American Journal of Medical Genetics Part A

Cover image for Vol. 152A Issue 12

December 2010

Volume 152A, Issue 12

Pages C1–C1, fm i–fm x, 2943–3205

  1. Cover Image

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

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

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

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Reviews
    7. New Syndrome
    8. Genetic Drift
    9. Invited Comments
    10. Research Articles
    11. Clinical Reports
    12. Research Letters
    13. Reviewer Listing
    1. You have free access to this content
      Retinoid signaling in inner ear development: A “Goldilocks” phenomenon (pages 2947–2961)

      Dorothy A. Frenz, Wei Liu, Ales Cvekl, Qing Xie, Lesley Wassef, Loredana Quadro, Karen Niederreither, Mark Maconochie and Alan Shanske

      Article first published online: 24 NOV 2010 | DOI: 10.1002/ajmg.a.33670

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      Lrp4: A novel modulator of extracellular signaling in craniofacial organogenesis (pages 2974–2983)

      Atsushi Ohazama, Thantrira Porntaveetus, Masato S. Ota, Joachim Herz and Paul T. Sharpe

      Article first published online: 28 APR 2010 | DOI: 10.1002/ajmg.a.33372

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    5. You have free access to this content
      Craniofacial ciliopathies: A new classification for craniofacial disorders (pages 2995–3006)

      Samantha A. Brugmann, Dwight R. Cordero and Jill A. Helms

      Article first published online: 24 NOV 2010 | DOI: 10.1002/ajmg.a.33727

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      Genetic basis of potential therapeutic strategies for craniosynostosis (pages 3007–3015)

      Heather Melville, Yingli Wang, Peter J. Taub and Ethylin Wang Jabs

      Article first published online: 16 NOV 2010 | DOI: 10.1002/ajmg.a.33703

  6. New Syndrome

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Reviews
    7. New Syndrome
    8. Genetic Drift
    9. Invited Comments
    10. Research Articles
    11. Clinical Reports
    12. Research Letters
    13. Reviewer Listing
    1. You have free access to this content
      Brachydactyly type A1 with short humerus and associated skeletal features (pages 3016–3021)

      Didier Lacombe, Marie-Ange Delrue, Caroline Rooryck, Fanny Morice-Picard, Benoît Arveiler, Brigitte Maugey-Laulom, Stefan Mundlos, Annick Toutain and Jean-François Chateil

      Article first published online: 12 NOV 2010 | DOI: 10.1002/ajmg.a.33761

  7. Genetic Drift

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

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

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Reviews
    7. New Syndrome
    8. Genetic Drift
    9. Invited Comments
    10. Research Articles
    11. Clinical Reports
    12. Research Letters
    13. Reviewer Listing
    1. Donepezil for treatment of cognitive dysfunction in children with Down syndrome aged 10–17 (pages 3028–3035)

      Priya S. Kishnani, James H. Heller, Gail A. Spiridigliozzi, Ira Lott, Luis Escobar, Sharon Richardson, Richard Zhang and Thomas McRae

      Article first published online: 24 NOV 2010 | DOI: 10.1002/ajmg.a.33730

    2. New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene (pages 3036–3042)

      Malwina Czarny-Ratajczak, Tadeusz Bieganski, Piotr Rogala, Maciej Glowacki, Tomasz Trzeciak and Kazimierz Kozlowski

      Article first published online: 12 NOV 2010 | DOI: 10.1002/ajmg.a.33707

    3. Characterization of a de novo balanced t(4;20)(q33;q12) translocation in a patient with mental retardation (pages 3057–3067)

      Kenichiro Yamada, Daisuke Fukushi, Takao Ono, Yoko Kondo, Reiko Kimura, Noriko Nomura, Ken-jiro Kosaki, Yasukazu Yamada, Seiji Mizuno and Nobuaki Wakamatsu

      Article first published online: 17 NOV 2010 | DOI: 10.1002/ajmg.a.33174

    4. Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpoints (pages 3074–3083)

      Marzena Gajecka, Sulagna C. Saitta, Andrew J. Gentles, Lindsey Campbell, Karen Ciprero, Elizabeth Geiger, Anne Catherwood, Jill A. Rosenfeld, Tamim Shaikh and Lisa G. Shaffer

      Article first published online: 24 NOV 2010 | DOI: 10.1002/ajmg.a.33733

    5. UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients (pages 3084–3090)

      Nicole de Leeuw, Saskia Bulk, Andrew Green, Lane Jaeckle-Santos, Linda A. Baker, Andrew R. Zinn, Tjitske Kleefstra, Jasper J. van der Smagt, Angela Maria Vianne Morgante, Bert B.A. de Vries, Hans van Bokhoven and Arjan P.M. de Brouwer

      Article first published online: 24 NOV 2010 | DOI: 10.1002/ajmg.a.33743

  10. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Reviews
    7. New Syndrome
    8. Genetic Drift
    9. Invited Comments
    10. Research Articles
    11. Clinical Reports
    12. Research Letters
    13. Reviewer Listing
    1. Further delineation of the Van den Ende–Gupta syndrome (pages 3095–3100)

      Rehab Ali, Mariam Almureikhi, Fatima Al-Musaifri, Venkatraman Bhat, Ahmad Teebi and Tawfeg Ben-Omran

