American Journal of Medical Genetics Part A

Cover image for Vol. 161 Issue 1

January 2013

Volume 161, Issue 1

Pages C1–C1, fm i–fm v, vii–x, 1–236

  1. Cover Image

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Correspondence
    10. Corrigenda
    1. You have free access to this content
  2. Table of Contents

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Correspondence
    10. 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. Invited Comments
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Correspondence
    10. Corrigenda
    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 x)

      Version of Record online: 24 DEC 2012 | DOI: 10.1002/ajmg.a.35822

  4. Invited Comments

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Correspondence
    10. Corrigenda
    1. Word smithing in medical genetics. Part II (pages 1–3)

      M. Michael Cohen Jr.

      Version of Record online: 6 NOV 2012 | DOI: 10.1002/ajmg.a.35364

  5. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Correspondence
    10. Corrigenda
    1. The prevalence of lip vermilion morphological traits in a 15-year-old population (pages 4–12)

      Caryl Wilson, Rebecca Playle, Arshed Toma, Alexei Zhurov, Andy Ness and Stephen Richmond

      Version of Record online: 3 DEC 2012 | DOI: 10.1002/ajmg.a.35515

    2. Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: Diagnostic and management issues (pages 13–20)

      Michal Inbar-Feigenberg, Sanaa Choufani, Cheryl Cytrynbaum, Yi-An Chen, Leslie Steele, Cheryl Shuman, Peter N. Ray and Dr. Rosanna Weksberg

      Version of Record online: 13 DEC 2012 | DOI: 10.1002/ajmg.a.35651

    3. Hypersociability in the behavioral phenotype of 17q21.31 microdeletion syndrome (pages 21–26)

      Jos I.M. Egger, Ellen Wingbermühle, Willem M.A. Verhoeven, Marije Dijkman, Sina Radke, Ellen R.A. de Bruijn, Bert de Vries, Roy P.C. Kessels and David Koolen

      Version of Record online: 20 NOV 2012 | DOI: 10.1002/ajmg.a.35652

    4. Characterization of fat distribution in Prader–Willi syndrome: Relationships with adipocytokines and influence of growth hormone treatment (pages 27–33)

      Yuriko Tanaka, Yoshiko Abe, Yuji Oto, Hisashi Itabashi, Masahisa Shiraishi, Atsunori Yoshino, Kazuo Obata, Nobuyuki Murakami and Toshiro Nagai

      Version of Record online: 13 DEC 2012 | DOI: 10.1002/ajmg.a.35653

    5. Hyperinsulinemic hypoglycemia of infancy in Sotos syndrome (pages 34–37)

      Terumichi Matsuo, Dr. Kenji Ihara, Masayuki Ochiai, Tadamune Kinjo, Yoko Yoshikawa, Kanako Kojima-Ishii, Marie Noda, Hiroshi Mizumoto, Maiko Misaki, Kyoko Minagawa, Koji Tominaga and Toshiro Hara

      Version of Record online: 13 DEC 2012 | DOI: 10.1002/ajmg.a.35657

    6. Maternal perspectives on the return of genetic results: Context matters (pages 38–47)

      Kimberley D. Lakes, Elaine Vaughan, Amy Lemke, Marissa Jones, Timothy Wigal, Dean Baker, James M. Swanson and Wylie Burke

      Version of Record online: 13 DEC 2012 | DOI: 10.1002/ajmg.a.35673

    7. “It's about having the choice”: Stakeholder perceptions of population-based genetic carrier screening for fragile X syndrome (pages 48–58)

      Alison D. Archibald, Chriselle L. Hickerton, Alice M. Jaques, Samantha Wake, Jonathan Cohen and Prof. Sylvia A. Metcalfe

      Version of Record online: 13 DEC 2012 | DOI: 10.1002/ajmg.a.35674

    8. Newborn screening and cascade testing for FMR1 mutations (pages 59–69)

      Page L. Sorensen, Louise W. Gane, Mark Yarborough, Randi J. Hagerman and Flora Tassone

      Version of Record online: 13 DEC 2012 | DOI: 10.1002/ajmg.a.35680

    9. Reproductive patterns among mothers of males diagnosed with Duchenne or Becker muscular dystrophy (pages 70–75)

      Sarah K. Nabukera, Paul A. Romitti, Kristin M. Caspers, Natalie Street, Christopher Cunniff, Katherine D. Mathews, Deborah J. Fox, Soman Puzhankara, Emma Ciafaloni, Katherine A. James, Yin Su and the MD STARnet

      Version of Record online: 13 DEC 2012 | DOI: 10.1002/ajmg.a.35682

    10. The practice of adult genetics: A 7-year experience from a single center (pages 89–93)

      Tanya N. Eble, Sandesh C.S. Nagamani, Luis M. Franco, Sharon E. Plon, Maria Blazo and Shweta U. Dhar

      Version of Record online: 13 DEC 2012 | DOI: 10.1002/ajmg.a.35684

    11. Behavior in preschool children with the 22q11.2 deletion syndrome (pages 94–101)

      Petra Klaassen, Sasja Duijff, Henriette Swanenburg de Veye, Jacob Vorstman, Frits Beemer and Gerben Sinnema

