American Journal of Medical Genetics Part A

Cover image for Vol. 158A Issue 1

January 2012

Volume 158A, Issue 1

Pages C1–C1, fm i–fm v, vii–x, 1–267

  1. Cover Image

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Genetic Drift
    7. Research Articles
    8. Invited Comments
    9. Conference Reports
    10. Research Articles
    11. Research Reviews
    12. Clinical Reports
    13. Research Letters
    14. Correspondence
    15. Corrigenda
    16. 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. Research Articles
    6. Genetic Drift
    7. Research Articles
    8. Invited Comments
    9. Conference Reports
    10. Research Articles
    11. Research Reviews
    12. Clinical Reports
    13. Research Letters
    14. Correspondence
    15. Corrigenda
    16. Errata
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  3. the AJMG SEQUENCE

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Genetic Drift
    7. Research Articles
    8. Invited Comments
    9. Conference Reports
    10. Research Articles
    11. Research Reviews
    12. Clinical Reports
    13. Research Letters
    14. Correspondence
    15. Corrigenda
    16. Errata
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    2. You have free access to this content
    3. You have free access to this content
      In this issue (page x)

      Article first published online: 21 DEC 2011 | DOI: 10.1002/ajmg.a.35200

  4. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Genetic Drift
    7. Research Articles
    8. Invited Comments
    9. Conference Reports
    10. Research Articles
    11. Research Reviews
    12. Clinical Reports
    13. Research Letters
    14. Correspondence
    15. Corrigenda
    16. Errata
  5. Genetic Drift

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Genetic Drift
    7. Research Articles
    8. Invited Comments
    9. Conference Reports
    10. Research Articles
    11. Research Reviews
    12. Clinical Reports
    13. Research Letters
    14. Correspondence
    15. Corrigenda
    16. Errata
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  6. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Genetic Drift
    7. Research Articles
    8. Invited Comments
    9. Conference Reports
    10. Research Articles
    11. Research Reviews
    12. Clinical Reports
    13. Research Letters
    14. Correspondence
    15. Corrigenda
    16. Errata
    1. Medical care of adolescents and women with Rett syndrome: An Italian study (pages 13–18)

      Aglaia Vignoli, Francesca La Briola, Angela Peron, Katherine Turner, Miriam Savini, Francesca Cogliati, Silvia Russo and Maria Paola Canevini

      Article first published online: 2 DEC 2011 | DOI: 10.1002/ajmg.a.34367

  7. Invited Comments

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Genetic Drift
    7. Research Articles
    8. Invited Comments
    9. Conference Reports
    10. Research Articles
    11. Research Reviews
    12. Clinical Reports
    13. Research Letters
    14. Correspondence
    15. Corrigenda
    16. Errata
  8. Conference Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Genetic Drift
    7. Research Articles
    8. Invited Comments
    9. Conference Reports
    10. Research Articles
    11. Research Reviews
    12. Clinical Reports
    13. Research Letters
    14. Correspondence
    15. Corrigenda
    16. Errata
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      Consensus recommendations for current treatments and accelerating clinical trials for patients with neurofibromatosis type 2 (pages 24–41)

      Jaishri O. Blakeley, D. Gareth Evans, John Adler, Derald Brackmann, Ruihong Chen, Rosalie E. Ferner, C. Oliver Hanemann, Gordon Harris, Susan M. Huson, Abraham Jacob, Michel Kalamarides, Matthias A. Karajannis, Bruce R. Korf, Victor-Felix Mautner, Andrea I. McClatchey, Harry Miao, Scott R. Plotkin, William Slattery III, Anat O. Stemmer-Rachamimov, D. Bradley Welling, Patrick Y. Wen, Brigitte Widemann, Kim Hunter-Schaedle and Marco Giovannini

      Article first published online: 2 DEC 2011 | DOI: 10.1002/ajmg.a.34359

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  9. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Genetic Drift
    7. Research Articles
    8. Invited Comments
    9. Conference Reports
    10. Research Articles
    11. Research Reviews
    12. Clinical Reports
    13. Research Letters
    14. Correspondence
    15. Corrigenda
    16. Errata
    1. A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene (pages 50–58)

      Elvera Sofos, Matthew F. Pescosolido, Jose B. Quintos, Dianne Abuelo, Shelly Gunn, Karine Hovanes, Eric M. Morrow and Natasha Shur

