American Journal of Medical Genetics Part A

Cover image for Vol. 155 Issue 1

January 2011

Volume 155, Issue 1

Pages C1–C1, fm i–fm ix, x–x, 1–268

  1. Cover Image

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

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

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. New Syndrome
    7. Research Articles
    8. Clinical Reports
    9. Correspondence
    10. Clinical Reports
    11. Research Letters
    12. Research Reviews
    13. Book Reviews
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      In this issue (page x)

      Article first published online: 22 FEB 2011 | DOI: 10.1002/ajmg.a.33866

  4. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. New Syndrome
    7. Research Articles
    8. Clinical Reports
    9. Correspondence
    10. Clinical Reports
    11. Research Letters
    12. Research Reviews
    13. Book Reviews
    1. Neocortical and hippocampal volume loss in a human ciliopathy: A quantitative MRI study in Bardet–Biedl syndrome (pages 1–8)

      Kate Baker, Gemma B. Northam, W.K. Chong, Tina Banks, Philip Beales and Torsten Baldeweg

      Article first published online: 17 NOV 2010 | DOI: 10.1002/ajmg.a.33773

  5. New Syndrome

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. New Syndrome
    7. Research Articles
    8. Clinical Reports
    9. Correspondence
    10. Clinical Reports
    11. Research Letters
    12. Research Reviews
    13. Book Reviews
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      Report of two brothers with short stature, microcephaly, mental retardation, and retinoschisis—A new mental retardation syndrome? (pages 9–13)

      Shubha R. Phadke, Sheetal Sharda, Jill Urquhart, Emma Jenkinson, Shobhit Chawala and Dorothy Trump

      Article first published online: 10 DEC 2010 | DOI: 10.1002/ajmg.a.33663

  6. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. New Syndrome
    7. Research Articles
    8. Clinical Reports
    9. Correspondence
    10. Clinical Reports
    11. Research Letters
    12. Research Reviews
    13. Book Reviews
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      Evaluation of 64 candidate single nucleotide polymorphisms as risk factors for neural tube defects in a large Irish study population (pages 14–21)

      Tonia C. Carter, Faith Pangilinan, James F. Troendle, Anne M. Molloy, Julia VanderMeer, Adam Mitchell, Peadar N. Kirke, Mary R. Conley, Barry Shane, John M. Scott, Lawrence C. Brody and James L. Mills

      Article first published online: 10 DEC 2010 | DOI: 10.1002/ajmg.a.33755

    2. Genotype–phenotype analysis of the branchio-oculo-facial syndrome (pages 22–32)

      Jeff M. Milunsky, Tom M. Maher, Geping Zhao, Zhenyuan Wang, John B. Mulliken, David Chitayat, Michele Clemens, Heather J. Stalker, Mislen Bauer, Michele Burch, Sébastien Chénier, Michael L. Cunningham, Arlene V. Drack, Sandra Janssens, Audrey Karlea, Regan Klatt, Usha Kini, Ophir Klein, Augusta M. Lachmeijer, Andre Megarbane, Nancy J. Mendelsohn, Wendy S. Meschino, Geert R. Mortier, Sandhya Parkash, C. Renai Ray, Angharad Roberts, Amy Roberts, Willie Reardon, Rhonda E. Schnur, Rosemarie Smith, Miranda Splitt, Kamer Tezcan, Margo L. Whiteford, Derek A. Wong, Roberto Zori and Angela E. Lin

      Article first published online: 28 DEC 2010 | DOI: 10.1002/ajmg.a.33783

    3. The incidence of thrombocytopenia in children with Cornelia de Lange syndrome (pages 33–37)

      Michele P. Lambert, Laird G. Jackson, Dinah Clark, Mani Kaur, Ian D. Krantz and Matthew A. Deardorff

      Article first published online: 10 DEC 2010 | DOI: 10.1002/ajmg.a.33631

    4. Comprehensive genetic analysis of OEIS complex reveals no evidence for a recurrent microdeletion or duplication (pages 38–49)

