American Journal of Medical Genetics Part A

Cover image for Vol. 158A Issue 7

July 2012

Volume 158A, Issue 7

Pages C1–C1, fm i–fm vi, ix–xii, 1523–1813

  1. Cover Image

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. In Memoriams
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Clinical Reports
    11. Correspondence
    12. Book Reviews
    13. Corrigenda
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  2. Table of Contents

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. In Memoriams
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Clinical Reports
    11. Correspondence
    12. Book Reviews
    13. 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. Invited Comments
    6. In Memoriams
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Clinical Reports
    11. Correspondence
    12. Book Reviews
    13. Corrigenda
    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. Invited Comments

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. In Memoriams
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Clinical Reports
    11. Correspondence
    12. Book Reviews
    13. Corrigenda
    1. The Centers for Mendelian Genomics: A new large-scale initiative to identify the genes underlying rare Mendelian conditions (pages 1523–1525)

      Michael J. Bamshad, Jay A. Shendure, David Valle, Ada Hamosh, James R. Lupski, Richard A. Gibbs, Eric Boerwinkle, Richard P. Lifton, Mark Gerstein, Murat Gunel, Shrikant Mane, Deborah A. Nickerson and on behalf of the Centers for Mendelian Genomics

      Version of Record online: 24 MAY 2012 | DOI: 10.1002/ajmg.a.35470

  5. In Memoriams

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

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. In Memoriams
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Clinical Reports
    11. Correspondence
    12. Book Reviews
    13. Corrigenda
    1. Complex genomic rearrangement in the SOX9 5′ region in a patient with Pierre Robin sequence and hypoplastic left scapula (pages 1529–1534)

      Maki Fukami, Takayoshi Tsuchiya, Shuji Takada, Akiko Kanbara, Hiroshi Asahara, Arisa Igarashi, Yasunori Kamiyama, Gen Nishimura and Tsutomu Ogata

      Version of Record online: 23 APR 2012 | DOI: 10.1002/ajmg.a.35308

    2. Three new patients with FATCO: Fibular agenesis with ectrodactyly (pages 1542–1550)

      Tadeusz Bieganski, Aleksander Jamsheer, Anna Sowinska, Dobromila Baranska, Kryspin Niedzielski, Kazimierz Kozlowski and Malwina Czarny-Ratajczak

      Version of Record online: 24 MAY 2012 | DOI: 10.1002/ajmg.a.35369

    3. Hearing loss in skeletal dysplasia patients (pages 1551–1555)

      David Tunkel, Yewande Alade, Richard Kerbavaz, Beth Smith, Danielle Rose-Hardison and Julie Hoover-Fong

      Version of Record online: 24 MAY 2012 | DOI: 10.1002/ajmg.a.35373

    4. Germline mosacism in Shprintzen–Goldberg syndrome (pages 1574–1578)

      Alan L. Shanske, James T. Goodrich, Leena Ala-Kokko, Stuart Baker, Barbara Frederick and Brynn Levy

      Version of Record online: 25 MAY 2012 | DOI: 10.1002/ajmg.a.35388

    5. Definition of a critical genetic interval related to kidney abnormalities in the Potocki–Lupski syndrome (pages 1579–1588)

      Elaine Suk-Ying Goh, Irene C. Perez, Cesar P. Canales, Phillip Ruiz, Ron Agatep, Grace Yoon, David Chitayat, Yigal Dror, Mary Shago, Sharan Goobie, Michael Sgro, Katherina Walz and Roberto Mendoza-Londono

      Version of Record online: 25 MAY 2012 | DOI: 10.1002/ajmg.a.35399

    6. Isodicentric Y chromosomes in Egyptian patients with disorders of sex development (DSD) (pages 1594–1603)

      Mona Mekkawy, Alaa Kamel, Mona El-Ruby, Amal Mohamed, Mona Essawi, Hala Soliman, Nabil Dessouky, Marwa Shehab and Inas Mazen

      Version of Record online: 24 MAY 2012 | DOI: 10.1002/ajmg.a.35487

    7. Proposal of a clinical score for the molecular test for Pitt–Hopkins syndrome (pages 1604–1611)

      Giuseppe Marangi, Stefania Ricciardi, Daniela Orteschi, Romano Tenconi, Matteo Della Monica, Gioacchino Scarano, Domenica Battaglia, Donatella Lettori, Gessica Vasco and Marcella Zollino

