American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

May 2009

Volume 149A, Issue 5

Pages C1–C1, fm i–fm x, 835–1103

  1. Cover Image

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Commentary
    6. New Syndrome
    7. Research Articles
    8. Research Letters
    9. Research Articles
    10. Clinical Reports
    11. Research Letters
    12. Research Reviews
    13. Book Reviews
    14. 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. Commentary
    6. New Syndrome
    7. Research Articles
    8. Research Letters
    9. Research Articles
    10. Clinical Reports
    11. Research Letters
    12. Research Reviews
    13. Book Reviews
    14. 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. Commentary
    6. New Syndrome
    7. Research Articles
    8. Research Letters
    9. Research Articles
    10. Clinical Reports
    11. Research Letters
    12. Research Reviews
    13. Book Reviews
    14. Correspondence
    1. You have free access to this content
  4. Commentary

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Commentary
    6. New Syndrome
    7. Research Articles
    8. Research Letters
    9. Research Articles
    10. Clinical Reports
    11. Research Letters
    12. Research Reviews
    13. Book Reviews
    14. Correspondence
    1. You have free access to this content
  5. New Syndrome

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Commentary
    6. New Syndrome
    7. Research Articles
    8. Research Letters
    9. Research Articles
    10. Clinical Reports
    11. Research Letters
    12. Research Reviews
    13. Book Reviews
    14. Correspondence
    1. You have free access to this content
      Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: A mandibulofacial dysostosis distinct from Treacher Collins syndrome (pages 837–843)

      Dagmar Wieczorek, Blanca Gener, Ma Jesús Martínez González, Saskia Seland, Sven Fischer, Ute Hehr, Alma Kuechler, Lies H. Hoefsloot, Nicole de Leeuw, Gabriele Gillessen-Kaesbach and Dietmar R. Lohmann

      Version of Record online: 30 MAR 2009 | DOI: 10.1002/ajmg.a.32747

  6. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Commentary
    6. New Syndrome
    7. Research Articles
    8. Research Letters
    9. Research Articles
    10. Clinical Reports
    11. Research Letters
    12. Research Reviews
    13. Book Reviews
    14. Correspondence
    1. Etiology of nonimmune hydrops fetalis: A systematic review (pages 844–851)

      Carlo Bellini, Raoul C.M. Hennekam, Ezio Fulcheri, Mariangela Rutigliani, Guido Morcaldi, Francesco Boccardo and Eugenio Bonioli

      Version of Record online: 30 MAR 2009 | DOI: 10.1002/ajmg.a.32655

  7. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Commentary
    6. New Syndrome
    7. Research Articles
    8. Research Letters
    9. Research Articles
    10. Clinical Reports
    11. Research Letters
    12. Research Reviews
    13. Book Reviews
    14. Correspondence
    1. A diagnostic flow chart for non-immune hydrops fetalis (pages 852–853)

      Carlo Bellini, Raoul C.M. Hennekam and Eugenio Bonioli

      Version of Record online: 30 MAR 2009 | DOI: 10.1002/ajmg.a.32677

  8. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Commentary
    6. New Syndrome
    7. Research Articles
    8. Research Letters
    9. Research Articles
    10. Clinical Reports
    11. Research Letters
    12. Research Reviews
    13. Book Reviews
    14. Correspondence
    1. Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion (pages 854–860)

      L. Faivre, G. Collod-Beroud, B. Callewaert, A. Child, B.L. Loeys, C. Binquet, E. Gautier, E. Arbustini, K. Mayer, M. Arslan-Kirchner, A. Kiotsekoglou, P. Comeglio, M. Grasso, C. Beroud, C. Bonithon-Kopp, M. Claustres, C. Stheneur, O. Bouchot, J.E. Wolf, P.N. Robinson, L. Adès, J. De Backer, P. Coucke, U. Francke, A. De Paepe, C. Boileau and G. Jondeau

      Version of Record online: 7 APR 2009 | DOI: 10.1002/ajmg.a.32809

    2. Finding twinkle in the eyes of a 71-year-old lady: A case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease (pages 861–867)

      Johan L.K. Van Hove, Vicki Cunningham, Cathlin Rice, Steven P. Ringel, Qing Zhang, Ping-Chieh Chou, Cavatina K. Truong and Lee-Jun C. Wong

      Version of Record online: 7 APR 2009 | DOI: 10.1002/ajmg.a.32731

    3. Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes (pages 868–876)

      Karen W. Gripp, Elizabeth Hopkins, Chana Vinkler, Dorit Lev, Gustavo Malinger, Tally Lerman-Sagie and William B. Dobyns

      Version of Record online: 7 APR 2009 | DOI: 10.1002/ajmg.a.32732

    4. Phenotype and 244k array-CGH characterization of chromosome 13q deletions: An update of the phenotypic map of 13q21.1-qter (pages 894–905)

