American Journal of Medical Genetics Part A

Cover image for Vol. 164 Issue 5

May 2014

Volume 164, Issue 5

Pages C1–C1, fm i–fm vi, vii–x, 1085–1346

  1. Cover Image

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

      Version of Record online: 14 APR 2014 | DOI: 10.1002/ajmg.a.36577

  4. New Syndrome

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Letter
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Book Review
    11. Correspondence
    12. Erratum
    1. Encephalocele—radial, cardiac, gastrointestinal, anal/renal anomalies: Novel evidence for a new condition? (pages 1085–1091)

      Carolina M. Valdez, Stephan P.L. Altmayer, McArthur A. Barrow, Jorge A.B. Telles, Rosilene da S. Betat, Paulo R.G. Zen and Rafael F.M. Rosa

      Version of Record online: 19 MAR 2014 | DOI: 10.1002/ajmg.a.36426

  5. Research Letter

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

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Letter
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Book Review
    11. Correspondence
    12. Erratum
    1. Genetic counselor review of genetic test orders in a reference laboratory reduces unnecessary testing (pages 1094–1101)

      Christine E. Miller, Patti Krautscheid, Erin E. Baldwin, Tatiana Tvrdik, Amanda S. Openshaw, Kim Hart and Danielle LaGrave

      Version of Record online: 24 MAR 2014 | DOI: 10.1002/ajmg.a.36453

    2. The intellectual disabilities evaluation and advice system (IDEAS): Outcome of the first 55 cases (pages 1102–1117)

      Alasdair G.W. Hunter, John M. Graham Jr, Giovanni Neri, R. Curtis Rogers, Roger E. Stevenson, Gillian Turner and Michael J. Friez

      Version of Record online: 24 MAR 2014 | DOI: 10.1002/ajmg.a.36456

    3. Scoliosis and vertebral anomalies: Additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement (pages 1118–1126)

      Hussam Al-Kateb, Geetika Khanna, Isabel Filges, Natalie Hauser, Dorothy K. Grange, Joseph Shen, Christopher D. Smyser, Shashikant Kulkarni and Marwan Shinawi

      Version of Record online: 23 JAN 2014 | DOI: 10.1002/ajmg.a.36401

    4. Hypoglycemia in Prader–Willi syndrome (pages 1127–1129)

      Rena A. Harrington, David A. Weinstein and Jennifer L. Miller

      Version of Record online: 23 JAN 2014 | DOI: 10.1002/ajmg.a.36405

    5. Cardiac manifestations of Pallister–Killian syndrome (pages 1130–1135)

      Richard K. Tilton, Alisha Wilkens, Ian D. Krantz and Kosuke Izumi

      Version of Record online: 6 FEB 2014 | DOI: 10.1002/ajmg.a.36413

    6. Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta (pages 1136–1142)

      Encarna Guillén-Navarro, María Juliana Ballesta-Martínez, María Valencia, Ana María Bueno, Victor Martinez-Glez, Vanesa López-González, Birute Burnyte, Algirdas Utkus, Pablo Lapunzina and Victor L. Ruiz-Perez

      Version of Record online: 29 JAN 2014 | DOI: 10.1002/ajmg.a.36409

    7. Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects (pages 1143–1150)

      María Valencia, Jose A. Caparrós-Martin, María Salomé Sirerol-Piquer, José Manuel García-Verdugo, Víctor Martínez-Glez, Pablo Lapunzina, Samia Temtamy, Mona Aglan, Allan M. Lund, Peter G. J. Nikkels, Victor L. Ruiz-Perez and Elsebet Ostergaard

      Version of Record online: 19 MAR 2014 | DOI: 10.1002/ajmg.a.36427

    8. Frequency of FMR1 gene mutation and CGG repeat polymorphism in intellectually disabled children in Pakistan (pages 1151–1161)

      Tasneem Fatima, Syed Aley Hasan Zaidi, Noorjehan Sarfraz, Siddiqa Perween, Faraz Khurshid and Fauzia Imtiaz

