American Journal of Medical Genetics Part A

Cover image for Vol. 149A Issue 2

February 2009

Volume 149A, Issue 2

Pages 129–296

  1. New Syndrome

    1. Top of page
    2. New Syndrome
    3. Invited Comments
    4. Research Articles
    5. Research Reviews
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    9. Errata
    1. You have free access to this content
      Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2 (pages 129–137)

      Anna Rajab, Kimberly A. Aldinger, Hisham Ali El-Shirbini, William B. Dobyns and M. Elizabeth Ross

      Version of Record online: 22 JAN 2009 | DOI: 10.1002/ajmg.a.32630

  2. Invited Comments

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

    1. Top of page
    2. New Syndrome
    3. Invited Comments
    4. Research Articles
    5. Research Reviews
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    9. Errata
    1. Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade (pages 140–146)

      Laura Cesarini, Paolo Alfieri, Francesca Pantaleoni, Isabella Vasta, Marta Cerutti, Valentina Petrangeli, Paolo Mariotti, Chiara Leoni, Daniela Ricci, Stefano Vicari, Angelo Selicorni, Marco Tartaglia, Eugenio Mercuri and Giuseppe Zampino

      Version of Record online: 9 JAN 2009 | DOI: 10.1002/ajmg.a.32488

    2. 15q overgrowth syndrome: A newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q (pages 147–154)

      Katrina Tatton-Brown, Daniela T. Pilz, Karen Helene Örstavik, Michael Patton, John C.K. Barber, Morag N. Collinson, Vivienne K. Maloney, Shuwen Huang, John A. Crolla, Karen Marks, Eli Ormerod, Peter Thompson, Zafar Nawaz, Christa Lese-Martin, Susan Tomkins, Paula Waits, Nazneen Rahman and Meriel McEntagart

      Version of Record online: 9 JAN 2009 | DOI: 10.1002/ajmg.a.32534

    3. Genetic polymorphisms in the thioredoxin 2 (TXN2) gene and risk for spina bifida (pages 155–160)

      Shu Wen, Wei Lu, Huiping Zhu, Wei Yang, Gary M. Shaw, Edward J. Lammer, Ana Islam and Richard H. Finnell

      Version of Record online: 22 JAN 2009 | DOI: 10.1002/ajmg.a.32589

    4. Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype–phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy (pages 161–170)

      C.L.S. Turner, H. Emery, A.L. Collins, R.J. Howarth, C.M. Yearwood, E. Cross, P.J. Duncan, D.J. Bunyan, J.F. Harvey and N.C. Foulds

      Version of Record online: 22 JAN 2009 | DOI: 10.1002/ajmg.a.32593

    5. Audiological and vestibular findings in the Kabuki syndrome (pages 171–176)

      S. Barozzi, F. Di Berardino, F. Atzeri, E. Filipponi, M. Cerutti, A. Selicorni and A. Cesarani

      Version of Record online: 22 JAN 2009 | DOI: 10.1002/ajmg.a.32610

    6. Cervical vertebrae, cranial base, and mandibular retrognathia in human triploid fetuses (pages 177–187)

      Liselotte Sonnesen, Dorrit Nolting, Ulla Engel and Inger Kjær

      Version of Record online: 22 JAN 2009 | DOI: 10.1002/ajmg.a.32631

    7. Assessing the understanding of biobank participants (pages 188–198)

      K.E. Ormond, A.L. Cirino, I.B. Helenowski, R.L. Chisholm and W.A. Wolf

      Version of Record online: 22 JAN 2009 | DOI: 10.1002/ajmg.a.32635

  4. Research Reviews

    1. Top of page
    2. New Syndrome
    3. Invited Comments
    4. Research Articles
    5. Research Reviews
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    9. Errata
    1. Rett syndrome and long-term disorder profile (pages 199–205)

      Eric E.J. Smeets, Mickey Chenault, Leopold M.G. Curfs, Connie T.R.M. Schrander-Stumpel and Jean-Pierre Frijns

      Version of Record online: 9 JAN 2009 | DOI: 10.1002/ajmg.a.32491

  5. Clinical Reports

    1. Top of page
    2. New Syndrome
    3. Invited Comments
    4. Research Articles
    5. Research Reviews
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    9. Errata
    1. Somatic TP53 mutation mosaicism in a patient with Li–Fraumeni syndrome (pages 206–211)

