American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

December 2011

Volume 155, Issue 12

Pages C1–C1, fm i–fm vi, ix–xii, 2905–3176

  1. Cover Image

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

      Article first published online: 21 NOV 2011 | DOI: 10.1002/ajmg.a.34381

  4. Commentary

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

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

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

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Commentary
    6. Invited Comments
    7. Genetic Drift
    8. New Syndrome
    9. Invited Comments
    10. Research Articles
    11. Clinical Reports
    12. Research Letters
    13. Book Reviews
    14. Errata
    1. You have free access to this content
      Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3 (pages 2910–2915)

      Emma M. Jenkinson, Helen Kingston, Jill Urquhart, Naz Khan, Athalie Melville, Martin Swinton, Yanick J. Crow, Julian R.E. Davis, Dorothy Trump and William G. Newman

      Article first published online: 14 OCT 2011 | DOI: 10.1002/ajmg.a.34292

  8. Invited Comments

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

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Commentary
    6. Invited Comments
    7. Genetic Drift
    8. New Syndrome
    9. Invited Comments
    10. Research Articles
    11. Clinical Reports
    12. Research Letters
    13. Book Reviews
    14. Errata
    1. Axenfeld–Rieger anomaly and Axenfeld–Rieger syndrome: Clinical, molecular-cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25 (pages 2925–2932)

      Hidefumi Tonoki, Naoki Harada, Osamu Shimokawa, Ayako Yosozumi, Kadomi Monzaki, Kohei Satoh, Rika Kosaki, Atsushi Sato, Naomichi Matsumoto and Susumu Iizuka

      Article first published online: 18 OCT 2011 | DOI: 10.1002/ajmg.a.33858

    2. Patterns of prenatal alcohol exposure and associated non-characteristic minor structural malformations: A prospective study (pages 2949–2955)

      Haruna Sawada Feldman, Kenneth Lyons Jones, Suzanne Lindsay, Donald Slymen, Hillary Klonoff-Cohen, Kelly Kao, Smriti Rao and Christina Chambers

      Article first published online: 14 OCT 2011 | DOI: 10.1002/ajmg.a.34276

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      A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome (pages 2956–2963)

      Lynne M. Bird, Wen-Hann Tan, Carlos A. Bacino, Sarika U. Peters, Steven A. Skinner, Irina Anselm, Rene Barbieri-Welge, Astrid Bauer-Carlin, Jennifer K. Gentile, Daniel G. Glaze, Lucia T. Horowitz, K. Naga Mohan, Mark P. Nespeca, Trilochan Sahoo, Dean Sarco, Susan E. Waisbren and Arthur L. Beaudet

      Article first published online: 14 OCT 2011 | DOI: 10.1002/ajmg.a.34297

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      Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region (pages 2964–2969)

      Bitten Schönewolf-Greulich, Anne Ronan, Kristine Ravn, Peter Baekgaard, Marianne Lodahl, Kate Nielsen, Nanna D. Rendtorff, Lisbeth Tranebjaerg, Karen Brøndum-Nielsen and Zeynep Tümer

      Article first published online: 3 NOV 2011 | DOI: 10.1002/ajmg.a.34302

    5. A polymorphism in the growth hormone receptor is associated with height in children with Prader–Willi syndrome (pages 2970–2973)

      Sung Won Park, Seung-Tae Lee, Young Bae Sohn, Se Hwa Kim, Sung-Yoon Cho, Ah-ra Ko, Sun-Tae Ji, Jeong-Yi Kwon, Sunghee Yeau, Kyung-Hoon Paik, Jong-Won Kim and Dong-Kyu Jin

      Article first published online: 3 NOV 2011 | DOI: 10.1002/ajmg.a.34309

    6. Objective assessment of nasality in flemish adults with neurofibromatosis type 1 (pages 2974–2981)

      Marjan Cosyns, Geert Mortier, Sandra Janssens, Kathleen Claes and John Van Borsel

