American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

15 February 2007

Volume 143A, Issue 4

Pages 305–411

  1. Research Articles

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Research Reviews
    6. Book Reviews
    7. Correspondence
    1. Increased rate of major birth malformations in infants with neonatal “asymmetric crying face”: A hospital-based cohort study (pages 305–310)

      Gal Dubnov-Raz, Paul Merlob, Karen Geva-Dayan, Danith Blumenthal and Yaron Finkelstein

      Version of Record online: 26 JAN 2007 | DOI: 10.1002/ajmg.a.31551

    2. Neurodevelopmental deficits in Pierson (microcoria-congenital nephrosis) syndrome (pages 311–319)

      Elke Wühl, Jillene Kogan, Aleksandra Zurowska, Verena Matejas, Rene G. Vandevoorde, Thomas Aigner, Olaf Wendler, Iga Lesniewska, Raymonde Bouvier, André Reis, Joachim Weis, Pierre Cochat and Martin Zenker

      Version of Record online: 26 JAN 2007 | DOI: 10.1002/ajmg.a.31564

    3. Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome (pages 320–325)

      Juliana Forte Mazzeu, Eliete Pardono, Angela M. Vianna-Morgante, Antônio Richieri-Costa, Chong Ae Kim, Décio Brunoni, Lúcia Martelli, Carlos Eugênio F. de Andrade, Guilherme Colin and Paulo A. Otto

      Version of Record online: 26 JAN 2007 | DOI: 10.1002/ajmg.a.31592

  2. Clinical Reports

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Research Reviews
    6. Book Reviews
    7. Correspondence
    1. Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH (pages 333–337)

      Andreas Tzschach, Corinna Menzel, Fikret Erdogan, Marei Schubert, Maria Hoeltzenbein, Gotthold Barbi, Christine Petzenhauser, Hans-Hilger Ropers, Reinhard Ullmann and Vera Kalscheuer

      Version of Record online: 17 JAN 2007 | DOI: 10.1002/ajmg.a.31601

    2. De novo proximal duplication of 1(q12q22) in a female infant with multiple congenital anomalies (pages 338–342)

      Jeffrey R. Sawyer, Regina Lichti Binz, Charles M. Swanson and Cynthia Lim

      Version of Record online: 17 JAN 2007 | DOI: 10.1002/ajmg.a.31604

    3. Duplication 18q21.31-q22.2 (pages 343–348)

      Caterina Ceccarini, Lorenzo Sinibaldi, Laura Bernardini, Roberto De Simone, Rita Mingarelli, Antonio Novelli and Bruno Dallapiccola

      Version of Record online: 26 JAN 2007 | DOI: 10.1002/ajmg.a.31588

    4. Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: Is Carnevale syndrome a separate entity? (pages 349–354)

      Ali Al Kaissi, Klaus Klaushofer, Hatem Safi, Farid Ben Chehida, Maher Ben Ghachem, Myriam Chaabounni and Raoul C.M. Hennekam

      Version of Record online: 18 JAN 2007 | DOI: 10.1002/ajmg.a.31610

    5. Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS (pages 355–359)

      Heloísa G. Santos, Maria Almeida, Helena Fernandes and Andrew Wilkie

      Version of Record online: 26 JAN 2007 | DOI: 10.1002/ajmg.a.31556

    6. Skin changes in oculo-dento-digital dysplasia are correlated with C-terminal truncations of connexin 43 (pages 360–363)

      M. Vreeburg, E.A. de Zwart-Storm, M.I. Schouten, R.G.L. Nellen, D. Marcus-Soekarman, M. Devies, M. van Geel and M.A.M. van Steensel

      Version of Record online: 26 JAN 2007 | DOI: 10.1002/ajmg.a.31558

    7. Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes (pages 364–369)

      Hilde Van Esch, Anna Jansen, Marijke Bauters, Guy Froyen and Jean-Pierre Fryns

      Version of Record online: 26 JAN 2007 | DOI: 10.1002/ajmg.a.31572

    8. Two cases further delineating the Sakoda complex (pages 370–376)

      Melissa A. Dempsey, Wilfredo Torres-Martinez and Laurence E. Walsh

      Version of Record online: 26 JAN 2007 | DOI: 10.1002/ajmg.a.31582

    9. Pulmonary manifestations of Fabry disease and positive response to enzyme replacement therapy (pages 377–381)

      Woojin Kim, Reed E. Pyeritz, Barbara A. Bernhardt, Michael Casey and Harold I. Litt

      Version of Record online: 26 JAN 2007 | DOI: 10.1002/ajmg.a.31600

  3. Research Letters

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Research Reviews
    6. Book Reviews
    7. Correspondence
    1. Duplication of 14q11.2 associates with short stature and mild mental retardation: A putative relation with quantitative trait loci (pages 382–384)

      Sandra Monfort, David Blesa, Mónica Roselló, Carmen Orellana, Silvestre Oltra, Juan Cruz Cigudosa and Francisco Martínez

      Version of Record online: 17 JAN 2007 | DOI: 10.1002/ajmg.a.31608

    2. Paternal uniparental disomy of chromosome 13 causing homozygous 35delG mutation of the GJB2 gene and hearing loss (pages 385–386)

      Denise Yan, Xiao Mei Ouyang, Simon I. Angeli, Li Lin Du and Xue Zong Liu

      Version of Record online: 26 JAN 2007 | DOI: 10.1002/ajmg.a.31553

    3. Sydney crease frequency changes among the newborns and infants (pages 387–389)

      J. Román Corona-Rivera, Soledad Zarate-Ramírez, J. Jesús Pérez-Molina and Alfredo Corona-Rivera

      Version of Record online: 26 JAN 2007 | DOI: 10.1002/ajmg.a.31560

    4. A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia (pages 390–394)

      Patrick Tarpey, Trevor J. Pemberton, David W. Stockton, Parimal Das, Vasiliki Ninis, Sarah Edkins, P. Andrew Futreal, Richard Wooster, Sushanth Kamath, Rabindra Nayak, Michael R. Stratton and Pragna I. Patel

      Version of Record online: 26 JAN 2007 | DOI: 10.1002/ajmg.a.31567

  4. Research Reviews

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Research Reviews
    6. Book Reviews
    7. Correspondence
    1. Long-term follow-up of a 26-year-old male with duplication of 16p: Clinical report and review (pages 399–408)

      Mascha K. Rochat, Mariluce Riegel and Albert A. Schinzel

      Version of Record online: 17 JAN 2007 | DOI: 10.1002/ajmg.a.31605

  5. Book Reviews

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

    1. Top of page
    2. Research Articles
    3. Clinical Reports
    4. Research Letters
    5. Research Reviews
    6. Book Reviews
    7. Correspondence
    1. Maternal serum screening and 22q11.2 deletion syndrome (pages 410–411)

      Michael L. Begleiter, Molly M. Lund, Andrea M. Atherton, Janda D. Buchholz and Holly H. Ardinger

      Version of Record online: 17 JAN 2007 | DOI: 10.1002/ajmg.a.31616

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