      Kamila Prochazkova, Kristyna Pavlikova, Marek Minarik, David Sumerauer, Roman Kodet and Zdenek Sedlacek

      Version of Record online: 14 NOV 2008 | DOI: 10.1002/ajmg.a.32574

    2. Somatic mosaicism in a patient with Lynch syndrome (pages 212–215)

      Chiara Pastrello, Mara Fornasarig, Elisa Pin, Eleonora Berto, Barbara Pivetta and Alessandra Viel

      Version of Record online: 9 JAN 2009 | DOI: 10.1002/ajmg.a.32620

    3. Autosomal dominant inheritance of cardiac valves anomalies in two families: Extended spectrum of left-ventricular outflow tract obstruction (pages 216–225)

      Marja W. Wessels, Ingrid M.B.H. van de Laar, Jolien Roos-Hesselink, Sipke Strikwerda, Danielle F. Majoor-Krakauer, Bert B.A. de Vries, Wilhelmina S. Kerstjens-Frederikse, Yvonne J. Vos, Bianca M. de Graaf, Aida M. Bertoli-Avella and Patrick J. Willems

      Version of Record online: 22 JAN 2009 | DOI: 10.1002/ajmg.a.32594

    4. Molecular cytogenetic characterization of a 4p15.1-pter duplication and a 4q35.1-qter deletion in a recombinant of chromosome 4 pericentric inversion (pages 226–231)

      M-L. Maurin, P. Labrune, S. Brisset, M. Le Lorc'h, D. Pineau, C. Castel, S. Romana and G. Tachdjian

      Version of Record online: 22 JAN 2009 | DOI: 10.1002/ajmg.a.32603

    5. A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome (pages 232–236)

      Stefano Sartori, Gabriella Di Rosa, Roberta Polli, Elisa Bettella, Giovanni Tricomi, Gaetano Tortorella and Alessandra Murgia

      Version of Record online: 22 JAN 2009 | DOI: 10.1002/ajmg.a.32606

    6. Familial 14.5 Mb interstitial deletion 13q21.1–13q21.33: Clinical and array-CGH study of a benign phenotype in a three-generation family (pages 237–241)

      Isabel Filges, Benno Röthlisberger, Christoph Noppen, Nemya Boesch, Friedel Wenzel, Judith Necker, Franz Binkert, Andreas R. Huber, Karl Heinimann and Peter Miny

      Version of Record online: 22 JAN 2009 | DOI: 10.1002/ajmg.a.32622

    7. Interstitial deletion 2p11.2–p12: Report of a patient with mental retardation and review of the literature (pages 242–245)

      Andreas Tzschach, Luitgard M. Graul-Neumann, Kateryna Konrat, Reyk Richter, Grit Ebert, Reinhard Ullmann and Heidemarie Neitzel

      Version of Record online: 22 JAN 2009 | DOI: 10.1002/ajmg.a.32637

    8. Further clinical delineation of the Börjeson–Forssman–Lehmann syndrome in patients with PHF6 mutations (pages 246–250)

      Melissa T. Carter, David J. Picketts, Alasdair G. Hunter and Gail E. Graham

      Version of Record online: 22 JAN 2009 | DOI: 10.1002/ajmg.a.32624

  6. Research Letters

    1. Top of page
    2. New Syndrome
    3. Invited Comments
    4. Research Articles
    5. Research Reviews
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    9. Errata
    1. Identification of sex chromosome mosaicism: Is analysis of 20 metaphase cells sufficient? (pages 257–259)

      Anne E. Wiktor, Grant Bender and Daniel L. Van Dyke

      Version of Record online: 22 JAN 2009 | DOI: 10.1002/ajmg.a.32625

    2. Muenke syndrome with osteochondroma (pages 260–261)

      Mafalda Barbosa, Maria do Rosário Almeida, Margarida Reis-Lima, Jorge Pinto-Basto and Heloísa Gonçalves dos Santos

      Version of Record online: 18 DEC 2008 | DOI: 10.1002/ajmg.a.32616

    3. Molecular cytogenetic characterization of two small supernumerary marker chromosomes derived from chromosome 19 (pages 262–265)