      Article first published online: 3 NOV 2011 | DOI: 10.1002/ajmg.a.34314

    7. Mosaic marker chromosome 16 resulting in 16q11.2–q12.1 gain in a child with intellectual disability, microcephaly, and cerebellar cortical dysplasia (pages 2991–2996)

      Ayelet Zerem, Chana Vinkler, Marina Michelson, Esther Leshinsky-Silver, Tally Lerman-Sagie and Dorit Lev

      Article first published online: 3 NOV 2011 | DOI: 10.1002/ajmg.a.34316

    8. Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A (pages 3002–3006)

      Fuki M. Hisama, Davor Lessel, Dru Leistritz, Katrin Friedrich, Kim L. McBride, Matthew T. Pastore, Gary S. Gottesman, Bidisha Saha, George M. Martin, Christian Kubisch and Junko Oshima

      Article first published online: 7 NOV 2011 | DOI: 10.1002/ajmg.a.34336

    9. Causes of death and autopsy findings in a large study cohort of individuals with Cornelia de Lange syndrome and review of the literature (pages 3007–3024)

      Samantha A. Schrier, Ilana Sherer, Matthew A. Deardorff, Dinah Clark, Lynn Audette, Lynette Gillis, Antonie D. Kline, Linda Ernst, Kathleen Loomes, Ian D. Krantz and Laird G. Jackson

      Article first published online: 8 NOV 2011 | DOI: 10.1002/ajmg.a.34329

  10. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Commentary
    6. Invited Comments
    7. Genetic Drift
    8. New Syndrome
    9. Invited Comments
    10. Research Articles
    11. Clinical Reports
    12. Research Letters
    13. Book Reviews
    14. Errata
    1. Childhood onset of left ventricular dysfunction in a female manifesting carrier of muscular dystrophy (pages 3025–3029)

      Hugo R. Martinez, Ricardo Pignatelli, John W. Belmont, William J. Craigen and John L. Jefferies

      Article first published online: 3 NOV 2011 | DOI: 10.1002/ajmg.a.33784

    2. Coffin–Lowry syndrome and left ventricular noncompaction cardiomyopathy with a restrictive pattern (pages 3030–3034)

      Hugo R. Martinez, Mary C. Niu, V. Reid Sutton, Ricardo Pignatelli, Matteo Vatta and John L. Jefferies

      Article first published online: 18 OCT 2011 | DOI: 10.1002/ajmg.a.33856

    3. You have full text access to this OnlineOpen article
      New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect (pages 3035–3041)

      Maha S. Zaki, Ghada M. H. Abdel Salam, Sahar N. Saleem, William B. Dobyns, Mahmoud Y. Issa, Shifteh Sattar and Joseph G. Gleeson

      Article first published online: 14 OCT 2011 | DOI: 10.1002/ajmg.a.34078

    4. You have full text access to this OnlineOpen article
    5. Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr (pages 3050–3053)

      Eva Barroso, Virginia Pérez-Carrizosa, Ignacio García-Recuero, Marc J. Glucksman, Andrew O. Wilkie, Sixto García-Minaur and Karen E. Heath

      Article first published online: 28 OCT 2011 | DOI: 10.1002/ajmg.a.34199

    6. The first case of myoclonic epilepsy in a child with a de novo 22q11.2 microduplication (pages 3054–3059)

      Maria Piccione, Davide Vecchio, Simona Cavani, Michela Malacarne, Mauro Pierluigi and Giovanni Corsello

      Article first published online: 14 OCT 2011 | DOI: 10.1002/ajmg.a.34275

    7. Ablepharon–Macrostomia syndrome—Extension of the phenotype (pages 3060–3062)

      Staci Kallish, Donna M. McDonald-McGinn, Mieke M. van Haelst, Scott P. Bartlett, James A. Katowitz and Elaine H. Zackai

      Article first published online: 14 OCT 2011 | DOI: 10.1002/ajmg.a.34287

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      Clinical manifestations and management of four children with Pearson syndrome (pages 3063–3066)

