American Journal of Medical Genetics

Cover image for American Journal of Medical Genetics

15 November 2002

Volume 113, Issue 1

Pages 1–117

Currently known as: American Journal of Medical Genetics Part A

  1. Invited Comment

    1. Top of page
    2. Invited Comment
    3. Research Articles
    4. Rapid Publication
    5. New Syndrome?
    6. Clinical Reports
    7. Clinical Report
    8. Research Letter
    9. Correspondence
    10. Erratum
  2. Research Articles

    1. Top of page
    2. Invited Comment
    3. Research Articles
    4. Rapid Publication
    5. New Syndrome?
    6. Clinical Reports
    7. Clinical Report
    8. Research Letter
    9. Correspondence
    10. Erratum
    1. Distinct craniofacial-skeletal-dermatological dysplasia in a patient with W290C mutation in FGFR2 (pages 4–8)

      Vorasuk Shotelersuk, Chupong Ittiwut, Sumarlee Srivuthana, Charan Mahatumarat, Sukalaya Lerdlum and Suthipong Wacharasindhu

      Version of Record online: 10 MAY 2002 | DOI: 10.1002/ajmg.10449

    2. Gastrointestinal complications of Russell-Silver syndrome: A pilot study (pages 15–19)

      Jeff Anderson, David Viskochil, Molly O'Gorman and Chad Gonzales

      Version of Record online: 17 JUL 2002 | DOI: 10.1002/ajmg.10667

    3. Allelic homogeneity due to a founder mutation in Japanese patients with lattice corneal dystrophy type IIIA (pages 20–22)

      Kaoru Tsujikawa, Motokazu Tsujikawa, Shuji Yamamoto, Takashi Fujikado and Yasuo Tano

      Version of Record online: 17 JUL 2002 | DOI: 10.1002/ajmg.10709

    4. A whole-genome linkage scan suggests several genomic regions potentially containing QTLs underlying the variation of stature (pages 29–39)

      Hong-Wen Deng, Fu-Hua Xu, Yao-Zhong Liu, Hui Shen, Hongyi Deng, Qing-Yang Huang, Yong-Jun Liu, Theresa Conway, Jin-Long Li, K.M. Davies and Robert R. Recker

      Version of Record online: 6 AUG 2002 | DOI: 10.1002/ajmg.10742

    5. Hunting for a hypoglycemia gene: Severe neonatal hypoglycemia in a consanguineous family (pages 40–46)

      Anders Molven, Unni Rishaug, Guri E. Matre, Pål R. Njølstad and Oddmund Søvik

      Version of Record online: 23 AUG 2002 | DOI: 10.1002/ajmg.10575

    6. Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families (pages 47–51)

      J.L. Ramírez-Castro, N. Pineda-Trujillo, A.V. Valencia, C.M. Muñetón, O. Botero, O. Trujillo, G. Vásquez, B.E. Mora, N. Durango, G. Bedoya and A. Ruiz-Linares

      Version of Record online: 15 AUG 2002 | DOI: 10.1002/ajmg.10741

    7. Fibular aplasia with ectrodactyly (pages 52–58)

      Jane A. Evans, Martin H. Reed and Cheryl R. Greenberg

      Version of Record online: 6 AUG 2002 | DOI: 10.1002/ajmg.10754

  3. Rapid Publication

    1. Top of page
    2. Invited Comment
    3. Research Articles
    4. Rapid Publication
    5. New Syndrome?
    6. Clinical Reports
    7. Clinical Report
    8. Research Letter
    9. Correspondence
    10. Erratum
  4. New Syndrome?

