American Journal of Medical Genetics Part A

Cover image for Vol. 161 Issue 8

August 2013

Volume 161, Issue 8

Pages C1–C1, fm i–fm vi, ix–xii, 1829–2116

  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. Research Letter
    8. Genetic Drift
    9. Clinical Reports
    10. Invited Comment
    11. Research Letters
    12. 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. New Syndrome
    6. Research Articles
    7. Research Letter
    8. Genetic Drift
    9. Clinical Reports
    10. Invited Comment
    11. Research Letters
    12. 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. New Syndrome
    6. Research Articles
    7. Research Letter
    8. Genetic Drift
    9. Clinical Reports
    10. Invited Comment
    11. Research Letters
    12. Correspondence
    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. You have free access to this content
      In this issue (page xii)

      Version of Record online: 24 JUL 2013 | DOI: 10.1002/ajmg.a.36138

  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. Research Letter
    8. Genetic Drift
    9. Clinical Reports
    10. Invited Comment
    11. Research Letters
    12. Correspondence
    1. Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: A new syndrome? (pages 1829–1832)

      Bertrand Isidor, Guylène Le Meur, Carole Conti, Emmanuelle Caldagues, Elodie Lainey, Elise Launay, Marc David Leclair, Thomas Le Francois, Olivier Pichon, Pierre Boisseau, Audrey Migraine, Boris Keren, Cédric Le Caignec, Yanick J Crow and Albert David

      Version of Record online: 3 JUL 2013 | DOI: 10.1002/ajmg.a.36021

  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. Research Letter
    8. Genetic Drift
    9. Clinical Reports
    10. Invited Comment
    11. Research Letters
    12. Correspondence
    1. The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes (pages 1833–1852)

      Cynthia J. Curry, Jill A. Rosenfeld, Erica Grant, Karen W. Gripp, Carol Anderson, Arthur S. Aylsworth, Taha Ben Saad, Victor V. Chizhikov, Giedre Dybose, Christina Fagerberg, Michelle Falco, Christina Fels, Marco Fichera, Jesper Graakjaer, Donatella Greco, Jennifer Hair, Elizabeth Hopkins, Marlene Huggins, Roger Ladda, Chumei Li, John Moeschler, Malgorzata J.M. Nowaczyk, Jillian R. Ozmore, Santina Reitano, Corrado Romano, Laura Roos, Rhonda E. Schnur, Susan Sell, Pim Suwannarat, Dea Svaneby, Marta Szybowska, Mark Tarnopolsky, Raymond Tervo, Anne Chun-Hui Tsai, Megan Tucker, Stephanie Vallee, Ferrin C Wheeler, Dina J. Zand, A. James Barkovich, Swaroop Aradhya, Lisa G. Shaffer and William B. Dobyns

      Version of Record online: 27 JUN 2013 | DOI: 10.1002/ajmg.a.35996

    2. Further delineation of genotype–phenotype correlation in homozygous 2p21 deletion syndromes: First description of patients without cystinuria (pages 1853–1859)

      Deborah Bartholdi, Reza Asadollahi, Beatrice Oneda, Thomas Schmitt-Mechelke, Paolo Tonella, Alessandra Baumer and Anita Rauch

      Version of Record online: 21 JUN 2013 | DOI: 10.1002/ajmg.a.35994

    3. Altered lipid metabolism in gastroschisis: A novel hypothesis (pages 1860–1865)

      Kenneth Lyons Jones, Lauren A. Weiss, Lee R. Hagey, Vanessa Gonzalez, Kurt Benirschke and Christina D. Chambers

      Version of Record online: 21 JUN 2013 | DOI: 10.1002/ajmg.a.36002

    4. Non-trisomic homeobox gene expression during craniofacial development in the Ts65Dn mouse model of Down syndrome (pages 1866–1874)

      Cherie N. Billingsley, Jared R. Allen, Douglas D. Baumann, Samantha L. Deitz, Joshua D. Blazek, Abby Newbauer, Andrew Darrah, Brad C. Long, Brandon Young, Mark Clement, R.W. Doerge and Randall J. Roper

      Version of Record online: 10 JUL 2013 | DOI: 10.1002/ajmg.a.36006

    5. Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I (pages 1875–1881)

      Ghada M.H. Abdel-Salam, Mohamed S. Abdel-Hamid, Nihal A. Hassan, Mahmoud Y. Issa, Laila Effat, Samira Ismail, Mona S. Aglan and Maha S. Zaki

      Version of Record online: 21 JUN 2013 | DOI: 10.1002/ajmg.a.36009

    6. 9p partial monosomy and disorders of sex development: Review and postulation of a pathogenetic mechanism (pages 1882–1896)