      Version of Record online: 7 JUN 2012 | DOI: 10.1002/ajmg.a.35419

    8. Recurrent mutations in the CDKL5 gene: Genotype–phenotype relationships (pages 1612–1619)

      Nadia Bahi-Buisson, Nathalie Villeneuve, Emilie Caietta, Aurélia Jacquette, Helene Maurey, Gert Matthijs, Hilde Van Esch, Andrée Delahaye, Anne Moncla, Mathieu Milh, Flore Zufferey, Bertrand Diebold and Thierry Bienvenu

      Version of Record online: 7 JUN 2012 | DOI: 10.1002/ajmg.a.35401

    9. Studies of TBX4 and chromosome 17q23.1q23.2: An uncommon cause of nonsyndromic clubfoot (pages 1620–1627)

      W. Lu, C.A. Bacino, B.S. Richards, C. Alvarez, J.E. VanderMeer, M. Vella, N. Ahituv, N. Sikka, F.R. Dietz, S.H. Blanton and J.T. Hecht

      Version of Record online: 7 JUN 2012 | DOI: 10.1002/ajmg.a.35418

    10. Scoliosis in Prader–Willi syndrome: Effect of growth hormone therapy and value of paravertebral muscle volume by CT in predicting scoliosis progression (pages 1628–1632)

      Nobuyuki Murakami, Kazuo Obata, Yoshiko Abe, Yuji Oto, Yasuhiro Kido, Hisashi Itabashi, Takayoshi Tsuchiya, Yuriko Tanaka, Atsunori Yoshino and Toshiro Nagai

      Version of Record online: 7 JUN 2012 | DOI: 10.1002/ajmg.a.35429

    11. Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures (pages 1633–1640)

      Gaelle Thierry, Claire Bénéteau, Olivier Pichon, Elisabeth Flori, Bertrand Isidor, Françoise Popelard, Marie-Ange Delrue, Laetitia Duboscq-Bidot, Ann-Charlotte Thuresson, Bregje W.M. van Bon, Dorothée Cailley, Caroline Rooryck, Agathe Paubel, Corinne Metay, Anne Dusser, Laurent Pasquier, Mylène Béri, Céline Bonnet, Sylvie Jaillard, Christèle Dubourg, Bassim Tou, Marie-Pierre Quéré, Cecilia Soussi-Zander, Annick Toutain, Didier Lacombe, Benoit Arveiler, Bert B.A. de Vries, Philippe Jonveaux, Albert David and Cédric Le Caignec

      Version of Record online: 7 JUN 2012 | DOI: 10.1002/ajmg.a.35423

    12. Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis (pages 1654–1661)

      L.K. Davis, N. Maltman, M.W. Mosconi, C. Macmillan, L. Schmitt, K. Moore, S.M. Francis, S. Jacob, J.A. Sweeney and E.H. Cook

      Version of Record online: 7 JUN 2012 | DOI: 10.1002/ajmg.a.35396

    13. Beckwith–Wiedemann syndrome in sibs discordant for IC2 methylation (pages 1662–1669)

      Karen Y. Niederhoffer, Maria Peñaherrera, Denise Pugash, Rosemarie Rupps, Laura Arbour, Francine Tessier, Sanaa Choufani, Chunhua Zhao, Irina Manokhina, Cheryl Shuman, Wendy P. Robinson, Rosanna Weksberg and Cornelius F. Boerkoel

      Version of Record online: 21 MAY 2012 | DOI: 10.1002/ajmg.a.35377

  7. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. In Memoriams
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Clinical Reports
    11. Correspondence
    12. Book Reviews
    13. Corrigenda
    1. Aberrant methylation of H19-DMR acquired after implantation was dissimilar in soma versus placenta of patients with Beckwith–Wiedemann syndrome (pages 1670–1675)

      Ken Higashimoto, Kazuhiko Nakabayashi, Hitomi Yatsuki, Hokuto Yoshinaga, Kosuke Jozaki, Junichiro Okada, Yoriko Watanabe, Aiko Aoki, Arihiro Shiozaki, Shigeru Saito, Kayoko Koide, Tsunehiro Mukai, Kenichiro Hata and Hidenobu Soejima