      Article first published online: 3 NOV 2011 | DOI: 10.1002/ajmg.a.34290

    2. Auriculo-condylar syndrome. Confronting a diagnostic challenge (pages 59–65)

      Nancy Mizue Kokitsu-Nakata, Roseli Maria Zechi-Ceide, Siulan Vendramini-Pittoli, Vanessa Luiza Romanelli Tavares, Maria Rita Passos-Bueno and Maria Leine Guion-Almeida

      Article first published online: 21 NOV 2011 | DOI: 10.1002/ajmg.a.34337

    3. Regional variation in prevalence of oral cleft live births in the Netherlands 1997–2007: Time-trend analysis of data from three Dutch registries (pages 66–74)

      Anna M. Rozendaal, Ashna D. Mohangoo, Edwin M. Ongkosuwito, Simone E. Buitendijk, Marian K. Bakker and Christl Vermeij-Keers

      Article first published online: 21 NOV 2011 | DOI: 10.1002/ajmg.a.34343

    4. Trends in occurrence of twin births in Japan (pages 75–77)

      Kenji Kurosawa, Mitsuo Masuno and Yoshikazu Kuroki

      Article first published online: 21 NOV 2011 | DOI: 10.1002/ajmg.a.34362

    5. The evaluation of cascade testing for familial hypercholesterolemia (pages 78–84)

      Joan K. Morris, David S. Wald and Nicholas J. Wald

      Article first published online: 2 DEC 2011 | DOI: 10.1002/ajmg.a.34368

    6. Renal anomalies in Alagille syndrome: A disease-defining feature (pages 85–89)

      Binita M. Kamath, Gisele Podkameni, Anne L. Hutchinson, Laura D. Leonard, Jennifer Gerfen, Ian D. Krantz, David A. Piccoli, Nancy B. Spinner, Kathleen M. Loomes and Kevin Meyers

      Article first published online: 21 NOV 2011 | DOI: 10.1002/ajmg.a.34369

    7. Retrospective analysis of the clinical manifestations and survival of Korean patients with mucopolysaccharidosis type II: Emphasis on the cardiovascular complication and mortality cases (pages 90–96)

      Young Bae Sohn, Eun Wha Choi, Su Jin Kim, Sung Won Park, Se-Hwa Kim, Sung-Yoon Cho, Soo In Jeong, June Huh, I-Seok Kang, Heung Jae Lee, Kyung-Hoon Paik and Dong-Kyu Jin

      Article first published online: 21 NOV 2011 | DOI: 10.1002/ajmg.a.34371

    8. MBTPS2 mutation causes BRESEK/BRESHECK syndrome (pages 97–102)

      Misako Naiki, Seiji Mizuno, Kenichiro Yamada, Yasukazu Yamada, Reiko Kimura, Makoto Oshiro, Nobuhiko Okamoto, Yoshio Makita, Mariko Seishima and Nobuaki Wakamatsu

      Article first published online: 21 NOV 2011 | DOI: 10.1002/ajmg.a.34373

    9. Duplication of the ZIC2 gene is not associated with holoprosencephaly (pages 103–108)

      Vaidehi Jobanputra, Alanna Burke, Anyane-Yeboa Kwame, Anita Shanmugham, Maryam Shirazi, Stephen Brown, Peter E. Warburton, Brynn Levy and Dorothy Warburton

      Article first published online: 21 NOV 2011 | DOI: 10.1002/ajmg.a.34375

    10. Spina bifida subtypes and sub-phenotypes by maternal race/ethnicity in the National Birth Defects Prevention Study (pages 109–115)

      A.J. Agopian, Mark A. Canfield, Richard S. Olney, Philip J. Lupo, Tunu Ramadhani, Laura E. Mitchell, Gary M. Shaw, Cynthia A. Moore and the National Birth Defects Prevention Study

      Article first published online: 2 DEC 2011 | DOI: 10.1002/ajmg.a.34383

  10. Research Reviews

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Genetic Drift
    7. Research Articles
    8. Invited Comments
    9. Conference Reports
    10. Research Articles
    11. Research Reviews
    12. Clinical Reports
    13. Research Letters
    14. Correspondence
    15. Corrigenda
    16. Errata
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      Microtia: Epidemiology and genetics (pages 124–139)

      Daniela V. Luquetti, Carrie L. Heike, Anne V. Hing, Michael L. Cunningham and Timothy C. Cox

      Article first published online: 21 NOV 2011 | DOI: 10.1002/ajmg.a.34352

    2. Familial Poland anomaly revisited (pages 140–149)

      Anwar Baban, Michele Torre, Sara Costanzo, Stefania Gimelli, Sebastiano Bianca, Maria Teresa Divizia, Filippo Maria Sénès, Livia Garavelli, Francesca Rivieri, Margherita Lerone, Maura Valle, Roberto Ravazzolo and Maria Grazia Calevo

