American Journal of Medical Genetics Part A

Cover image for Vol. 155 Issue 3

March 2011

Volume 155, Issue 3

Pages C1–C1, fm i–fm x, 459–666

  1. Cover Image

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Genetic Drift
    7. Invited Comments
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    12. Correpondence
    13. Correspondence
    14. Errata
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  2. Table of Contents

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Genetic Drift
    7. Invited Comments
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    12. Correpondence
    13. Correspondence
    14. Errata
    1. You have free access to this content
  3. the AJMG SEQUENCE

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Genetic Drift
    7. Invited Comments
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    12. Correpondence
    13. Correspondence
    14. Errata
    1. You have free access to this content
      New test catches most Turner syndrome cases (pages fm vii–fm viii)

      Deborah Levenson

      Version of Record online: 24 FEB 2011 | DOI: 10.1002/ajmg.a.33945

    2. You have free access to this content
    3. You have free access to this content
      In this issue (page fm x)

      Version of Record online: 24 FEB 2011 | DOI: 10.1002/ajmg.a.33947

  4. New Syndrome

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Genetic Drift
    7. Invited Comments
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    12. Correpondence
    13. Correspondence
    14. Errata
    1. You have free access to this content
      The difficult nosology of blepharophimosis–mental retardation syndromes: Report on two siblings (pages 459–465)

      Maria Lisa Dentici, Rita Mingarelli and Bruno Dallapiccola

      Version of Record online: 22 FEB 2011 | DOI: 10.1002/ajmg.a.33642

  5. Genetic Drift

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Genetic Drift
    7. Invited Comments
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    12. Correpondence
    13. Correspondence
    14. Errata
    1. You have free access to this content
  6. Invited Comments

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Genetic Drift
    7. Invited Comments
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    12. Correpondence
    13. Correspondence
    14. Errata
    1. Linking chromosome abnormality and copy number variation (pages 469–475)

      Jannine D. Cody and Daniel E. Hale

      Version of Record online: 22 FEB 2011 | DOI: 10.1002/ajmg.a.33849

  7. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Genetic Drift
    7. Invited Comments
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    12. Correpondence
    13. Correspondence
    14. Errata
    1. You have free access to this content
      Variable expression of neurofibromatosis 1 in monozygotic twins (pages 478–485)

      Margaret B. Rieley, David A. Stevenson, David H. Viskochil, Brad T. Tinkle, Lisa J. Martin and Elizabeth K. Schorry

      Version of Record online: 18 FEB 2011 | DOI: 10.1002/ajmg.a.33851

    2. You have free access to this content
      Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome (pages 486–507)

      Angela E. Lin, Mark E. Alexander, Steven D. Colan, Bronwyn Kerr, Katherine A. Rauen, Jacqueline Noonan, Jeanne Baffa, Elizabeth Hopkins, Katia Sol-Church, Giuseppe Limongelli, Maria Christina Digilio, Bruno Marino, A. Micheil Innes, Yoko Aoki, Michael Silberbach, Marie-Ange Delrue, Susan M. White, Robert M. Hamilton, William O'Connor, Paul D. Grossfeld, Leslie B. Smoot, Robert F. Padera and Karen W. Gripp

      Version of Record online: 22 FEB 2011 | DOI: 10.1002/ajmg.a.33857

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      Cantú syndrome: Report of nine new cases and expansion of the clinical phenotype (pages 508–518)

      Ingrid Scurr, Louise Wilson, Melissa Lees, Stephen Robertson, Edwin Kirk, Anne Turner, John Morton, Alexa Kidd, Vandana Shashi, Christy Stanley, Margaret Berry, Alan D. Irvine, David Goudie, Claire Turner, Carole Brewer and Sarah Smithson

      Version of Record online: 22 FEB 2011 | DOI: 10.1002/ajmg.a.33885

    4. Clinical phenotypes of a juvenile sibling pair carrying the fragile X premutation (pages 519–525)

      Kirin Basuta, Vivien Narcisa, Alyssa Chavez, Madhur Kumar, Louise Gane, Randi Hagerman and Flora Tassone

      Version of Record online: 22 FEB 2011 | DOI: 10.1002/ajmg.a.33446

    5. Grade 1 microtia, wide anterior fontanel and novel type tracheo-esophageal fistula in methimazole embryopathy (pages 526–533)

      Karen W. Gripp, Ranita Kuryan, Rhonda E. Schnur, Murtuza Kothawala, Lauren R. Davey, Michael J. Antunes, Kirk W. Reichard, Adele Schneider and Bryan D. Hall

      Version of Record online: 22 FEB 2011 | DOI: 10.1002/ajmg.a.33705

    6. Ophthalmic findings in the Greek isolate of Cohen syndrome (pages 534–539)

      Sofia Douzgou, John Randall Samples, Nelli Georgoudi and Michael Bjorn Petersen

      Version of Record online: 22 FEB 2011 | DOI: 10.1002/ajmg.a.33797

    7. The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann–Pick disease type C after therapy with miglustat (pages 540–547)

