American Journal of Medical Genetics Part A

Cover image for Vol. 155 Issue 10

October 2011

Volume 155, Issue 10

Pages C1–C1, fm i–fm v, vii–x, 2335–2607

  1. Cover Image

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Book Reviews
    9. Correspondence
    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. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Book Reviews
    9. Correspondence
    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. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Book Reviews
    9. Correspondence
    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. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Book Reviews
    9. Correspondence
    1. Having a brother or sister with Down syndrome: Perspectives from siblings (pages 2348–2359)

      Brian G. Skotko, Susan P. Levine and Richard Goldstein

      Article first published online: 9 SEP 2011 | DOI: 10.1002/ajmg.a.34228

    2. Self-perceptions from people with Down syndrome (pages 2360–2369)

      Brian G. Skotko, Susan P. Levine and Richard Goldstein

      Article first published online: 9 SEP 2011 | DOI: 10.1002/ajmg.a.34235

    3. X-linked VACTERL with hydrocephalus syndrome: Further delineation of the phenotype caused by FANCB mutations (pages 2370–2380)

      Joanna McCauley, Navta Masand, Ruth McGowan, Sulekha Rajagopalan, Alasdair Hunter, Jacques L. Michaud, Kate Gibson, Jeremy Robertson, Fiona Vaz, Stephen Abbs and Simon T. Holden

      Article first published online: 9 SEP 2011 | DOI: 10.1002/ajmg.a.33913

    4. Pregnancy outcome in carriers of Robertsonian translocations (pages 2381–2385)

      Kathelijn Keymolen, Kim Van Berkel, Anniek Vorsselmans, Catherine Staessen and Inge Liebaers

      Article first published online: 9 SEP 2011 | DOI: 10.1002/ajmg.a.33941

    5. Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders (pages 2386–2396)

      Fady M. Mikhail, Edward J. Lose, Nathaniel H. Robin, Maria D. Descartes, Katherine D. Rutledge, S. Lane Rutledge, Bruce R. Korf and Andrew J. Carroll

      Article first published online: 16 AUG 2011 | DOI: 10.1002/ajmg.a.34177

    6. The male phenotype in osteopathia striata congenita with cranial sclerosis (pages 2397–2408)

      Sarah K. Holman, Phil Daniel, Zandra A. Jenkins, Rachel L. Herron, Tim Morgan, Ravi Savarirayan, C.W. Chow, Axel Bohring, Annette Mosel, Didier Lacombe, Bernhard Steiner, Thomas Schmitt-Mechelke, Barbara Schroter, Annick Raas-Rothschild, Sixto Garcia Miñaur, Mary Porteous, Michael Parker, Oliver Quarrell, Dagmar Tapon, Valérie Cormier-Daire, Sahar Mansour, Ruth Nash, Laurence A. Bindoff, Torunn Fiskerstrand and Stephen P. Robertson

      Article first published online: 16 AUG 2011 | DOI: 10.1002/ajmg.a.34178

    7. Kleefstra syndrome in three adult patients: Further delineation of the behavioral and neurological phenotype shows aspects of a neurodegenerative course (pages 2409–2415)

      Willem M.A. Verhoeven, Jos I.M. Egger, Karlijn Vermeulen, Bart P.C. van de Warrenburg and Tjitske Kleefstra

      Article first published online: 9 SEP 2011 | DOI: 10.1002/ajmg.a.34186

    8. Somatic mutations in NKX2–5, GATA4, and HAND1 are not a common cause of tetralogy of Fallot or hypoplastic left heart (pages 2416–2421)

      Giorgia Esposito, Tanya L. Butler, Gillian M. Blue, Andrew D. Cole, Gary F. Sholler, Edwin P. Kirk, Paul Grossfeld, Benjamin M. Perryman, Richard P. Harvey and David S. Winlaw

      Article first published online: 16 AUG 2011 | DOI: 10.1002/ajmg.a.34187

    9. Analysis of genomewide association signals for nonsyndromic cleft lip/palate in a Kenya African cohort (pages 2422–2425)

