.30055

  2. Research Reviews

    1. Top of page
    2. Introductory Comments
    3. Research Reviews
    4. Rapid Publications
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Book Reviews
    9. Correspondence
    1. Genetic heterogeneity in Usher syndrome (pages 13–16)

      Bronya J.B. Keats and Sevtap Savas

      Version of Record online: 22 APR 2004 | DOI: 10.1002/ajmg.a.30052

    2. Attitudes of deaf individuals towards genetic testing (pages 17–21)

      Patricia Rubal Taneja, Arti Pandya, Debra L. Foley, Lauren Vanner Nicely and Kathleen S. Arnos

      Version of Record online: 11 MAY 2004 | DOI: 10.1002/ajmg.a.30051

    3. Superficial siderosis: A potentially important cause of genetic as well as non-genetic deafness (pages 22–25)

      Kelley M. Dodson, Aristides Sismanis and Walter E. Nance

      Version of Record online: 11 MAY 2004 | DOI: 10.1002/ajmg.a.30050

  3. Rapid Publications

    1. Top of page
    2. Introductory Comments
    3. Research Reviews
    4. Rapid Publications
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Book Reviews
    9. Correspondence
    1. Candidate locus for Gilles de la Tourette syndrome/obsessive compulsive disorder/chronic tic disorder at 18q22 (pages 37–39)

      Adam Cuker, Matthew W. State, Robert A. King, Nicole Davis and Dr. David C. Ward

      Version of Record online: 4 AUG 2004 | DOI: 10.1002/ajmg.a.30066

  4. Research Articles

    1. Top of page
    2. Introductory Comments
    3. Research Reviews
    4. Rapid Publications
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Book Reviews
    9. Correspondence
    1. Significant association between nonsyndromic oral clefts and arylhydrocarbon receptor nuclear translocator (ARNT) (pages 40–44)

      Shuji Kayano, Yoichi Suzuki, Kiyoshi Kanno, Yoko Aoki, Shigeo Kure, Atsushi Yamada and Yoichi Matsubara

      Version of Record online: 27 JUL 2004 | DOI: 10.1002/ajmg.a.30023

    2. Macrocephaly-cutis marmorata telangiectatica congenita: Report of six new patients and a review (pages 45–51)

      Pablo Lapunzina, Alba Gairí, Alicia Delicado, M. Angeles Mori, M. Luisa de Torres, Anton Goma, Marcelo Navia and Isidora López Pajares

      Version of Record online: 3 AUG 2004 | DOI: 10.1002/ajmg.a.30235

    3. Pregnancy outcome following rubella vaccination: A prospective controlled study (pages 52–54)

      Benjamin Bar-Oz, Zina Levichek, Myla E. Moretti, Corinna Mah, Stella Andreou and Gideon Koren

      Version of Record online: 3 AUG 2004 | DOI: 10.1002/ajmg.a.30225

    4. Majewski osteodysplastic primordial dwarfism type II (MOPD II): Natural history and clinical findings (pages 55–72)

      Judith G. Hall, Christina Flora, Charles I. Scott Jr, Richard M. Pauli and Kimi I. Tanaka

      Version of Record online: 3 AUG 2004 | DOI: 10.1002/ajmg.a.30203

    5. Thioredoxin interacting protein in Dutch families with familial combined hyperlipidemia (pages 73–75)

      Gerly M. van der Vleuten, Anneke Hijmans, Leo A.J. Kluijtmans, Henk J. Blom, Anton F.H. Stalenhoef and Jacqueline de Graaf

      Version of Record online: 3 AUG 2004 | DOI: 10.1002/ajmg.a.30036

  5. Clinical Reports

    1. Top of page
    2. Introductory Comments
    3. Research Reviews
    4. Rapid Publications
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Book Reviews
    9. Correspondence
    1. Congenital idiopathic intestinal pseudo-obstruction and hydrocephalus with stenosis of the aqueduct of sylvius (pages 84–87)

      L. Bott, O. Boute, K. Mention, M. Vinchon, F. Boman and F. Gottrand

      Version of Record online: 11 JUN 2004 | DOI: 10.1002/ajmg.a.30793

    2. Paternal uniparental disomy of chromosome 14: Confirmation of a clinically-recognizable phenotype (pages 88–91)

      David A. Stevenson, Arthur R. Brothman, Zhong Chen, Pinar Bayrak-Toydemir and Nicola Longo

      Version of Record online: 27 JUL 2004 | DOI: 10.1002/ajmg.a.30200

    3. Oculo-palato-cerebral syndrome: A third case supporting autosomal recessive inheritance (pages 92–95)

      Yasemin Alanay, Koray Boduroǧlu, Barış Sönmez and Mehmet Orhan

      Version of Record online: 24 AUG 2004 | DOI: 10.1002/ajmg.a.30114

  6. Research Letters

    1. Top of page
    2. Introductory Comments
    3. Research Reviews
    4. Rapid Publications
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Book Reviews
    9. Correspondence
    1. Mutations in the EVC1 gene are not a common finding in the Ellis-van Creveld and short rib-polydactyly type III syndromes (pages 96–97)

      Yuji Takamine, Pavel Krejci, Pertchoui B. Mekikian and Dr. William R. Wilcox

      Version of Record online: 24 AUG 2004 | DOI: 10.1002/ajmg.a.20579

    2. Search for loss of heterozygosity and mutation analysis of KRIT1 gene in CCM patients (pages 98–101)

      Valeria Marini, Loretta Ferrera, Francesca Pigatto, Paola Origone, Cecilia Garrè, Alessandra Dorcaratto, Giuseppe Viale, Francesco Alberti and Cristina Mareni

      Version of Record online: 11 JUN 2004 | DOI: 10.1002/ajmg.a.30122

    3. Brachydactyly and short stature in a kindred with early-onset parkinsonism (pages 102–104)

      Marieke C.J. Dekker, R.J.H. Galjaard, P.J.L.M. Snijders, P. Heutink, B.A. Oostra and C.M. van Duijn

      Version of Record online: 4 AUG 2004 | DOI: 10.1002/ajmg.a.30021

  7. Book Reviews

    1. Top of page
    2. Introductory Comments
    3. Research Reviews
    4. Rapid Publications
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Book Reviews
    9. Correspondence
    1. Book Review (page 105)

      John M. Opitz

      Version of Record online: 20 JUL 2004 | DOI: 10.1002/ajmg.a.30214

  8. Correspondence

    1. Top of page
    2. Introductory Comments
    3. Research Reviews
    4. Rapid Publications
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Book Reviews
    9. Correspondence
    1. A newly recognized chondrodysplasia with multiple dislocations (pages 107–109)

      André Mégarbané and Ismat Ghanem

      Version of Record online: 10 JUN 2004 | DOI: 10.1002/ajmg.a.30179

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