American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

1 May 2007

Volume 143A, Issue 9

Pages 907–1019

  1. Rapid Publications

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Invited Comments
    5. Clinical Reports
    6. Research Letters
    7. Correspondence
    1. Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes (pages 907–915)

      Nicola Marziliano, Savina Mannarino, Luisa Nespoli, Marta Diegoli, Michele Pasotti, Clara Malattia, Maurizia Grasso, Andrea Pilotto, Emanuele Porcu, Arturo Raisaro, Claudia Raineri, Roberto Dore, Pietro Paolo Maggio, Agnese Brega and Eloisa Arbustini

      Version of Record online: 29 MAR 2007 | DOI: 10.1002/ajmg.a.31653

  2. Research Articles

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Invited Comments
    5. Clinical Reports
    6. Research Letters
    7. Correspondence
    1. Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy (pages 916–920)

      L. Rodriguez-Revenga, I. Madrigal, L.S. Alkhalidi, L. Armengol, E. González, C. Badenas, X. Estivill and M. Milà

      Version of Record online: 12 APR 2007 | DOI: 10.1002/ajmg.a.31521

    2. A novel missense mutation in the NDP gene in a child with Norrie disease and severe neurological involvement including infantile spasms (pages 921–924)

      Dorit Lev, Yuval Weigl, Mariana Hasan, Eva Gak, Michael Davidovich, Chana Vinkler, Esther Leshinsky-Silver, Tally Lerman-Sagie and Nathan Watemberg

      Version of Record online: 2 MAR 2007 | DOI: 10.1002/ajmg.a.31531

    3. Detection of single clone deletions using array CGH: Identification of submicroscopic deletions in the 22q11.2 deletion syndrome as a model system (pages 925–932)

      Taku A. Tokuyasu, Philip D. Cotter, Richard Segraves, Jeffrey Harris, Melissa E. Elder, Marcos Gonzales, Daniel Pinkel, Donna G. Albertson and Katherine A. Rauen

      Version of Record online: 29 MAR 2007 | DOI: 10.1002/ajmg.a.31662

    4. Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation (pages 939–944)

      Maha Zaki, Marwa Shehab, Alice Abd El-Aleem, Ghada Abdel-Salam, Hajira B. Koeller, Yesim Ilkin, M. Elizabeth Ross, William B. Dobyns and Joseph G. Gleeson

      Version of Record online: 12 APR 2007 | DOI: 10.1002/ajmg.a.31667

    5. Skewed X-chromosome inactivation is associated with primary but not secondary ovarian failure (pages 945–951)

      Karla L. Bretherick, Daniel L. Metzger, Jean-Pierre Chanoine, Constadina Panagiotopoulos, Spencer K. Watson, Wan L. Lam, Margo R. Fluker, Carolyn J. Brown and Wendy P. Robinson

      Version of Record online: 12 APR 2007 | DOI: 10.1002/ajmg.a.31679

    6. Hyperhomocysteinemia and MTHFR polymorphisms in association with orofacial clefts and congenital heart defects: A meta-analysis (pages 952–960)

      Anna Verkleij-Hagoort, Johannes Bliek, Fakhredin Sayed-Tabatabaei, Nicolette Ursem, Eric Steegers and Régine Steegers-Theunissen

      Version of Record online: 12 APR 2007 | DOI: 10.1002/ajmg.a.31684

    7. Race and ethnicity in genetic research (pages 961–970)

      Pamela Sankar, Mildred K. Cho and Joanna Mountain

      Version of Record online: 7 MAR 2007 | DOI: 10.1002/ajmg.a.31575

  3. Invited Comments

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Invited Comments
    5. Clinical Reports
    6. Research Letters
    7. Correspondence
  4. Clinical Reports

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Invited Comments
    5. Clinical Reports
    6. Research Letters
    7. Correspondence
    1. Martsolf syndrome in Japanese siblings (pages 973–978)

      Hiroaki Ehara, Yasushi Utsunomiya, Atsushi Ieshima, Yoshihiro Maegaki, Gen Nishimura, Kenzo Takeshita and Kousaku Ohno

      Version of Record online: 29 MAR 2007 | DOI: 10.1002/ajmg.a.31626

    2. Late-onset cobalamin-C disorder: A challenging diagnosis (pages 979–984)

      Tawfeg I. Ben-Omran, Hubert Wong, Susan Blaser and Annette Feigenbaum

      Version of Record online: 12 APR 2007 | DOI: 10.1002/ajmg.a.31671

    3. Cryptic duplication of 12q24.33 [RIGHTWARDS ARROW]qter in a child with Angelman syndrome—simultaneous occurrence of two unrelated cytogenetic events (pages 985–994)

      M. Sathanoori, J. Hu, V. Murthy, A. Byrnes, J. Vockley, R. Safier, J. Bedoyan, S.M. Jalal, H. Huber and U. Surti

      Version of Record online: 29 MAR 2007 | DOI: 10.1002/ajmg.a.31682

    4. The first 4p euchromatic variant in a healthy carrier having an unusual reproductive history (pages 995–998)

      L. Rodríguez, M. Zollino, E. Mansilla, M.L. Martínez-Fernández, P. Pérez, M. Murdolo and M.L. Martínez-Frías

      Version of Record online: 12 APR 2007 | DOI: 10.1002/ajmg.a.31681

    5. Smith–Magenis syndrome and moyamoya disease in a patient with del(17)(p11.2p13.1) (pages 999–1008)

      Santhosh Girirajan, Roberto Mendoza-Londono, Christopher N. Vlangos, Lucie Dupuis, Norma J. Nowak, David J. Bunyan, Eli Hatchwell and Sarah H. Elsea

      Version of Record online: 12 APR 2007 | DOI: 10.1002/ajmg.a.31689

  5. Research Letters

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Invited Comments
    5. Clinical Reports
    6. Research Letters
    7. Correspondence
    1. Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes (pages 1009–1011)

      Anna Sarkozy, Annalisa Schirinzi, Francesca Lepri, Irene Bottillo, Alessandro De Luca, Antonio Pizzuti, Marco Tartaglia, Maria Cristina Digilio and Bruno Dallapiccola

      Version of Record online: 15 MAR 2007 | DOI: 10.1002/ajmg.a.31666

    2. Holt–Oram syndrome with right lung agenesis caused by a de novo mutation in the TBX5 gene (pages 1012–1014)

      Yu-Ru Tseng, Yi-Ning Su, Frank Leigh Lu, Suh-Fang Jeng, Wu-Shiun Hsieh, Chien-Yi Chen, Hung-Chieh Chou and Steven Shinn-Forng Peng

      Version of Record online: 15 MAR 2007 | DOI: 10.1002/ajmg.a.31672

  6. Correspondence

    1. Top of page
    2. Rapid Publications
    3. Research Articles
    4. Invited Comments
    5. Clinical Reports
    6. Research Letters
    7. Correspondence

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