American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

September 2011

Volume 155, Issue 9

Pages C1–C1, fm i–fm vi, ix–xii, 2045–2334

  1. Cover Image

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

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

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. New Syndrome
    7. Invited Comments
    8. Research Articles
    9. Invited Comments
    10. Clinical Reports
    11. Genetic Drift
    12. Conference Report
    13. Research Articles
    14. Clinical Reports
    15. Research Letters
    16. Correspondence
    1. You have free access to this content
      A new autosomal dominant syndrome of distinctive face showing ptosis and prominent eyes associated with cleft palate, ear anomalies, and learning disability (pages 2060–2065)

      N. Tyshchenko, T.M. Neuhann, E. Gerlach, G. Hahn, K. Heisch, A. Rump, E. Schrock, S. Tinschert and K. Hackmann

      Article first published online: 10 AUG 2011 | DOI: 10.1002/ajmg.a.34159

  6. Invited Comments

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

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. New Syndrome
    7. Invited Comments
    8. Research Articles
    9. Invited Comments
    10. Clinical Reports
    11. Genetic Drift
    12. Conference Report
    13. Research Articles
    14. Clinical Reports
    15. Research Letters
    16. Correspondence
    1. Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria (pages 2071–2077)

      David R. Murdock, Gary D. Clark, Matthew N. Bainbridge, Irene Newsham, Yuan-Qing Wu, Donna M. Muzny, Sau Wai Cheung, Richard A. Gibbs and Melissa B. Ramocki

      Article first published online: 10 AUG 2011 | DOI: 10.1002/ajmg.a.34165

  8. Invited Comments

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

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. New Syndrome
    7. Invited Comments
    8. Research Articles
    9. Invited Comments
    10. Clinical Reports
    11. Genetic Drift
    12. Conference Report
    13. Research Articles
    14. Clinical Reports
    15. Research Letters
    16. Correspondence
    1. You have free access to this content
      The microcephaly-capillary malformation syndrome (pages 2080–2087)

      Ghayda M. Mirzaa, Alex R. Paciorkowski, Christopher D. Smyser, Marcia C. Willing, Anne C. Lind and William B. Dobyns

      Article first published online: 3 AUG 2011 | DOI: 10.1002/ajmg.a.34118

  10. Genetic Drift

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

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. New Syndrome
    7. Invited Comments
    8. Research Articles
    9. Invited Comments
    10. Clinical Reports
    11. Genetic Drift
    12. Conference Report
    13. Research Articles
    14. Clinical Reports
    15. Research Letters
    16. Correspondence
    1. You have free access to this content
      Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS) (pages 2091–2097)

      Alanna F. Bree, Maulik R. Shah and for the BCNS Colloquium Group

      Article first published online: 10 AUG 2011 | DOI: 10.1002/ajmg.a.34128

  12. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. New Syndrome
    7. Invited Comments
    8. Research Articles
    9. Invited Comments
    10. Clinical Reports
    11. Genetic Drift
    12. Conference Report
    13. Research Articles
    14. Clinical Reports
    15. Research Letters
    16. Correspondence
    1. Features of basal cell carcinomas in basal cell nevus syndrome (pages 2098–2104)

      Wynnis L. Tom, M. Yadira Hurley, Dana S. Oliver, Maulik R. Shah and Alanna F. Bree

      Article first published online: 10 AUG 2011 | DOI: 10.1002/ajmg.a.34127

    2. Adults with Sotos syndrome: Review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person (pages 2105–2111)

      Matthew R. Fickie, Pablo Lapunzina, Jennifer K. Gentile, Nina Tolkoff-Rubin, Daniela Kroshinsky, Enrique Galan, Esther Gean, Loreto Martorell, Valeria Romanelli, Joaquín Fernandez Toral and Angela E. Lin

