American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

15 December 2006

Volume 140A, Issue 24

Pages 2707–2840

  1. In Memoriam

    1. Top of page
    2. In Memoriam
    3. New Syndrome
    4. Research Articles
    5. Clinical Reports
    6. Invited Comments
    7. Research Letters
    8. Correspondence
    9. Corrigenda
    1. In memoriam: Hooshang Taybi, M.D. (1919–2006) (pages 2707–2708)

      Ralph Lachman and John C. Carey

      Article first published online: 13 NOV 2006 | DOI: 10.1002/ajmg.a.31533

  2. New Syndrome

    1. Top of page
    2. In Memoriam
    3. New Syndrome
    4. Research Articles
    5. Clinical Reports
    6. Invited Comments
    7. Research Letters
    8. Correspondence
    9. Corrigenda
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      Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: A “new” syndrome? (pages 2709–2713)

      Mette Warburg, Susanne Ullman, Hanne Jensen, Hans Pedersen, Takasi Kobayashi, Bjørn Russell, Lisbeth Tranebjaerg, Gabriele Richard and Karen Brøndum-Nielsen

      Article first published online: 13 NOV 2006 | DOI: 10.1002/ajmg.a.31543

  3. Research Articles

    1. Top of page
    2. In Memoriam
    3. New Syndrome
    4. Research Articles
    5. Clinical Reports
    6. Invited Comments
    7. Research Letters
    8. Correspondence
    9. Corrigenda
    1. A new genomic mechanism leading to cri-du-chat syndrome (pages 2714–2720)

      Sarah T. South, Jeffrey J. Swensen, Teresa Maxwell, Alan Rope, Arthur R. Brothman and Zhong Chen

      Article first published online: 13 NOV 2006 | DOI: 10.1002/ajmg.a.31496

    2. Karyotype–phenotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangement (pages 2721–2729)

      Peining Li, Hui Z. Zhang, Shannon Huff, Manjunath Nimmakayalu, Mazin Qumsiyeh, Jingwei Yu, Anna Szekely, Tian Xu and Barbara R. Pober

      Article first published online: 13 NOV 2006 | DOI: 10.1002/ajmg.a.31498

    3. Clinical features and management issues in Mowat–Wilson syndrome (pages 2730–2741)

      Margaret P. Adam, Susan Schelley, Renata Gallagher, April N. Brady, Kimberly Barr, Bruce Blumberg, Joseph T.C. Shieh, John Graham, Anne Slavotinek, Madelena Martin, Kim Keppler-Noreuil, Andrea L. Storm and Louanne Hudgins

      Article first published online: 13 NOV 2006 | DOI: 10.1002/ajmg.a.31530

    4. A syndrome of holoprosencephaly, recurrent infections, and monocytosis (pages 2742–2748)

      Paul T. Jubinsky, Alan L. Shanske, Fiona J. Pixley, Cristina Montagna and Mary K. Short

      Article first published online: 13 NOV 2006 | DOI: 10.1002/ajmg.a.31542

    5. Detection of low-level mosaicism by array CGH in routine diagnostic specimens (pages 2757–2767)

      Blake C. Ballif, Emily A. Rorem, Kyle Sundin, Matt Lincicum, Shannon Gaskin, Justine Coppinger, Catherine D. Kashork, Lisa G. Shaffer and Bassem A. Bejjani

      Article first published online: 13 NOV 2006 | DOI: 10.1002/ajmg.a.31539

    6. Phenotypic definition of Chiari type I malformation coupled with high-density SNP genome screen shows significant evidence for linkage to regions on chromosomes 9 and 15 (pages 2776–2785)

      Abee L. Boyles, David S. Enterline, Preston H. Hammock, Deborah G. Siegel, Susan H. Slifer, Lorraine Mehltretter, John R. Gilbert, Diane Hu-Lince, Dietrich Stephan, Ulrich Batzdorf, Edward Benzel, Richard Ellenbogen, Barth A. Green, Roger Kula, Arnold Menezes, Diane Mueller, John J. Oro', Bermans J. Iskandar, Timothy M. George, Thomas H. Milhorat and Marcy C. Speer

      Article first published online: 13 NOV 2006 | DOI: 10.1002/ajmg.a.31546

    7. High-throughput analysis of chromosome abnormality in spontaneous miscarriage using an MLPA subtelomere assay with an ancillary FISH test for polyploidy (pages 2786–2793)

      Damien L. Bruno, Trent Burgess, Hua Ren, Sara Nouri, Mark D. Pertile, David I. Francis, Fiona Norris, Bronwyn K. Kenney, Jan Schouten, K.H. Andy Choo and Howard R. Slater

      Article first published online: 14 NOV 2006 | DOI: 10.1002/ajmg.a.31552

  4. Clinical Reports

    1. Top of page
    2. In Memoriam
    3. New Syndrome
    4. Research Articles
    5. Clinical Reports
    6. Invited Comments
    7. Research Letters
    8. Correspondence
    9. Corrigenda
    1. Sudden infant death in a patient with FGFR3 P250R mutation (pages 2794–2796)

      P.S. Shah, K. Siriwardena, G. Taylor, L. Steele, P. Ray, S. Blaser and D. Chitayat

