American Journal of Medical Genetics Part A

Cover image for Vol. 149A Issue 8

August 2009

Volume 149A, Issue 8

Pages C1–C1, fm i–fm x, 1615–1884

  1. Cover Image

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

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

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Conference Reports
    6. Invited Comments
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Research Reviews
    11. Book Reviews
    12. Corrigenda
    1. A silent majority? (page 1623)

      Leslie G. Biesecker

      Article first published online: 15 MAY 2009 | DOI: 10.1002/ajmg.a.32832

  6. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Conference Reports
    6. Invited Comments
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Research Reviews
    11. Book Reviews
    12. Corrigenda
    1. A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon (pages 1624–1627)

      D. Macaya, S.H. Katsanis, T.W. Hefferon, S. Audlin, N.J. Mendelsohn, J. Roggenbuck and G.R. Cutting

      Article first published online: 1 JUL 2009 | DOI: 10.1002/ajmg.a.32834

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      Nicolaides–Baraitser syndrome: Delineation of the phenotype (pages 1628–1640)

      Sérgio B. Sousa, Omar A. Abdul-Rahman, Armand Bottani, Valérie Cormier-Daire, Alan Fryer, Gabriele Gillessen-Kaesbach, Denise Horn, Dragana Josifova, Alma Kuechler, Melissa Lees, Kay MacDermot, Alex Magee, Fanny Morice-Picard, Elizabeth Rosser, Ajoy Sarkar, Nora Shannon, Irene Stolte-Dijkstra, Alain Verloes, Emma Wakeling, Louise Wilson and Raoul C.M. Hennekam

      Article first published online: 15 JUL 2009 | DOI: 10.1002/ajmg.a.32956

    3. The efficacy, safety, and tolerability of donepezil for the treatment of young adults with Down syndrome (pages 1641–1654)

      Priya S. Kishnani, Barbara R. Sommer, Benjamin L. Handen, Benjamin Seltzer, George T. Capone, Gail A. Spiridigliozzi, James H. Heller, Sharon Richardson and Thomas McRae

      Article first published online: 15 JUL 2009 | DOI: 10.1002/ajmg.a.32953

    4. Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia (pages 1661–1677)

      Margaret J. Wat, Oleg A. Shchelochkov, Ashley M. Holder, Amy M. Breman, Aditi Dagli, Carlos Bacino, Fernando Scaglia, Roberto T. Zori, Sau Wai Cheung, Daryl A. Scott and Sung-Hae Lee Kang

      Article first published online: 15 JUL 2009 | DOI: 10.1002/ajmg.a.32896

    5. Adams–Oliver syndrome: Additions to the clinical features and possible role of BMP pathway (pages 1678–1684)

      Shankar Baskar, Muralidhar Laxmanrao Kulkarni, Akhil Muralidhar Kulkarni, Suhasini Vittalrao and Preethi Muralidhar Kulkarni

      Article first published online: 15 JUL 2009 | DOI: 10.1002/ajmg.a.32938

    6. Investigation of factors associated with paternal nondisjunction of chromosome 21 (pages 1685–1690)

      Tiffany Renee Oliver, Archit Bhise, Eleanor Feingold, Stuart Tinker, Nirupama Masse and Stephanie L. Sherman

      Article first published online: 15 JUL 2009 | DOI: 10.1002/ajmg.a.32942

    7. Experience with hemihyperplasia and Beckwith–Wiedemann syndrome surveillance protocol (pages 1691–1697)

      Yuri A. Zarate, Rafael Mena, Lisa J. Martin, Paul Steele, Bradley T. Tinkle and Robert J. Hopkin

      Article first published online: 16 JUL 2009 | DOI: 10.1002/ajmg.a.32966

    8. A large X-chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI) (pages 1698–1705)

      Grace M. Hobson, Carolyn W. Gibson, Melissa Aragon, Zhi-an Yuan, Angelique Davis-Williams, Linda Banser, Jennifer Kirkham and Alan H. Brook

      Article first published online: 16 JUL 2009 | DOI: 10.1002/ajmg.a.32968

    9. Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals (pages 1712–1721)

      Melissa T. Carter, Stephanie A. St. Pierre, Elaine H. Zackai, Beverly S. Emanuel and Kym M. Boycott

      Article first published online: 15 JUL 2009 | DOI: 10.1002/ajmg.a.32957

  7. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Conference Reports
    6. Invited Comments
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Research Reviews
    11. Book Reviews
    12. Corrigenda
    1. Vertebral fusion in a patient with supernumerary-der(22)t(11;22) syndrome (pages 1722–1726)

      Mitsuo Toyoshima, Chihiro Yonee, Yoshihiro Maegaki, Toshiyuki Yamamoto, Keiko Shimojima, Shinsuke Maruyama and Yoshifumi Kawano