      Version of Record online: 29 JAN 2014 | DOI: 10.1002/ajmg.a.36423

    9. Mucopolysaccharidosis type IVA: Evidence of primary and secondary central nervous system involvement (pages 1162–1169)

      Felippe Borlot, Paula Ricci Arantes, Caio Robledo Quaio, José Francisco da Silva Franco, Charles Marques Lourenço, Israel Gomy, Debora Romeo Bertola and Chong Ae Kim

      Version of Record online: 29 JAN 2014 | DOI: 10.1002/ajmg.a.36424

    10. Sclerocornea in a patient with van den Ende–Gupta syndrome homozygous for a SCARF2 microdeletion (pages 1170–1174)

      Michele P. Migliavacca, Nara L. M. Sobreira, Graziela P.M. Antonialli, Mariana M. Oliveira, Maria Isabel S.A. Melaragno, Ingele Casteels, Thomy de Ravel, Decio Brunoni, David Valle and Ana Beatriz A. Perez

      Version of Record online: 29 JAN 2014 | DOI: 10.1002/ajmg.a.36425

    11. MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type (pages 1175–1179)

      Luisa Bonafé, Jinlong Liang, Maria W. Gorna, Qingyan Zhang, Russia Ha-Vinh, Ana Belinda Campos-Xavier, Sheila Unger, Jacques S. Beckmann, Antony Le Béchec, Brian Stevenson, Andres Giedion, Xuanzhu Liu, Giulio Superti-Furga, Wei Wang, André Spahr and Andrea Superti-Furga

      Version of Record online: 19 MAR 2014 | DOI: 10.1002/ajmg.a.36431

    12. Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy (pages 1180–1187)

      Misako Naiki, Nobuhiko Ochi, Yusuke S. Kato, Jamiyan Purevsuren, Kenichiro Yamada, Reiko Kimura, Daisuke Fukushi, Shinya Hara, Yasukazu Yamada, Toshiyuki Kumagai, Seiji Yamaguchi and Nobuaki Wakamatsu

      Version of Record online: 24 MAR 2014 | DOI: 10.1002/ajmg.a.36434

    13. Analysis of two candidate genes for Basan syndrome (pages 1188–1191)

      Katherine C. Marks, Wesley R. Banks III, David Cunningham, Patricia M. Witman and Gail E. Herman

      Version of Record online: 24 MAR 2014 | DOI: 10.1002/ajmg.a.36438

    14. An economic analysis of prenatal cytogenetic technologies for sonographically detected fetal anomalies (pages 1192–1197)

      Lorie M. Harper, Amelia L.M. Sutton, Ryan E. Longman and Anthony O. Odibo

      Version of Record online: 24 MAR 2014 | DOI: 10.1002/ajmg.a.36435

    15. The E180splice mutation in the GHR gene causing Laron syndrome: Witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World? (pages 1204–1208)

      Fernanda T. Gonçalves, Cintia Fridman, Emília M. Pinto, Jaime Guevara-Aguirre, Orit Shevah, Arlan L. Rosembloom, Vivian Hwa, Fernando Cassorla, Ron G. Rosenfeld, Theresa S.S. Lins, Durval Damiani, Ivo J.P. Arnhold, Zvi Laron and Alexander A.L. Jorge

      Version of Record online: 24 MAR 2014 | DOI: 10.1002/ajmg.a.36444

  7. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Letter
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Book Review
    11. Correspondence
    12. Erratum
    1. Yunis–varon syndrome: Further delineation of cardiovascular and endocrine outcome (pages 1213–1217)

      P. Varghese, N. Collins, G. Warner, J. Leitch, E. Ho and P. Crock

      Version of Record online: 7 MAR 2014 | DOI: 10.1002/ajmg.a.35741

    2. Coarctation of the aorta in Noonan-like syndrome with loose anagen hair (pages 1218–1221)

      Michaela Zmolikova, Alena Puchmajerova, Petr Hecht, Jan Lebl, Marie Trkova and Anna Krepelova