      Shane C. Quinonez, John M. Park, Raja Rabah, Kailey M. Owens, Beverly M. Yashar, Thomas W. Glover and Catherine E. Keegan

      Version of Record online: 3 JUL 2013 | DOI: 10.1002/ajmg.a.36018

    7. High MMP-9 activity levels in fragile X syndrome are lowered by minocycline (pages 1897–1903)

      Magdalena Dziembowska, Dalyir I. Pretto, Aleksandra Janusz, Leszek Kaczmarek, Mary Jacena Leigh, Nielsen Gabriel, Blythe Durbin-Johnson, Randi J. Hagerman and Flora Tassone

      Version of Record online: 3 JUL 2013 | DOI: 10.1002/ajmg.a.36023

    8. A unique case of de novo 5q33.3–q34 triplication with uniparental isodisomy of 5q34–qter (pages 1904–1909)

      Atsushi Fujita, Hiroshi Suzumura, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Saitsu, Naoki Harada, Naomichi Matsumoto and Noriko Miyake

      Version of Record online: 4 JUL 2013 | DOI: 10.1002/ajmg.a.36026

    9. Increased fracture risk and low bone mineral density in patients with loeys–dietz syndrome (pages 1910–1914)

      Eric W. Tan, Roosevelt U. Offoha, Gretchen L. Oswald, Richard L. Skolasky, Ashvin K. Dewan, Gehua Zhen, Jay R. Shapiro, Harry C. Dietz, Xu Cao and Paul D. Sponseller

      Version of Record online: 4 JUL 2013 | DOI: 10.1002/ajmg.a.36029

    10. A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family (pages 1915–1922)

      Lucia Püttmann, Henning Stehr, Masoud Garshasbi, Hao Hu, Kimia Kahrizi, Bettina Lipkowitz, Payman Jamali, Andreas Tzschach, Hossein Najmabadi, Hans-Hilger Ropers, Luciana Musante and Andreas W. Kuss

      Version of Record online: 4 JUL 2013 | DOI: 10.1002/ajmg.a.36030

    11. Insertional translocation leading to a 4q13 duplication including the EPHA5 gene in two siblings with attention-deficit hyperactivity disorder (pages 1923–1928)

      Eunice Matoso, Joana B. Melo, Susana I. Ferreira, Ana Jardim, Teresa M. Castelo, Anja Weise and Isabel M. Carreira

      Version of Record online: 4 JUL 2013 | DOI: 10.1002/ajmg.a.36032

    12. Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy (pages 1929–1939)

      Jennifer M. Kalish, Laura K. Conlin, Tricia R. Bhatti, Holly A. Dubbs, Mary Catherine Harris, Kosuke Izumi, Sogol Mostoufi-Moab, Surabhi Mulchandani, Sulagna Saitta, Lisa J. States, Daniel T. Swarr, Alisha B. Wilkens, Elaine H. Zackai, Kristin Zelley, Marisa S. Bartolomei, Kim E. Nichols, Andrew A. Palladino, Nancy B. Spinner and Matthew A. Deardorff

      Version of Record online: 26 JUN 2013 | DOI: 10.1002/ajmg.a.36045

    13. Orthopedic manifestations and implications for individuals with Costello syndrome (pages 1940–1949)

      Stacey Detweiler, Mihir M. Thacker, Elizabeth Hopkins, Laura Conway and Karen W. Gripp

      Version of Record online: 27 JUN 2013 | DOI: 10.1002/ajmg.a.36047

    14. Customized high resolution CGH-array for clinical diagnosis reveals additional genomic imbalances in previous well-defined pathological samples (pages 1950–1960)

      Elena Vallespín, María Palomares Bralo, M. Ángeles Mori, Rubén Martín, Sixto García-Miñaúr, Luis Fernández, M. Luisa de Torres, Fe García-Santiago, Elena Mansilla, Fernando Santos, Victoria E. M-Montaño, M. Carmen Crespo, Sol Martín, Victor Martínez-Glez, Alicia Delicado, Pablo Lapunzina and Julián Nevado

      Version of Record online: 24 JUN 2013 | DOI: 10.1002/ajmg.a.35960

    15. An allelic series of Trp63 mutations defines TAp63 as a modifier of EEC syndrome (pages 1961–1971)

      Emma Vernersson Lindahl, Elvin L. Garcia and Alea A. Mills

      Version of Record online: 14 JUN 2013 | DOI: 10.1002/ajmg.a.36074

    16. Osteogenesis imperfecta type V: Clinical and radiographic manifestations in mutation confirmed patients (pages 1972–1979)

      Ok-Hwa Kim, Dong-Kyu Jin, Keisuke Kosaki, Jung-Wook Kim, Sung Yoon Cho, Won Joon Yoo, In Ho Choi, Gen Nishimura, Shiro Ikegawa and Tae-Joon Cho

