American Journal of Medical Genetics Part A

Cover image for Vol. 161 Issue 10

October 2013

Volume 161, Issue 10

Pages C1–C1, fm i–fm vi, vii–x, 2401–2685

  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. Invited Comment
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Book Reviews
    12. Correspondence
    13. Erratum
    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. New Syndrome
    6. Research Articles
    7. Invited Comment
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Book Reviews
    12. Correspondence
    13. Erratum
    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. Invited Comment
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Book Reviews
    12. Correspondence
    13. Erratum
    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. New Syndrome

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Invited Comment
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Book Reviews
    12. Correspondence
    13. Erratum
    1. Intellectual disability, unusual facial morphology and hand anomalies in sibs (pages 2401–2406)

      Sérgio B. Sousa, Margarida Venâncio, Estelle Chanudet, Rodger Palmer, Lina Ramos, Philip L. Beales, Gudrun E. Moore, Jorge M. Saraiva and Raoul C. Hennekam

      Version of Record online: 15 AUG 2013 | DOI: 10.1002/ajmg.a.36124

  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. Invited Comment
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Book Reviews
    12. Correspondence
    13. Erratum
    1. Brain magnetic resonance imaging findings in smith–lemli–opitz syndrome (pages 2407–2419)

      Ryan W.Y. Lee, Sandra K. Conley, Andrea Gropman, Forbes D. Porter and Eva H. Baker

      Version of Record online: 5 AUG 2013 | DOI: 10.1002/ajmg.a.36096

    2. Expanding the SHOC2 mutation associated phenotype of noonan syndrome with loose anagen hair: Structural brain anomalies and myelofibrosis (pages 2420–2430)

      Karen W. Gripp, Dina J. Zand, Laurie Demmer, Carol E. Anderson, William B. Dobyns, Elaine H. Zackai, Elizabeth Denenberg, Kim Jenny, Deborah L. Stabley and Katia Sol-Church

      Version of Record online: 5 AUG 2013 | DOI: 10.1002/ajmg.a.36098

    3. Timing of diagnosis of patients with pompe disease: Data from the pompe registry (pages 2431–2443)

      Priya S. Kishnani, Hernán M. Amartino, Christopher Lindberg, Timothy M. Miller, Amanda Wilson, Joan Keutzer and on behalf of the Pompe Registry Boards of Advisors

      Version of Record online: 30 AUG 2013 | DOI: 10.1002/ajmg.a.36110

    4. Risk and protective factors in the origin of conotruncal defects of heart—a population-based case–control study (pages 2444–2452)

      Melinda Csáky-Szunyogh, Attila Vereczkey, Zsolt Kósa, Balázs Gerencsér and Andrew E. Czeizel

      Version of Record online: 15 AUG 2013 | DOI: 10.1002/ajmg.a.36118

    5. Growth hormone, gender and face shape in prader–willi syndrome (pages 2453–2463)

      Mauren Abreu de Souza, Catherine McAllister, Michael Suttie, Concetta Perrotta, Teresa Mattina, Francesca Faravelli, Francesca Forzano, Anthony Holland and Peter Hammond

      Version of Record online: 5 AUG 2013 | DOI: 10.1002/ajmg.a.36100

  6. Invited Comment

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

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Invited Comment
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Book Reviews
    12. Correspondence
    13. Erratum
    1. Prevalence of beckwith–wiedemann syndrome in North West of Italy (pages 2481–2486)

      Alessandro Mussa, Silvia Russo, Agostina De Crescenzo, Nicoletta Chiesa, Cristina Molinatto, Angelo Selicorni, Lorenzo Richiardi, Lidia Larizza, Margherita Cirillo Silengo, Andrea Riccio and Giovanni Battista Ferrero

      Version of Record online: 5 AUG 2013 | DOI: 10.1002/ajmg.a.36080

    2. Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure (pages 2487–2494)

      Steven M. Harrison, Ian M. Campbell, Melise Keays, Candace F. Granberg, Carlos Villanueva, Grace Tannin, Andrew R. Zinn, Diego H. Castrillon, Chad A. Shaw, Pawel Stankiewicz and Linda A. Baker

