American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

April 2010

Volume 152A, Issue 4

Pages C1–C1, fm i–fm x, 807–1061

  1. Cover Image

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

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Rapid Publications
    6. New Syndrome
    7. Invited Comments
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Research Reviews
    12. Correspondence
    13. Errata
    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. Rapid Publications
    6. New Syndrome
    7. Invited Comments
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Research Reviews
    12. Correspondence
    13. Errata
    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 fm x)

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33425

  4. Rapid Publications

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Rapid Publications
    6. New Syndrome
    7. Invited Comments
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Research Reviews
    12. Correspondence
    13. Errata
    1. Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: Transmission through four generations (pages 807–814)

      Katherine A. Rauen, William E. Tidyman, Anne L. Estep, Srirangan Sampath, Henry M. Peltier, Sherri J. Bale and Yves Lacassie

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33342

  5. New Syndrome

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

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

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Rapid Publications
    6. New Syndrome
    7. Invited Comments
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Research Reviews
    12. Correspondence
    13. Errata
    1. The phenotype of Floating–Harbor syndrome in 10 patients (pages 821–829)

      Susan M. White, Angela Morgan, Annette Da Costa, Didier Lacombe, Samantha J.L. Knight, Richard Houlston, Margo L. Whiteford, Ruth A. Newbury-Ecob and Jane A. Hurst

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33294

    2. PAX2 mutations in fetal renal hypodysplasia (pages 830–835)

      Jelena Martinovic-Bouriel, Alexandra Benachi, Maryse Bonnière, Nora Brahimi, Chantal Esculpavit, Nicole Morichon, Michel Vekemans, Corinne Antignac, Rémi Salomon, Féréchté Encha-Razavi, Tania Attié-Bitach and Marie-Claire Gubler

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33133

    3. Development of a culturally tailored genetic counseling booklet about hereditary breast and ovarian cancer for Black women (pages 836–845)

      Jennifer Permuth-Wey, Susan Vadaparampil, Alnecia Rumphs, Anita Yeomans Kinney and Tuya Pal

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33187

    4. Identification of susceptibility loci for scoliosis in FIS families with triple curves (pages 846–855)

      Beth Marosy, Cristina M. Justice, Cuong Vu, Andrew Zorn, Nneka Nzegwu, Alexander F. Wilson and Nancy H. Miller

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33222

    5. You have full text access to this OnlineOpen article
      Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy (pages 863–869)

      Gail C. Jackson, Dominique Marcus-Soekarman, Irene Stolte-Dijkstra, Aad Verrips, Jacqueline A. Taylor and Michael D. Briggs

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33240

    6. Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss (pages 870–874)

      Uwe Kornak, Francesco Brancati, Martine Le Merrer, Klaske Lichtenbelt, Wolfgang Höhne, Sigrid Tinschert, Francesco Giuseppe Garaci, Bruno Dallapiccola and Peter Nürnberg

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33301

    7. A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: Report of seven cases (pages 875–885)

      Ok-Hwa Kim, Gen Nishimura, Hae-Ryong Song, Yoshito Matsui, Satoru Sakazume, Masanobu Yamada, Yoko Narumi, Yasemin Alanay, Sheila Unger, Tae-Joon Cho, Sung Sup Park, Shiro Ikegawa, Peter Meinecke and Andrea Superti-Furga

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33347

    8. Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3 (pages 886–895)

      Melissa Leyva-Vega, Jennifer Gerfen, Brian D. Thiel, Dorota Jurkiewicz, Elizabeth B. Rand, Joanna Pawlowska, Diana Kaminska, Pierre Russo, Xiaowu Gai, Ian D. Krantz, Binita M. Kamath, Hakon Hakonarson, Barbara A. Haber and Nancy B. Spinner

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33332

    9. Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations (pages 896–903)

      Shoji Ichikawa, Geneviève Baujat, Aksel Seyahi, Anastasia G. Garoufali, Erik A. Imel, Leah R. Padgett, Anthony M. Austin, Andrea H. Sorenson, Zagorka Pejin, Vicken Topouchian, Pierre Quartier, Valerie Cormier-Daire, Michele Dechaux, Fotini Ch. Malandrinou, Panagiotis N. Singhellakis, Martine Le Merrer and Michael J. Econs

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33337

    10. Clinical and molecular characterization of overlapping interstitial Xp21-p22 duplications in two unrelated individuals (pages 904–915)

      Laura Thorson, Christine Bryke, Gregory Rice, Amber Artzer, Christine Schilz, Jamie Israel, Suzanne Huber, Jennifer Laffin and Gordana Raca

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33340

    11. A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia–evaluation of DSEL as a candidate gene for the diaphragmatic defect (pages 916–923)

      Hatem Zayed, Ryan Chao, Ali Moshrefi, Nelson LopezJimenez, Allen Delaney, Justin Chen, Gary M. Shaw and Anne M. Slavotinek