      R. Christopher Weatherley-White, Songtao Ben, Ying Jin, Sheri Riccardi, Thomas D. Arnold and Richard A. Spritz

      Article first published online: 16 AUG 2011 | DOI: 10.1002/ajmg.a.34191

    10. FGFR3 related skeletal dysplasias diagnosed prenatally by ultrasonography and molecular analysis: Presentation of 17 cases (pages 2426–2435)

      Angeliki Hatzaki, Stavros Sifakis, Despina Apostolopoulou, Dimitra Bouzarelou, Anastasia Konstantinidou, Dimitra Kappou, Apostolos Sideris, Emmanouil Tzortzis, Apostolos Athanassiadis, Lina Florentin, Perikles Theodoropoulos, Constantinos Makatsoris, Charalambos Karadimas and Voula Velissariou

      Article first published online: 9 SEP 2011 | DOI: 10.1002/ajmg.a.34189

    11. You have full text access to this OnlineOpen article
      Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability (pages 2446–2452)

      Maria Antonietta Mencarelli, Maria Tassini, Marzia Pollazzon, Antonio Vivi, Marco Calderisi, Michele Falco, Marco Fichera, Lucia Monti, Sabrina Buoni, Francesca Mari, Udo Engelke, Ron A. Wevers, Joussef Hayek and Alessandra Renieri

      Article first published online: 9 SEP 2011 | DOI: 10.1002/ajmg.a.34208

    12. Did the GJB2 35delG mutation originate in Iran? (pages 2453–2458)

      Vahideh Norouzi, Hiva Azizi, Zohreh Fattahi, Fatemehsadat Esteghamat, Niloofar Bazazzadegan, Carla Nishimura, Nooshin Nikzat, Khadijeh Jalalvand, Kimia Kahrizi, Richard. J. H. Smith and Hossein Najmabadi

      Article first published online: 9 SEP 2011 | DOI: 10.1002/ajmg.a.34225

    13. Visual processing in Noonan syndrome: Dorsal and ventral stream sensitivity (pages 2459–2464)

      Paolo Alfieri, Laura Cesarini, Paola De Rose, Daniela Ricci, Angelo Selicorni, Deny Menghini, Andrea Guzzetta, Giovanni Baranello, Francesca Tinelli, Maria Mallardi, Giuseppe Zampino, Stefano Vicari, Janette Atkinson and Eugenio Mercuri

      Article first published online: 9 SEP 2011 | DOI: 10.1002/ajmg.a.34229

  5. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Book Reviews
    9. Correspondence
    1. Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibs (pages 2465–2468)

      Sheela Nampoothiri, Shwetha Kuthiroly, Christine Fauth, Birgit Krabichler, Tania Attie-Bitach and Raoul C. Hennekam

      Article first published online: 9 SEP 2011 | DOI: 10.1002/ajmg.a.34205

    2. MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous gene deletion syndrome (pages 2469–2472)

      Amnon Zung, Erwin Petek, Bruria Ben-Zeev, Thomas Schwarzbraun and Sagi Josefsberg Ben-Yehoshua

      Article first published online: 16 AUG 2011 | DOI: 10.1002/ajmg.a.33829

    3. Deletion 2p15–16.1 syndrome: Case report and review (pages 2473–2478)

      Paolo Prontera, Laura Bernardini, Gabriela Stangoni, Anna Capalbo, Daniela Rogaia, Rita Romani, Carmela Ardisia, Bruno Dallapiccola and Emilio Donti

      Article first published online: 9 SEP 2011 | DOI: 10.1002/ajmg.a.33875

    4. Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver–Russell syndrome (pages 2479–2483)

      Adriano Bonaldi, Juliana F. Mazzeu, Silvia S. Costa, Rachel S. Honjo, Débora R. Bertola, Lilian M.J. Albano, Isabel M. Furquim, Chong A. Kim and Angela M. Vianna-Morgante