      Version of Record online: 5 AUG 2013 | DOI: 10.1002/ajmg.a.36084

    3. Germline mosaicism does not explain the maternal age effect on trisomy (pages 2495–2503)

      Ross Rowsey, Anna Kashevarova, Brenda Murdoch, Carrie Dickenson, Tracey Woodruff, Edith Cheng, Patricia Hunt and Terry Hassold

      Version of Record online: 15 AUG 2013 | DOI: 10.1002/ajmg.a.36120

    4. A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome (pages 2528–2534)

      Masaki Matsushita, Hiroshi Kitoh, Hiroshi Kaneko, Kenichi Mishima, Izumi Kadono, Naoki Ishiguro and Gen Nishimura

      Version of Record online: 16 AUG 2013 | DOI: 10.1002/ajmg.a.36134

    5. Search for genetic modifiers of IRF6 and genotype–phenotype correlations in Van der Woude and popliteal pterygium syndromes (pages 2535–2544)

      Elizabeth J. Leslie, Jennifer L. Mancuso, Brian C. Schutte, Margaret E. Cooper, Kate M. Durda, Jamie L'Heureux, Theresa M. Zucchero, Mary L. Marazita and Jeffrey C. Murray

      Version of Record online: 15 AUG 2013 | DOI: 10.1002/ajmg.a.36133

    6. Analysis of susceptibility loci for nonsyndromic orofacial clefting in a European trio sample (pages 2545–2549)

      Anne C. Böhmer, Elisabeth Mangold, Peter Tessmann, Peter A. Mossey, Regine P. Steegers-Theunissen, Jan Lindemans, Marieke Bouwman-Both, Michele Rubini, Paola Franceschelli, Vincenzo Aiello, Borut Peterlin, Anne M. Molloy, Markus M. Nöthen, Michael Knapp and Kerstin U. Ludwig

      Version of Record online: 16 AUG 2013 | DOI: 10.1002/ajmg.a.36141

  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. Invited Comment
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Book Reviews
    12. Correspondence
    13. Erratum
    1. Macrophage involvement in mitral valve pathology in mucopolysaccharidosis type VI (Maroteaux–lamy syndrome) (pages 2550–2553)

      Marion Brands, Jorine Roelants, Ronald de Krijger, Ad Bogers, Arnold Reuser, Ans van der Ploeg and Wim Helbing

      Version of Record online: 15 AUG 2013 | DOI: 10.1002/ajmg.a.36105

    2. The phenotype range of achondrogenesis 1A (pages 2554–2558)

      Giedre Grigelioniene, Stefan Geiberger, Nikos Papadogiannakis, Outi Mäkitie, Gen Nishimura, Ann Nordgren and Peter Conner

      Version of Record online: 16 AUG 2013 | DOI: 10.1002/ajmg.a.36106

    3. Structural chromosomal abnormalities detected during CVS analysis and their role in the prenatal ascertainment of cryptic subtelomeric rearrangements (pages 2559–2563)

      Maria Carla Pittalis, Angela Mattarozzi, Cristina Menozzi, Michela Malacarne, Ilaria Baccolini, Antonio Farina, Eva Pompilii, Pamela Magini and Antonio Percesepe

      Version of Record online: 6 AUG 2013 | DOI: 10.1002/ajmg.a.36035

    4. Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability (pages 2564–2569)

      Sarra Dimassi, Joris Andrieux, Audrey Labalme, Gaétan Lesca, Marie-Pierre Cordier, Odile Boute, Dorothée Neut, Patrick Edery, Damien Sanlaville and Caroline Schluth-Bolard

      Version of Record online: 5 AUG 2013 | DOI: 10.1002/ajmg.a.36079

    5. Three patients resembling Teebi–Shaltout syndrome (pages 2570–2575)

      Ozgur Aldemir, Samim Ozen, Sevcan Erdem, Aslihan Kiraz, Nurten Akarsu and Yasemin Alanay