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33341

    12. Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome (pages 924–929)

      Juan Pié, María Concepción Gil-Rodríguez, Milagros Ciero, Eduardo López-Viñas, María Pilar Ribate, María Arnedo, Matthew A. Deardorff, Beatriz Puisac, Jesús Legarreta, Juan Carlos de Karam, Encarnación Rubio, Inés Bueno, Antonio Baldellou, Mª Teresa Calvo, Nuria Casals, José Luis Olivares, Ana Losada, Fausto G. Hegardt, Ian D. Krantz, Paulino Gómez-Puertas and Feliciano J. Ramos

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33348

    13. Fetal intracranial calcification: Pseudo-TORCH phenotype and discussion of related phenotypes (pages 930–937)

      Akhil Muralidhar Kulkarni, Shankar Baskar, Muralidhar Laxmanrao Kulkarni, Abhishek Jayateerth Kulkarni, Amit Vasanth Mahuli, Suhasini Vittalrao and Preethi Muralidar Kulkarni

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33358

    14. Familial Aicardi–Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures (pages 938–942)

      Russell C. Dale, Hannah Gornall, Davinder Singh-Grewal, Melanie Alcausin, Gillian I. Rice and Yanick J. Crow

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33359

    15. New subtype of familial intracranial calcification in a mother and two children (pages 943–946)

      Mahmoud F. Elsaid, Yanick J. Crow, John H. Livingston and Tawfeg Ben-Omran

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33360

  8. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Rapid Publications
    6. New Syndrome
    7. Invited Comments
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Research Reviews
    12. Correspondence
    13. Errata
    1. A second patient with Tsukahara syndrome: Type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis (pages 947–949)

      Gülen Eda Utine, Jeroen Breckpot, Bernard Thienpont, Yasemin Alanay, Cemalettin Aksoy, Koray Boduroğlu and Koenraad Devriendt

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33325

    2. Microdeletion of the Down syndrome critical region at 21q22 (pages 950–953)

      Hideki Fujita, Chiharu Torii, Rika Kosaki, Shinya Yamaguchi, Jun Kudoh, Kumiko Hayashi, Takao Takahashi and Kenjiro Kosaki

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33228

    3. Periventricular nodular heterotopia and distal limb deficiency: A recurrent association (pages 954–959)

      Marie Claire Y. de Wit, Irenaeus F.M. de Coo, Rachel Schot, A. Jeannette M. Hoogeboom, Maarten H. Lequin, Annemieke J.M.H. Verkerk and Grazia M.S. Mancini

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33258

    4. Majewski Osteodysplastic Primordial Dwarfism Type II (MOPD II): Expanding the vascular phenotype (pages 960–965)

      Michael B. Bober, Nadia Khan, Jennifer Kaplan, Kristi Lewis, Jeffrey A. Feinstein, Charles I. Scott Jr. and Gary K. Steinberg

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33252

    5. A recurrence of a hydrop lethal skeletal dysplasia showing similarity to Desbuquois dysplasia and a proposed new sign: The Upsilon sign (pages 966–969)

      Gareth Baynam, Cathy Kiraly-Borri, Jack Goldblatt, Jan E. Dickinson, Gareth P. Jevon and Angela Overkov

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33264

    6. Lipedema: An inherited condition (pages 970–976)

      Anne H. Child, Kristiana D. Gordon, Pip Sharpe, Glen Brice, Pia Ostergaard, Steve Jeffery and Peter S. Mortimer

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33313

    7. Longitudinal observation of a patient with Rieger syndrome and interstitial deletion 4 (q25–q31.1) (pages 977–981)

      Lilia Moreira, Albert Schinzel, Alessandra Baumer, Paula Pinto, Fátima Góes, Maria de Lourdes Falcão, Ana Luiza Barbosa and Mariluce Riegel

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33322

    8. RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome (pages 982–986)

      Jean-Luc Alessandri, Nathalie Dagoneau, Jean-Marc Laville, Julien Baruteau, Jean-Christophe Hébert and Valérie Cormier-Daire

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33327

    9. Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype–genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome (pages 987–993)

      Isabel Filges, Benno Röthlisberger, Nemya Boesch, Peter Weber, Friedel Wenzel, Andreas R. Huber, Karl Heinimann and Peter Miny

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33330

    10. Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome (pages 994–999)

      Judith Reiber, Yves Sznajer, Elena Guillén Posteguillo, Dietmar Müller, Stanislas Lyonnet, Clarisse Baumann and Walter Just

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33331

    11. A tale of two deletions: A report of two novel 20p13 [RIGHTWARDS ARROW] pter deletions (pages 1000–1007)

      Anna K. McGill, Matthew T. Pastore, Gail E. Herman, Sarah Alliman, Jill A. Rosenfeld and David D. Weaver

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33339

    12. Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement (pages 1008–1012)