      Simona Fecarotta, Michele Amitrano, Alfonso Romano, Roberto Della Casa, Diana Bruschini, Luca Astarita, Giancarlo Parenti and Generoso Andria

      Version of Record online: 22 FEB 2011 | DOI: 10.1002/ajmg.a.33847

    8. Genetic dosage compensation in a family with velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome (pages 548–554)

      Avishai A. Alkalay, Tingwei Guo, Cristina Montagna, M. Cristina Digilio, Bruno Dallapiccola, Bruno Marino and Bernice Morrow

      Version of Record online: 18 FEB 2011 | DOI: 10.1002/ajmg.a.33861

    9. Descriptive study of nonsyndromic atrioventricular septal defects in the National Birth Defects Prevention Study, 1997–2005 (pages 555–564)

      Robert J. Hartman, Tiffany Riehle-Colarusso, Angela Lin, Jaime L. Frías, Sonali S. Patel, Kara Duwe, Adolfo Correa, Sonja A. Rasmussen and The National Birth Defects Prevention Study

      Version of Record online: 18 FEB 2011 | DOI: 10.1002/ajmg.a.33874

    10. Associated malformations among infants with neural tube defects (pages 565–568)

      Claude Stoll, Beatrice Dott, Yves Alembik and Marie-Paule Roth

      Version of Record online: 18 FEB 2011 | DOI: 10.1002/ajmg.a.33886

    11. Carnitine and coenzyme Q10 levels in individuals with Prader–Willi syndrome (pages 569–573)

      Jennifer L. Miller, Christy H. Lynn, Jonathan Shuster and Daniel J. Driscoll

      Version of Record online: 18 FEB 2011 | DOI: 10.1002/ajmg.a.33887

    12. Genetic screening for Krabbe disease: Learning from the past and looking to the future (pages 574–576)

      Michal Macarov, Joel Zlotogora, Vardiella Meiner, Zinab Khatib, Vivi Sury, Getu Mengistu, Ruth Bargal, Esther Shmueli, Bela Meidan and Marsha Zeigler

      Version of Record online: 22 FEB 2011 | DOI: 10.1002/ajmg.a.33815

  8. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Genetic Drift
    7. Invited Comments
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    12. Correpondence
    13. Correspondence
    14. Errata
    1. Oculoectodermal syndrome with coarctation of the aorta and moyamoya disease: Expanding the phenotype to include vascular anomalies (pages 577–581)

      Liran Horev, Melissa M. Lees, Irene Anteby, John M. Gomori, Roxana Gunny and Ziva Ben-Neriah

      Version of Record online: 18 FEB 2011 | DOI: 10.1002/ajmg.a.33104

    2. Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1 (pages 582–585)

      Martino Ruggieri, Mario Mastrangelo, Alberto Spalice, Rosanna Mariani, Isabella Torrente, Agata Polizzi, Irene Bottillo, Claudio Di Biase and Paola Iannetti

      Version of Record online: 22 FEB 2011 | DOI: 10.1002/ajmg.a.33318

    3. Craniomicromelic syndrome: First report in a male (pages 586–588)

      Prakash S. Gambhir and Sunita Gambhir

      Version of Record online: 18 FEB 2011 | DOI: 10.1002/ajmg.a.33451

    4. Another case of multiple juxtasutural hyperostoses, cervical exostoses, and fatty infiltration of myocardium (pages 589–594)

      Peter Kannu, David Perry, Martin Rees, Clare O'Donnell and Salim Aftimos

      Version of Record online: 18 FEB 2011 | DOI: 10.1002/ajmg.a.33499

    5. Hajdu–Cheney syndrome with severe dural ectasia (pages 595–598)

      Kristiina Avela, Leena Valanne, Ilkka Helenius and Outi Mäkitie

      Version of Record online: 18 FEB 2011 | DOI: 10.1002/ajmg.a.33510

    6. A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi families (pages 599–604)

      Wafaa Eyaid, Mohammad M. Al-Qattan, Ibrahim Al Abdulkareem, Nouf Fetaini and Mohammed Al Balwi

      Version of Record online: 22 FEB 2011 | DOI: 10.1002/ajmg.a.33717

    7. CNS imaging is a key diagnostic tool in the evaluation of patients with CFC syndrome: Two cases and literature review (pages 605–611)

      Eleftheria Papadopoulou, Stavros Sifakis, Katia Sol-Church, Eva Klein-Zighelboim, Deborah L. Stabley, Maria Raissaki, Karen W. Gripp and Maria Kalmanti

      Version of Record online: 18 FEB 2011 | DOI: 10.1002/ajmg.a.33787

    8. Multiple congenital anomalies and developmental delay in a boy associated with a de novo 16p13.3 deletion (pages 612–617)

      Marc Nelson, Shane Quinonez, Todd Ackley, Ram K. Iyer and Jeffrey W. Innis

      Version of Record online: 22 FEB 2011 | DOI: 10.1002/ajmg.a.33808

    9. Isolated skeletal malformations in a child with a small mosaic ring microduplication of 18 p11.21q11.2: Genotype–phenotype correlations (pages 618–621)

      Thomas P. Slavin, Kevin Kuruvilla, Christine A. Curtis, Laurie A. Christ and Anna L. Mitchell

