American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

1 December 2007

Volume 143A, Issue 23

Pages 2761–2850

  1. New Syndrome

    1. Top of page
    2. New Syndrome
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Research Reviews
    1. You have free access to this content
      A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia (pages 2761–2767)

      Anna Rajab, M. Chiara Manzini, Ganeshwaran H. Mochida, Christopher A. Walsh and M. Elizabeth Ross

      Article first published online: 1 NOV 2007 | DOI: 10.1002/ajmg.a.31955

  2. Research Articles

    1. Top of page
    2. New Syndrome
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Research Reviews
    1. Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2 (pages 2768–2774)

      Shagufta Khaliq, Aiysha Abid, Dominick R.A. White, Colin A. Johnson, Muhammad Ismail, Ayesha Khan, Qasim Ayub, Salma Sultana, Eamonn R. Maher and Syed Qasim Mehdi

      Article first published online: 1 NOV 2007 | DOI: 10.1002/ajmg.a.31739

    2. MECP2 deletions and genotype–phenotype correlation in Rett syndrome (pages 2775–2784)

      Elisa Scala, Ilaria Longo, Federica Ottimo, Caterina Speciale, Katia Sampieri, Eleni Katzaki, Rosangela Artuso, Maria Antonietta Mencarelli, Tatiana D'Ambrogio, Giuseppina Vonella, Michele Zappella, Giuseppe Hayek, Agatino Battaglia, Francesca Mari, Alessandra Renieri and Francesca Ariani

      Article first published online: 29 OCT 2007 | DOI: 10.1002/ajmg.a.32002

    3. Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes (pages 2785–2795)

      Steven B. Bleyl, Janice L.B. Byrne, Sarah T. South, David C. Dries, David A. Stevenson, Alan F. Rope, Angela M. Vianna-Morgante, Gary C. Schoenwolf, Jane D. Kivlin, Arthur Brothman and John C. Carey

      Article first published online: 9 NOV 2007 | DOI: 10.1002/ajmg.a.32036

    4. Beckwith–Wiedemann-like macroglossia and 18q23 haploinsufficiency (pages 2796–2803)

      Frédéric Lirussi, Laurence Jonard, Véronique Gaston, Damien Sanlaville, R. Frank Kooy, Birgitta Winnepenninckx, Eamonn R. Maher, David R. FitzPatrick, Christine Gicquel, Marie-France Portnoï, Rémy Couderc, Marie-Paule Vazquez and Michel Bahuau

      Article first published online: 9 NOV 2007 | DOI: 10.1002/ajmg.a.31768

  3. Clinical Reports

    1. Top of page
    2. New Syndrome
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Research Reviews
    1. 22q13 microduplication in two patients with common clinical manifestations: A recognizable syndrome? (pages 2804–2809)

      Nobuhiko Okamoto, Takeo Kubota, Yutaka Nakamura, Ryusuke Murakami, Toshiya Nishikubo, Ichiro Tanaka, Yukihiro Takahashi, Shin Hayashi, Issei Imoto, Johji Inazawa, Noboru Hosokai, Shinichi Kohsaka and Shigeo Uchino

      Article first published online: 1 NOV 2007 | DOI: 10.1002/ajmg.a.31771

    2. The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy (pages 2810–2814)

      Petra Muschke, Uwe Kölsch, Sibylle Jakubiczka, Ilse Wieland, Thomas Brune and Peter Wieacker

      Article first published online: 9 NOV 2007 | DOI: 10.1002/ajmg.a.32046

    3. A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and “patchy” expression in the mosaic father (pages 2815–2820)

      F. Forzano, M. Lituania, A. Viassolo, V. Superti-Furga, G. Wildhardt, B. Zabel and F. Faravelli

      Article first published online: 9 NOV 2007 | DOI: 10.1002/ajmg.a.32047

    4. DOOR syndrome: Clinical report, literature review and discussion of natural history (pages 2821–2831)

      Aaron W. James, Suzette G. Miranda, Kathy Culver, Bryan D. Hall and Mahin Golabi

      Article first published online: 9 NOV 2007 | DOI: 10.1002/ajmg.a.32054

  4. Research Letters

    1. Top of page
    2. New Syndrome
    3. Research Articles
    4. Clinical Reports
    5. Research Letters
    6. Research Reviews
    1. Familial posterior helical ear pits (pages 2832–2834)

      Andrea Guala, Roberta Guarino, Angela Sparago, Andrea Riccio and Piergiorgio Franceschini

      Article first published online: 1 NOV 2007 | DOI: 10.1002/ajmg.a.31935

    2. Two distinctive mechanisms leading to disruption of the SHOX transcription unit in a single family (pages 2838–2842)

      Kosuke Izumi, Masao Nakano, Keisuke Kosaki, Rika Kosaki, Noboru Hosogai, Hideo Matsumoto, Tomonobu Hasegawa, Takao Takahashi and Kenjiro Kosaki

      Article first published online: 9 NOV 2007 | DOI: 10.1002/ajmg.a.31870

  5. Research Reviews

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

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