American Journal of Medical Genetics Part A

Cover image for Vol. 146A Issue 21

1 November 2008

Volume 146A, Issue 21

Pages 2715–2844

  1. Invited Comments

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
  2. Research Articles

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    1. All in the family: Disclosure of “unwanted” information to an adolescent to benefit a relative (pages 2719–2724)

      Colleen C. Denny, Benjamin S. Wilfond, June A. Peters, Neelam Giri and Blanche P. Alter

      Version of Record online: 1 OCT 2008 | DOI: 10.1002/ajmg.a.32362

    2. Genotype–phenotype relationship for localization and age distribution of telangiectases in hereditary hemorrhagic telangiectasia (pages 2733–2739)

      Tom G.W. Letteboer, Hans-Jurgen Mager, Repke J. Snijder, Dick Lindhout, Hans-Kristian Ploos van Amstel, Pieter Zanen and Kees J.J. Westermann

      Version of Record online: 1 OCT 2008 | DOI: 10.1002/ajmg.a.32243

    3. Type II autosomal recessive cutis laxa: Report of another patient and molecular studies concerning three candidate genes (pages 2740–2745)

      Daniel Zanetti Scherrer, Fabiana Alexandrino, Maria Letícia Cintra, Edi Lúcia Sartorato and Carlos Eduardo Steiner

      Version of Record online: 25 SEP 2008 | DOI: 10.1002/ajmg.a.32345

    4. Molecular characterization of a patient with 3p deletion syndrome and a review of the literature (pages 2746–2752)

      Thomas V. Fernandez, I.J. García-González, Christopher E. Mason, G. Hernández-Zaragoza, V.C. Ledezma-Rodríguez, V.M. Anguiano-Alvarez, R. E'Vega, M. Gutiérrez-Angulo, M.L. Maya, H.E. García-Bejarano, M. González-Cruz, S. Barrios, R. Atorga, M.G. López-Cardona, J. Armendariz-Borunda, Matthew W. State and Nory O. Dávalos

      Version of Record online: 3 OCT 2008 | DOI: 10.1002/ajmg.a.32533

    5. Association between cerebral shape and social use of language in Williams syndrome (pages 2753–2761)

      Doron Gothelf, Yvonne M. Searcy, Judy Reilly, Philip T. Lai, Tope Lanre-Amos, Debra Mills, Julie R. Korenberg, Albert Galaburda, Ursula Bellugi and Allan L. Reiss

      Version of Record online: 15 OCT 2008 | DOI: 10.1002/ajmg.a.32507

    6. Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco (pages 2762–2769)

      Rahima Mostefai, Fanny Morice-Picard, Franck Boralevi, Michel Sautarel, Didier Lacombe, Marie José Stasia, John McGrath and Alain Taïeb

      Version of Record online: 16 OCT 2008 | DOI: 10.1002/ajmg.a.32524

    7. Supernumerary marker chromosomes management in prenatal diagnosis (pages 2770–2776)

      Nicolas Gruchy, Marine Lebrun, Michel Herlicoviez, Jacques Alliet, Dominique Gourdier, Marie-Laure Kottler, Hervé Mittre and Nathalie Leporrier

      Version of Record online: 16 OCT 2008 | DOI: 10.1002/ajmg.a.32532

    8. Clinical and molecular cytogenetic characterization of four patients with unbalanced translocation der(1)t(1;22)(p36;q13) (pages 2777–2784)

      Marzena Gajecka, Reem Saadeh, Katherine L. Mackay, Caron D. Glotzbach, Krystyna Spodar, David Chitayat and Lisa G. Shaffer

      Version of Record online: 27 OCT 2008 | DOI: 10.1002/ajmg.a.32427

  3. Clinical Reports

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    1. Kapur–Toriello syndrome: Further delineation (pages 2791–2793)