      Article first published online: 13 NOV 2006 | DOI: 10.1002/ajmg.a.31517

    2. A new distal arthrogryposis syndrome characterized by plantar flexion contractures (pages 2797–2801)

      D.A. Stevenson, K.J. Swoboda, R.K. Sanders and M. Bamshad

      Article first published online: 13 NOV 2006 | DOI: 10.1002/ajmg.a.31528

    3. A report of pure 7p duplication syndrome and review of the literature (pages 2802–2806)

      E. Papadopoulou, S. Sifakis, C. Sarri, J. Gyftodimou, T. Liehr, K. Mrasek, M. Kalmanti and M.B. Petersen

      Article first published online: 13 NOV 2006 | DOI: 10.1002/ajmg.a.31538

    4. Psychopathology in the Lujan–Fryns syndrome: Report of two patients and review (pages 2807–2811)

      Ivan Lerma-Carrillo, Juan D. Molina, Teresa Cuevas-Duran, Carmen Julve-Correcher, Juan M. Espejo-Saavedra, Cristina Andrade-Rosa and Francisco Lopez-Muñoz

      Article first published online: 11 OCT 2006 | DOI: 10.1002/ajmg.a.31503

  5. Invited Comments

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

    1. Top of page
    2. In Memoriam
    3. New Syndrome
    4. Research Articles
    5. Clinical Reports
    6. Invited Comments
    7. Research Letters
    8. Correspondence
    9. Corrigenda
    1. High incidence of short rib-polydactyly syndrome type IV in a Hungarian Roma subpopulation (pages 2816–2818)

      Nóra Kovács, Ilona Sárkány, Gabriella Mohay, Károly Adamovich, Tibor Ertl, György Kosztolányi and Richard Kellermayer

      Article first published online: 20 OCT 2006 | DOI: 10.1002/ajmg.a.31461

    2. Unusual dicentric chromosome 22 associated with a 22q13 deletion (pages 2819–2823)

      Tina Babineau, Heather L. Wilson, Angelika J. Dawson, Bernard N. Chodirker, Vazken M. Der Kaloustian, Suzanne Demczuk and Heather E. McDermid

      Article first published online: 13 NOV 2006 | DOI: 10.1002/ajmg.a.31500

    3. Immunoglobulin deficiency in Stickler syndrome (pages 2824–2827)

      Zamaneh Mikhak, Pamela Kelly, Tatyana S. Cohen, Joanne E. Cox and Virginia E. Kimonis

      Article first published online: 13 NOV 2006 | DOI: 10.1002/ajmg.a.31513

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      Concordant partial urorectal septum malformation sequence in monozygotic twins (pages 2828–2831)

      Marek Lubusky, Martin Prochazka, Ishraq Dhaifalah, Jan Halek, Ivana Mickova and Jiri Santavy

      Article first published online: 13 NOV 2006 | DOI: 10.1002/ajmg.a.31523

    5. The G397A (E133K) change in the AGGF1 (VG5Q) gene is a single nucleotide polymorphism in the Spanish population (pages 2832–2833)

      Silvia Gutierrez, Luis Magano, Alicia Delicado, María A. Mori, María L. de Torres, Luis Fernández, María Palomares, Eva Fernández, Gemma R. Tarduchy, Jesús Molano, Ricardo Gracia, Isidora López Pajares and Pablo Lapunzina

      Article first published online: 13 NOV 2006 | DOI: 10.1002/ajmg.a.31532

    6. Hepatoblastoma in a patient with Goldenhar syndrome born to a diabetic mother (pages 2834–2837)

      J. Román Corona-Rivera, Fernando Sánchez-Zubieta, Noemí Silva-Padilla, Oscar González-Ramella, Eloy López-Marure, Ezequiel Vélez-Gómez, Jaime Orozco-Pérez, Verónica Soto-Chávez and Alfredo Corona-Rivera

      Article first published online: 13 NOV 2006 | DOI: 10.1002/ajmg.a.31537

  7. Correspondence

    1. Top of page
    2. In Memoriam
    3. New Syndrome
    4. Research Articles
    5. Clinical Reports
    6. Invited Comments
    7. Research Letters
    8. Correspondence
    9. Corrigenda
    1. A microdeletion 22q11.2 can resemble Shprintzen–Goldberg omphalocele syndrome (pages 2838–2839)

      Sibylle Strenge, Annegret Kujat, Leopoldo Zelante and Ursula G. Froster

      Article first published online: 13 NOV 2006 | DOI: 10.1002/ajmg.a.31534

  8. Corrigenda

    1. Top of page
    2. In Memoriam
    3. New Syndrome
    4. Research Articles
    5. Clinical Reports
    6. Invited Comments
    7. Research Letters
    8. Correspondence
    9. Corrigenda
    1. You have free access to this content
      Frontometaphyseal dysplasia: Mutations in FLNA and phenotypic diversity (Am J Med Genet 140A: 1726–1736) (page 2840)

      Stephen P. Robertson, Zandra A. Jenkins, Timothy Morgan, Lesley Adès, Salim Aftimos, Odile Boute, Torunn Fiskerstrand, Sixto Garcia-Miñaur, Arthur Grix, Andrew Green, Vazken Der Kaloustian, Ray Lewkonia, Brenda McInnes, Mieke M. van Haelst, Grazia Macini, Tamás Illés, Geert Mortier, Ruth Newbury-Ecob, Linda Nicholson, Charles I. Scott, Karolina Ochman, Izabela Brożek, Deborah J. Shears, Andrea Superti-Furga, Mohnish Suri, Margo Whiteford, Andrew O.M. Wilkie and Deborah Krakow

      Article first published online: 21 NOV 2006 | DOI: 10.1002/ajmg.a.31549

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