      Article first published online: 9 SEP 2011 | DOI: 10.1002/ajmg.a.34023

    5. High-level 46XX/46XY chimerism without clinical effect in a healthy multiparous female (pages 2484–2488)

      Dr. Paul A James, Katherine Rose, David Francis and Fiona Norris

      Article first published online: 9 SEP 2011 | DOI: 10.1002/ajmg.a.34123

    6. Mosaic trisomy 17: Variable clinical and cytogenetic presentation (pages 2489–2495)

      Robert Daber, Kimberly A. Chapman, Eduardo Ruchelli, Stefanie Kasperski, Surabhi Mulchandani, Brian D. Thiel, Hakon Hakonarson, Elaine H. Zackai, Laura K. Conlin and Nancy B. Spinner

      Article first published online: 16 AUG 2011 | DOI: 10.1002/ajmg.a.34172

    7. De novo 5q35.5 duplication with clinical presentation of Sotos syndrome (pages 2501–2507)

      Jurate Kasnauskiene, Loreta Cimbalistiene, Zivile Ciuladaite, Egle Preiksaitiene, Zita Aušrelė Kučinskienė, Joe A. Hettinger, Carolina Sismani, Philippos C. Patsalis and Vaidutis Kučinskas

      Article first published online: 16 AUG 2011 | DOI: 10.1002/ajmg.a.34179

    8. Clinical and molecular characterization of chromosome 7p22.1 microduplication detected by array CGH (pages 2508–2511)

      Jacqueline V. Chui, James D. Weisfeld-Adams, James Tepperberg and Lakshmi Mehta

      Article first published online: 16 AUG 2011 | DOI: 10.1002/ajmg.a.34180

    9. Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene (pages 2516–2520)

      Karen W. Gripp, Elizabeth Hopkins, Jennifer J. Johnston, Caitlin Krause, William B. Dobyns and Leslie G. Biesecker

      Article first published online: 9 SEP 2011 | DOI: 10.1002/ajmg.a.34190

    10. Axial spondylometaphyseal dysplasia: Additional reports (pages 2521–2528)

      Shigeru Suzuki, Ok-Hwa Kim, Yoshio Makita, Tetsuya Saito, Gye-Yeon Lim, Tae-Joon Cho, Abdulrahman Al-Swaid, Shatha Alrasheed, Eiad Sadoon, Osamu Miyazaki, Sachiko Nishina, Andrea Superti-Furga, Sheila Unger, Kenji Fujieda, Shiro Ikegawa and Gen Nishimura

      Article first published online: 9 SEP 2011 | DOI: 10.1002/ajmg.a.34192

    11. Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His (pages 2529–2533)

      Yasushi Wakabayashi, Kyohei Yamazaki, Yoko Narumi, Satoshi Fuseya, Miki Horigome, Keiko Wakui, Yoshimitsu Fukushima, Yoichi Matsubara, Yoko Aoki and Tomoki Kosho

      Article first published online: 9 SEP 2011 | DOI: 10.1002/ajmg.a.34194

    12. Horseshoe kidney and a rare TSC2 variant in two unrelated individuals with tuberous sclerosis complex (pages 2534–2537)

      Anna-Kaisa Niemi, Hope Northrup, Louanne Hudgins and Jonathan A. Bernstein

      Article first published online: 9 SEP 2011 | DOI: 10.1002/ajmg.a.34197

    13. A de novo 2.1-Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic features (pages 2538–2542)

      Vazken M. Der Kaloustian, Laura Russell, Swaroop Aradhya, Gabriele Richard, Bernard Rosenblatt and Serge Melançon

      Article first published online: 16 AUG 2011 | DOI: 10.1002/ajmg.a.34198

    14. A previously undescribed de novo 4p15 deletion in a patient with apparently isolated metopic craniosynostosis (pages 2543–2551)

      Viola Alesi, Giuseppe Barrano, Sara Morara, Daria Darelli, Katia Petrilli, Anna Capalbo, Mario Pacella, Cristina Haass, Maurizio Finocchi, Antonio Novelli and Marta Bertoli