      Version of Record online: 13 DEC 2012 | DOI: 10.1002/ajmg.a.35685

    12. “Mandibulofacial dysostosis with microcephaly” caused by EFTUD2 mutations: Expanding the phenotype (pages 108–113)

      Daniela V. Luquetti, Anne V. Hing, Mark J. Rieder, Deborah A. Nickerson, Emily H. Turner, Joshua Smith, Sarah Park and Michael L. Cunningham

      Version of Record online: 14 DEC 2012 | DOI: 10.1002/ajmg.a.35696

    13. Cardiac anomalies in Axenfeld–Rieger syndrome due to a novel FOXC1 mutation (pages 114–119)

      Karen W. Gripp, Elizabeth Hopkins, Kim Jenny, Deepika Thacker and Jonathan Salvin

      Version of Record online: 14 DEC 2012 | DOI: 10.1002/ajmg.a.35697

    14. Clinical utility of the X-chromosome array (pages 120–130)

      Yuri A. Zarate, Alka Dwivedi, Frank O. Bartel, M. Allison Bellomo, Sara S. Cathey, Neena L. Champaigne, L. Kate Clarkson, Barbara R. DuPont, David B. Everman, Joseph S. Geer, Barbara C. Gordon, Angie W. Lichty, Michael J. Lyons, R. Curtis Rogers, Robert A. Saul, Richard J. Schroer, Steven A. Skinner and Roger E. Stevenson

      Version of Record online: 3 DEC 2012 | DOI: 10.1002/ajmg.a.35698

    15. Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion (pages 131–136)

      Kimberly A. Aldinger, Jillene Kogan, Virginia Kimonis, Bridget Fernandez, Denise Horn, Eva Klopocki, Brian Chung, Annick Toutain, Rosanna Weksberg, Kathleen J. Millen, A. James Barkovich and Dr. William B. Dobyns

      Version of Record online: 7 DEC 2012 | DOI: 10.1002/ajmg.a.35700

    16. Duplication of 20p12.3 associated with familial Wolff–Parkinson–White syndrome (pages 137–144)

      Kimberly I. Mills, Jacqueline Anderson, Philip T. Levy, F. Sessions Cole, Jennifer N.A. Silva, Shashikant Kulkarni and Marwan Shinawi

      Version of Record online: 13 DEC 2012 | DOI: 10.1002/ajmg.a.35701

    17. A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing (pages 145–152)

      Isabelle Schrauwen, Manou Sommen, Jason J. Corneveaux, Rebecca A. Reiman, Nicole J. Hackett, Charlotte Claes, Kathleen Claes, Maria Bitner-Glindzicz, Paul Coucke, Guy Van Camp and Matthew J. Huentelman

      Version of Record online: 3 DEC 2012 | DOI: 10.1002/ajmg.a.35737

  6. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Correspondence
    10. Corrigenda
    1. Severe craniosynostosis in an infant with deletion 22q11.2 syndrome (pages 153–157)

      W. Al-Hertani, V.A. Hastings, J. McGowan-Jordan, J. Hurteau and Gail E. Graham

      Version of Record online: 13 DEC 2012 | DOI: 10.1002/ajmg.a.35491

    2. Phelan–McDermid syndrome: Clinical report of a 70-year-old woman (pages 158–161)

      Willem M.A. Verhoeven, Jos I.M. Egger, Ruthy Cohen-Snuijf, Sarina G. Kant and Nicole de Leeuw

      Version of Record online: 19 NOV 2012 | DOI: 10.1002/ajmg.a.35597

    3. A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndrome (pages 162–165)

      Anne Debost-Legrand, Eleonore Eymard-Pierre, Céline Pebrel-Richard, Laetitia Gouas, Carole Goumy, Michel Giollant, Wiem Ayed, Andreï Tchirkov, Christine Francannet and Philippe Vago

      Version of Record online: 13 DEC 2012 | DOI: 10.1002/ajmg.a.35614

    4. Mosaic maternal uniparental disomy of chromosome 15 in Prader–Willi syndrome: Utility of genome-wide SNP array (pages 166–171)

      Kosuke Izumi, Avni B. Santani, Matthew A. Deardorff, Holly A. Feret, Tanya Tischler, Brian D. Thiel, Surabhi Mulchandani, Catherine A. Stolle, Nancy B. Spinner, Elaine H. Zackai and Laura K. Conlin

      Version of Record online: 7 DEC 2012 | DOI: 10.1002/ajmg.a.35625

    5. 1.15 Mb microdeletion in chromosome band 20p13 associated with moderate developmental delay—Additional case and data's review (pages 172–178)

      Aleksandra Jezela-Stanek, Marzena Kucharczyk, Magdalena Pelc, Anna Gutkowska and Małgorzata Krajewska-Walasek

      Version of Record online: 19 NOV 2012 | DOI: 10.1002/ajmg.a.35654

    6. Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations (pages 185–191)