      Article first published online: 22 NOV 2011 | DOI: 10.1002/ajmg.a.34370

  11. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Genetic Drift
    7. Research Articles
    8. Invited Comments
    9. Conference Reports
    10. Research Articles
    11. Research Reviews
    12. Clinical Reports
    13. Research Letters
    14. Correspondence
    15. Corrigenda
    16. Errata
    1. Array-CGH and clinical characterization in a patient with subtelomeric 6p deletion without ocular dysgenesis (pages 150–154)

      Maria Piccione, R. Antona, E. Salzano, S. Cavani, M. Malacarne, R. Morreale Bubella, M. Pierluigi, C.D. Viaggi and Giovanni Corsello

      Article first published online: 21 NOV 2011 | DOI: 10.1002/ajmg.a.34308

    2. A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2 (pages 166–173)

      Sietske H.G. Kevelam, Jeske J.T. van Harssel, Bert van der Zwaag, Hubertus J.M. Smeets, Aimee D.C. Paulussen and Klaske D. Lichtenbelt

      Article first published online: 21 NOV 2011 | DOI: 10.1002/ajmg.a.34350

    3. Phenotype of FOXP2 haploinsufficiency in a mother and son (pages 174–181)

      Gregory M. Rice, Gordana Raca, Kathy J. Jakielski, Jennifer J. Laffin, Christina M. Iyama-Kurtycz, Sigan L. Hartley, Rae E. Sprague, Anne T. Heintzelman and Lawrence D. Shriberg

      Article first published online: 21 NOV 2011 | DOI: 10.1002/ajmg.a.34354

    4. Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: Expanding the spectrum of Timothy syndrome (pages 182–187)

      Jane Gillis, Elena Burashnikov, Charles Antzelevitch, Susan Blaser, Gil Gross, Lesley Turner, Riyana Babul-Hirji and David Chitayat

      Article first published online: 21 NOV 2011 | DOI: 10.1002/ajmg.a.34355

    5. Split hand-split foot-ectodermal dysplasia and amelogenesis imperfecta with a TP63 mutation (pages 188–192)

      Piranit N. Kantaputra, Oranart Matangkasombut and Warissara Sripathomsawat

      Article first published online: 7 NOV 2011 | DOI: 10.1002/ajmg.a.34356

    6. In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome (pages 193–198)

      Nicole Hoppman-Chaney, Jin Sung Jang, Jin Jen, Dusica Babovic-Vuksanovic and Jennelle C. Hodge

      Article first published online: 21 NOV 2011 | DOI: 10.1002/ajmg.a.34360

    7. Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2) (pages 199–205)

      Hirotomo Saitsu, Hitoshi Osaka, Shirou Sugiyama, Kenji Kurosawa, Takeshi Mizuguchi, Kiyomi Nishiyama, Akira Nishimura, Yoshinori Tsurusaki, Hiroshi Doi, Noriko Miyake, Naoki Harada, Mitsuhiro Kato and Naomichi Matsumoto

      Article first published online: 21 NOV 2011 | DOI: 10.1002/ajmg.a.34363

    8. Recombinant chromosome 7 in a mosaic 45,X/47,XXX patient (pages 206–214)

      Carlos A. Tirado, Garrett Gotway, Emmanuel Torgbe, Santha Iyer, Stephanie Dallaire, Taylor Appleberry, Mohamed Suterwala, Rolando Garcia, Federico Valdez, Sangeeta Patel and Prasad Koduru

      Article first published online: 21 NOV 2011 | DOI: 10.1002/ajmg.a.34364

    9. Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis (pages 215–219)

      Miriam J. Smith, Anjana Kulkarni, Cecilie Rustad, Naomi L. Bowers, Andrew J. Wallace, Susan E. Holder, Arvid Heiberg, Richard T. Ramsden and D. Gareth Evans

      Article first published online: 21 NOV 2011 | DOI: 10.1002/ajmg.a.34376

    10. Jacobsen syndrome due to an unbalanced translocation between 11q23 and 22q11.2 identified at age 40 years (pages 220–223)

      Ikuko Takahashi, Tsutomu Takahashi, Kenichi Sawada, Keiko Shimojima and Toshiyuki Yamamoto

      Article first published online: 2 DEC 2011 | DOI: 10.1002/ajmg.a.34382

    11. SMC1A codon 496 mutations affect the cellular response to genotoxic treatments (pages 224–228)

      Linda Mannini, Stefania Menga, Alessandra Tonelli, Silvia Zanotti, Maria Teresa Bassi, Cinzia Magnani and Antonio Musio