      Article first published online: 9 SEP 2011 | DOI: 10.1002/ajmg.a.34201

    15. Two sisters resembling Gorlin–Chaudhry–Moss syndrome (pages 2552–2555)

      Teresa Aravena, Cristóbal Passalacqua, Oscar Pizarro and Mariana Aracena

      Article first published online: 9 SEP 2011 | DOI: 10.1002/ajmg.a.34204

    16. Ramos-Arroyo syndrome: Confirmation of an entity (pages 2556–2559)

      Madeleine J. Tooley, Mike Cosgrove, David E. Laws and Daniela T. Pilz

      Article first published online: 9 SEP 2011 | DOI: 10.1002/ajmg.a.34209

    17. Partial agenesis of the corpus callosum, hippocampal atrophy, and stable intellectual disability associated with Roifman syndrome (pages 2560–2565)

      Helen R. Fairchild, Graeme Fairchild, Kevin M. Tierney, Deborah L. McCartney, Justin J. Cross and Petrus J. de Vries

      Article first published online: 9 SEP 2011 | DOI: 10.1002/ajmg.a.34215

    18. Madelung deformity in a girl with a novel and de novo mutation in the GNAS gene (pages 2566–2570)

      Patrick Rump, Jan D.H. Jongbloed, Birgit Sikkema-Raddatz, Stefan Mundlos, Eva Klopocki and Rob B. van der Luijt

      Article first published online: 9 SEP 2011 | DOI: 10.1002/ajmg.a.34218

    19. Eighteen-year follow-up of a patient with cobalamin F disease (cblF): Report and review (pages 2571–2577)

      Majid Alfadhel, Yolanda P. Lillquist, Cynthia Davis, Anne K. Junker and Sylvia Stockler-Ipsiroglu

      Article first published online: 9 SEP 2011 | DOI: 10.1002/ajmg.a.34220

    20. You have free access to this content
      Somatic mosaicism contributes to phenotypic variation in Timothy syndrome (pages 2578–2583)

      Susan P. Etheridge, Neil E. Bowles, Cammon B. Arrington, Thomas Pilcher, Alan Rope, Arthur A.M. Wilde, Marielle Alders, Elizabeth V. Saarel, Rene Tavernier, Katherine W. Timothy and Martin Tristani-Firouzi

      Article first published online: 9 SEP 2011 | DOI: 10.1002/ajmg.a.34223

    21. West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14 (pages 2584–2588)

      Jun Tohyama, Toshiyuki Yamamoto, Kana Hosoki, Keisuke Nagasaki, Noriyuki Akasaka, Tsukasa Ohashi, Yu Kobayashi and Shinji Saitoh

      Article first published online: 9 SEP 2011 | DOI: 10.1002/ajmg.a.34224

  6. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Book Reviews
    9. Correspondence
    1. Complex genomic rearrangement of chromosome 16p13.3 detected by array comparative genomic hybridization in a patient with multiple congenital anomalies, dysmorphic craniofacial features, and developmental delay (pages 2589–2592)

      Jun Gu, Sandesh C. Sreenath Nagamani, Vicki L. Hopwood, Beatriz Sanchez, Yasaman Saeidinejad, Zhishuo Ou, Sandra Peacock, Dorothy K. Grange, Pawel Stankiewicz and Sau Wai Cheung

      Article first published online: 9 SEP 2011 | DOI: 10.1002/ajmg.a.34185

    2. Pitfalls in the use of DGV for CNV interpretation (pages 2593–2596)

      Aude Duclos, Françoise Charbonnier, Pascal Chambon, Jean-Baptiste Latouche, André Blavier, Richard Redon, Thierry Frébourg and Jean-Michel Flaman

      Article first published online: 9 SEP 2011 | DOI: 10.1002/ajmg.a.34195

  7. Book Reviews

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Book Reviews
    9. Correspondence
    1. Book review (page 2605)

      Alessandra M.V. Duncan

      Article first published online: 16 AUG 2011 | DOI: 10.1002/ajmg.a.34174

  8. Correspondence

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Book Reviews
    9. Correspondence
    1. Fanconi–Bickel syndrome and fertility (page 2607)

      Christian von Schnakenburg and René Santer

      Article first published online: 9 SEP 2011 | DOI: 10.1002/ajmg.a.34202

SEARCH

SEARCH BY CITATION