      Article first published online: 10 AUG 2011 | DOI: 10.1002/ajmg.a.34156

    3. Physical health problems in adults with Prader–Willi syndrome (pages 2112–2124)

      Margje Sinnema, Marian A. Maaskant, Henny M.J. van Schrojenstein Lantman-de Valk, I. Caroline van Nieuwpoort, Madeleine L. Drent, Leopold M.G. Curfs and Constance T.R.M. Schrander-Stumpel

      Article first published online: 10 AUG 2011 | DOI: 10.1002/ajmg.a.34171

    4. Autosomal dominant inheritance of a predisposition to thoracic aortic aneurysms and dissections and intracranial saccular aneurysms (pages 2125–2130)

      Ellen Regalado, Sarah Medrek, Van Tran-Fadulu, Dong-Chuan Guo, Hariyadarshi Pannu, Hossein Golabbakhsh, Suzanne Smart, Julia H. Chen, Sanjay Shete, Dong H. Kim, Ralph Stern, Alan C. Braverman and Dianna M. Milewicz

      Article first published online: 3 AUG 2011 | DOI: 10.1002/ajmg.a.34050

    5. Maternal age and prevalence of isolated congenital heart defects in an urban area of the United States (pages 2137–2145)

      Assia Miller, Tiffany Riehle-Colarusso, Csaba Siffel, Jaime L. Frías and Adolfo Correa

      Article first published online: 3 AUG 2011 | DOI: 10.1002/ajmg.a.34130

    6. Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature (pages 2146–2153)

      Lynn Dukes-Rimsky, Gregory F. Guzauskas, Kenton R. Holden, Rachel Griggs, Sydney Ladd, Maria del Carmen Montoya, Barbara R. DuPont and Anand K. Srivastava

      Article first published online: 10 AUG 2011 | DOI: 10.1002/ajmg.a.34137

    7. Automated syndrome detection in a set of clinical facial photographs (pages 2161–2169)

      Stefan Boehringer, Manuel Guenther, Stella Sinigerova, Rolf P. Wurtz, Bernhard Horsthemke and Dagmar Wieczorek

      Article first published online: 3 AUG 2011 | DOI: 10.1002/ajmg.a.34157

    8. Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot (pages 2170–2179)

      Katelyn S. Weymouth, Susan H. Blanton, Michael J. Bamshad, Anita E. Beck, Christine Alvarez, Steve Richards, Christina A. Gurnett, Matthew B. Dobbs, Douglas Barnes, Laura E. Mitchell and Jacqueline T. Hecht

      Article first published online: 10 AUG 2011 | DOI: 10.1002/ajmg.a.34167

    9. Different roles of two novel susceptibility loci for nonsyndromic orofacial clefts in a Chinese Han population. (pages 2180–2185)

      Yongchu Pan, Weibing Zhang, Yifei Du, Na Tong, Yue Han, Hongchuang Zhang, Meilin Wang, Junqing Ma, Linzhon Wan and Lin Wang

      Article first published online: 10 AUG 2011 | DOI: 10.1002/ajmg.a.34170

    10. Chromosome 22q11.2 deletion syndrome in African-American patients: A diagnostic challenge (pages 2186–2195)

      Aravindhan Veerapandiyan, Omar A. Abdul-Rahman, Margaret P. Adam, Michael J. Lyons, Melanie Manning, Karlene Coleman, Lisa Kobrynski, Deeksha Taneja, Kelly Schoch, Holly H. Zimmerman and Vandana Shashi

      Article first published online: 10 AUG 2011 | DOI: 10.1002/ajmg.a.34226

    11. Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1 (pages 2196–2202)

      Maria Cristina Digilio, Laura Bernardini, Francesca Lepri, Maria Grazia Giuffrida, Valentina Guida, Anwar Baban, Paolo Versacci, Rossella Capolino, Barbara Torres, Alessandro De Luca, Antonio Novelli, Bruno Marino and Bruno Dallapiccola