      Maria Kirchhoff, Anne-Marie Bisgaard, Radka Stoeva, Boyan Dimitrov, Gabriele Gillessen-Kaesbach, Jean-Pierre Fryns, Hanne Rose, Liliana Grozdanova, Ivan Ivanov, Kathelijn Keymolen, Christina Fagerberg, Lisbeth Tranebjaerg, Flemming Skovby and Margarita Stefanova

      Version of Record online: 10 APR 2009 | DOI: 10.1002/ajmg.a.32814

    5. Pure monosomy and pure trisomy of 13q21.2–31.1 consequent to a familial insertional translocation: Exclusion of PCDH9 as the responsible gene for autosomal dominant auditory neuropathy (AUNA1) (pages 906–913)

      Francesca R. Grati, Marci M. Lesperance, Simona De Toffol, Sara Chinetti, Angelo Selicorni, Sarah Emery, Beatrice Grimi, Francesca Dulcetti, Barbara Malvestiti, Joseph Taylor, Silvia Milani, Anna M. Ruggeri, Federico Maggi and Giuseppe Simoni

      Version of Record online: 7 APR 2009 | DOI: 10.1002/ajmg.a.32754

    6. aCGH detects partial tetrasomy of 12p in blood from Pallister–Killian syndrome cases without invasive skin biopsy (pages 914–918)

      Aaron Theisen, Jill A. Rosenfeld, Sandra A. Farrell, Catharine J. Harris, Heather H. Wetzel, Beth A. Torchia, Bassem A. Bejjani, Blake C. Ballif and Lisa G. Shaffer

      Version of Record online: 7 APR 2009 | DOI: 10.1002/ajmg.a.32767

    7. A novel SIX3 mutation segregates with holoprosencephaly in a large family (pages 919–925)

      Benjamin D. Solomon, Felicitas Lacbawan, Mahim Jain, Sabina Domené, Erich Roessler, Cynthia Moore, William B. Dobyns and Maximilian Muenke

      Version of Record online: 7 APR 2009 | DOI: 10.1002/ajmg.a.32813

    8. Compound heterozygous ASPM mutations in Pakistani MCPH families (pages 926–930)

      Farooq Muhammad, Shahid Mahmood Baig, Lars Hansen, Muhammad Sajid Hussain, Iram Anjum Inayat, Muhammad Aslam, Javed Anver Qureshi, Muhammad Toilat, Elisabeth Kirst, Muhammad Wajid, Peter Nürnberg, Hans Eiberg, Niels Tommerup and Klaus W. Kjaer

      Version of Record online: 7 APR 2009 | DOI: 10.1002/ajmg.a.32749

    9. NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness (pages 931–938)

      Kerry K. Brown, Fowzan S. Alkuraya, Michael Matos, Richard L. Robertson, Virginia E. Kimonis and Cynthia C. Morton

      Version of Record online: 7 APR 2009 | DOI: 10.1002/ajmg.a.32764

    10. Aortic root dilation in patients with 22q11.2 deletion syndrome (pages 939–942)

      Anitha S. John, Donna M. McDonald-McGinn, Elaine H. Zackai and Elizabeth Goldmuntz

      Version of Record online: 7 APR 2009 | DOI: 10.1002/ajmg.a.32770

    11. Morphological abnormalities in children with thyroidal congenital hypothyroidism (pages 943–951)

      Marlies J.E. Kempers, Heval M. Ozgen, Thomas Vulsma, Johannes H. Merks, Koos H. Zwinderman, Jan J.M. de Vijlder and Raoul C.M. Hennekam

      Version of Record online: 14 APR 2009 | DOI: 10.1002/ajmg.a.32777

    12. FARP2, HDLBP and PASK are downregulated in a patient with autism and 2q37.3 deletion syndrome (pages 952–959)

      Bärbel Felder, Bernhard Radlwimmer, Axel Benner, Antoaneta Mincheva, Grischa Tödt, Kim S. Beyer, Claudia Schuster, Sven Bölte, Gabriele Schmötzer, Sabine M. Klauck, Fritz Poustka, Peter Lichter and Annemarie Poustka

      Version of Record online: 13 APR 2009 | DOI: 10.1002/ajmg.a.32779

    13. Incidence of the mucopolysaccharidoses in Taiwan, 1984–2004 (pages 960–964)

      Hsiang-Yu Lin, Shuan-Pei Lin, Chih-Kuang Chuang, Dau-Ming Niu, Ming-Ren Chen, Fuu-Jen Tsai, Mei-Chyn Chao, Pao-Ching Chiu, Shio-Jean Lin, Li-Ping Tsai, Wuh-Liang Hwu and Ju-Li Lin