      Emiy Yokoyama, Angélica Martínez and Ariadna González-del Angel

      Version of Record online: 1 OCT 2008 | DOI: 10.1002/ajmg.a.32369

    2. Familial recurrence of SOX2 anophthalmia syndrome: Phenotypically normal mother with two affected daughters (pages 2794–2798)

      Adele Schneider, Tanya M. Bardakjian, Jie Zhou, Nkecha Hughes, Rosanne Keep, Darnelle Dorsainville, Femida Kherani, James Katowitz, Lisa A. Schimmenti, Marybeth Hummel, David R. FitzPatrick and Terri L. Young

      Version of Record online: 1 OCT 2008 | DOI: 10.1002/ajmg.a.32384

    3. Tetra-amelia and lung hypo/aplasia syndrome: New case report and review (pages 2799–2803)

      Sérgio B. Sousa, Raquel Pina, Lina Ramos, Naigel Pereira, Martin Krahn, Wiktor Borozdin, Jürgen Kohlhase, Marta Amorim, Katia Gonnet, Nicolas Lévy, Isabel M. Carreira, Ana Bela Couceiro and Jorge M. Saraiva

      Version of Record online: 3 OCT 2008 | DOI: 10.1002/ajmg.a.32489

    4. Robinow syndrome: Phenotypic variability in a family with a novel intragenic ROR2 mutation (pages 2804–2809)

      Nicola Brunetti-Pierri, Daniela del Gaudio, Hartmut Peters, Henri Justino, Claus-Eric Ott, Stefan Mundlos and Carlos A. Bacino

      Version of Record online: 1 OCT 2008 | DOI: 10.1002/ajmg.a.32530

    5. Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation (pages 2810–2815)

      V. Navarro, C. Scott, T.A. Briggs, S. Barete, C. Frances, P. Lebon, T. Maisonobe, G.I. Rice, C.H. Wouters and Y.J. Crow

      Version of Record online: 15 OCT 2008 | DOI: 10.1002/ajmg.a.32518

    6. A small and active ring x chromosome in a female with features of Kabuki syndrome (pages 2816–2821)

      L. Rodríguez, D. Diego-Alvarez, I. Lorda-Sanchez, F.L. Gallardo, M.L. Martínez-Fernández, M.E. Arroyo-Muñoz and M.L. Martínez-Frías

      Version of Record online: 16 OCT 2008 | DOI: 10.1002/ajmg.a.32521

    7. Phenotypic consequences of a novel SCO2 gene mutation (pages 2822–2827)

      Rob M. Verdijk, Ronald de Krijger, Kees Schoonderwoerd, Valeria Tiranti, Hubert Smeets, Lutgarde C.P. Govaerts and René de Coo

      Version of Record online: 15 OCT 2008 | DOI: 10.1002/ajmg.a.32523

  4. Research Letters

    1. Top of page
    2. Invited Comments
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    1. Crisponi syndrome in an Indian patient: A rare differential diagnosis for neonatal tetanus (pages 2831–2834)

      Niranjan Thomas, Sumita Danda, Manish Kumar, Atanu Kumar Jana, Giangiorgio Crisponi, Alessandra Meloni and Laura Crisponi

      Version of Record online: 3 OCT 2008 | DOI: 10.1002/ajmg.a.32487

    2. Triphalangeal thumbs with brachyectrodactyly: A sporadic case (pages 2835–2836)

      Alaina M. Brown, Mark Romness, Danielle A. Dong and Thaddeus E. Kelly

      Version of Record online: 15 OCT 2008 | DOI: 10.1002/ajmg.a.32464

    3. Mosaic ring chromosome 8: Clinical and array-CGH findings in partial trisomy 8 (pages 2837–2841)

      Isabel Filges, Benno Röthlisberger, Friedel Wenzel, Karl Heinimann, Andreas R. Huber and Peter Miny

      Version of Record online: 15 OCT 2008 | DOI: 10.1002/ajmg.a.32520

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