      Version of Record online: 26 JUN 2013 | DOI: 10.1002/ajmg.a.36024

  6. Research Letter

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Research Letter
    8. Genetic Drift
    9. Clinical Reports
    10. Invited Comment
    11. Research Letters
    12. Correspondence
    1. A recurrent mutation in the 5′-UTR of IFITM5 causes osteogenesis imperfecta type V (pages 1980–1982)

      Masaki Takagi, Shuhei Sato, Keiichi Hara, Chihiro Tani, Osamu Miyazaki, Gen Nishimura and Tomonobu Hasegawa

      Version of Record online: 27 JUN 2013 | DOI: 10.1002/ajmg.a.36025

  7. Genetic Drift

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Research Letter
    8. Genetic Drift
    9. Clinical Reports
    10. Invited Comment
    11. Research Letters
    12. Correspondence
  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. Research Letter
    8. Genetic Drift
    9. Clinical Reports
    10. Invited Comment
    11. Research Letters
    12. Correspondence
    1. Oculo-auriculo-vertebral spectrum, cat eye, and distal 22q11 microdeletion syndromes: A unique double rearrangement (pages 1992–1998)

      Erin E. Torti, Stephen R. Braddock, Kristen Bernreuter and Jacqueline R. Batanian

      Version of Record online: 24 JUL 2013 | DOI: 10.1002/ajmg.a.35918

    2. Richieri-costa and Pereira syndrome: Severe phenotype (pages 1999–2003)

      Salmo Raskin, Marcela Souza, Mariana C. Medeiros, Mayra Manfron and Debora C. Chong e Silva

      Version of Record online: 21 JUN 2013 | DOI: 10.1002/ajmg.a.35989

    3. Another patient with 12q13 microduplication (pages 2004–2008)

      M. Bertoli, V. Alesi, F. Gullotta, S. Zampatti, M.R. Abate, C. Palmieri, A. Novelli, M. Frontali and A. M. Nardone

      Version of Record online: 3 JUL 2013 | DOI: 10.1002/ajmg.a.35991

    4. Interstitial 6q microdeletion syndrome and epilepsy: A new patient and review of the literature (pages 2009–2015)

      Aglaia Vignoli, Giulia Federica Scornavacca, Angela Peron, Francesca La Briola and Maria Paola Canevini

      Version of Record online: 21 JUN 2013 | DOI: 10.1002/ajmg.a.35993

    5. Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44 (pages 2016–2019)

      David Wang, Susan Zeesman, Mark A. Tarnopolsky and Małgorzata J.M. Nowaczyk

      Version of Record online: 21 JUN 2013 | DOI: 10.1002/ajmg.a.35999

    6. Severe infantile leigh syndrome associated with a rare mitochondrial ND6 mutation, m.14487T>C (pages 2020–2023)

      Mark Tarnopolsky, Brandon Meaney, Brian Robinson, Katherine Sheldon and Richard G. Boles

      Version of Record online: 27 JUN 2013 | DOI: 10.1002/ajmg.a.36000

    7. Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation (pages 2027–2029)

      Julia Rankin, John Short, Peter Turnpenny, Bruce Castle and C. Oliver Hanemann

      Version of Record online: 27 JUN 2013 | DOI: 10.1002/ajmg.a.36005

    8. Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication (pages 2030–2035)

      Maria Juliana Ballesta-Martínez, Vanesa López-González, Lluis Armengol Dulcet, Benjamín Rodríguez-Santiago, Sixto Garcia-Miñaúr and Encarna Guillen-Navarro

      Version of Record online: 21 JUN 2013 | DOI: 10.1002/ajmg.a.36007

    9. Myoclonic epilepsy in a child with 17q22–q23.1 deletion (pages 2036–2039)

      Antonietta Coppola, Anna Tostevin, Amy McTague, Ronit M. Pressler, J. Helen Cross and Sanjay M. Sisodiya

      Version of Record online: 21 JUN 2013 | DOI: 10.1002/ajmg.a.36010

    10. You have full text access to this OnlineOpen article
      A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with marfan and loeys–dietz syndrome (pages 2040–2046)

      Hugh Young Rienhoff Jr., Chang-Yeol Yeo, Rachel Morissette, Irina Khrebtukova, Jonathan Melnick, Shujun Luo, Nan Leng, Yeon-Jin Kim, Gary Schroth, John Westwick, Hannes Vogel, Nazli McDonnell, Judith G. Hall and Malcolm Whitman

      Version of Record online: 3 JUL 2013 | DOI: 10.1002/ajmg.a.36056

    11. Juvenile idiopathic arthritis, mitral valve prolapse and a familial variant involving the integrin-binding fragment of FBN1 (pages 2047–2051)