      Version of Record online: 24 APR 2009 | DOI: 10.1002/ajmg.a.32781

    14. You have full text access to this OnlineOpen article
      Mucopolysaccharidosis type I in 21 Czech and Slovak patients: Mutation analysis suggests a functional importance of C-terminus of the IDUA protein (pages 965–974)

      Alzbeta Vazna, Clare Beesley, Linda Berna, Larisa Stolnaja, Helena Myskova, Michaela Bouckova, Hana Vlaskova, Helena Poupetova, Jiri Zeman, Martin Magner, Anna Hlavata, Bryan Winchester, Martin Hrebicek and Lenka Dvorakova

      Version of Record online: 24 APR 2009 | DOI: 10.1002/ajmg.a.32812

  9. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Commentary
    6. New Syndrome
    7. Research Articles
    8. Research Letters
    9. Research Articles
    10. Clinical Reports
    11. Research Letters
    12. Research Reviews
    13. Book Reviews
    14. Correspondence
    1. Split hand-foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion—evidence for further heterogeneity? (pages 975–981)

      Emmelien Aten, Nicolette den Hollander, Claudia Ruivenkamp, Jeroen Knijnenburg, Hans van Bokhoven, Johan den Dunnen and Martijn Breuning

      Version of Record online: 7 APR 2009 | DOI: 10.1002/ajmg.a.32748

    2. Constitutional trisomy 8 and Behçet syndrome (pages 982–986)

      Kristin Becker, Oliver FitzGerald, Andrew J Green, Mary Keogan, Ruth Newbury-Ecob, Lynn Greenhalgh, Stephen Withers, Edward J. Hollox, Patricia M.R. Aldred and John A.L. Armour

      Version of Record online: 7 APR 2009 | DOI: 10.1002/ajmg.a.32756

    3. Hermansky–Pudlak syndrome in two African-American brothers (pages 987–992)

      Melissa A. Merideth, Lisa M. Vincent, Susan E. Sparks, Richard A. Hess, Irini Manoli, Kevin J. O'Brien, Ekaterina Tsilou, James G. White, Marjan Huizing and William A. Gahl

      Version of Record online: 30 MAR 2009 | DOI: 10.1002/ajmg.a.32757

    4. Tetrasomy 13q mosaicism associated with phylloid hypomelanosis and precocious puberty (pages 993–996)

      Shweta U. Dhar, Patricia Robbins-Furman, Moise L. Levy, Ankita Patel and Fernando Scaglia

      Version of Record online: 30 MAR 2009 | DOI: 10.1002/ajmg.a.32758

    5. Further case of Rubinstein–Taybi syndrome due to a deletion in EP300 (pages 997–1000)

      Patricia Foley, David Bunyan, John Stratton, Michelle Dillon and Sally Ann Lynch

      Version of Record online: 7 APR 2009 | DOI: 10.1002/ajmg.a.32771

    6. Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome (pages 1019–1023)

      Carol J. Saunders, Berge E. Minassian, Eva W.C. Chow, Weiwei Zhao and John B. Vincent

      Version of Record online: 13 APR 2009 | DOI: 10.1002/ajmg.a.32776

    7. Bilateral lambdoid and sagittal synostosis (BLSS): A unique craniosynostosis syndrome or predictable craniofacial phenotype? (pages 1024–1032)

      Anne V. Hing, Eleanor S. Click, Ursula Holder, Marianne L. Seto, Kyle Vessey, Joseph Gruss, Richard Hopper and Michael L. Cunningham

      Version of Record online: 24 APR 2009 | DOI: 10.1002/ajmg.a.32782

    8. Late-onset Lennox–Gastaut syndrome in a patient with 15q11.2–q13.1 duplication (pages 1033–1035)

      Alfredo Orrico, Marcella Zollino, Lucia Galli, Sabrina Buoni, Giuseppe Marangi and Vincenzo Sorrentino

      Version of Record online: 24 APR 2009 | DOI: 10.1002/ajmg.a.32785

    9. Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations (pages 1036–1040)

      Christian P. Kratz, Giuseppe Zampino, Marjolein Kriek, Sarina G. Kant, Chiara Leoni, Francesca Pantaleoni, Anne Marie Oudesluys-Murphy, Concezio Di Rocco, Stephan P. Kloska, Marco Tartaglia and Martin Zenker

      Version of Record online: 24 APR 2009 | DOI: 10.1002/ajmg.a.32786

    10. Possible new syndrome: Left ventricular noncompaction, partial agenesis of the corpus callosum, and developmental delay in a Brazilian child (pages 1041–1045)

      Dionisia A.C. Lamonica, Dagma V.M. Abramides, Luciana P. Maximino, Mariana G. Gejão, Greyce K. da Silva, Amanda T. Ferreira, Renata H. Furlan, Célia M. Giacheti, Plínio A. Barros-Neto and A. Richieri-Costa