      Version of Record online: 23 JAN 2014 | DOI: 10.1002/ajmg.a.36404

    3. Pneumothorax from subpleural blebs—A new association of sotos syndrome? (pages 1222–1226)

      Meena Balasubramanian, Emma Shearing, Kath Smith, R. Chavasse, R. Taylor, Katrina Tatton-Brown, Robert Primhak, Kelechi Ugonna and Michael J. Parker

      Version of Record online: 23 JAN 2014 | DOI: 10.1002/ajmg.a.36406

    4. Monochorionic twins discordant for mosaic trisomy 14 (pages 1227–1233)

      Mai He, John R. Pepperell, Fusun Gundogan, Monique E. De Paepe, Lindsay Maggio, Shaolei Lu, Stefan Kostadinov, Barbara O'Brien, Suzanne DeLaMonte, Halit Pinar and Umadevi Tantravahi

      Version of Record online: 23 JAN 2014 | DOI: 10.1002/ajmg.a.36407

    5. Long-term observation of a patient with dominant omodysplasia (pages 1234–1238)

      Barbara L. Gordon, Neena L. Champaigne, R. Curtis Rogers, Jaime L. Frias and Jules G. Leroy

      Version of Record online: 23 JAN 2014 | DOI: 10.1002/ajmg.a.36408

    6. Recurrent proximal 18p monosomy and 18q trisomy in a family due to a pericentric inversion (pages 1239–1244)

      Ayse Gul Zamani, Aynur Acar, Gul Durakbasi-Dursun, M. Selman Yildirim, Serdar Ceylaner and Ebru Tuncez

      Version of Record online: 29 JAN 2014 | DOI: 10.1002/ajmg.a.36410

    7. Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: Report of three affected patients (pages 1245–1253)

      Marie T. Greally, Neale N. Kalis, Wahid Agab, Kasim Ardati, Sanda Giurgea, Uwe Kornak and Lionel Van Maldergem

      Version of Record online: 29 JAN 2014 | DOI: 10.1002/ajmg.a.36411

    8. Klippel-Trenaunay syndrome in a boy with concomitant ipsilateral overgrowth and undergrowth (pages 1262–1267)

      Martino Ruggieri, Vito Pavone, Agata Polizzi, Raffaele Falsaperla, Marco Fichera and Piero Pavone

      Version of Record online: 29 JAN 2014 | DOI: 10.1002/ajmg.a.36414

    9. Congenital nasal pyriform aperture stenosis and ocular albinism co-occurring in a sibship with a maternally-inherited 97 kb Xp22.2 microdeletion (pages 1268–1271)

      David Somsen, Laura Davis-Keppen, Patricia Crotwell, Jason Flanagan, Patrick Munson and Quinn Stein

      Version of Record online: 29 JAN 2014 | DOI: 10.1002/ajmg.a.36415

    10. Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: A clinical report and review of literature (pages 1272–1276)

      Yoko Narumi, Sachiko Nishina, Motoharu Tokimitsu, Yoko Aoki, Rika Kosaki, Keiko Wakui, Noriyuki Azuma, Toshinori Murata, Fumio Takada, Yoshimitsu Fukushima and Tomoki Kosho

      Version of Record online: 24 MAR 2014 | DOI: 10.1002/ajmg.a.36433

    11. A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes (pages 1277–1283)

      Deborah Bartholdi, Asbjørg Stray-Pedersen, Silvia Azzarello-Burri, Maria Kibaek, Maria Kirchhoff, Beatrice Oneda, Olaug Rødningen, Thomas Schmitt-Mechelke, Anita Rauch and Susanne Kjaergaard

      Version of Record online: 24 MAR 2014 | DOI: 10.1002/ajmg.a.36439

    12. Arterial and venous thrombosis of the cerebral vasculature in GAPO syndrome (pages 1284–1288)

      Burcu Zeydan, Gulcin Benbir, Derya Uluduz, Birsen Ince, Baki Goksan and Civan Islak

      Version of Record online: 24 MAR 2014 | DOI: 10.1002/ajmg.a.36440

    13. A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A (pages 1289–1292)

      Damien Lederer, Debbie Shears, Valérie Benoit, Christine Verellen-Dumoulin and Isabelle Maystadt

