American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

15 September 2007

Volume 143A, Issue 18

Pages 2085–2219

  1. New Syndrome

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

    1. Top of page
    2. New Syndrome
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Research Reviews
    7. Book Reviews
    8. Correspondence
    1. Parenting children with Proteus syndrome: Experiences with, and adaptation to, courtesy stigma (pages 2089–2097)

      Joyce Turner, Barbara Biesecker, Jennifer Leib, Leslie Biesecker and Kathryn F. Peters

      Version of Record online: 13 AUG 2007 | DOI: 10.1002/ajmg.a.31904

    2. Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish–Mennonites (pages 2098–2105)

      Rachel Saunders-Pullman, Deborah Raymond, Geetha Senthil, Patricia Kramer, Erin Ohmann, Amanda Deligtisch, Vicki Shanker, Paul Greene, Rowena Tabamo, Neng Huang, Michele Tagliati, Patricia Kavanagh, Jeannie Soto-Valencia, Patricia de Carvalho Aguiar, Neil Risch, Laurie Ozelius and Susan Bressman

      Version of Record online: 13 AUG 2007 | DOI: 10.1002/ajmg.a.31887

    3. Growth hormone analysis and treatment in Ellis–van Creveld syndrome (pages 2113–2121)

      Florens G.A. Versteegh, Sannine A. Buma, Gertrude Costin, Wilfried C. de Jong and Raoul C.M. Hennekam

      Version of Record online: 13 AUG 2007 | DOI: 10.1002/ajmg.a.31891

    4. Prenatal ascertainment of OEIS complex/cloacal exstrophy—15 new cases and literature review (pages 2122–2128)

      Kim Keppler-Noreuil, Sue Gorton, Florence Foo, Jerome Yankowitz and Catherine Keegan

      Version of Record online: 13 AUG 2007 | DOI: 10.1002/ajmg.a.31897

    5. Dehydrosteroid measurements in maternal urine or serum for the prenatal diagnosis of Smith–Lemli–Opitz syndrome (SLOS) (pages 2129–2136)

      Cedric H.L. Shackleton, Josep Marcos, Glenn E. Palomaki, Wendy Y. Craig, Richard I. Kelley, Lisa E. Kratz and James E. Haddow

      Version of Record online: 13 AUG 2007 | DOI: 10.1002/ajmg.a.31901

    6. Distal 3p deletion syndrome: Detailed molecular cytogenetic and clinical characterization of three small distal deletions and review (pages 2143–2149)

      Helena Malmgren, Sigrid Sahlén, Katarina Wide, Mikael Lundvall and Elisabeth Blennow

      Version of Record online: 14 AUG 2007 | DOI: 10.1002/ajmg.a.31902

    7. Prevalence of encephalocele in Texas, 1999–2002 (pages 2150–2155)

      Shu Wen, Mary Ethen, Peter H. Langlois and Laura E. Mitchell

      Version of Record online: 13 AUG 2007 | DOI: 10.1002/ajmg.a.31907

  3. Clinical Reports

    1. Top of page
    2. New Syndrome
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Research Reviews
    7. Book Reviews
    8. Correspondence
    1. Severe fatal course of axial mesodermal dysplasia spectrum associated with complex cardiac defect in an infant of a mother with insulin dependent diabetes (pages 2156–2159)

      Ener Cagri Dinleyici, Neslihan Tekin, Meltem Dinleyici, Zubeyir Kilic, Baki Adapinar and M. Arif Aksit

      Version of Record online: 3 AUG 2007 | DOI: 10.1002/ajmg.a.31895

    2. A microduplication of CBP in a patient with mental retardation and a congenital heart defect (pages 2160–2164)

      Bernard Thienpont, Jeroen Breckpot, Maureen Holvoet, Joris R. Vermeesch and Koen Devriendt

      Version of Record online: 13 AUG 2007 | DOI: 10.1002/ajmg.a.31893

    3. Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14 (pages 2165–2171)

