American Journal of Medical Genetics Part A

Cover image for Vol. 149A Issue 11

November 2009

Volume 149A, Issue 11

Pages C1–C1, fm i–fm x, 2361–2627

  1. Cover Image

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

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. Invited Comments
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Research Reviews
    11. Book Reviews
    1. Prenatal diagnosis of Down syndrome: How best to deliver the news (pages 2361–2367)

      Brian G. Skotko, Priya S. Kishnani, George T. Capone and for the Down Syndrome Diagnosis Study Group

      Article first published online: 28 SEP 2009 | DOI: 10.1002/ajmg.a.33082

  5. Invited Comments

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

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. Invited Comments
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Research Reviews
    11. Book Reviews
    1. Calvarial doughnut lesions and osteoporosis: A new three-generation family and review (pages 2371–2377)

      E. Jaakkola, C.M. Laine, M.K. Mäyränpää, A. Falck, J. Ignatius and O. Mäkitie

      Article first published online: 16 OCT 2009 | DOI: 10.1002/ajmg.a.33040

    2. Maternal attitudes toward DNA collection for gene–environment studies: A qualitative research study (pages 2378–2386)

      Mary M. Jenkins, Erika Reed-Gross, Sonja A. Rasmussen, Wanda D. Barfield, Christine E. Prue, Margaret L. Gallagher and Margaret A. Honein

      Article first published online: 16 OCT 2009 | DOI: 10.1002/ajmg.a.33043

    3. Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation (pages 2387–2392)

      Agnieszka Madej-Pilarczyk, Danuta Rosińska-Borkowska, Joanna Rękawek, Michał Marchel, Ewa Szaluś, Stefania Jabłońska and Irena Hausmanowa-Petrusewicz

      Article first published online: 19 OCT 2009 | DOI: 10.1002/ajmg.a.33018

    4. Fukutin gene retrotransposal insertion in a non-Japanese Fukuyama congenital muscular dystrophy (FCMD) patient (pages 2403–2408)

      Hui Xiong, Shuo Wang, Kazuhiro Kobayashi, Yuwu Jiang, Jingmin Wang, Xingzhi Chang, Yun Yuan, Jieyu Liu, Tatsushi Toda, Yukio Fukuyama and Xiru Wu

      Article first published online: 19 OCT 2009 | DOI: 10.1002/ajmg.a.33057

    5. Premolar hypodontia is a common feature in Sotos syndrome with a mutation in the NSD1 gene (pages 2409–2414)

      Johanna Kotilainen, Pia Pohjola, Sinikka Pirinen, Sirpa Arte and Pekka Nieminen

      Article first published online: 28 OCT 2009 | DOI: 10.1002/ajmg.a.33062

    6. Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell–Silver syndrome (pages 2415–2423)

      Shin-Ichi Horike, Jose Carlos P. Ferreira, Makiko Meguro-Horike, Sanaa Choufani, Adam C. Smith, Cheryl Shuman, Wendy Meschino, David Chitayat, Elaine Zackai, Stephen W. Scherer and Rosanna Weksberg

      Article first published online: 28 OCT 2009 | DOI: 10.1002/ajmg.a.33065

    7. Maternal knowledge and attitudes about newborn screening for sickle cell disease and cystic fibrosis (pages 2424–2429)

      Colleen Walsh Lang, Alex P. Stark, Kruti Acharya and Lainie Friedman Ross

      Article first published online: 28 OCT 2009 | DOI: 10.1002/ajmg.a.33074

    8. Psychosocial aspects of patients with Niemann-Pick disease, type B (pages 2430–2436)

      Shelly L. Henderson, Wendy Packman and Seymour Packman

      Article first published online: 28 OCT 2009 | DOI: 10.1002/ajmg.a.33077

    9. Array-based comparative genomic hybridization (aCGH) in the genetic evaluation of stillbirth (pages 2437–2443)

      Gordana Raca, Amber Artzer, Laura Thorson, Suzanne Huber, Peggy Modaff, Jennifer Laffin and Richard M. Pauli

      Article first published online: 28 OCT 2009 | DOI: 10.1002/ajmg.a.33083

    10. Population-based Tay-Sachs screening among Ashkenazi Jewish young adults in the 21st century: Hexosaminidase a enzyme assay is essential for accurate testing (pages 2444–2447)

      Adele Schneider, Sachiko Nakagawa, Rosanne Keep, Darnelle Dorsainville, Joel Charrow, Kirk Aleck, Jodi Hoffman, Sherman Minkoff, David Finegold, Wei Sun, Andrew Spencer, Johannah Lebow, Jie Zhan, Stephen Apfelroth, Nicole Schreiber-Agus and Susan Gross

      Article first published online: 28 OCT 2009 | DOI: 10.1002/ajmg.a.33085

  7. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. Invited Comments
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Research Reviews
    11. Book Reviews
    1. Satoyoshi syndrome with unusual skeletal abnormalities and parental consanguinity (pages 2448–2451)