      Version of Record online: 10 MAY 2012 | DOI: 10.1002/ajmg.a.35335

    2. Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion (pages 1676–1679)

      Maria Leine Guion-Almeida, Antonio Richieri-Costa, Fernanda Sarquis Jehee, Maria Rita Santos Passos-Bueno and Roseli Maria Zechi-Ceide

      Version of Record online: 24 MAY 2012 | DOI: 10.1002/ajmg.a.35351

    3. Saethre–Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7 (pages 1680–1685)

      Roseli Maria Zechi-Ceide, Melina Guerreiro Rodrigues, Fernanda Sarquis Jehee, Nancy Mizue Kokitsu-Nakata, Maria Rita Passos-Bueno and Maria Leine Guion-Almeida

      Version of Record online: 24 MAY 2012 | DOI: 10.1002/ajmg.a.35367

    4. A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family (pages 1686–1689)

      Filiz Hazan, Pia Ostergaard, Taylan Ozturk, Esin Kantekin, Fusun Atlihan, Steve Jeffery and Ferda Ozkinay

      Version of Record online: 31 MAY 2012 | DOI: 10.1002/ajmg.a.35371

    5. Phenotypic progression of skeletal anomalies in CLOVES syndrome (pages 1690–1695)

      Steven Klein, Albert Stroberg, Shahnaz Ghahremani and Julian A. Martinez-Agosto

      Version of Record online: 24 MAY 2012 | DOI: 10.1002/ajmg.a.35383

    6. Interstitial 9q34.11–q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palate (pages 1709–1712)

      Andreas Tzschach, Ute Grasshoff, Karin Schäferhoff, Michael Bonin, Andreas Dufke, Markus Wolff, Karin Haas-Lude, Andrea Bevot and Olaf Riess

      Version of Record online: 25 MAY 2012 | DOI: 10.1002/ajmg.a.35398

    7. Molecular cytogenetic characterization and genotype/phenotype analysis in a patient with a de novo 8p23.2p23.3 deletion/12p13.31p13.33 duplication (pages 1713–1718)

      Lucia Margari, Maria Luisa Di Cosola, Maura Buttiglione, Angela Pansini, Antonia Lucia Buonadonna, Francesco Craig, Filomena Cariola, Maria Giuseppina Petruzzelli and Mattia Gentile

      Version of Record online: 25 MAY 2012 | DOI: 10.1002/ajmg.a.35400

    8. PTEN hamartoma tumor syndrome and Gorham–Stout phenomenon (pages 1719–1723)

      Saskia M.J. Hopman, Rick R. Van Rijn, Charis Eng, Johannes Bras, Marielle Alders, Chantal M. van der Horst, Raoul C.M. Hennekam and Johannes H.M. Merks

      Version of Record online: 24 MAY 2012 | DOI: 10.1002/ajmg.a.35406

    9. Heterozygous tandem duplication within the PTCH1 gene results in nevoid basal cell carcinoma syndrome (pages 1724–1728)

      Rika Kosaki, Kazuaki Nagao, Kohzoh Kameyama, Maiko Suzuki, Katsunori Fujii and Toshiyuki Miyashita

      Version of Record online: 7 JUN 2012 | DOI: 10.1002/ajmg.a.35412

    10. Homozygous SMN1 exons 1–6 deletion: Pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis (pages 1735–1741)

      C. Thauvin-Robinet, S. Drunat, P. Saugier Veber, D. Chantereau, M. Cossée, C. Cassini, P. Soichot, A. Masurel-Paulet, J.V. De Monléon, P. Sagot, F. Huet, M. Antin, N. Calmels, L. Faivre, B. Gérard and le “réseau français de génétique moléculaire”

      Version of Record online: 7 JUN 2012 | DOI: 10.1002/ajmg.a.35402

    11. Severe plexiform facial neurofibromatosis, type 1 with underdeveloped eyes and a novel NF1 mutation (pages 1750–1753)

      Piranit Nik Kantaputra, Ans van den Ouweland, Tumtip Sangruchi and Chanin Limwongse

      Version of Record online: 7 JUN 2012 | DOI: 10.1002/ajmg.a.35422

    12. Progressive polyepiphyseal dysplasia with arthropathy: A distinct disorder from idiopathic juvenile arthritis and pseudorheumatoid dysplasia? (pages 1754–1758)