      Thomas R. Dennis, Gina N. Raptoulis, Heather J. Stalker, Debra Boles, Jeanne M. Meck, Donna M. Krasnewich, Raphael Schiffmann and Roberto T. Zori

      Version of Record online: 9 JAN 2009 | DOI: 10.1002/ajmg.a.32512

    4. Paradoxical association of extensive nevus flammeus together with unilateral lower limb and breast hypoplasia (pages 266–267)

      Marco Castori, Silvia Majore, Francesco Binni and Paola Grammatico

      Version of Record online: 9 JAN 2009 | DOI: 10.1002/ajmg.a.32591

    5. Mesiodens, a new microform of holoprosencephaly? (pages 268–271)

      Man Yee Chan, Keivan Shifteh and Alan L. Shanske

      Version of Record online: 22 JAN 2009 | DOI: 10.1002/ajmg.a.32604

    6. Further delineation of the critical region for the 9p-duplication syndrome (pages 272–276)

      Ying S. Zou, Xin-Li Huang, Masamichi Ito, Stephanie Newton and Jeff M. Milunsky

      Version of Record online: 22 JAN 2009 | DOI: 10.1002/ajmg.a.32607

    7. Hypogammaglobulinemia and Silver–Russell phenotype associated with partial trisomy 7q and partial monosomy 21q (pages 277–279)

      Hasibe Artac, Ismail Reisli, Mahmut Selman Yildirim, Gulseren Bagci, Guven Luleci, Orhan Hosgor and Sevim Karaaslan

      Version of Record online: 22 JAN 2009 | DOI: 10.1002/ajmg.a.32617

    8. Mutation in the COCH gene is associated with superior semicircular canal dehiscence (pages 280–285)

      Michael S. Hildebrand, Dylan Tack, Adam DeLuca, In Ae Hur, Jana M. Van Rybroek, Sarah J. McMordie, Ann Muilenburg, David P. Hoskinson, Guy Van Camp, Myles L. Pensak, Ian S. Storper, Patrick L.M. Huygen, Thomas L. Casavant and Richard J.H. Smith

      Version of Record online: 22 JAN 2009 | DOI: 10.1002/ajmg.a.32618

    9. Mutation analysis of the myocyte enhancer factor 2A gene (MEF2A) in patients with left ventricular hypertrophy/hypertrophic cardiomyopathy (pages 286–289)

      Eliecer Coto, Mónica G. Castro, Ana I. Corao, Cristina Alonso-Montes, Julián R. Reguero, César Morís and Victoria Alvarez

      Version of Record online: 22 JAN 2009 | DOI: 10.1002/ajmg.a.32621

    10. A partial trisomy 1q patient with a deletion 1q22 and an insertion 1(q42q44) into 1q22 (pages 290–293)

      Doriana Misceo, Mariano Rocchi, Carl Birger van der Hagen and Eirik Frengen

      Version of Record online: 22 JAN 2009 | DOI: 10.1002/ajmg.a.32623

  7. Correspondence

    1. Top of page
    2. New Syndrome
    3. Invited Comments
    4. Research Articles
    5. Research Reviews
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    9. Errata
    1. CLOVE(S) syndrome: Expanding the acronym (page 294)

      Ahmad I. Alomari

      Version of Record online: 22 JAN 2009 | DOI: 10.1002/ajmg.a.32632

    2. Response to “CLOVE(S) Syndrome: Expanding the Acronym” (page 295)

      Zoran Gucev and Leslie G. Biesecker

      Version of Record online: 9 JAN 2009 | DOI: 10.1002/ajmg.a.32636

  8. Errata

    1. Top of page
    2. New Syndrome
    3. Invited Comments
    4. Research Articles
    5. Research Reviews
    6. Clinical Reports
    7. Research Letters
    8. Correspondence
    9. Errata
    1. You have free access to this content
      Erratum to “Partial Growth Hormone Deficiency and Changed Bone Quality and Mass in Type I Trichorhinophalangeal Syndrome” Am J Med Genet Part A 146A:1598–1604 (page 296)

      Stefano Stagi, Giuseppe Bindi, Fiorella Galluzzi, Elisabetta Lapi, Roberto Salti and Francesco Chiarelli

      Version of Record online: 22 JAN 2009 | DOI: 10.1002/ajmg.a.32629

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