      Version of Record online: 22 FEB 2011 | DOI: 10.1002/ajmg.a.33816

    10. Angiosarcoma in a patient with immunodeficiency, centromeric region instability, facial anomalies (ICF) syndrome (pages 622–625)

      Michiel van den Brand, Uta E. Flucke, Peter Bult, Corry M.R. Weemaes and Marcel van Deuren

      Version of Record online: 18 FEB 2011 | DOI: 10.1002/ajmg.a.33831

    11. Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis—Identification of a novel SLC34A3/NaPi-IIc mutation (pages 626–633)

      Priya Phulwani, Clemens Bergwitz, Graciana Jaureguiberry, Majjid Rasoulpour and Elizabeth Estrada

      Version of Record online: 22 FEB 2011 | DOI: 10.1002/ajmg.a.33832

    12. Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type – New findings with neuroimaging (pages 634–637)

      Katalin Szakszon, Ervin Berényi, András Jakab, Beáta Bessenyei, Erzsébet Balogh, Tamás Köbling, Judit Szilvássy, Alida C. Knegt and Éva Oláh

      Version of Record online: 22 FEB 2011 | DOI: 10.1002/ajmg.a.33837

    13. A girl with metopic synostosis and trisomy 13 mosaicism: Case report and review of the literature (pages 638–641)

      Ebru Aypar, M. Selman Yildirim, Ahmet Sert, Ilhan Ciftci and Dursun Odabas

      Version of Record online: 22 FEB 2011 | DOI: 10.1002/ajmg.a.33839

    14. Molecular cytogenetic and clinical characterization of a patient with a 5.6-Mb deletion in 7p15 including HOXA cluster (pages 642–647)

      Kyung Ran Jun, Eul-Ju Seo, Jin-Ok Lee, Han-Wook Yoo, In-Sook Park and Hye-Kyung Yoon

      Version of Record online: 22 FEB 2011 | DOI: 10.1002/ajmg.a.33860

  9. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Genetic Drift
    7. Invited Comments
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    12. Correpondence
    13. Correspondence
    14. Errata
    1. 500K SNP array analyses in blood and saliva showed no differences in a pair of monozygotic twins discordant for cleft lip (pages 652–655)

      Linda P. Jakobsen, Merete Bugge, Reinhard Ullmann, Charlotte K. Schjerling, Rehannah Borup, Lars Hansen, Hans Eiberg and Niels Tommerup

      Version of Record online: 22 FEB 2011 | DOI: 10.1002/ajmg.a.33855

    2. A family with partial duplication/deletion 4p due to a balanced t (4; 15) (p16.2; p11.2) translocation (pages 656–659)

      Lingqian Wu, Dahua Meng, Zhongmin Zhou, Juan Du, Zhigao Long and Desheng Liang

      Version of Record online: 23 FEB 2011 | DOI: 10.1002/ajmg.a.33867

  10. Correspondence

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Genetic Drift
    7. Invited Comments
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    12. Correpondence
    13. Correspondence
    14. Errata
    1. Alu-mediated recombination in the HAX1 gene as the molecular basis of severe congenital neutropenia (pages 660–661)

      Maria Kurnikova, Evgeniya Dinova, Irina Shagina and Dmitriy Shagin

      Version of Record online: 22 FEB 2011 | DOI: 10.1002/ajmg.a.33893

  11. Correpondence

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Genetic Drift
    7. Invited Comments
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    12. Correpondence
    13. Correspondence
    14. Errata
    1. Noncompaction is already known in DiGeorge anomaly from 22q11.2 deletion (pages 662–663)

      Claudia Stöllberger and Josef Finsterer

      Version of Record online: 18 FEB 2011 | DOI: 10.1002/ajmg.a.33706

  12. Correspondence

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Genetic Drift
    7. Invited Comments
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    12. Correpondence
    13. Correspondence
    14. Errata
    1. Response to Drs. Stöllberger and Finsterer “Noncompaction Is Already Known in DiGeorge Anomaly From 22q11.2 Deletion Syndrome” (pages 664–665)

      Shobhit Madan, Suneeta Madan-Khetarpal, Sang C. Park, Urvashi Surti, Ariel L. Bailey, Juliann McConnell and Sameh S. Tadros

      Version of Record online: 10 DEC 2010 | DOI: 10.1002/ajmg.a.33704

  13. Errata

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Genetic Drift
    7. Invited Comments
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    12. Correpondence
    13. Correspondence
    14. Errata
    1. You have free access to this content
      Erratum: Polymorphisms in KCNE1 or KCNE3 are not associated with Ménière disease in the Caucasian population (page 666)

      Colleen A. Campbell, Charley C. Della Santina, Nicole C. Meyer, Nancy B. Smith, Oluwaseun A. Myrie, Edwin M. Stone, Kuni Fukushima, Joseph Califano, John P. Carey, Marlan R. Hansen, Bruce J. Gantz, Lloyd B. Minor and Richard J.H. Smith

      Version of Record online: 24 FEB 2011 | DOI: 10.1002/ajmg.a.33949

      This article corrects:

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