      Joerg Mattes, Bruce Whitehead, Thomas Liehr, Ian Wilkinson, John Bear, Kerry Fagan, Paul Craven, Bruce Bennetts and Matthew Edwards

      Version of Record online: 13 AUG 2007 | DOI: 10.1002/ajmg.a.31896

    4. Zellweger syndrome resulting from maternal isodisomy of chromosome 1 (pages 2172–2177)

      Claire L.S. Turner, David J. Bunyan, N. Simon Thomas, Deborah J.G. Mackay, Huw P. Jones, Hans R. Waterham, Ronald J.A. Wanders and I. Karen Temple

      Version of Record online: 13 AUG 2007 | DOI: 10.1002/ajmg.a.31912

    5. A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene (pages 2178–2184)

      Fady M. Mikhail, Maria Descartes, Arkadiusz Piotrowski, Robin Andersson, Teresita Diaz de Ståhl, Jan Komorowski, Carl E.G. Bruder, Jan P. Dumanski and Andrew J. Carroll

      Version of Record online: 3 AUG 2007 | DOI: 10.1002/ajmg.a.31882

  4. Research Letters

    1. Top of page
    2. New Syndrome
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Research Reviews
    7. Book Reviews
    8. Correspondence
    1. Exclusion of genes from the EYA-DACH-SIX-PAX pathway as candidates for Branchio–Oculo–Facial syndrome (BOFS) (pages 2185–2188)

      René Kaiser, Elena Guillén Posteguillo, Dietmar Müller and Walter Just

      Version of Record online: 3 AUG 2007 | DOI: 10.1002/ajmg.a.31875

    2. 18p trisomy: A case of direct 18p duplication characterized by molecular cytogenetic analysis (pages 2192–2195)

      H. Marical, M.J. Le Bris, N. Douet-Guilbert, P. Parent, J.P. Descourt, F. Morel and M. De Braekeleer

      Version of Record online: 3 AUG 2007 | DOI: 10.1002/ajmg.a.31881

    3. Late-onset Charcot-Marie-Tooth type 2 disease with hearing impairment associated with a novel Pro105Thr mutation in the MPZ gene (pages 2196–2199)

      Dagmara Kabzińska, Teresa Korwin-Piotrowska, Hanna Drechsler, Hanna Drac, Irena Hausmanowa-Petrusewicz and Andrzej Kochański

      Version of Record online: 30 JUL 2007 | DOI: 10.1002/ajmg.a.31908

    4. Prenatal diagnosis of a small chromosome 2-derived supernumerary marker, and review of the reported cases (pages 2200–2203)

      Daniela Giardino, Emanuele Valtorta, Gabriella De Canal, Cecilia Corti, Chiara Valtorta, Palma Finelli, Concetta Vardè, Maria Iandolo, Cristiana Marchese and Lidia Larizza

      Version of Record online: 13 AUG 2007 | DOI: 10.1002/ajmg.a.31883

  5. Research Reviews

    1. Top of page
    2. New Syndrome
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Research Reviews
    7. Book Reviews
    8. Correspondence
    1. Prenatal detection and outcome of congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: Two patients and review of the literature (pages 2204–2212)

      M. Klaassens, R.J.H. Galjaard, D.A. Scott, H.T. Brüggenwirth, D. van Opstal, M.V. Fox, R.R. Higgins, T.E. Cohen-Overbeek, E.M. Schoonderwaldt, B. Lee, D. Tibboel and A. de Klein

      Version of Record online: 13 AUG 2007 | DOI: 10.1002/ajmg.a.31892

  6. Book Reviews

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

    1. Top of page
    2. New Syndrome
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Research Reviews
    7. Book Reviews
    8. Correspondence
    1. Ehlers–Danlos syndrome due to tenascin-X deficiency: Muscle weakness and contractures support overlap with collagen VI myopathies (pages 2215–2219)

      N.C. Voermans, G.J. Jenniskens, B.C. Hamel, J. Schalkwijk, P. Guicheney and B.G. van Engelen

      Version of Record online: 13 AUG 2007 | DOI: 10.1002/ajmg.a.31899

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