American Journal of Medical Genetics Part A

Cover image for Vol. 152A Issue 3

March 2010

Volume 152A, Issue 3

Pages C1–C1, fm i–fm x, 539–805

  1. Cover Image

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Research Reviews
    8. Genetic Drift
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    12. Corrigenda
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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. Research Articles
    7. Research Reviews
    8. Genetic Drift
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    12. Corrigenda
    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. Research Articles
    7. Research Reviews
    8. Genetic Drift
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    12. Corrigenda
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    2. You have free access to this content
      Population screening beyond newborns (pages fm viii–fm ix)

      Deborah Levenson

      Version of Record online: 22 FEB 2010 | DOI: 10.1002/ajmg.a.33288

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

      Deborah Levenson

      Version of Record online: 22 FEB 2010 | DOI: 10.1002/ajmg.a.33289

  4. New Syndrome

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Research Reviews
    8. Genetic Drift
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    12. Corrigenda
    1. You have free access to this content
      Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)—A distinct syndrome? (pages 539–546)

      Sérgio B. Sousa, Geneviéve Baujat, Véronique Abadie, Damien Bonnet, Daniel Sidi, Arnold Munnich, Deborah Krakow and Valérie Cormier-Daire

      Version of Record online: 22 FEB 2010 | DOI: 10.1002/ajmg.a.33277

  5. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Research Reviews
    8. Genetic Drift
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    12. Corrigenda
    1. Natural history and manifestations of the hypermobility type Ehlers–Danlos syndrome: A pilot study on 21 patients (pages 556–564)

      Marco Castori, Filippo Camerota, Claudia Celletti, Chiara Danese, Valter Santilli, Vincenzo Maria Saraceni and Paola Grammatico

      Version of Record online: 5 FEB 2010 | DOI: 10.1002/ajmg.a.33231

    2. Potocki–Shaffer syndrome: Comprehensive clinical assessment, review of the literature, and proposals for medical management (pages 565–572)

      Daniel T. Swarr, Douglas Bloom, Richard Alan Lewis, Ewa Elenberg, Ellen M. Friedman, Caron Glotzbach, Scott D. Wissman, Lisa G. Shaffer and Lorraine Potocki

      Version of Record online: 5 FEB 2010 | DOI: 10.1002/ajmg.a.33245

    3. 22q13.3 deletion syndrome: Clinical and molecular analysis using array CGH (pages 573–581)

      S.U. Dhar, D. del Gaudio, J.R. German, S.U. Peters, Z. Ou, P.I. Bader, J.S. Berg, M. Blazo, C.W. Brown, B.H. Graham, T.A. Grebe, S. Lalani, M. Irons, S. Sparagana, M. Williams, J.A. Phillips III, A.L. Beaudet, P. Stankiewicz, A. Patel, S.W. Cheung and T. Sahoo

      Version of Record online: 22 FEB 2010 | DOI: 10.1002/ajmg.a.33253

    4. FOXE3 plays a significant role in autosomal recessive microphthalmia (pages 582–590)

      Linda M. Reis, Rebecca C. Tyler, Adele Schneider, Tanya Bardakjian, Joan M. Stoler, Serge B. Melancon and Elena V. Semina

      Version of Record online: 5 FEB 2010 | DOI: 10.1002/ajmg.a.33257

    5. Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: Cardiofaciocutaneous syndrome and Noonan syndrome (pages 591–600)

      Elizabeth I. Pierpont, Mary Ella Pierpont, Nancy J. Mendelsohn, Amy E. Roberts, Erica Tworog-Dube, Katherine A. Rauen and Mark S. Seidenberg

      Version of Record online: 22 FEB 2010 | DOI: 10.1002/ajmg.a.33268

    6. Monozygotic twins discordant for neurofibromatosis 1 (pages 601–606)

      Lee Kaplan, Rosemary Foster, Yiping Shen, Dilys M. Parry, Mary L. McMaster, Melanie Collins O'Leary and James F. Gusella

      Version of Record online: 22 FEB 2010 | DOI: 10.1002/ajmg.a.33271

    7. The importance of the family history in caring for families with long QT syndrome and dilated cardiomyopathy (pages 607–612)

      Jolien S. Ruiter, Karin Berkenbosch-Nieuwhof, Maarten P. van den Berg, Rene van Dijk, Berrie Middel and J. Peter van Tintelen

      Version of Record online: 22 FEB 2010 | DOI: 10.1002/ajmg.a.33270

    8. Mutations at KCNQ1 and an unknown locus cause long QT syndrome in a large Australian family: Implications for genetic testing (pages 613–621)

