Search Results

There are 51485 results for: content related to: Spectrum of the acrocallosal syndrome

  1. Vasculogenesis, angiogenesis, hemangiomas, and vascular malformations

    American Journal of Medical Genetics

    Volume 108, Issue 4, 1 April 2002, Pages: 265–274, M. Michael Cohen Jr.

    Article first published online : 28 FEB 2002, DOI: 10.1002/ajmg.10260

  2. Hereditary intraosseous vascular malformation of the craniofacial region: An apparently novel disorder

    American Journal of Medical Genetics

    Volume 109, Issue 1, 15 April 2002, Pages: 22–35, Ibrahim Vargel, Barbaros E. Cil, Nuray Er, Sevket Ruacan, A. Nurten Akarsu and Yucel Erk

    Article first published online : 14 MAR 2002, DOI: 10.1002/ajmg.10282

  3. Short bi-iliac distance in prenatal Ullrich-Turner syndrome

    American Journal of Medical Genetics

    Volume 108, Issue 4, 1 April 2002, Pages: 290–294, Ulla B. Hartling, Birgit Fischer Hansen, Jean W. Keeling, Lene T. Skovgaard and Inger Kjær

    Article first published online : 13 FEB 2002, DOI: 10.1002/ajmg.10244

  4. Smith-Lemli-Opitz syndrome: New mutation with a mild phenotype

    American Journal of Medical Genetics

    Volume 108, Issue 1, 15 February 2002, Pages: 64–68, Chitra Prasad, Sandra Marles, Asuri N. Prasad, Sarah Nikkel, Sally Longstaffe, Deborah Peabody, Barry Eng, Sarah Wright, John S. Waye and Małgorzata J.M. Nowaczyk

    Article first published online : 4 JAN 2002, DOI: 10.1002/ajmg.10211

  5. You have free access to this content
    Asymmetry: Molecular, biologic, embryopathic, and clinical perspectives

    American Journal of Medical Genetics

    Volume 101, Issue 4, 15 July 2001, Pages: 292–314, Dr. M. Michael Cohen Jr.

    Article first published online : 8 JUN 2001, DOI: 10.1002/ajmg.1217

  6. Anticipation in a unique family with Charcot-Marie-Tooth syndrome and deafness: Delineation of the clinical features and review of the literature

    American Journal of Medical Genetics

    Volume 108, Issue 4, 1 April 2002, Pages: 295–303, M.J. Kovach, K.C.M. Campbell, K. Herman, B. Waggoner, D. Gelber, L.F. Hughes and V.E. Kimonis

    Article first published online : 7 MAR 2002, DOI: 10.1002/ajmg.10223

  7. Unique case of mosaicism involving two morphologically similar marker chromosomes of different centric origin in a patient with developmental delay

    American Journal of Medical Genetics

    Volume 108, Issue 3, 15 March 2002, Pages: 198–204, Brynn Levy, Syed M. Jalal, Teresa M. Dunn, Peter E. Warburton, Vijay S. Tonk, Kurt Hirschhorn, Lillian H. Lockhart, T. Hughes and Gopalrao V.N. Velagaleti

    Article first published online : 6 FEB 2002, DOI: 10.1002/ajmg.10263

  8. Comprehensive resource: Skeletal gene database

    American Journal of Medical Genetics

    Volume 106, Issue 4, Winter 2001, Pages: 275–281, Libin Jia, Nicola C. Ho, Susan S. Park, John Powell and Clair A. Francomano

    Article first published online : 25 JAN 2002, DOI: 10.1002/ajmg.10227

  9. You have free access to this content
    Chimeric creatures in Greek mythology and reflections in science

    American Journal of Medical Genetics

    Volume 100, Issue 1, 15 April 2001, Pages: 66–80, Euterpe Bazopoulou-Kyrkanidou

    Article first published online : 18 APR 2001, DOI: 10.1002/1096-8628(20010415)100:1<66::AID-AJMG1165>3.0.CO;2-U

  10. Calculation of recurrence risks for heterogeneous genetic disorders

    American Journal of Medical Genetics

    Volume 95, Issue 1, 6 November 2000, Pages: 36–42, Maria Cristina C. Braga, Paulo A. Otto and Oswaldo Frota-Pessoa

    Article first published online : 7 NOV 2000, DOI: 10.1002/1096-8628(20001106)95:1<36::AID-AJMG8>3.0.CO;2-8