      Manuela Tumino, Concetta Meli, Piero Farruggia, Milena La Spina, Maura Faraci, Cinzia Castana, Vincenzo Di Raimondo, Marivana Alfano, Annarita Pittalà, Luca Lo Nigro, Giovanna Russo and Andrea Di Cataldo

      Article first published online: 19 OCT 2011 | DOI: 10.1002/ajmg.a.34288

    9. Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability (pages 3067–3070)

      Gertrud Strobl-Wildemann, Vera M. Kalscheuer, Hao Hu, Klaus Wrogemann, Hans-Hilger Ropers and Andreas Tzschach

      Article first published online: 14 OCT 2011 | DOI: 10.1002/ajmg.a.34291

    10. Combined partial trisomy 11q and partial monosomy 10p in a 19-year-old female patient: Phenotypic and genotypic findings (pages 3075–3081)

      Anja Hagen, Arndt Bigl, Dorothea Wand, Eva Klopocki, Raoul Heller, Manuela Siekmeyer, Werner Siekmeyer, Wieland Kiess and Andreas Merkenschlager

      Article first published online: 3 NOV 2011 | DOI: 10.1002/ajmg.a.34300

    11. Severe neonatal-onset panniculitis in a female infant with Prader–Willi syndrome (pages 3087–3089)

      Muthukumar Sakthivel, Stephen M. Hughes, Phil Riley, Peter D. Arkwright, Anindya Mukherjee, Simon Ramsden, Jill Urquhart and Yanick J. Crow

      Article first published online: 3 NOV 2011 | DOI: 10.1002/ajmg.a.34318

    12. Vascular Ehlers–Danlos syndrome presenting as rapidly progressive multiple arterial aneurysms and dissections (pages 3090–3094)

      Eduardo J. Mortani Barbosa Jr., Reed E. Pyeritz, Harold Litt and Benoit Desjardins

      Article first published online: 7 NOV 2011 | DOI: 10.1002/ajmg.a.34332

    13. Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome (pages 3095–3099)

      Dar-Shong Lin, Jui-Hsing Chang, Hsuan-Liang Liu, Chin-Hung Wei, Chun-Yan Yeung, Che-Sheng Ho, Chyong-Hsin Shu, Ming-Fu Chiang, Chih-Kuang Chuang, Yu-Wen Huang, Tsu-Yen Wu, Yuan-Ren Jian, Zon-Darr Huang and Shuan-Pei Lin

      Article first published online: 3 NOV 2011 | DOI: 10.1002/ajmg.a.34326

    14. A newborn with overlapping features of AEC and EEC syndromes (pages 3100–3103)

      Tolga Hasan Celik, Ayse Buyukcam, Pelin Ozlem Simsek-Kiper, Gulen Eda Utine, Sibel Ersoy-Evans, Ayse Korkmaz, Helger G. Yntema, Koray Bodugroglu and Murat Yurdakok

      Article first published online: 7 NOV 2011 | DOI: 10.1002/ajmg.a.34328

    15. You have full text access to this OnlineOpen article
      Functional characterization of a novel TP63 mutation in a family with overlapping features of Rapp-Hodgkin/AEC/ADULT syndromes (pages 3104–3109)

      Valeria Serra, Marco Castori, Mauro Paradisi, Laura Bui, Gerry Melino and Alessandro Terrinoni

      Article first published online: 8 NOV 2011 | DOI: 10.1002/ajmg.a.34335

    16. Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay (pages 3110–3115)

      Trilochan Sahoo, Aaron Theisen, Michael Marble, Raymond Tervo, Jill A. Rosenfeld, Beth S. Torchia and Lisa G. Shaffer