      Version of Record online: 5 AUG 2013 | DOI: 10.1002/ajmg.a.36082

    6. Co-occurrence of 22q11 deletion syndrome and hdr syndrome (pages 2576–2581)

      Ryoko Fukai, Nobuhiko Ochi, Akira Murakami, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Saitsu, Naomichi Matsumoto and Noriko Miyake

      Version of Record online: 5 AUG 2013 | DOI: 10.1002/ajmg.a.36083

    7. De novo 15q13.3 microdeletion with cryptogenic west syndrome (pages 2582–2587)

      Elodie Lacaze, Nicolas Gruchy, Marie-José Penniello-Valette, Ghislaine Plessis, Nicolas Richard, Mathieu Decamp, Hervé Mittre, Nathalie Leporrier, Joris Andrieux, Marie-Laure Kottler and Marion Gerard

      Version of Record online: 8 AUG 2013 | DOI: 10.1002/ajmg.a.36085

    8. De novo complex X chromosome rearrangement unmasking maternally inherited CSF2RA deletion in a girl with pulmonary alveolar proteinosis (pages 2594–2599)

      Julie Auger, Céline Bonnet, Mylène Valduga, Christophe Philippe, Emmanuelle Bertolo-Houriez, Mylène Beri-Dexheimer, Cyril Schweitzer, Bruno Leheup and Philippe Jonveaux

      Version of Record online: 5 AUG 2013 | DOI: 10.1002/ajmg.a.36097

    9. A transient myelodysplastic/myeloproliferative neoplasm in a patient with cardio-facio-cutaneous syndrome and a germline BRAF mutation (pages 2600–2603)

      Kazuhito Sekiguchi, Tomoki Maeda, So-ichi Suenobu, Nobutaka Kunisaki, Miki Shimizu, Kyoko Kiyota, Yo-suke Handa, Kensuke Akiyoshi, Seigo Korematsu, Yoko Aoki, Yoichi Matsubara and Tatsuro Izumi

      Version of Record online: 15 AUG 2013 | DOI: 10.1002/ajmg.a.36107

    10. 5q31.3 Microdeletion syndrome: Clinical and molecular characterization of two further cases (pages 2604–2608)

      Natasha Brown, Trent Burgess, Robin Forbes, George McGillivray, Andrew Kornberg, Simone Mandelstam and Zornitza Stark

      Version of Record online: 15 AUG 2013 | DOI: 10.1002/ajmg.a.36108

    11. Bone marrow transplantation in Schimke immuno-osseous dysplasia (pages 2609–2613)

      Alireza Baradaran-Heravi, Jonas Lange, Yumi Asakura, Pierre Cochat, Laura Massella and Cornelius F. Boerkoel

      Version of Record online: 15 AUG 2013 | DOI: 10.1002/ajmg.a.36111

    12. Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R (pages 2614–2619)

      Gianfranco Savoldi, Claudia Izzi, Marino Signorelli, Maria Pia Bondioni, Chiara Romani, Gaetana Lanzi, Daniele Moratto, Lucio Verdoni, Moira Pinotti, Federico Prefumo, Andrea Superti-Furga and Alba Pilotta

      Version of Record online: 15 AUG 2013 | DOI: 10.1002/ajmg.a.36115

    13. Boston type craniosynostosis: Report of a second mutation in MSX2 (pages 2626–2633)

      Joyce M.G. Florisson, Annemieke J.M.H. Verkerk, Daphne Huigh, A. Jeannette M. Hoogeboom, Sigrid Swagemakers, Andreas Kremer, Daphne Heijsman, Maarten H. Lequin, Irene M.J. Mathijssen and Peter J. van der Spek

      Version of Record online: 15 AUG 2013 | DOI: 10.1002/ajmg.a.36126

    14. A 3p interstitial deletion in two monozygotic twin brothers and an 18-year-old man: Further characterization and review (pages 2634–2640)

      Eva Maria Christina Schwaibold, Barbara Zoll, Peter Burfeind, Elke Hobbiebrunken, Bernd Wilken, Rudolf Funke and Moneef Shoukier

