American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

15 January 2004

Volume 124A, Issue 2

Pages 113–223

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Clinical Report
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
    1. Immunohistochemical FMRP studies in a full mutated female fetus (pages 129–132)

      M. Rifé, A. Nadal, M. Milà and R. Willemsen

      Version of Record online: 12 JUN 2003 | DOI: 10.1002/ajmg.a.20342

    2. Results of a genome-wide linkage scan for stuttering (pages 133–135)

      Yin Yao Shugart, Jennifer Mundorff, James Kilshaw, Kimberly Doheny, Betty Doan, Jacqueline Wanyee, Eric D. Green and Dennis Drayna

      Version of Record online: 12 JUN 2003 | DOI: 10.1002/ajmg.a.20347

    3. The 10q24-linked split hand/split foot syndrome (SHFM3): Narrowing of the critical region and confirmation of the clinical phenotype (pages 136–141)

      Tony Roscioli, Peter J. Taylor, Andrew Bohlken, Jennifer A. Donald, John Masel, Ian A. Glass and Michael F. Buckley

      Version of Record online: 16 JUN 2003 | DOI: 10.1002/ajmg.a.20348

    4. Canavan disease: Carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay (pages 142–147)

      Annette Feigenbaum, Robert Moore, Joe Clarke, Stacy Hewson, David Chitayat, Peter N. Ray and Tracy L. Stockley

      Version of Record online: 9 JUN 2003 | DOI: 10.1002/ajmg.a.20334

    5. Longterm follow-up in chondrodysplasia punctata, tibia–metacarpal type, demonstrating natural history (pages 148–157)

      Ravi Savarirayan, Robert J. Boyle, John Masel, John G. Rogers and Leslie J. Sheffield

      Version of Record online: 24 JUN 2003 | DOI: 10.1002/ajmg.a.20383

    6. Unexpected death and critical illness in Prader–Willi syndrome: Report of ten individuals (pages 158–164)

      David A. Stevenson, Theresa M. Anaya, Jill Clayton-Smith, Bryan D. Hall, Margot I. Van Allen, Roberto T. Zori, Elaine H. Zackai, Gary Frank and Carol L. Clericuzio

      Version of Record online: 16 JUN 2003 | DOI: 10.1002/ajmg.a.20370

    7. Search for somatic 22q11.2 deletions in patients with conotruncal heart defects (pages 165–169)

      Anita Rauch, Michael Hofbeck, Robert Cesnjevar, Andreas Koch, Ralf Rauch, Gernot Buheitel, Helmut Singer and Michael Weyand

      Version of Record online: 12 JUN 2003 | DOI: 10.1002/ajmg.a.20323

  2. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Clinical Report
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
    1. Partial duplication 2p as the sole abnormality in two cases with anencephaly (pages 170–172)

      Maya Thangavelu, Gary Frolich and David Rogers

      Version of Record online: 12 JUN 2003 | DOI: 10.1002/ajmg.a.20322

  3. Clinical Report

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Clinical Report
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
    1. A girl with duplication 17p10-p12 associated with a dicentric chromosome (pages 173–178)

      Christine J. Shaw, Pawel Stankiewicz, John Christodoulou, Ellie Smith, Kristi Jones and James R. Lupski

      Version of Record online: 16 JUN 2003 | DOI: 10.1002/ajmg.a.20355

    2. Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin–Goltz syndrome and features of Nail-Patella syndrome (pages 179–191)

      Alina T. Midro, Barbara Panasiuk, Zeynep Tümer, Paweł Stankiewicz, Asli Silahtaroglu, James R. Lupski, Zuzana Zemanova, Beata Stasiewicz-Jarocka, Ewa Hubert, Eugeniusz Tarasów, Waldemar Famulski, Barbara Zadrożna-Tołwińska, Ewa Wasilewska, Marie Kirchhoff, Vera Kalscheuer, Kyra Michalova and Niels Tommerup

      Version of Record online: 13 JUN 2003 | DOI: 10.1002/ajmg.a.20367

  4. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Clinical Report
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
    1. Facial hemangioma and malformation of the cortical development: A broadening of the PHACE spectrum or a new entity? (pages 192–195)

      S. Grosso, L. de Cosmo, E. Bonifazi, P. Galluzzi, M.A. Farnetani, P. Loffredo, C. Anichini, R. Berardi, G. Morgese and Paolo Balestri

      Version of Record online: 24 JUN 2003 | DOI: 10.1002/ajmg.a.20316

    2. A case of Costello with parathyroid adenoma and hyperprolactinemia (pages 196–199)

      Mehtap Cakir, Cumhur Arici, Sukran Tacoy and Umit Karayalcin

      Version of Record online: 16 JUN 2003 | DOI: 10.1002/ajmg.a.20361

    3. New syndrome: Focal dermal hypoplasia, morning glory anomaly, and polymicrogyria (pages 202–208)

      Philip F. Giampietro, Deepti Babu, Monica A. Koehn, Daniel M. Jacobson, Karla A. Mueller-Schrader, Cara Moretti, Stella F. Patten, Lisa G. Shaffer, Robert J. Gorlin and William B. Dobyns

      Version of Record online: 24 JUN 2003 | DOI: 10.1002/ajmg.a.20377

    4. Hepatic fibrosis in Kabuki syndrome (pages 209–212)

      Valerio Nobili, Matilde Marcellini, Rita Devito, Rossella Capolino, Laura Viola and M. Cristina Digilio

      Version of Record online: 25 JUN 2003 | DOI: 10.1002/ajmg.a.20387

  5. Research Letters

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Clinical Report
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
    1. Fragile X and mosaic 45,X/46,XY mixed gonadal dysgenesis in a girl with ambiguous genitalia (pages 213–215)

      I. Marshall, B.P. Betensky, Amanda Goseco, D. Flieder and M.V. Vogiatzi

      Version of Record online: 12 JUN 2003 | DOI: 10.1002/ajmg.a.20350

  6. Book Reviews

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Clinical Report
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
  7. Correspondence

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Clinical Report
    5. Clinical Reports
    6. Research Letters
    7. Book Reviews
    8. Correspondence
    1. Reply to correspondence from Sokol (pages 222–223)

      Binita M. Kamath, Kathleen M. Loomes, David A. Piccoli, Karan E.M. Emerick, Rebecca J. Oakey, Nancy B. Spinner and Ian D. Krantz

      Version of Record online: 9 JUN 2003 | DOI: 10.1002/ajmg.a.20336

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