      Article first published online: 7 NOV 2011 | DOI: 10.1002/ajmg.a.34345

  11. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Commentary
    6. Invited Comments
    7. Genetic Drift
    8. New Syndrome
    9. Invited Comments
    10. Research Articles
    11. Clinical Reports
    12. Research Letters
    13. Book Reviews
    14. Errata
    1. Acrofrontofacionasal dysostosis 1 in two sisters of Indian origin (pages 3125–3127)

      Paolo Prontera, Riccardo Urciuoli, Sabrina Siliquini, Sara Macone, Gabriela Stangoni, Emilio Donti, Teresa Anna Cantisani, Maurizio Elia and Vincenzo Belcastro

      Article first published online: 3 NOV 2011 | DOI: 10.1002/ajmg.a.34295

    2. A novel interstitial microdeletion of 7q22.1-7q22.3 detected by array comparative genomic hybridization (pages 3128–3131)

      Zuhair N. Al-Hassnan, AlBandary Al-Bakheet, Nada Abu-Dheim, Banan Al-Younes, Dilek Colak and Namik Kaya

      Article first published online: 14 OCT 2011 | DOI: 10.1002/ajmg.a.34298

    3. Genetic and clinical profiles of spondylocostal dysostosis patients in Taiwan (pages 3132–3135)

      Chung-Hsing Wang, Wei-De Lin, Da-Tian Bau, I-Ching Chou and Fuu-Jen Tsai

      Article first published online: 3 NOV 2011 | DOI: 10.1002/ajmg.a.34301

    4. Short stature due to 15q26 microdeletion involving IGF1R: Report of an additional case and review of the literature (pages 3139–3143)

      Laura I. Rudaks, Jillian K. Nicholl, Drago Bratkovic and Christopher P. Barnett

      Article first published online: 7 NOV 2011 | DOI: 10.1002/ajmg.a.34310

    5. A novel Xp22.11 deletion causing a syndrome of craniosynostosis and periventricular nodular heterotopia (pages 3144–3147)

      Margriet van Kogelenberg, Margherita Lerone, Teresa De Toni, Maria T. Divizia, Arjan P.M. de Brouwer, Joris A. Veltman, Hans van Bokhoven and Stephen P. Robertson

      Article first published online: 3 NOV 2011 | DOI: 10.1002/ajmg.a.34311

    6. 8p21 microdeletion in a patient with intellectual disability and behavioral abnormalities (pages 3148–3152)

      Kosuke Izumi, Heather Mikesell, Robert Daber, Grace Chao, Anne L. Hutchinson, Nancy B. Spinner and Aditi S. Parikh

      Article first published online: 7 NOV 2011 | DOI: 10.1002/ajmg.a.34317

    7. Striking phenotypic variability in familial TRPV4-axonal neuropathy spectrum disorder (pages 3153–3156)

      Sharon Aharoni, Gaurav Harlalka, Amaka Offiah, Avinoam Shuper, Andrew H. Crosby and Meriel McEntagart

      Article first published online: 7 NOV 2011 | DOI: 10.1002/ajmg.a.34327

    8. Reassessment of oral frenula in Ehlers–Danlos syndrome: A study of 32 patients with the hypermobility type (pages 3157–3159)

      Claudia Celletti, Marco Castori, Giuseppe La Torre, Paola Grammatico, Gianfranco Morico and Filippo Camerota

      Article first published online: 7 NOV 2011 | DOI: 10.1002/ajmg.a.34330

    9. Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology (pages 3160–3163)

      Gretchen Oswald, Cathleen Lawson, Gerald Raymond, W. Christopher Golden and Nancy Braverman

      Article first published online: 3 NOV 2011 | DOI: 10.1002/ajmg.a.34331

    10. Intragenic deletion of UBE3A gene in 2 sisters with Angelman syndrome detected by MLPA (pages 3170–3173)

      Juliette Piard, Christel Depienne, Boris Keren, Estelle Fédirko, Oriane Trouillard, Perrine Charles and Delphine Heron

      Article first published online: 7 NOV 2011 | DOI: 10.1002/ajmg.a.34334

  12. Book Reviews

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

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

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