      Bertrand Isidor, Sylvaine Poignant, Georges Picherot, André Mégabarné, Pierre Quartier, Brigitte Bader-Meunier, Cédric Le Caignec, Martine Le Merrer, Geneviève Baujat, Valérie Cormier-Daire and Albert David

      Version of Record online: 7 JUN 2012 | DOI: 10.1002/ajmg.a.35424

    13. XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication (pages 1759–1764)

      Sharon Moalem, Riyana Babul-Hirji, Dmitri J. Stavropolous, Diane Wherrett, Darius J. Bägli, Paul Thomas and David Chitayat

      Version of Record online: 7 JUN 2012 | DOI: 10.1002/ajmg.a.35390

    14. An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease (pages 1771–1777)

      Shino Shimada, Kazushi Miya, Nozomi Oda, Yuki Watanabe, Tomohiro Kumada, Midori Sugawara, Keiko Shimojima and Toshiyuki Yamamoto

      Version of Record online: 7 JUN 2012 | DOI: 10.1002/ajmg.a.35431

  8. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. In Memoriams
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Clinical Reports
    11. Correspondence
    12. Book Reviews
    13. Corrigenda
    1. Complete trisomy 10p resulting from an extra stable telocentric chromosome (pages 1778–1781)

      Bernarda Lozić, Vida Čulić, Ružica Lasan, Maja Tomasović, Radenka Kuzmanić Šamija and Tatijana Zemunik

      Version of Record online: 24 MAY 2012 | DOI: 10.1002/ajmg.a.35384

    2. RUNX1T1, a chromatin repression protein, is a candidate gene for autosomal dominant intellectual disability (pages 1782–1784)

      Minh Tuan Huynh, Mylène Béri-Dexheimer, Céline Bonnet, Myriam Bronner, Asma Ali Khan, Lila Allou, Christophe Philippe, Jacqueline Vigneron and Philippe Jonveaux

      Version of Record online: 29 MAY 2012 | DOI: 10.1002/ajmg.a.35386

    3. Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association (pages 1785–1787)

      Andrés Hernández-García, Erwin Brosens, Hitisha P. Zaveri, Elisabeth M. de Jong, Zhiyin Yu, Maria Namwanje, Allison Mayle, Caraciolo J. Fernandes, Brendan Lee, Maria Blazo, Seema R. Lalani, Dick Tibboel, Annelies de Klein and Daryl A. Scott

      Version of Record online: 25 MAY 2012 | DOI: 10.1002/ajmg.a.35391

    4. Duplication of 18q21.32–q22.3 identified in a stillborn and two relatives with minimal dysmorphic features (pages 1788–1792)

      Kaylee E. Henson, Karrie A. Hines, David D. Weaver, Wilfredo M. Torres, Jennifer Verbrugge, Kristyne Stone and Gail H. Vance

      Version of Record online: 31 MAY 2012 | DOI: 10.1002/ajmg.a.35405

    5. Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion (pages 1793–1797)

      Elena Cellini, Vittoria Disciglio, Francesca Novara, James A. Barkovich, Maria Antonietta Mencarelli, Joussef Hayek, Alessandra Renieri, Orsetta Zuffardi and Renzo Guerrini

      Version of Record online: 7 JUN 2012 | DOI: 10.1002/ajmg.a.35416

  9. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. In Memoriams
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Clinical Reports
    11. Correspondence
    12. Book Reviews
    13. Corrigenda
    1. Sirenomelia and caudal malformations in two families (pages 1801–1807)

      Marion Gerard, Valérie Layet, Teresa Costa, Yves Roumazeilles, Pierre Chenal, Daniel Cailliez and Bénédicte Gerard

      Version of Record online: 20 APR 2012 | DOI: 10.1002/ajmg.a.35408

  10. Correspondence

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. In Memoriams
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Clinical Reports
    11. Correspondence
    12. Book Reviews
    13. Corrigenda
  11. Book Reviews

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Invited Comments
    6. In Memoriams
    7. Research Articles
    8. Clinical Reports
    9. Research Letters
    10. Clinical Reports
    11. Correspondence
    12. Book Reviews
    13. Corrigenda
  12. Corrigenda

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

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