      Christopher N. Vlangos, Amanda Siuniak, Todd Ackley, Hans van Bokhoven, Joris Veltman, Ram Iyer, John M. Park, Kim Keppler-Noreuil and Catherine E. Keegan

      Article first published online: 28 DEC 2010 | DOI: 10.1002/ajmg.a.33757

    5. Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X-inactivation analysis and imaging evaluations (pages 50–57)

      Louise Lapagesse de Camargo Pinto, Sharbel Weidner Maluf, Sandra Leistner-Segal, Camila Zimmer da Silva, Ana Brusius-Facchin, Maira Graef Burin, Silvia Brustolin, Juan Llerena, Lucia Moraes, Leonardo Vedolin, Alice Schuch, Roberto Giugliani and Ida Vanessa Doederlein Schwartz

      Article first published online: 28 DEC 2010 | DOI: 10.1002/ajmg.a.33770

    6. Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece (pages 58–68)

      Bénédicte Héron, Yann Mikaeloff, Roseline Froissart, Guillaume Caridade, Irène Maire, Catherine Caillaud, Thierry Levade, Brigitte Chabrol, François Feillet, Hélène Ogier, Vassili Valayannopoulos, Helen Michelakakis, Dimitrios Zafeiriou, Lucy Lavery, Ed Wraith, Olivier Danos, Jean-Michel Heard and Marc Tardieu

      Article first published online: 28 DEC 2010 | DOI: 10.1002/ajmg.a.33779

    7. Angelman syndrome: Mutations influence features in early childhood (pages 81–90)

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

      Article first published online: 28 DEC 2010 | DOI: 10.1002/ajmg.a.33775

    8. IGF1R variants associated with isolated single suture craniosynostosis (pages 91–97)

      Michael L. Cunningham, Jeremy A. Horst, Mark J. Rieder, Anne V. Hing, Ian B. Stanaway, Sarah S. Park, Ram Samudrala and Matthew L. Speltz

      Article first published online: 28 DEC 2010 | DOI: 10.1002/ajmg.a.33781

    9. ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia (pages 98–105)

      Mireille Cossée, Laurence Faivre, Christophe Philippe, Heifa Hichri, Anne de Saint-Martin, Vincent Laugel, Nadia Bahi-Buisson, Jean-François Lemaitre, Bruno Leheup, Bruno Delobel, Bénédicte Demeer, Karine Poirier, Valérie Biancalana, Jean-Michel Pinoit, Sophie Julia, Jamel Chelly, Didier Devys and Jean-Louis Mandel

      Article first published online: 28 DEC 2010 | DOI: 10.1002/ajmg.a.33785

    10. Further molecular and clinical delineation of the Wisconsin syndrome phenotype associated with interstitial 3q24q25 deletions (pages 106–112)

      Marjolein H. Willemsen, Nicole de Leeuw, Catherine Mercer, Helen Eisenhauer, Joanne Morris, Morag N. Collinson, John C.K. Barber, Stephen T.S. Lam, Ivan F.M. Lo, Hanneke Rensen, Annemarie Ferwerda, Ben C.J. Hamel and Tjitske Kleefstra

      Article first published online: 15 DEC 2010 | DOI: 10.1002/ajmg.a.33715

    11. Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6 (pages 113–119)

      Toshiyuki Yamamoto, Keiko Shimojima, Tsutomu Nishizawa, Mari Matsuo, Masahiro Ito and Katsumi Imai

      Article first published online: 10 DEC 2010 | DOI: 10.1002/ajmg.a.33735

  7. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. New Syndrome
    7. Research Articles
    8. Clinical Reports
    9. Correspondence
    10. Clinical Reports
    11. Research Letters
    12. Research Reviews
    13. Book Reviews
    1. Monosomy 21q22.11-q22.13 presenting as a Fanconi anemia phenotype (pages 120–125)