      Version of Record online: 24 APR 2009 | DOI: 10.1002/ajmg.a.32787

    11. A CDKL5 mutated child with precocious puberty (pages 1046–1051)

      Veronica Saletti, Laura Canafoglia, Paola Cambiaso, Silvia Russo, Margherita Marchi and Daria Riva

      Version of Record online: 24 APR 2009 | DOI: 10.1002/ajmg.a.32806

    12. Homozygous female Becker muscular dystrophy (pages 1052–1055)

      Katsunori Fujii, Narihiro Minami, Yukiko Hayashi, Ichizo Nishino, Ikuya Nonaka, Yuzo Tanabe, Jun-ichi Takanashi and Yoichi Kohno

      Version of Record online: 24 APR 2009 | DOI: 10.1002/ajmg.a.32808

  10. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Commentary
    6. New Syndrome
    7. Research Articles
    8. Research Letters
    9. Research Articles
    10. Clinical Reports
    11. Research Letters
    12. Research Reviews
    13. Book Reviews
    14. Correspondence
    1. Dicentric inverted duplication of entire 4p arm with no apparent deletion and internal placing of the (-TTAGGG-)n sequence: Description of the first patient (pages 1058–1061)

      L. Rodríguez, M.L. Martínez-Fernández, M.I. Aceña, S. López Mendoza, L. Martín Fumero, M. Rodríguez de Alba, J. Gallego-Merlo and M.L. Martínez-Frías

      Version of Record online: 7 APR 2009 | DOI: 10.1002/ajmg.a.32759

    2. A duplication including GATA4 does not co-segregate with congenital heart defects (pages 1062–1066)

      Irene C. Joziasse, Jasper J. van der Smagt, Martin Poot, Ron Hochstenbach, Marcel R. Nelen, Marielle van Gijn, Dennis Dooijes, Barbara J.M. Mulder and Pieter A. Doevendans

      Version of Record online: 7 APR 2009 | DOI: 10.1002/ajmg.a.32769

    3. Array analysis and molecular studies of INI1 in an infant with deletion 22q13 (Phelan–McDermid syndrome) and atypical teratoid/rhabdoid tumor (pages 1067–1069)

      Shyam Sathyamoorthi, Jaime Morales, Jose Bermudez, Lori McBride, Mark Luquette, Robin McGoey, Nora Oates, Stephen Hales, Jaclyn A. Biegel and Yves Lacassie

      Version of Record online: 30 MAR 2009 | DOI: 10.1002/ajmg.a.32775

    4. Further clinical delineation of Fine–Lubinsky syndrome (pages 1070–1075)

      J. Román Corona-Rivera, Eloy López-Marure, Diana García-Cruz, Carmen O. Romo-Huerta, Alejandro Rea-Rosas, L. Gustavo Orozco-Alatorre and J. Manuel Ramírez-Valdivia

      Version of Record online: 24 APR 2009 | DOI: 10.1002/ajmg.a.32780

    5. Arena syndrome is caused by a missense mutation in PLP1 (page 1081)

      Roger E. Stevenson, Patrick Tarpey, Melanie M. May, Michael R. Stratton and Charles E. Schwartz

      Version of Record online: 24 APR 2009 | DOI: 10.1002/ajmg.a.32795

    6. A novel Alu-mediated Xq28 microdeletion ablates TAZ and partially deletes DNL1L in a patient with Barth syndrome (pages 1082–1085)

      Harinder R. Singh, Zhao Yang, Saad Siddiqui, Liana S. Peña, Brandy H. Westerfield, Yuxin Fan, Jeffrey A. Towbin and Matteo Vatta

      Version of Record online: 24 APR 2009 | DOI: 10.1002/ajmg.a.32822

    7. 9q subtelomeric deletion syndrome with diaphragmatic hernia (pages 1086–1088)

      Laura L. Klitten, Niels Tommerup, Helle Hjalgrim and Rikke S. Møller

      Version of Record online: 24 APR 2009 | DOI: 10.1002/ajmg.a.32823

  11. Research Reviews

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

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Commentary
    6. New Syndrome
    7. Research Articles
    8. Research Letters
    9. Research Articles
    10. Clinical Reports
    11. Research Letters
    12. Research Reviews
    13. Book Reviews
    14. Correspondence
    1. Book review (page 1096)

      Robert P. Erickson

      Version of Record online: 7 APR 2009 | DOI: 10.1002/ajmg.a.32766

    2. Book review (pages 1097–1098)

      John M. Opitz and John C. Carey

      Version of Record online: 13 APR 2009 | DOI: 10.1002/ajmg.a.32843

  13. Correspondence

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

SEARCH

SEARCH BY CITATION