      Article first published online: 7 APR 2009 | DOI: 10.1002/ajmg.a.32762

    2. Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients (pages 1727–1733)

      Beyhan Tüysüz, Safa Barış, Figen Aksoy, Rıza Madazlı, Savaş Üngür and Lale Sever

      Article first published online: 16 JUL 2009 | DOI: 10.1002/ajmg.a.32962

    3. Congenital skin pedicles with or without amniotic band sequence: Extending the human phenotype resembling mouse disorganization (pages 1734–1739)

      B. Isidor, G. Baujat, C. Le Caignec, O. Pichon, D. Martin-Coignard, A. Toutain and A. David

      Article first published online: 15 MAY 2009 | DOI: 10.1002/ajmg.a.32796

    4. Expanding the phenotypic spectrum of acro-cardio-facial syndrome (ACFS): Exclusion of P63 mutation (pages 1749–1753)

      Pranoot Tanpaiboon, Rekwan Sittiwangkul, Prapai Dejkhamron, Metawee Srikummool, Warissara Sripathomsawat and Piranit Kantaputra

      Article first published online: 15 JUL 2009 | DOI: 10.1002/ajmg.a.32737

    5. Evolution of a patient with Bohring–Opitz syndrome (pages 1754–1757)

      Sophie Pierron, Christian Richelme, Valérie Triolo, Jean Christophe Mas, Jacques Griffet, Houda Karmous-Benailly, M. Quere, Tadashi Kaname, Jean-Claude Lambert and Fabienne Giuliano

      Article first published online: 15 JUL 2009 | DOI: 10.1002/ajmg.a.32910

    6. A 1q42 deletion involving DISC1, DISC2, and TSNAX in an autism spectrum disorder (pages 1758–1762)

      Jaime M. Williams, Tyler F. Beck, David M. Pearson, Monica B. Proud, Sau Wai Cheung and Daryl A. Scott

      Article first published online: 15 JUL 2009 | DOI: 10.1002/ajmg.a.32941

    7. Darier disease, multiple bone cysts, and aniridia due to double de novo heterozygous mutations in ATP2A2 and PAX6 (pages 1768–1772)

      Marco Castori, Luana Barboni, Philippa J. Duncan, Mauro Paradisi, Luigi Laino, Carmelilia De Bernardo, David O. Robinson and Paola Grammatico

      Article first published online: 16 JUL 2009 | DOI: 10.1002/ajmg.a.32960

    8. Oculocutaneous albinism type IV: A boy of Moroccan descent with a novel mutation in SLC45A2 (pages 1773–1776)

      Takayuki Konno, Yuko Abe, Masakazu Kawaguchi, Katrien Storm, Martine Biervliet, Winnie Courtens, Michihiro Kono, Yasushi Tomita and Tamio Suzuki

      Article first published online: 16 JUL 2009 | DOI: 10.1002/ajmg.a.32964

    9. 3q29 microdeletion: A mental retardation disorder unassociated with a recognizable phenotype in two mother–daughter pairs (pages 1777–1781)

      Maria Cristina Digilio, Laura Bernardini, Rita Mingarelli, Rossella Capolino, Anna Capalbo, Maria Grazia Giuffrida, Paolo Versacci, Antonio Novelli and Bruno Dallapiccola

      Article first published online: 16 JUL 2009 | DOI: 10.1002/ajmg.a.32965

    10. Partial trisomy 19p13.3 and partial monosomy 1p36.3: Clinical report and a literature review (pages 1782–1785)

      Surasak Puvabanditsin, Eugene Garrow, Erik Brandsma, Jayshree Savla, Bgee Kunjumon and Inder Gadi

      Article first published online: 16 JUL 2009 | DOI: 10.1002/ajmg.a.32972

    11. Mosaic trisomy 1q: The longest surviving case (pages 1795–1800)

      Chirag Patel, Graham Hardy, Phillip Cox, Sarah Bowdin, Carole McKeown and Alison Bedford Russell

      Article first published online: 16 JUL 2009 | DOI: 10.1002/ajmg.a.32959

  8. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Conference Reports
    6. Invited Comments
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Research Reviews
    11. Book Reviews
    12. Corrigenda
    1. Prenatal diagnosis of mosaic complete trisomy 1q (pages 1801–1805)

      Colleen L. Schmitt, Julie S. Moldenhauer, Honor Wolfe, Kathleen Kaiser-Rogers and Cynthia M. Powell

      Article first published online: 16 JUL 2009 | DOI: 10.1002/ajmg.a.32986

    2. Morning melatonin levels in Prader–Willi syndrome (pages 1809–1813)

      Merlin G. Butler, Duane T. Brandau, Mariana F. Theodoro and Uttam Garg

      Article first published online: 15 JUL 2009 | DOI: 10.1002/ajmg.a.33001

    3. Novel FGFR2 deletion in a patient with Beare–Stevenson-like syndrome (pages 1814–1817)

      Anne Slavotinek, Howard Crawford, Mahin Golabi, Cathy Tao, Hazel Perry, Sneha Oberoi, Karin Vargervik and Michael Friez