      C.A. Venegas-Vega, M.R. Rivera-Vega, S. Cuevas-Covarrubias, J. Orozco and S. Kofman-Alfaro

      Article first published online: 16 OCT 2009 | DOI: 10.1002/ajmg.a.32751

    2. Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: Report of a novel mutation of the PCNT gene (pages 2452–2456)

      Maria Piane, Matteo Della Monica, Gianluca Piatelli, Patrizia Lulli, Fortunato Lonardo, Luciana Chessa and Gioacchino Scarano

      Article first published online: 16 OCT 2009 | DOI: 10.1002/ajmg.a.33035

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      Pulmonary hypoplasia–diaphragmatic hernia–anophthalmia–cardiac defect (PDAC) syndrome due to STRA6 mutations—What are the minimal criteria? (pages 2457–2463)

      Reeval Segel, Ephrat Levy-Lahad, Francesca Pasutto, Elie Picard, Anita Rauch, Gheona Alterescu and Michael S. Schimmel

      Article first published online: 16 OCT 2009 | DOI: 10.1002/ajmg.a.33038

    4. X-linked brachytelephalangic chondrodysplasia punctata: A simple trait that is not so simple (pages 2464–2468)

      Alberto Casarin, Francesca Rusalen, Mara Doimo, Eva Trevisson, Silvia Carraro, Maurizio Clementi, Romano Tenconi, Eugenio Baraldi and Leonardo Salviati

      Article first published online: 16 OCT 2009 | DOI: 10.1002/ajmg.a.33039

    5. You have free access to this content
      Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus (pages 2469–2478)

      Christèle du Souich, Athena Chou, Jingyi Yin, Tracey Oh, Tanya N. Nelson, Jane Hurlburt, Laura Arbour, Robin Friedlander, Barbara C. McGillivray, Nataliya Tyshchenko, Andreas Rump, Kenneth J. Poskitt, Michelle K. Demos, Margot I. Van Allen and Cornelius F. Boerkoel

      Article first published online: 19 OCT 2009 | DOI: 10.1002/ajmg.a.33071

    6. Brainstem disconnection associated with nodular heterotopia and proatlantal arteries (pages 2479–2483)

      Akihisa Okumura, Tsubasa Lee, Keiko Shimojima, Ken Hisata, Hiromichi Shoji, Jun-ichi Takanashi, Toshiyuki Yamamoto, Toshiaki Shimizu and A. James Barkovich

      Article first published online: 19 OCT 2009 | DOI: 10.1002/ajmg.a.33044

    7. Genital anomalies in three male siblings with Simpson–Golabi–Behmel syndrome (pages 2484–2488)

      Christopher B. Griffith, Richard C. Probert and Gail H. Vance

      Article first published online: 19 OCT 2009 | DOI: 10.1002/ajmg.a.33047

    8. Three novel mutations of the IRF6 gene with one associated with an unusual feature in Van der Woude syndrome (pages 2489–2492)

      Patra Yeetong, Charan Mahatumarat, Pichit Siriwan, Nond Rojvachiranonda, Kanya Suphapeetiporn and Vorasuk Shotelersuk

      Article first published online: 19 OCT 2009 | DOI: 10.1002/ajmg.a.33048

    9. Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy (pages 2493–2500)

      Anne-Claire Bursztejn, Myriam Bronner, Sylviane Peudenier, Marie-José Grégoire, Philippe Jonveaux and Christophe Nemos

      Article first published online: 19 OCT 2009 | DOI: 10.1002/ajmg.a.33051

    10. Conversion disorder in women with the FMR1 premutation (pages 2501–2506)

      Andreea L. Seritan, Andrea Schneider, John M. Olichney, Maureen A. Leehey, R. Scott Akins and Randi J. Hagerman

      Article first published online: 19 OCT 2009 | DOI: 10.1002/ajmg.a.33054

    11. Cytogenetic and molecular characterization of a partial trisomy 2p arising from inverted duplication of 2p with terminal deletion of 2pter (pages 2507–2512)

      Carlos A. Tirado, Samuel Henderson, Naseem Uddin, Ewa Stewart, Santha Iyer, Ian M. Ratner, Erin Matthews, Jeffrey Doolittle, Rolando Garcia, Federico Valdez, Stephanie Dallaire, Taylor Appleberry, Deborah Payne and Robert Collins

      Article first published online: 28 OCT 2009 | DOI: 10.1002/ajmg.a.33080

    12. Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes (pages 2513–2521)

      Ascensión Vera-Carbonell, Juan Antonio Bafalliu, Encarna Guillén-Navarro, Ariadna Escalona, María J. Ballesta-Martínez, Carme Fuster, Asunción Fernández and Isabel López-Expósito

      Article first published online: 19 OCT 2009 | DOI: 10.1002/ajmg.a.33055

    13. “Essentially” pure trisomy 3q27 [RIGHTWARDS ARROW] qter: Further delineation of the partial trisomy 3q phenotype (pages 2522–2526)

      Vera Grossmann, Doris Müller, Wilfried Müller, Friedrich Fresser, Martin Erdel, Andreas R. Janecke, Johannes Zschocke, Gerd Utermann and Dieter Kotzot