      Kim M. Summers, Nilesh J. Bokil, Foong Teng Lu, Jiun Tsuen Low, John M. Baisden, David Duffy and Dorothy J. Radford

      Version of Record online: 22 FEB 2010 | DOI: 10.1002/ajmg.a.33274

    9. Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-γ receptor 1 deficiency (pages 622–629)

      Carolina Prando, Stéphanie Boisson-Dupuis, Audrey V. Grant, Xiao-Fei Kong, Jacinta Bustamante, Jacqueline Feinberg, Ariane Chapgier, Yoann Rose, Lucile Jannière, Elena Rizzardi, Qiuping Zhang, Catherine M. Shanahan, Louis Viollet, Stanislas Lyonnet, Laurent Abel, Ezia Maria Ruga and Jean-Laurent Casanova

      Version of Record online: 22 FEB 2010 | DOI: 10.1002/ajmg.a.33291

    10. Investigation of a patient with a partial trisomy 16q including the fat mass and obesity associated gene (FTO): Fine mapping and FTO gene expression study (pages 630–637)

      Linda van den Berg, Henriette Delemarre-van de Waal, Joan C. Han, Bauke Ylstra, Paul Eijk, Maria Nesterova, Peter Heutink and Constantine A. Stratakis

      Version of Record online: 22 FEB 2010 | DOI: 10.1002/ajmg.a.33229

    11. Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation (pages 638–645)

      Dorien Lugtenberg, Luiz Zangrande-Vieira, Maria Kirchhoff, Annabel C. Whibley, Astrid R. Oudakker, Susanne Kjaergaard, Angela M. Vianna-Morgante, Tjitske Kleefstra, Mariken Ruiter, Fernanda S. Jehee, Reinhard Ullmann, Charles E. Schwartz, Michael Stratton, F. Lucy Raymond, Joris A. Veltman, Terry Vrijenhoek, Rolph Pfundt, Janneke H.M. Schuurs-Hoeijmakers, Jayne Y. Hehir-Kwa, Guy Froyen, Jamel Chelly, Hans Hilger Ropers, Claude Moraine, Jozef Gècz, Jeroen Knijnenburg, Sarina G. Kant, Ben C.J. Hamel, Carla Rosenberg, Hans van Bokhoven and Arjan P.M. de Brouwer

      Version of Record online: 22 FEB 2010 | DOI: 10.1002/ajmg.a.33292

    12. miRNA mutations are not a common cause of deafness (pages 646–652)

      Michael S. Hildebrand, P. Dane Witmer, Shunbin Xu, Stephen S. Newton, Kimia Kahrizi, Hossein Najmabadi, David Valle and Richard J.H. Smith

      Version of Record online: 22 FEB 2010 | DOI: 10.1002/ajmg.a.33299

    13. Pulmonary function and emphysema in Williams–Beuren syndrome (pages 653–656)

      Emily S. Wan, Barbara R. Pober, George R. Washko, Benjamin A. Raby and Edwin K. Silverman

      Version of Record online: 22 FEB 2010 | DOI: 10.1002/ajmg.a.33300

    14. Histology and synchrotron radiation-based microtomography of the inner ear in a molecularly confirmed case of CHARGE syndrome (pages 665–673)

      Rudolf Glueckert, Helge Rask-Andersen, Consolato Sergi, Joachim Schmutzhard, Bert Mueller, Felix Beckmann, Olaf Rittinger, Lies H. Hoefsloot, Anneliese Schrott-Fischer and Andreas R. Janecke

      Version of Record online: 22 FEB 2010 | DOI: 10.1002/ajmg.a.33321

  6. Research Reviews

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Research Reviews
    8. Genetic Drift
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    12. Corrigenda
    1. Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome (pages 674–686)

      Gabriel E. Zentner, Wanda S. Layman, Donna M. Martin and Peter C. Scacheri

      Version of Record online: 22 FEB 2010 | DOI: 10.1002/ajmg.a.33323

  7. Genetic Drift

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

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Research Reviews
    8. Genetic Drift
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    12. Corrigenda
    1. Hypoventilation in REM sleep in a case of 17p11.2 deletion (Smith–Magenis syndrome) (pages 708–712)

      Chiara Leoni, Laura Cesarini, Serena Dittoni, Domenica Battaglia, Antonio Novelli, Laura Bernardini, Anna Losurdo, Catello Vollono, Elisa Testani, Giacomo Della Marca and Giuseppe Zampino