      Robert S. Byrd, Theodore Zwerdling, Billur Moghaddam, Joseph D. Pinter and Mary Beth Steinfeld

      Article first published online: 28 DEC 2010 | DOI: 10.1002/ajmg.a.33801

  8. Correspondence

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. New Syndrome
    7. Research Articles
    8. Clinical Reports
    9. Correspondence
    10. Clinical Reports
    11. Research Letters
    12. Research Reviews
    13. Book Reviews
    1. De Novo 21q22.1q22.2 deletion including RUNX1 mimicking a congenital infection (pages 126–129)

      Julien Thevenon, Patrick Callier, Christel Thauvin-Robinet, Nathalie Mejean, Sylvie Falcon-Eicher, Marc Maynadie, Emmanuel de Maistre, Samuel Bidot, Frédéric Huet, Mylène Beri-Dexheimer, Philippe Jonveaux, Francine Mugneret and Laurence Faivre

      Article first published online: 28 DEC 2010 | DOI: 10.1002/ajmg.a.33809

  9. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. New Syndrome
    7. Research Articles
    8. Clinical Reports
    9. Correspondence
    10. Clinical Reports
    11. Research Letters
    12. Research Reviews
    13. Book Reviews
    1. Dandy–Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion: Report of a new patient (pages 130–133)

      Jun Tohyama, Mitsuhiro Kato, Sari Kawasaki, Naoki Harada, Hiroki Kawara, Takeshi Matsui, Noriyuki Akasaka, Tsukasa Ohashi, Yu Kobayashi and Naomichi Matsumoto

      Article first published online: 10 DEC 2010 | DOI: 10.1002/ajmg.a.33652

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    4. The Simpson–Golabi–Behmel syndrome: A clinical case and a detective story (pages 145–148)

      F. Gurrieri, M.G. Pomponi, R. Pietrobono, E. Lucci-Cordisco, E. Silvestri, G. Storniello and G. Neri

      Article first published online: 9 DEC 2010 | DOI: 10.1002/ajmg.a.33586

    5. Hoffman syndrome: New patients, new insights (pages 149–153)

      Boris Hügle, Hal Hoffman, Lynne M. Bird, Corinna Gebauer, Philipp Suchowerskyj, Ulrich Sack, Jürgen Kohlhase and Volker Schuster

      Article first published online: 10 DEC 2010 | DOI: 10.1002/ajmg.a.33678

    6. A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia (pages 154–163)

      Jirair K. Bedoyan, Marci M. Lesperance, Todd Ackley, Ramaswamy K. Iyer, Jeffrey W. Innis and Vinod K. Misra

      Article first published online: 10 DEC 2010 | DOI: 10.1002/ajmg.a.33751

    7. Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms (pages 164–167)

      Valerio Conti, Carla Marini, Davide Mei, Melania Falchi, Anna Rita Ferrari and Renzo Guerrini

      Article first published online: 10 DEC 2010 | DOI: 10.1002/ajmg.a.33753

    8. Genotype–phenotype correlations of pheochromocytoma in two large von Hippel–Lindau (VHL) type 2A kindreds with different missense mutations (pages 168–173)

      Sarah M. Nielsen, Wendy S. Rubinstein, Darcy L. Thull, Michaele J. Armstrong, Eleanor Feingold, Michael T. Stang, James R. Gnarra and Sally E. Carty

      Article first published online: 28 DEC 2010 | DOI: 10.1002/ajmg.a.33760

    9. A novel homozygous COL11A2 deletion causes a C-terminal protein truncation with incomplete mRNA decay in a Turkish patient (pages 180–185)

      Hülya Kayserili, Bernd Wollnik, Gamze Güven, Melike Ulubil Emiroğlu, Nermin Başerer and Z. Oya Uyguner

      Article first published online: 28 DEC 2010 | DOI: 10.1002/ajmg.a.33780

    10. Implications of prenatal diagnosis of the fetus with both interstitial deletion and a small marker ring originating from chromosome 5 (pages 192–196)

