American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

1 March 2004

Volume 125A, Issue 2

Pages 113–220

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Rapid Publications
    4. Clinical Reports
    5. Book Review
    6. Correspondence
    7. Announcements
    1. Autosomal trisomy and maternal use of multivitamin supplements (pages 113–116)

      Lorenzo D. Botto, Joseph Mulinare, Quanhe Yang, Yecai Liu and J. David Erickson

      Article first published online: 30 JUL 2003 | DOI: 10.1002/ajmg.a.20436

    2. Joubert syndrome: A haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene (pages 117–124)

      Craig L. Bennett, Melissa A. Parisi, Melissa L. Eckert, Huy M. Huynh, Phillip F. Chance and Ian A. Glass

      Article first published online: 11 SEP 2003 | DOI: 10.1002/ajmg.a.20438

    3. Molar tooth sign of the midbrain–hindbrain junction: Occurrence in multiple distinct syndromes (pages 125–134)

      Joseph G. Gleeson, Lesley C. Keeler, Melissa A. Parisi, Sarah E. Marsh, Phillip F. Chance, Ian A. Glass, John M. Graham Jr, Bernard L. Maria, A. James Barkovich and William B. Dobyns

      Article first published online: 7 AUG 2003 | DOI: 10.1002/ajmg.a.20437

    4. Genetic analysis of candidate loci in non-syndromic cleft lip families from Antioquia-Colombia and Ohio (pages 135–144)

      Lina M. Moreno, Mauricio Arcos-Burgos, Mary L. Marazita, Katherine Krahn, Brion S. Maher, Margaret E. Cooper, Consuelo R. Valencia-Ramirez and Andrew C. Lidral

      Article first published online: 18 FEB 2004 | DOI: 10.1002/ajmg.a.20425

    5. Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment (pages 145–151)

      Beverly N. Hay, Julie E. Martin, Barbara Karp, Joie Davis, Dirk Darnell, Beth Solomon, Maria Turner, Steven M. Holland and Jennifer M. Puck

      Article first published online: 3 DEC 2003 | DOI: 10.1002/ajmg.a.20595

    6. Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia (pages 152–156)

      Nina Canki-Klain, Astrid Milic, Biserka Kovac, Anuska Trlaja, Damir Grgicevic, Niko Zurak, Michel Fardeau, France Leturcq, Jean-Claude Kaplan, J. Andoni Urtizberea, Luisa Politano, Giulio Piluso and Josue Feingold

      Article first published online: 14 JUL 2003 | DOI: 10.1002/ajmg.a.20408

    7. Analysis of neurofibromatosis 1 (NF1) lesions by body segment (pages 157–161)

      Chana Palmer, Jacek Szudek, Harry Joe, Vincent M. Riccardi and J.M. Friedman

      Article first published online: 24 JUN 2003 | DOI: 10.1002/ajmg.a.20354

    8. Patient follow-up is a major problem at genetics clinics (pages 162–166)

      Carmen Esmer, Nora Urraca, Alessandra Carnevale and Victoria Del Castillo

      Article first published online: 31 JUL 2003 | DOI: 10.1002/ajmg.a.20303

    9. Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS (pages 167–172)

      Megan P. Hitchins, Sarah Rickard, Fatima Dhalla, Bert B.A. de Vries, Robin Winter, Marcus E. Pembrey and Sue Malcolm

      Article first published online: 31 JUL 2003 | DOI: 10.1002/ajmg.a.20343

  2. Rapid Publications

    1. Top of page
    2. Research Articles
    3. Rapid Publications
    4. Clinical Reports
    5. Book Review
    6. Correspondence
    7. Announcements
    1. Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome (pages 173–176)

      Małgorzata J.M. Nowaczyk, Diana Martin-Garcia, Angel Aquino-Perna, Miguel Rodriguez-Vazquez, Donna McCaughey, Barry Eng, Lisa M. Nakamura and John S. Waye