  11. Molecular evidence of presenilin 1 mutation in familial early onset dementia

    American Journal of Medical Genetics

    Volume 114, Issue 3, 8 April 2002, Pages: 292–298, Miho Matsubara-Tsutsui, Minoru Yasuda, Hidehisa Yamagata, Takuo Nomura, Keiko Taguchi, Katsuhiko Kohara, Koho Miyoshi and Tetsuro Miki

    Article first published online : 18 JAN 2002, DOI: 10.1002/ajmg.10250

  12. Evaluation of linkage disequilibrium between chromosome 22q11 single nucleotide polymorphisms in a large outbred population

    American Journal of Medical Genetics

    Volume 114, Issue 2, 8 March 2002, Pages: 205–213, Sarah H. Shaw, Don Hutchison, Robert Saiz, Ken Abel, Lynn E. Delisi, Nicholas J. Schork and Robin Sherrington

    Article first published online : 4 JAN 2002, DOI: 10.1002/ajmg.10151

  13. Van der Woude syndrome with sensorineural hearing loss, large craniofacial sinuses, dental pulp stones, and minor limb anomalies: Report of a four-generation Thai family

    American Journal of Medical Genetics

    Volume 108, Issue 4, 1 April 2002, Pages: 275–280, Piranit N. Kantaputra, Yupa Sumitsawan, Brian C. Schutte and Chintana Tochareontanaphol

    Article first published online : 12 FEB 2002, DOI: 10.1002/ajmg.10276

  14. Familial digital arthropathy-brachydactyly

    American Journal of Medical Genetics

    Volume 108, Issue 3, 15 March 2002, Pages: 235–240, David J. Amor, Coral Tudball, R.J. McKinlay Gardner, Shireen R. Lamandé, John F. Bateman and Ravi Savarirayan

    Article first published online : 4 FEB 2002, DOI: 10.1002/ajmg.10269

  15. Clinical variability in mucolipidosis III (pseudo-Hurler polydystrophy)

    American Journal of Medical Genetics

    Volume 108, Issue 3, 15 March 2002, Pages: 214–218, Anna Tylki-Szymańska, Barbara Czartoryska, Johanna E.M. Groener and Agnieszka Ługowska

    Article first published online : 18 JAN 2002, DOI: 10.1002/ajmg.10224

  16. Vascular birthmarks of infancy: Resolving nosologic confusion

    American Journal of Medical Genetics

    Volume 108, Issue 4, 1 April 2002, Pages: 257–264, Jennifer L. Hand and Ilona J. Frieden

    Article first published online : 28 FEB 2002, DOI: 10.1002/ajmg.10161

  17. Quantitative trait locus for reading disability on chromosome 6p is pleiotropic for attention-deficit/hyperactivity disorder

    American Journal of Medical Genetics

    Volume 114, Issue 3, 8 April 2002, Pages: 260–268, Erik G. Willcutt, Bruce F. Pennington, Shelley D. Smith, Lon R. Cardon, Javier Gayán, Valerie S. Knopik, Richard K. Olson and John C. DeFries

    Article first published online : 7 FEB 2002, DOI: 10.1002/ajmg.10205

  18. Niemann-Pick disease type B: An unusual clinical presentation with multiple vertebral fractures

    American Journal of Medical Genetics

    Volume 109, Issue 1, 15 April 2002, Pages: 42–51, P. Volders, J. Van Hove, R.J.U. Lories, Ph. Vandekerckhove, G. Matthijs, R. De Vos, M.T. Vanier, M.F. Vincent, R. Westhovens and F.P. Luyten

    Article first published online : 22 MAR 2002, DOI: 10.1002/ajmg.10278

  19. PAGOD syndrome: Eighth case and comparison to animal models of congenital vitamin A deficiency

    American Journal of Medical Genetics

    Volume 108, Issue 3, 15 March 2002, Pages: 229–234, Joanne F. Macayran, Robin W. Doroshow, Jeffrey Phillips, Robert M. Sinow, Benjamin A. Furst, Lynne M. Smith and Henry J. Lin

    Article first published online : 17 JAN 2002, DOI: 10.1002/ajmg.10262

  20. Hydrocephalus and intestinal aganglionosis: Is L1CAM a modifier gene in Hirschsprung disease?

    American Journal of Medical Genetics

    Volume 108, Issue 1, 15 February 2002, Pages: 51–56, Melissa A. Parisi, Raj P. Kapur, Ian Neilson, Robert M.W. Hofstra, Lynda W. Holloway, Ron C. Michaelis and Kathleen A. Leppig

    Article first published online : 16 JAN 2002, DOI: 10.1002/ajmg.10185