      Article first published online: 16 JUL 2009 | DOI: 10.1002/ajmg.a.32947

    4. Non-pathological paternal isodisomy of chromosome 2 detected from a genome-wide SNP scan (pages 1823–1826)

      Matthew C. Keller, Allan F. McRae, Julie M. McGaughran, Peter M. Visscher, Nicholas G. Martin and Grant W. Montgomery

      Article first published online: 16 JUL 2009 | DOI: 10.1002/ajmg.a.32973

    5. Keppen–Lubinsky syndrome: Expanding the phenotype (pages 1827–1829)

      Lina Basel-Vanagaite, Lisa Shaffer and David Chitayat

      Article first published online: 16 JUL 2009 | DOI: 10.1002/ajmg.a.32975

    6. Molecular characterization of two patients with de novo interstitial deletions in 4q22–q24 (pages 1830–1833)

      Yvonne Hilhorst-Hofstee, Zeynep Tümer, Peter Born, Jeroen Knijnenburg, Kerstin Hansson, Vindhya Yatawara, Jesper Steensberg, Reinhard Ullmann, Ger Arkesteijn, Niels Tommerup and Lars Allan Larsen

      Article first published online: 16 JUL 2009 | DOI: 10.1002/ajmg.a.32977

    7. Submicroscopic distal deletion of the long arm of chromosome 13(13q34) with corpus callosum agenesis (pages 1834–1836)

      Ingrid Witters, Elyes Chabchoub, Joris R. Vermeesch and Jean-Pierre Fryns

      Article first published online: 16 JUL 2009 | DOI: 10.1002/ajmg.a.32978

    8. Identification of two new mutations in TRPS 1 gene leading to the tricho-rhino-phalangeal syndrome type I and III (pages 1837–1841)

      Maria Piccione, Marcello Niceta, Vincenzo Antona, Antonella Di Fiore, Filomena Cariola, Mattia Gentile and Giovanni Corsello

      Article first published online: 16 JUL 2009 | DOI: 10.1002/ajmg.a.32952

    9. A 781-kb deletion of 13q12.3 in a patient with Peters plus syndrome (pages 1842–1845)

      Chad R. Haldeman-Englert, Taiyabah Naeem, Elizabeth A. Geiger, Ashley Warnock, Holly Feret, Melissa Ciano, Stefanie L. Davidson, Matthew A. Deardorff, Elaine H. Zackai and Tamim H. Shaikh

      Article first published online: 16 JUL 2009 | DOI: 10.1002/ajmg.a.32980

    10. Search for genomic imbalances in a cohort of 20 patients with oral–facial–digital syndromes negative for mutations and large rearrangements in the OFD1 gene (pages 1846–1849)

      Christel Thauvin-Robinet, Patrick Callier, Brunella Franco, Orsetta Zuffardi, Muriel Payet, Bernard Aral, Nadège Gigot, Anne Donzel, Anne-Laure Mosca-Boidron, Alice Masurel-Paulet, Frédéric Huet, Jean-Raymond Teyssier, Francine Mugneret and Laurence Faivre

      Article first published online: 16 JUL 2009 | DOI: 10.1002/ajmg.a.32981

  9. Research Reviews

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Conference Reports
    6. Invited Comments
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Research Reviews
    11. Book Reviews
    12. Corrigenda
    1. Syndromes of the first and second pharyngeal arches: A review (pages 1853–1859)

      Maria Rita Passos-Bueno, Camila C. Ornelas and Roberto D. Fanganiello

      Article first published online: 16 JUL 2009 | DOI: 10.1002/ajmg.a.32950

    2. The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects (pages 1860–1881)

      Katie M.G. Snape, Deborah Ruddy, Martin Zenker, Wim Wuyts, Margo Whiteford, Diana Johnson, Wayne Lam and Richard C. Trembath

      Article first published online: 16 JUL 2009 | DOI: 10.1002/ajmg.a.32708

  10. Book Reviews

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Conference Reports
    6. Invited Comments
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Research Reviews
    11. Book Reviews
    12. Corrigenda
    1. Book review (pages 1882–1883)

      Ronald G. Davidson

      Article first published online: 16 JUL 2009 | DOI: 10.1002/ajmg.a.32979

  11. Corrigenda

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Conference Reports
    6. Invited Comments
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Research Reviews
    11. Book Reviews
    12. Corrigenda
    1. You have free access to this content
      Cortisol levels in Prader–Willi syndrome support changes and routine care (page 1884)

      Merlin G. Butler, Duane T. Brandau, Mariana Theodoro and Uttam Garg

      Article first published online: 24 JUL 2009 | DOI: 10.1002/ajmg.a.33002

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