      Version of Record online: 15 AUG 2013 | DOI: 10.1002/ajmg.a.36129

    15. Achondroplasia with multiple-suture craniosynostosis: A report of a new case of this rare association (pages 2641–2644)

      Beáta Bessenyei, Andrea Nagy, Erzsébet Balogh, László Novák, László Bognár, Alida C. Knegt and Éva Oláh

      Version of Record online: 15 AUG 2013 | DOI: 10.1002/ajmg.a.36130

    16. A new form of severe spondyloepimetaphyseal dysplasia: Clinical and radiological characterization (pages 2645–2651)

      Bertrand Isidor, Loïc Geffroy, Benoît de Courtivron, Cédric Le Caignec, Christian T. Thiel, Geert Mortier, Valérie Cormier-Daire, Albert David and Annick Toutain

      Version of Record online: 16 AUG 2013 | DOI: 10.1002/ajmg.a.36132

    17. You have full text access to this OnlineOpen article
      Silver–Russell syndrome due to paternal H19/IGF2 hypomethylation in a twin girl born after in vitro fertilization (pages 2652–2655)

      Guido Cocchi, Concetta Marsico, Anita Cosentino, Chiara Spadoni, Alessandro Rocca, Agostina De Crescenzo and Andrea Riccio

      Version of Record online: 16 AUG 2013 | DOI: 10.1002/ajmg.a.36145

    18. Bilaterally cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient with two De novo deletions of HSA 4q32 and 4q34 involving PDGFC, GRIA2, and FBXO8 genes (pages 2656–2662)

      Alessandro Calcia, Giorgia Gai, Eleonora Di Gregorio, Flavia Talarico, Valeria G. Naretto, Nicola Migone, Ernesto Pepe, Enrico Grosso and Alfredo Brusco

      Version of Record online: 16 AUG 2013 | DOI: 10.1002/ajmg.a.36146

  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. Invited Comment
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Book Reviews
    12. Correspondence
    13. Erratum
    1. COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial stickler syndrome (pages 2663–2665)

      Céline Dupont, Clarisse Baumann, Nathalie Le Du, Elise Schaefer, Fabien Guimiot, Lucile Boutaud, Yline Capri, Emmanuel Spaggiari, Azzedine Aboura, Brigitte Benzacken and Anne-Claude Tabet

      Version of Record online: 5 AUG 2013 | DOI: 10.1002/ajmg.a.36081

    2. An unexpected aortic valve in trisomy 21 (pages 2670–2671)

      Cem Karadeniz, Rahmi Ozdemir, Yılmaz Yozgat and Timur Mese

      Version of Record online: 15 AUG 2013 | DOI: 10.1002/ajmg.a.36121

  10. Book Reviews

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

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Invited Comment
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Book Reviews
    12. Correspondence
    13. Erratum
    1. Collagenopathy with a phenotype resembling silver–russell syndrome phenotype (pages 2681–2684)

      Paola Cianci, Giuseppe Paterlini, Paolo Tagliabue, Maria Verderio, Patrizia Vergani, Maria Luisa Bianchi, Carlo Giussani, Gaia Kullmann, Fabio Mazzoleni, Alberto Bozzetti and Angelo Selicorni

      Version of Record online: 5 AUG 2013 | DOI: 10.1002/ajmg.a.36093

  12. Erratum

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Invited Comment
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Book Reviews
    12. Correspondence
    13. Erratum
    1. You have free access to this content
      “Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome” Am J Med Genet. 161:518–526, 2013 (page 2685)

      Yoko Narumi, Byung-Joo Min, Kenji Shimizu, Itsuro Kazukawa, Kiyoko Sameshima, Koichi Nakamura, Tomoki Kosho, Yumie Rhee, Yoon-Sok Chung, Ok-Hwa Kim, Yoshimitsu Fukushima, Woong-Yang Park and Gen Nishimura

      Version of Record online: 17 SEP 2013 | DOI: 10.1002/ajmg.a.36113

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