      Article first published online: 26 NOV 2003 | DOI: 10.1002/ajmg.a.20676

  3. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Rapid Publications
    4. Clinical Reports
    5. Book Review
    6. Correspondence
    7. Announcements
    1. Characterization of breakpoints in the GABRG3 and TSPY genes in a family with a t(Y;15)(p11.2;q12) (pages 177–180)

      Leena Gole, John A. Crolla, Simon N. Thomas, Patricia A. Jacobs and Nicholas R. Dennis

      Article first published online: 21 AUG 2003 | DOI: 10.1002/ajmg.a.20482

    2. Human disorganization complex, as a polytopic blastogenesis defect: A new case (pages 181–185)

      Wilmer Noé Delgado Luengo, María Luisa Hernández Rodríguez, Ivonne Valbuena Pirela, Sandra González Ferrer, Pedro Estrada Corona, Inara Chacón Fonseca, Juana Delgado Luengo, Alisandra Morales-Machín, Lisbeth Borjas Fuentes, María Caridad Martínez Basalo and José Chacín

      Article first published online: 31 JUL 2003 | DOI: 10.1002/ajmg.a.20307

    3. Translocation (Y;22) resulting in the loss of SHOX and isolated short stature (pages 186–190)

      C. Borie, J. Léger, O. Dupuy, M. Hassan, N. Ledu, A. Lebbar, P. Czernichow and P. Eydoux

      Article first published online: 19 DEC 2003 | DOI: 10.1002/ajmg.a.20346

    4. Long-term follow-up of three individuals with Kabuki syndrome (pages 191–200)

      Stavit A. Shalev, Lorne A. Clarke, David Koehn, Sylvie Langlois, Elaine H. Zackai, Judith G. Hall and Donna M. Mcdonald McGinn

      Article first published online: 31 JUL 2003 | DOI: 10.1002/ajmg.a.20375

    5. Mitochondrial myopathy and sideroblastic anemia (pages 201–204)

      Kari A. Casas and Nathan Fischel-Ghodsian

      Article first published online: 30 JUN 2003 | DOI: 10.1002/ajmg.a.20368

    6. Probable new syndrome in a Mexican family with congenital palmar polyonychia and postaxial limb defects (pages 205–209)

      J. Román Corona-Rivera, Enrique Corona-Rivera, Rubén Fragoso-Herrera, Ismael Nuño-Arana and Verónica Loera-Castañeda

      Article first published online: 7 AUG 2003 | DOI: 10.1002/ajmg.a.20443

  4. Book Review

    1. Top of page
    2. Research Articles
    3. Rapid Publications
    4. Clinical Reports
    5. Book Review
    6. Correspondence
    7. Announcements
    1. Book review (page 210)

      J.M. Friedman

      Article first published online: 29 SEP 2003 | DOI: 10.1002/ajmg.a.20510

  5. Correspondence

    1. Top of page
    2. Research Articles
    3. Rapid Publications
    4. Clinical Reports
    5. Book Review
    6. Correspondence
    7. Announcements
    1. Sporadic case of bilateral fusion of metacarpal 4 and 5 (pages 214–215)

      P.H. Debeer, M. De Smedt and J.-P. Fryns

      Article first published online: 25 JUN 2003 | DOI: 10.1002/ajmg.a.20379

    2. Hallerman–Streiff syndrome: Patient with decreased GH and insulin-like growth factor-1 (pages 216–218)

      Carmelo Damiano Salpietro, Silvana Briuglia, Maria Valeria Merlino, Basilia Piraino, Mariella Valenzise and Bruno Dallapiccola

      Article first published online: 8 SEP 2003 | DOI: 10.1002/ajmg.a.20399

  6. Announcements

    1. Top of page
    2. Research Articles
    3. Rapid Publications
    4. Clinical Reports
    5. Book Review
    6. Correspondence
    7. Announcements
    1. You have free access to this content
      Clinical Cytogeneticist (page 219)

      Arthur R. Brothman

      Article first published online: 18 FEB 2004 | DOI: 10.1002/ajmg.a.30040

    2. You have free access to this content

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