      Version of Record online: 24 MAR 2014 | DOI: 10.1002/ajmg.a.36442

    14. An intragenic deletion of the gene MNAT1 in a family with pectus deformities (pages 1293–1297)

      Jennifer L. Heithaus, Sandra Davenport, Kimberly A. Twyman, Erin E. Torti and Jacqueline R. Batanian

      Version of Record online: 24 MAR 2014 | DOI: 10.1002/ajmg.a.36445

    15. A tortuous proximal urethra in urorectal septum malformation sequence? (pages 1298–1303)

      Henry J. Lin, Hector Lugo, Thu Tran, Jason P. Tovar, Julia Corral, Noelia M. Zork, Lynne M. Smith, Samuel W. French and Luciano Barajas

      Version of Record online: 24 MAR 2014 | DOI: 10.1002/ajmg.a.36451

    16. Phenotype of a patient with contiguous deletion of TBX5 and TBX3: Expanding the disease spectrum (pages 1304–1309)

      Soujanya Bogarapu, Steven B. Bleyl, Amy Calhoun, David Viskochil, Elizabeth V. Saarel, Melanie D. Everitt and Deborah U. Frank

      Version of Record online: 24 MAR 2014 | DOI: 10.1002/ajmg.a.36447

    17. Multiple congenital anomalies-intellectual disability (MCA-ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion (pages 1310–1317)

      Daphné Lehalle, Damien Sanlaville, Anne Guimier, Emmanuel Plouvier, Thierry Leblanc, Louise Galmiche, Isabelle Radford, Serge Romana, Laurence Colleaux, Loïc de Pontual, Stanislas Lyonnet and Jeanne Amiel

      Version of Record online: 24 MAR 2014 | DOI: 10.1002/ajmg.a.36452

    18. Segmental overgrowth syndrome due to an activating PIK3CA mutation identified in affected muscle tissue by exome sequencing (pages 1318–1321)

      Maria Rasmussen, Lone Sunde, Karen Petra Weigert, Pauline Wilhemina Bogaard and Dorte L. Lildballe

      Version of Record online: 24 MAR 2014 | DOI: 10.1002/ajmg.a.36454

  8. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Letter
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Book Review
    11. Correspondence
    12. Erratum
    1. Skull defects, alopecia, hypertelorism, and notched alae nasi caused by homozygous ALX4 gene mutation (pages 1322–1327)

      Ariana Kariminejad, Bita Bozorgmehr, Houman Alizadeh, Siavash Ghaderi-Sohi, Güven Toksoy, Zehra Oya Uyguner and Hülya Kayserili

      Version of Record online: 25 MAR 2014 | DOI: 10.1002/ajmg.a.36008

    2. A case of Rubinstein-Taybi syndrome and congenital neuroblastoma (pages 1332–1333)

      Ellen de Kort, Nikk Conneman and Karin Diderich

      Version of Record online: 23 JAN 2014 | DOI: 10.1002/ajmg.a.36399

  9. Book Review

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

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Letter
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Book Review
    11. Correspondence
    12. Erratum
    1. Challenges of classifying double outlet right ventricle: Importance for genotype–phenotype analyses (page 1340)

      Lucia Martina Silvestri, Alessia Scarabotti and Bruno Marino

      Version of Record online: 24 MAR 2014 | DOI: 10.1002/ajmg.a.36448

  11. Erratum

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Letter
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Book Review
    11. Correspondence
    12. Erratum
    1. You have free access to this content
      Erratum to “Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome”, Am J Med Genet Part A 161A:1638–1646 (page 1346)

      Christopher A. Chapleau, Jane Lane, Susan Kirwin, Carolyn Schanen, Kathy M. B. Vinette, Danielle Stubbolo, Patrick MacLeod, Daniel G. Glaze, Kathleen J. Motil, Jeffrey L. Neul, Steven A. Skinner, Walter E. Kaufmann and Alan K. Percy

      Version of Record online: 14 APR 2014 | DOI: 10.1002/ajmg.a.36493

      This article corrects:

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