      Hiroyasu Ohashi, Kaoru Suzumori, Yasushi Chisaka, Shinichi Sonta, Tomoko Kobayashi, Yoko Aoki, Yoichi Matsubara, Michiko Sone and Lisa G. Shaffer

      Article first published online: 28 DEC 2010 | DOI: 10.1002/ajmg.a.33764

    11. Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis (pages 197–202)

      M.L. Martínez-Frías, X. Egüés, A. Puras, J. Hualde, C.A. de Frutos, E. Bermejo, M.A. Nieto and S. Martínez

      Article first published online: 28 DEC 2010 | DOI: 10.1002/ajmg.a.33765

    12. Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects (pages 203–206)

      Sultan Cingöz, Iben Bache, Lise Bjerglund, Hans-Hilger Ropers, Niels Tommerup, Hanne Jensen, Karen Brøndum-Nielsen and Zeynep Tümer

      Article first published online: 28 DEC 2010 | DOI: 10.1002/ajmg.a.33766

    13. Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype (pages 207–214)

      Ghada M. H. Abdel-Salam, Laura Flores-Sarnat, Mona O. El-Ruby, Jillian Parboosingh, Peter Bridge, Maha M. Eid, Tarek H. El-Badry, Laila Effat, Paolo Curatolo and Samia A. Temtamy

      Article first published online: 28 DEC 2010 | DOI: 10.1002/ajmg.a.33777

  10. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. New Syndrome
    7. Research Articles
    8. Clinical Reports
    9. Correspondence
    10. Clinical Reports
    11. Research Letters
    12. Research Reviews
    13. Book Reviews
    1. FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3–q28 in a male and his mother (pages 221–224)

      Simona Cavani, Paolo Prontera, Marina Grasso, Carmela Ardisia, Michela Malacarne, Cristina Gradassi, Massimiliano Cecconi, Amedea Mencarelli, Emilio Donti and Mauro Pierluigi

      Article first published online: 10 DEC 2010 | DOI: 10.1002/ajmg.a.33515

    2. Trisomy 18 caused by isochromosome 18p and 18q formation: Is there a milder phenotype? (pages 225–227)

      Giuseppe Maria Maruotti, Floriana Fabbrini, Raffaele Napolitano, Rita Genesio, Anna Conti, Giovanna Mallia Milanes, Laura Letizia Mazzarelli and Pasquale Martinelli

      Article first published online: 10 DEC 2010 | DOI: 10.1002/ajmg.a.33639

    3. Phenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome (pages 228–232)

      Warissara Sripathomsawat, Pranoot Tanpaiboon, Jan Heering, Volker Dötsch, Raoul C.M. Hennekam and Piranit Kantaputra

      Article first published online: 28 DEC 2010 | DOI: 10.1002/ajmg.a.33768

    4. Lambdoid synostosis and craniofacial dysmorphism with normal intellect: A novel syndrome? (pages 233–234)

      Claudine Rieubland, Anthony D. Holmes, Melody Caramins, Tony Roscioli and David J. Amor

      Article first published online: 28 DEC 2010 | DOI: 10.1002/ajmg.a.33776

    5. Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus (pages 235–237)

      Jane C. Ravenscroft, Mohnish Suri, Gillian I. Rice, Marcin Szynkiewicz and Yanick J. Crow

      Article first published online: 28 DEC 2010 | DOI: 10.1002/ajmg.a.33778

  11. Research Reviews

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. New Syndrome
    7. Research Articles
    8. Clinical Reports
    9. Correspondence
    10. Clinical Reports
    11. Research Letters
    12. Research Reviews
    13. Book Reviews
    1. Genetic diseases in the Tunisian population (pages 238–267)

      Lilia Romdhane, Sonia Abdelhak, for the Research Unit on Molecular Investigation of Genetic Orphan Diseases and and Collaborators

      Article first published online: 28 DEC 2010 | DOI: 10.1002/ajmg.a.33771

  12. Book Reviews

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

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