    1. Top of page
    2. Invited Comment
    3. Research Articles
    4. Rapid Publication
    5. New Syndrome?
    6. Clinical Reports
    7. Clinical Report
    8. Research Letter
    9. Correspondence
    10. Erratum
  5. Clinical Reports

    1. Top of page
    2. Invited Comment
    3. Research Articles
    4. Rapid Publication
    5. New Syndrome?
    6. Clinical Reports
    7. Clinical Report
    8. Research Letter
    9. Correspondence
    10. Erratum
  6. Clinical Report

    1. Top of page
    2. Invited Comment
    3. Research Articles
    4. Rapid Publication
    5. New Syndrome?
    6. Clinical Reports
    7. Clinical Report
    8. Research Letter
    9. Correspondence
    10. Erratum
    1. Pulmonary agenesis: Expansion of the VCFS phenotype (pages 89–92)

      Karen Conway, Ronald Gibson, Jonathan Perkins and Michael L. Cunningham

      Version of Record online: 6 AUG 2002 | DOI: 10.1002/ajmg.10673

    2. Autopsy case of microcephalic osteodysplastic primordial “dwarfism” type II (pages 93–96)

      Ryuji Fukuzawa, Seiji Sato, Michael J. Sullivan, Gen Nishimura, Tomonobu Hasegawa and Nobutake Matsuo

      Version of Record online: 6 AUG 2002 | DOI: 10.1002/ajmg.10716

    3. Prenatal diagnosis and confirmation of the acrofacial dysostosis syndrome type Rodriguez (pages 97–100)

      M.W. Wessels, N.S. den Hollander, T.E. Cohen-Overbeek, M.S. Lesnik Oberstein, R.M. Nash, J.W. Wladimiroff, M.F. Niermeijer and P.J. Willems

      Version of Record online: 10 OCT 2002 | DOI: 10.1002/ajmg.10729

    4. Meiotic origin of two ring chromosomes 18 in a girl with developmental delay (pages 101–104)

      A. Baumer, M.L. Giovannucci Uzielli, S. Guarducci, E. Lapi, B. Röthlisberger and A. Schinzel

      Version of Record online: 17 JUL 2002 | DOI: 10.1002/ajmg.10700

  7. Research Letter

    1. Top of page
    2. Invited Comment
    3. Research Articles
    4. Rapid Publication
    5. New Syndrome?
    6. Clinical Reports
    7. Clinical Report
    8. Research Letter
    9. Correspondence
    10. Erratum
    1. Implications of FISH investigations in MIDAS syndrome associated with a 46,XX,t(X;Y) karyotype (pages 108–110)

      Dieter Kotzot, Kathrin Hoffmann, Annegret Kujat, Heidrun Holland, Ursula G. Froster and Jürgen Mücke

      Version of Record online: 27 AUG 2002 | DOI: 10.1002/ajmg.10718

    2. Ectodermal dysplasia syndrome with eyebrow alopecia, ptosis, strabismus, nystagmus, joint laxity, cerebellar ataxia, and osteopenia (pages 111–113)

      R. Zannolli, G. Inchingolo, L. Serracca, C. Miracco, M.M. de Santi, A. Malandrini, M. Biagioli, R. Perotti, C. Baldi, D. Nuti, E. Polito and S. Gonnelli

      Version of Record online: 7 AUG 2002 | DOI: 10.1002/ajmg.10713

  8. Correspondence

    1. Top of page
    2. Invited Comment
    3. Research Articles
    4. Rapid Publication
    5. New Syndrome?
    6. Clinical Reports
    7. Clinical Report
    8. Research Letter
    9. Correspondence
    10. Erratum
    1. Reply to correspondence from Hall—“Detection of Y-specific sequences in patients with Turner syndrome” (page 115)

      Mirian Y. Nishi, Sorahia Domenice, Maria Aparecida Medeiros, Berenice B. Mendonca and Ana Elisa C. Billerbeck

      Version of Record online: 10 OCT 2002 | DOI: 10.1002/ajmg.10813

  9. Erratum

    1. Top of page
    2. Invited Comment
    3. Research Articles
    4. Rapid Publication
    5. New Syndrome?
    6. Clinical Reports
    7. Clinical Report
    8. Research Letter
    9. Correspondence
    10. Erratum
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