      Article first published online: 24 NOV 2010 | DOI: 10.1002/ajmg.a.33725

    2. Macrocephaly–capillary malformation: Analysis of 13 patients and review of the diagnostic criteria (pages 3101–3106)

      Víctor Martínez-Glez, Valeria Romanelli, María A. Mori, Ricardo Gracia, Mabel Segovia, Antonio González-Meneses, Juan C. López-Gutierrez, Esther Gean, Loreto Martorell and Pablo Lapunzina

      Article first published online: 12 NOV 2010 | DOI: 10.1002/ajmg.a.33514

    3. IRF6 mutations in mixed isolated familial clefting (pages 3107–3109)

      Katherine D. Rutledge, Christina Barger, John H. Grant and Nathaniel H. Robin

      Article first published online: 16 NOV 2010 | DOI: 10.1002/ajmg.a.33053

    4. Deletion of 7q34–q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features (pages 3115–3119)

      Line T. Sehested, Rikke S. Møller, Iben Bache, Noemi B. Andersen, Reinhard Ullmann, Niels Tommerup and Zeynep Tümer

      Article first published online: 16 NOV 2010 | DOI: 10.1002/ajmg.a.33476

    5. Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH (pages 3124–3128)

      Morag Collinson, Samantha J. Leonard, Jocelyn Charlton, John A. Crolla, Caroline Silve, Christine M. Hall, Colin Oglivie, Margaret A. James and Sarah F. Smithson

      Article first published online: 16 NOV 2010 | DOI: 10.1002/ajmg.a.33567

    6. A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis (pages 3129–3132)

      Young Bae Sohn, Su Jin Kim, Sung Won Park, Hyung-Doo Park, Chang-Seok Ki, Chi Hwa Kim, Seung Won Huh, Sunghee Yeau, Kyung-Hoon Paik and Dong-Kyu Jin

      Article first published online: 24 NOV 2010 | DOI: 10.1002/ajmg.a.33589

    7. Familial Ohtahara syndrome due to a novel ARX gene mutation (pages 3133–3137)

      L. Giordano, S. Sartori, S. Russo, P. Accorsi, J. Galli, A. Tiberti, E. Bettella, M. Marchi, A. Vignoli, F. Darra, A. Murgia and B. Dalla Bernardina

      Article first published online: 24 NOV 2010 | DOI: 10.1002/ajmg.a.33701

    8. Genital abnormalities in Pallister–Hall syndrome: Report of two patients and review of the literature (pages 3143–3147)

      Yoko Narumi, Tomoki Kosho, Goro Tsuruta, Masaaki Shiohara, Ei Shimazaki, Tetsuo Mori, Ayako Shimizu, Yasuhiko Igawa, Shuji Nishizawa, Kimiyo Takagi, Rie Kawamura, Keiko Wakui and Yoshimitsu Fukushima

      Article first published online: 24 NOV 2010 | DOI: 10.1002/ajmg.a.33720

    9. HAX1 mutations causing severe congenital neuropenia and neurological disease lead to cerebral microstructural abnormalities documented by quantitative MRI (pages 3157–3163)

      Kaan Boztug, Xiao-Qi Ding, Hans Hartmann, Lena Ziesenitz, Alejandro A. Schäffer, Jana Diestelhorst, Dietmar Pfeifer, Giridharan Appaswamy, Sonja Kehbel, Thorsten Simon, Abdullah Al Jefri, Heinrich Lanfermann and Christoph Klein

      Article first published online: 24 NOV 2010 | DOI: 10.1002/ajmg.a.33748

    10. Identification of a microdeletion at the 7q33-q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case (pages 3164–3172)

      Aline L. Petrin, Célia M. Giacheti, Luciana P. Maximino, Dagma V. M. Abramides, Sthella Zanchetta, Natalia F. Rossi, Antônio Richieri-Costa and Jeffrey C. Murray

      Article first published online: 24 NOV 2010 | DOI: 10.1002/ajmg.a.33749

    11. Further evidence for the pathogenicity of 15q24 microduplications distal to the minimal critical regions (pages 3173–3178)

      Katharina M. Roetzer, Thomas Schwarzbraun, Anna C. Obenauf, Erwin Hauser and Michael R. Speicher

      Article first published online: 24 NOV 2010 | DOI: 10.1002/ajmg.a.33750

  11. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Reviews
    7. New Syndrome
    8. Genetic Drift
    9. Invited Comments
    10. Research Articles
    11. Clinical Reports
    12. Research Letters
    13. Reviewer Listing
    1. Poland anomaly and hydranencephaly: An unusual association (pages 3182–3184)

      Dilek Coban, Tamer Gunes, Mustafa Ali Akin, Mustafa Akcakus and Ali Yikilmaz

      Article first published online: 24 NOV 2010 | DOI: 10.1002/ajmg.a.33306

    2. Prenatal findings of paternal uniparental disomy 14: Delineation of further patient (pages 3189–3192)

      Nobuhiro Suzumori, Tsutomu Ogata, Eita Mizutani, Yukio Hattori, Keiko Matsubara, Masayo Kagami and Mayumi Sugiura-Ogasawara

      Article first published online: 24 NOV 2010 | DOI: 10.1002/ajmg.a.33719

  12. Reviewer Listing

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Reviews
    7. New Syndrome
    8. Genetic Drift
    9. Invited Comments
    10. Research Articles
    11. Clinical Reports
    12. Research Letters
    13. Reviewer Listing
    1. You have free access to this content
      2009 reviewer listing (pages 3203–3205)

      Feliz Martinez and John C. Carey

      Article first published online: 24 NOV 2010 | DOI: 10.1002/ajmg.a.33745

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