      Brian T. Wilson, Sacha A. Jensen, Ciaron P. McAnulty, Paul Brennan and Penny A. Handford

      Version of Record online: 21 JUN 2013 | DOI: 10.1002/ajmg.a.36011

    12. Evaluating the frequency and characteristics of seizures in 142 Japanese patients with prader–willi syndrome (pages 2052–2055)

      Eri Takeshita, Nobuyuki Murakami, Ryoichi Sakuta and Toshiro Nagai

      Version of Record online: 3 JUL 2013 | DOI: 10.1002/ajmg.a.36015

    13. You have full text access to this OnlineOpen article
      Confirmation of GRHL2 as the gene for the DFNA28 locus (pages 2060–2065)

      Barbara Vona, Indrajit Nanda, Cordula Neuner, Tobias Müller and Prof. Thomas Haaf

      Version of Record online: 27 JUN 2013 | DOI: 10.1002/ajmg.a.36017

    14. Pelger–huet anomaly and a mild skeletal phenotype secondary to mutations in LBR (pages 2066–2073)

      Lior Borovik, Peggy Modaff, Hans R. Waterham, Anthony D. Krentz and Richard M. Pauli

      Version of Record online: 3 JUL 2013 | DOI: 10.1002/ajmg.a.36019

    15. Microdeletions of 5.5 Mb (4q13.2–q13.3) and 4.1 Mb (7p15.3–p21.1) associated with a saethre–chotzen-like phenotype, severe intellectual disability, and autism (pages 2078–2083)

      Shino Shimada, Nobuhiko Okamoto, Shohei Nomura, Miho Fukui, Shuichi Shimakawa, Noriko Sangu, Keiko Shimojima, Makiko Osawa and Toshiyuki Yamamoto

      Version of Record online: 4 JUL 2013 | DOI: 10.1002/ajmg.a.36027

    16. Homozygous deletion in TUSC3 causing syndromic intellectual disability: A new patient (pages 2084–2087)

      Sara Loddo, Valentina Parisi, Viola Doccini, Tiziana Filippi, Laura Bernardini, Paola Brovedani, Federica Ricci, Antonio Novelli and Agatino Battaglia

      Version of Record online: 4 JUL 2013 | DOI: 10.1002/ajmg.a.36028

  9. Invited Comment

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Research Letter
    8. Genetic Drift
    9. Clinical Reports
    10. Invited Comment
    11. Research Letters
    12. Correspondence
    1. Risk terminology in biobanking and genetic research: What's in a name? (pages 2095–2098)

      Gwendolyn P. Quinn, Heide Castañeda, Tuya Pal, Janique L. Rice, Cathy D. Meade and Clement K. Gwede

      Version of Record online: 3 JUL 2013 | DOI: 10.1002/ajmg.a.36069

  10. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Research Letter
    8. Genetic Drift
    9. Clinical Reports
    10. Invited Comment
    11. Research Letters
    12. Correspondence
    1. You have full text access to this OnlineOpen article
      Empirical research on the ethics of genomic research (pages 2099–2101)

      Anna Middleton, Michael Parker, Caroline F. Wright, Eugene Bragin, Matthew E. Hurles and on behalf of the DDD Study

      Version of Record online: 27 JUN 2013 | DOI: 10.1002/ajmg.a.36067

    2. GAPO syndrome associated with vestibular dysfunction and hearing loss (pages 2102–2104)

      M. Rapsomaniki, G. Chiarella, I. Mascaro, F. Ceravolo, E. Cassandro, P. Strisciuglio and D. Concolino

      Version of Record online: 21 JUN 2013 | DOI: 10.1002/ajmg.a.35992

    3. Adrenal hypoplasia congenita with phenotypic features suggestive of neurofibromatosis type 1 among three African-American brothers (pages 2105–2107)

      Pinar Gumus Balikcioglu, Ricardo Gómez, Alfonso Vargas, Swaroop Aradhya, Ludwine M. Messiaen and Yves Lacassie

      Version of Record online: 4 JUL 2013 | DOI: 10.1002/ajmg.a.36031

  11. Correspondence

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. New Syndrome
    6. Research Articles
    7. Research Letter
    8. Genetic Drift
    9. Clinical Reports
    10. Invited Comment
    11. Research Letters
    12. Correspondence
    1. You have free access to this content
      Body mass index (BMI): The case for condition-specific cut-offs for overweight and obesity in skeletal dysplasias (pages 2110–2112)

      Kerry J. Schulze, Yewande Adekemi Alade, John McGready and Julie E. Hoover-Fong

      Version of Record online: 24 JUN 2013 | DOI: 10.1002/ajmg.a.35947

    2. You have free access to this content
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