      Andreas Tzschach, Corinna Menzel, Fikret Erdogan, Erman Salih Istifli, Martin Rieger, Angela Ovens-Raeder, Alfons Macke, Hans-Hilger Ropers, Reinhard Ullmann and Vera Kalscheuer

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33343

    13. Further delineation of the Kapur–Toriello syndrome (pages 1013–1015)

      Nathaniel H. Robin, Katherine D. Rutledge, Peter D. Ray and John H. Grant

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33349

    14. Germline TGF-β receptor mutations and skeletal fragility: A report on two patients with Loeys–Dietz syndrome (pages 1016–1019)

      Salman Kirmani, Peter J. Tebben, Aida N. Lteif, David Gordon, Bart L. Clarke, Theresa E. Hefferan, Michael J. Yaszemski, Pamela S. McGrann, Noralane M. Lindor and Jay W. Ellison

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33356

    15. Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3 including ITGB6 (pages 1020–1025)

      Shinichi Takatsuki, Rina Nakamura, Youichi Haga, Kazumasa Mitsui, Takuji Hashimoto, Keiko Shimojima, Tsutomu Saji and Toshiyuki Yamamoto

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33362

  9. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Rapid Publications
    6. New Syndrome
    7. Invited Comments
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Research Reviews
    12. Correspondence
    13. Errata
    1. 3C syndrome (pages 1026–1027)

      Emily Craft, Catherine E. Wildig and Yanick J. Crow

      Version of Record online: 5 JUN 2009 | DOI: 10.1002/ajmg.a.32820

    2. Interstitial microdeletion of 4p16.3: Contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf–Hirschhorn syndrome (pages 1028–1032)

      Kosuke Izumi, Hironobu Okuno, Katsuhiro Maeyama, Seiji Sato, Toshiyuki Yamamoto, Chiharu Torii, Rika Kosaki, Takao Takahashi and Kenjiro Kosaki

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33121

    3. Transverse limb defect in a patient with Jacobsen syndrome: Concurrence of malformation and disruption (pages 1033–1035)

      Hideki Fujita, Tadahiro Yanagi, Rika Kosaki, Chiharu Torii, Masahiro Bamba, Takao Takahashi and Kenjiro Kosaki

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33151

    4. Rubinstein–Taybi syndrome in first cousins with different de novo mutations (pages 1036–1038)

      Sevim Balci, Mehmet Ali Ergün, Stanislav Lechno and Oliver Bartsch

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33259

    5. A patient with Duchenne muscular dystrophy and autism demonstrates a hemizygous deletion affecting Dystrophin (pages 1039–1042)

      Ozdem Erturk, Kaya Bilguvar, Baris Korkmaz, Yasar Bayri, Fatih Bayrakli, Zulfikar Arlier, Ali K. Ozturk, Cengiz Yalcinkaya, Beyhan Tuysuz, Matthew W. State and Murat Gunel

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33312

    6. A tandem duplication of chromosome 21 in a newborn showing a phenotype inconsistent with Down syndrome (pages 1043–1045)

      Emanuela Martinoli, Gian Vincenzo Zuccotti, Laura Pogliani, Marinella Volontè, Marco Venturin, Paolo Fortina, Adam Ertel, Serena Redaelli, Paola Riva and Leda Dalprà

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33335

    7. 18q22.3 [RIGHTWARDS ARROW] 18q23 deletion syndrome and cleft palate (pages 1046–1048)

      James D. Eudy, Diane L. Pickering, Richard Lutz, Kristal Platt, Bhavana J. Dave, Ann Haskins Olney and Warren G. Sanger

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33336

  10. Research Reviews

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Rapid Publications
    6. New Syndrome
    7. Invited Comments
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Research Reviews
    12. Correspondence
    13. Errata
    1. Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findings (pages 1049–1058)

      Astrid S. Plomp, Johan Toonstra, Arthur A.B. Bergen, Marijke R. van Dijk and Paulus T.V.M. de Jong

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33329

  11. Correspondence

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Rapid Publications
    6. New Syndrome
    7. Invited Comments
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Research Reviews
    12. Correspondence
    13. Errata
    1. 3p deletion and (skewed) literature review (page 1059)

      Horacio Rivera

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33149

    2. Reply to 3p deletion and (skewed) literature review (page 1060)

      Thomas V. Fernandez, Matthew W. State and Nory O. Davalos-Rodriguez

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33150

  12. Errata

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Rapid Publications
    6. New Syndrome
    7. Invited Comments
    8. Research Articles
    9. Clinical Reports
    10. Research Letters
    11. Research Reviews
    12. Correspondence
    13. Errata
    1. You have free access to this content
      The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia (page 1061)

      David P. Dimmock, Pamela Trapane, Annette Feigenbaum, Catherine E. Keegan, Stephen Cederbaum, James Gibson, Michael J. Gambello, Keith Vaux, Patricia Ward, William E. O'Brien and Ping Fang

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/ajmg.a.33256

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