      Article first published online: 19 OCT 2009 | DOI: 10.1002/ajmg.a.33058

    14. Clinical problems and everyday abilities of a group of Italian adolescent and young adults with Cornelia de Lange syndrome (pages 2532–2537)

      Giovanna Olioso, Alice Passarini, Francesca Atzeri, Donatella Milani, Anna Cereda, Marta Cerutti, Silvia Maitz, Francesca Menni and Angelo Selicorni

      Article first published online: 28 OCT 2009 | DOI: 10.1002/ajmg.a.33075

    15. Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia (pages 2543–2546)

      Benjamin D. Solomon, Daniel E. Pineda-Alvarez, Joan Z. Balog, Donald Hadley, Andrea L. Gropman, Radha Nandagopal, Joan C. Han, Jin S. Hahn, Delphine Blain, Brian Brooks and Maximilian Muenke

      Article first published online: 28 OCT 2009 | DOI: 10.1002/ajmg.a.33081

    16. Pure distal trisomy 2q: A rare chromosomal abnormality with recognizable phenotype (pages 2547–2550)

      Miriam Elbracht, Andreas Roos, Nadine Schönherr, Sabine Busse, Reinhild Damen, Klaus Zerres, Sabine Rudnik-Schöneborn and Herdit Monika Schüler

      Article first published online: 28 OCT 2009 | DOI: 10.1002/ajmg.a.33086

  8. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. Invited Comments
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Research Reviews
    11. Book Reviews
    1. Replication of novel susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24 in Estonian and Lithuanian patients (pages 2551–2553)

      Tiit Nikopensius, Laima Ambrozaitytė, Kerstin U. Ludwig, Stefanie Birnbaum, Triin Jagomägi, Mare Saag, Aušra Matulevičienė, Laura Linkevičienė, Stefan Herms, Michael Knapp, Per Hoffmann, Markus M. Nöthen, Vaidutis Kučinskas, Andres Metspalu and Elisabeth Mangold

      Article first published online: 16 OCT 2009 | DOI: 10.1002/ajmg.a.33024

    2. De novo terminal 22q12.3q13.3 duplication with pituitary hypoplasia (pages 2554–2556)

      Nicola Brunetti-Perri, Ankita Patel, Chester W. Brown, Ronald A. Rauch and Rubina A. Heptulla

      Article first published online: 16 OCT 2009 | DOI: 10.1002/ajmg.a.33041

    3. A de novo direct duplication of 16q22.1 [RIGHTWARDS ARROW] q23.1 in a boy with midface hypoplasia and mental retardation (pages 2560–2563)

      Tomoharu Tokutomi, Takahito Wada, Eiji Nakagawa, Shinji Saitoh and Masayuki Sasaki

      Article first published online: 19 OCT 2009 | DOI: 10.1002/ajmg.a.33049

    4. A new case of syndromic craniosynostosis with cryptic 19p13.2–p13.13 deletion (pages 2564–2568)

      Philippe A. Lysy, Marie Ravoet, Sandrine Wustefeld, Pierre Bernard, Marie-Cécile Nassogne, Elisabeth Wyns and Catherine Sibille

      Article first published online: 19 OCT 2009 | DOI: 10.1002/ajmg.a.33056

    5. The syndrome of pachygyria, mental retardation, and arachnoid cysts maps to 11p15 (pages 2569–2572)

      Kaya Bilguvar, Ali K. Ozturk, Fatih Bayrakli, Aslan Guzel, Michael L. DiLuna, Yasar Bayri, Mehmet Tatli, Selahaddin Tekes, Zulfikar Arlier, Katsuhito Yasuno, Christopher E. Mason, Richard P. Lifton, Matthew W. State and Murat Gunel

      Article first published online: 28 OCT 2009 | DOI: 10.1002/ajmg.a.33063

    6. Unexpected diagnosis of 45,X/47,XX,+18 mosaicism in a girl with mild phenotype (pages 2584–2587)

      Caroline Schluth-Bolard, Damien Sanlaville, Audrey Labalme, Marianne Till, Laurence Michel-Calemard, Azim Rafat, Marie-Thérèse Zabot, Marc Nicolino, Laurent Guibaud and Patrick Edery

      Article first published online: 5 JUN 2009 | DOI: 10.1002/ajmg.a.32772

  9. Research Reviews

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. Invited Comments
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Research Reviews
    11. Book Reviews
    1. Weismann-Netter syndrome and mental retardation: A new patient and review of the literature (pages 2593–2601)

      Maarit Peippo, Leena Valanne, Marja Perhomaa, Leena Toivanen and Jaakko Ignatius

      Article first published online: 16 OCT 2009 | DOI: 10.1002/ajmg.a.33019

  10. Book Reviews

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. Invited Comments
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Research Reviews
    11. Book Reviews
    1. Book review (page 2627)

      F. Clarke Fraser

      Article first published online: 16 OCT 2009 | DOI: 10.1002/ajmg.a.33076

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