      Polakit Teekakirikul, Dianna M. Milewicz, David T. Miller, Ronald V. Lacro, Ellen S. Regalado, Ana Maria Rosales, Daniel P. Ryan, Tomi L. Toler and Angela E. Lin

      Version of Record online: 13 DEC 2012 | DOI: 10.1002/ajmg.a.35659

    7. A novel mutation in CDKN1C in sibs with Beckwith–Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases (pages 192–197)

      Piranit Nik Kantaputra, Rekwan Sittiwangkul, Nuntigar Sonsuwan, Valeria Romanelli, Jair Tenorio and Pablo Lapunzina

      Version of Record online: 29 NOV 2012 | DOI: 10.1002/ajmg.a.35663

    8. A 137-kb deletion within the Potocki–Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia (pages 198–202)

      Nathan D. Montgomery, Christie M. Turcott, James H. Tepperberg, Marie T. McDonald and Arthur S. Aylsworth

      Version of Record online: 13 DEC 2012 | DOI: 10.1002/ajmg.a.35671

    9. A case of cerebral hypomyelination with spondylo-epi-metaphyseal dysplasia (pages 203–207)

      Shihoko Kimura-Ohba, Kuriko Kagitani-Shimono, Natsuko Hashimoto, Shin Nabatame, Takeshi Okinaga, Akira Murakami, Noriko Miyake, Naomichi Matsumoto, Hitoshi Osaka, Keiko Hojo, Reiko Tomita, Masako Taniike and Keiichi Ozono

      Version of Record online: 13 DEC 2012 | DOI: 10.1002/ajmg.a.35686

    10. Maternal transmission of interstitial 8p23.1 deletion detected during prenatal diagnosis (pages 208–213)

      F. Guimiot, C. Dupont, A. Fuentes-Duarte, A. Aboura, A. Bazin, S. Khung-Savatovsky, I. Tillous-Borde, A.-L. Delezoide and A. Azancot

      Version of Record online: 14 DEC 2012 | DOI: 10.1002/ajmg.a.35690

    11. Delayed onset congenital hypothyroidism in a patient with DUOX2 mutations and maternal iodine excess (pages 214–217)

      Toshihiko Kasahara, Satoshi Narumi, Keisuke Okasora, Ryuzo Takaya, Hiroshi Tamai and Tomonobu Hasegawa

      Version of Record online: 14 DEC 2012 | DOI: 10.1002/ajmg.a.35693

    12. Proximal and distal 15q25.2 microdeletions–genotype–phenotype delineation of two neurodevelopmental susceptibility loci (pages 218–224)

      Sandra C. Doelken, Karl Seeger, Patrick Hundsdoerfer, Wencke Weber-Ferro, Eva Klopocki and Luitgard Graul-Neumann

      Version of Record online: 14 DEC 2012 | DOI: 10.1002/ajmg.a.35695

  7. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Correspondence
    10. Corrigenda
    1. Weaver syndrome and defective cortical development: A rare association (pages 225–227)

      Ahmed Al-Salem, Muneera J. Alshammari, Hamdy Hassan, Anas M. Alazami and Fowzan S. Alkuraya

      Version of Record online: 13 DEC 2012 | DOI: 10.1002/ajmg.a.35660

  8. Correspondence

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Correspondence
    10. Corrigenda
    1. Syndromes A, syndromes B, syndromes C (pages 228–229)

      Jürgen Spranger

      Version of Record online: 13 DEC 2012 | DOI: 10.1002/ajmg.a.35442

    2. Hypertrophic cardiomyopathy: How far should we go with genetic testing? (pages 232–233)

      Jill A. Fahrner, Anne M. Murphy and Meral Gunay-Aygun

      Version of Record online: 13 DEC 2012 | DOI: 10.1002/ajmg.a.35666

    3. Additional evidence that the ryanodine receptor gene (RYR1) causes malignant hyperthermia and severe skeletal malformations (pages 234–235)

      Yosuke Kakisaka, Dr. Kazuhiro Haginoya, Yuko Takahashi, Tatsuhiro Ochiai, Ikuma Fujiwara, Atsuo Kikuchi, Keisuke Wakusawa, Satoru Kobayashi, Hirosato Kikuchi, Yasuko Ichihara, Shinichiro Takahashi and Ichizo Nishino

      Version of Record online: 13 DEC 2012 | DOI: 10.1002/ajmg.a.35678

  9. Corrigenda

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. Research Articles
    7. Clinical Reports
    8. Research Letters
    9. Correspondence
    10. Corrigenda
    1. You have free access to this content
      Corrigendum to “The Learning Disabilities Network (LeaDNet): Using Neurofibromatosis Type 1 [NF1] as a Paradigm for Translational Research” (page 236)

      Maria T. Acosta, Carrie E. Bearden, Xavier F. Castellanos, Laurie Cutting, Ype Elgersma, Gerard Gioia, David H. Gutmann, Yong-Seok Lee, Eric Legius, Maximillian Muenke, Kathryn North, Luis F. Parada, Nancy Ratner, Kim Hunter-Schaedle and Alcino J. Silva

      Version of Record online: 24 DEC 2012 | DOI: 10.1002/ajmg.a.35667

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