      Version of Record online: 22 FEB 2010 | DOI: 10.1002/ajmg.a.32700

    2. Intellectual disability, midface hypoplasia, facial hypotonia, and alport syndrome are associated with a deletion in Xq22.3 (pages 713–717)

      Jayson D. Rodriguez, Shambhu S. Bhat, Ilaria Meloni, Sydney Ladd, Nancy D. Leslie, Emanuel O. Doyne, Alessandra Renieri, Barbara R. DuPont, Roger E. Stevenson, Charles E. Schwartz and Anand K. Srivastava

      Version of Record online: 22 FEB 2010 | DOI: 10.1002/ajmg.a.33208

    3. Monozygotic twins discordant for phacomatosis pigmentovascularis: Evidence for the concept of twin spotting (pages 718–720)

      Tanya Moutray, Maria Napier, Ayad Shafiq, Alan Fryer, Simon Rankin and Colin E. Willoughby

      Version of Record online: 22 FEB 2010 | DOI: 10.1002/ajmg.a.33232

    4. Prenatal diagnosis of a recombinant chromosome 7 resulting in trisomy 7q11.22 [RIGHTWARDS ARROW] qter (pages 721–725)

      M. Tchirikov, A. Merinsky, M. Strohner, M. Bonin, V. Beyer, T. Haaf and O. Bartsch

      Version of Record online: 22 FEB 2010 | DOI: 10.1002/ajmg.a.33238

    5. Mutational analysis of two boys with the severe perinatally lethal Melnick–Needles syndrome (pages 726–731)

      Helena H. Santos, Paula P. Garcia, Latife Pereira, Letícia L. Leão, Regina A.P.L. Aguiar, Ana M.A. Lana, Maria Raquel S. Carvalho and Marcos J.B. Aguiar

      Version of Record online: 22 FEB 2010 | DOI: 10.1002/ajmg.a.33260

    6. Mosaic deletion 11p13 in a child with dopamine beta-hydroxylase deficiency—Case report and review of the literature (pages 732–736)

      A. Erez, J. Li, M.T. Geraghty, S. Ben-Shachar, M.L. Cooper, D.E. Mensing, K.D. Vonalt, Z. Ou, A.N. Pursley, A.C. Chinault, A. Patel, S.W. Cheung and T. Sahoo

      Version of Record online: 22 FEB 2010 | DOI: 10.1002/ajmg.a.33269

    7. c. 595-596 insC of FOXC2 underlies lymphedema, distichiasis, ptosis, ankyloglossia, and Robin sequence in a Thai patient (pages 737–740)

      Pranoot Tanpaiboon, Piranit Kantaputra, Karn Wejathikul and Wirawit Piyamongkol

      Version of Record online: 22 FEB 2010 | DOI: 10.1002/ajmg.a.33273

    8. Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy (pages 741–747)

      Verity McClelland, Thomas Cullup, Istvan Bodi, Deborah Ruddy, Anna Buj-Bello, Valerie Biancalana, J. Boehm, Marc Bitoun, Owen Miller, Wajanat Jan, Esse Menson, Luis Amaya, John Trounce, Jocelyn Laporte, Shehla Mohammed, Caroline Sewry, Julian Raiman and Heinz Jungbluth

      Version of Record online: 22 FEB 2010 | DOI: 10.1002/ajmg.a.33296

    9. Magnetic resonance imaging of a unique mutation in a family with Pelizaeus–Merzbacher disease (pages 748–752)

      Elka Miller, Elysa Widjaja, Daniel Nilsson, Grace Yoon, Brenda Banwell and Susan Blaser

      Version of Record online: 22 FEB 2010 | DOI: 10.1002/ajmg.a.33305

    10. A rare case of trisomy 15pter-q21.2 due to a de novo marker chromosome (pages 753–758)

      Ade Nubia Xavier Pacanaro, Denise Maria Christofolini, Leslie Domenici Kulikowski, Sintia Iole Nogueira Belangero, Fernanda Teixeira da Silva Bellucco, Monica C. Varela, Celia P. Koiffmann, Maisa Yoshimoto, Jeremy A. Squire, Adriana V. Schiavon, Benjamin Heck and Maria Isabel Melaragno

      Version of Record online: 22 FEB 2010 | DOI: 10.1002/ajmg.a.33308

    11. Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: Longitudinal observation of a patient homozygous for a CRLF1 mutation (pages 764–769)