      Article first published online: 2 DEC 2011 | DOI: 10.1002/ajmg.a.34384

    12. A 16q12 microdeletion in a boy with severe psychomotor delay, craniofacial dysmorphism, brain and limb malformations, and a heart defect (pages 229–235)

      Moneef Shoukier, Julia Wickert, Julia Schröder, Iris Bartels, Bernd Auber, Barbara Zoll, Gabriela Salinas-Riester, Dagmar Weise, Knut Brockmann, Birgit Zirn and Peter Burfeind

      Article first published online: 2 DEC 2011 | DOI: 10.1002/ajmg.a.34387

    13. Mild nasal malformations and parietal foramina caused by homozygous ALX4 mutations (pages 236–244)

      Hülya Kayserili, U. Altunoglu, H. Ozgur, S. Basaran and Z.O. Uyguner

      Article first published online: 2 DEC 2011 | DOI: 10.1002/ajmg.a.34390

  12. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Genetic Drift
    7. Research Articles
    8. Invited Comments
    9. Conference Reports
    10. Research Articles
    11. Research Reviews
    12. Clinical Reports
    13. Research Letters
    14. Correspondence
    15. Corrigenda
    16. Errata
    1. Congenital disorder of glycosylation IIa: The trouble with diagnosing a dysmorphic inborn error of metabolism (pages 245–246)

      Anas M. Alazami, Dorota Monies, Brian F. Meyer, Fatema Alzahrani, Mais Hashem, Mustafa A. Salih and Fowzan S. Alkuraya

      Article first published online: 21 NOV 2011 | DOI: 10.1002/ajmg.a.34347

    2. Atypical achondroplasia due to somatic mosaicism for the common thanatophoric dysplasia mutation R248C (pages 247–250)

      Masaki Takagi, Saori Kaneko-Schmitt, Nobuhiro Suzumori, Gen Nishimura and Tomonobu Hasegawa

      Article first published online: 21 NOV 2011 | DOI: 10.1002/ajmg.a.34358

    3. Absence of COCH gene mutations in patients with superior semicircular canal dehiscence (pages 251–253)

      Miguel A. Crovetto, Jaime Whyte, Esther Sarasola, Jose A. Rodriguez and María J. García-Barcina

      Article first published online: 2 DEC 2011 | DOI: 10.1002/ajmg.a.34377

    4. Maternally and paternally inherited deletion of 7q31 involving the FOXP2 gene in two families (pages 254–256)

      O. Žilina, T. Reimand, P. Zjablovskaja, K. Männik, M. Männamaa, A. Traat, H. Puusepp-Benazzouz, A. Kurg and K. Õunap

      Article first published online: 21 NOV 2011 | DOI: 10.1002/ajmg.a.34378

    5. A family of pseudohypoparathyroidism type Ia with an 850-kb submicroscopic deletion encompassing the whole GNAS locus (pages 261–264)

      Toshikatsu Mitsui, Keisuke Nagasaki, Masaki Takagi, Satoshi Narumi, Tomohiro Ishii and Tomonobu Hasegawa

      Article first published online: 2 DEC 2011 | DOI: 10.1002/ajmg.a.34393

  13. Correspondence

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Genetic Drift
    7. Research Articles
    8. Invited Comments
    9. Conference Reports
    10. Research Articles
    11. Research Reviews
    12. Clinical Reports
    13. Research Letters
    14. Correspondence
    15. Corrigenda
    16. Errata
    1. CDKN1C mutations and genital anomalies (page 265)

      Holly I. Welsh, Tracy L. Stockley, Nicole Parkinson and Holly H. Ardinger

      Article first published online: 2 DEC 2011 | DOI: 10.1002/ajmg.a.34388

  14. Corrigenda

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Genetic Drift
    7. Research Articles
    8. Invited Comments
    9. Conference Reports
    10. Research Articles
    11. Research Reviews
    12. Clinical Reports
    13. Research Letters
    14. Correspondence
    15. Corrigenda
    16. Errata
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  15. Errata

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Genetic Drift
    7. Research Articles
    8. Invited Comments
    9. Conference Reports
    10. Research Articles
    11. Research Reviews
    12. Clinical Reports
    13. Research Letters
    14. Correspondence
    15. Corrigenda
    16. Errata
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      Erratam to novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia (page 267)

      Adele Schneider, Tanya Bardakjian, Linda M. Reis, Rebecca C. Tyler and Elena V. Semina

      Article first published online: 21 DEC 2011 | DOI: 10.1002/ajmg.a.34312

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