      Masanori Yamazaki, Tomoki Kosho, Shigeo Kawachi, Maiko Mikoshiba, Jun Takahashi, Rena Sano, Kenji Oka, Kunihiro Yoshida, Tomoharu Watanabe, Hiroyuki Kato, Mitsuhisa Komatsu, Rie Kawamura, Keiko Wakui, Per M. Knappskog, Helge Boman and Yoshimitsu Fukushima

      Version of Record online: 22 FEB 2010 | DOI: 10.1002/ajmg.a.33315

    12. Novel ANKH mutation in a patient with sporadic craniometaphyseal dysplasia (pages 770–776)

      Allison Zajac, Seung-Hak Baek, Imad Salhab, Melissa A. Radecki, Sukwha Kim, Hakon Hakonarson and Hyun-Duck Nah

      Version of Record online: 22 FEB 2010 | DOI: 10.1002/ajmg.a.33317

    13. VACTERL association in a cat (pages 777–780)

      Enio Moura, Silvana M. Cirio and José A. Villanova Jr.

      Version of Record online: 22 FEB 2010 | DOI: 10.1002/ajmg.a.33265

  9. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Research Reviews
    8. Genetic Drift
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    12. Corrigenda
    1. Sonic hedgehog mutation analysis in patients with VACTERL association (pages 781–783)

      Mónica Aguinaga, Juan Carlos Zenteno, Héctor Pérez-Cano and Verónica Morán

      Version of Record online: 22 FEB 2010 | DOI: 10.1002/ajmg.a.33293

    2. De novo triple segmental aneuploid of 1p, 1q, and 4q in a girl with hypertrophic cardiomyopathy, muscle hypotonia, and multiple congenital anomalies (pages 784–788)

      Gwo-Chin Ma, Yu-Yuan Ke, Meng-Luen Lee, Long-Yen Tsao, Dong-Jay Lee, Chin-Wen Yang, Shou-Jen Kuo, Han-Yao Chiu and Ming Chen

      Version of Record online: 5 FEB 2010 | DOI: 10.1002/ajmg.a.33157

    3. Prenatal findings of paternal uniparental disomy 14: Report of four patients (pages 789–791)

      Michiko Yamanaka, Hiroshi Ishikawa, Keisuke Saito, Yasuyo Maruyama, Katsuske Ozawa, Jun Shibasaki, Gen Nishimura and Kenji Kurosawa

      Version of Record online: 22 FEB 2010 | DOI: 10.1002/ajmg.a.33247

    4. Isolated congenital amastia: A subclavian artery supply disruption sequence? (pages 792–794)

      Sebastiano Bianca, Maria Licciardello, Barbara Barrano and Giuseppe Ettore

      Version of Record online: 22 FEB 2010 | DOI: 10.1002/ajmg.a.33255

    5. Multiple genomic imbalances detected in a single family by array comparative genomic hybridization: Novel complexities for the clinician (pages 797–799)

      Robin McGoey, Shyam Sathyamoorthi, Juan J. Gershanik, Olivier Thelin and Yves Lacassie

      Version of Record online: 22 FEB 2010 | DOI: 10.1002/ajmg.a.33310

    6. Survival of children with mosaic Down syndrome (pages 800–801)

      Mikyong Shin, Csaba Siffel and Adolfo Correa

      Version of Record online: 22 FEB 2010 | DOI: 10.1002/ajmg.a.33295

  10. Correspondence

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Research Reviews
    8. Genetic Drift
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    12. Corrigenda
    1. 5q35 duplication and Hunter–McAlpine syndrome: Missing the link (pages 802–803)

      Horacio Rivera and Ana I. Vásquez-Velásquez

      Version of Record online: 22 FEB 2010 | DOI: 10.1002/ajmg.a.33262

    2. Reply to 5q35 duplication and Hunter–McAlpine syndrome: Missing the link (page 804)

      Ariana Kariminejad, Andreas Tzschach and Roxana Kariminejad

      Version of Record online: 22 FEB 2010 | DOI: 10.1002/ajmg.a.33272

  11. Corrigenda

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Research Reviews
    8. Genetic Drift
    9. Clinical Reports
    10. Research Letters
    11. Correspondence
    12. Corrigenda
    1. You have free access to this content
      De novo terminal 22q12.3q13.3 duplication with pituitary hypoplasia (Am J Med Genet Part A 149A:2554–2556) (page 805)

      Nicola Brunetti-Pierri, Ankita Patel, Chester W. Brown, Ronald A. Rauch and Rubina A. Heptulla

      Version of Record online: 22 FEB 2010 | DOI: 10.1002/ajmg.a.33267

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