      Article first published online: 3 AUG 2011 | DOI: 10.1002/ajmg.a.34131

  13. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. New Syndrome
    7. Invited Comments
    8. Research Articles
    9. Invited Comments
    10. Clinical Reports
    11. Genetic Drift
    12. Conference Report
    13. Research Articles
    14. Clinical Reports
    15. Research Letters
    16. Correspondence
    1. You have full text access to this OnlineOpen article
      Pierpont syndrome: A collaborative study (pages 2203–2211)

      Emma M.M. Burkitt Wright, Mohnish Suri, Susan M. White, Nicole de Leeuw, Anneke T. Vulto-van Silfhout, Fiona Stewart, Shane McKee, Sahar Mansour, Fiona C Connell, Maya Chopra, Edwin P. Kirk, Koen Devriendt, Willie Reardon, Han Brunner and Dian Donnai

      Article first published online: 10 AUG 2011 | DOI: 10.1002/ajmg.a.34147

    2. You have free access to this content
      Branchial arch defects and 19p13.12 microdeletion: Defining the critical region into a 0.8 M base interval (pages 2212–2214)

      Kenjiro Kosaki, Hideyuki Saito, Rika Kosaki, Chiharu Torii, Kazuo Kishi and Takao Takahashi

      Article first published online: 3 AUG 2011 | DOI: 10.1002/ajmg.a.33908

    3. Noncompaction of the left ventricular myocardium in a boy with a novel chromosome 8p23.1 deletion (pages 2215–2220)

      Joshua J. Blinder, Hugo R. Martinez, William J. Craigen, John Belmont, Ricardo H. Pignatelli and John L. Jefferies

      Article first published online: 10 AUG 2011 | DOI: 10.1002/ajmg.a.34129

    4. Wilms tumor incidence in children with 2q terminal deletions: A cohort study (pages 2221–2223)

      Elizabeth A. Jones, Alison Stewart, Charles Stiller, Fiona Douglas and Nick Bown

      Article first published online: 3 AUG 2011 | DOI: 10.1002/ajmg.a.34117

    5. A novel 4p16.3 microduplication distal to WHSC1 and WHSC2 characterized by oligonucleotide array with new phenotypic features (pages 2224–2228)

      Andrew B. Cyr, Manjunath Nimmakayalu, Susannah Q. Longmuir, Shivanand R. Patil, Kim M. Keppler-Noreuil and Oleg A. Shchelochkov

      Article first published online: 3 AUG 2011 | DOI: 10.1002/ajmg.a.34120

    6. Furthering the link between the sarcomere and primary cardiomyopathies: Restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy (pages 2229–2235)

      Colleen Caleshu, Rahul Sakhuja, Robert L. Nussbaum, Nelson B. Schiller, Philip C. Ursell, Celeste Eng, Teresa De Marco, Dana McGlothlin, Esteban González Burchard and J. Eduardo Rame

      Article first published online: 5 AUG 2011 | DOI: 10.1002/ajmg.a.34097

    7. Familial cardiac valvulopathy due to filamin A mutation (pages 2236–2241)

      Jonathan A. Bernstein, Daniel Bernstein, Ute Hehr and Louanne Hudgins

      Article first published online: 3 AUG 2011 | DOI: 10.1002/ajmg.a.34132

    8. Homozygous microdeletion of the POU1F1, CHMP2B, and VGLL3 genes in chromosome 3—A novel syndrome (pages 2242–2246)

      Galia Gat-Yablonski, Rachel Frumkin-Ben David, Meytal Bar, Olga Potievsky, Moshe Phillip and Liora Lazar

      Article first published online: 3 AUG 2011 | DOI: 10.1002/ajmg.a.34136

    9. Potential teratogenic effects of allopurinol: A case report (pages 2247–2252)

      Mariya Kozenko, David Grynspan, Titi Oluyomi-Obi, Daniel Sitar, Alison M. Elliott and Bernard N. Chodirker

      Article first published online: 3 AUG 2011 | DOI: 10.1002/ajmg.a.34139

    10. You have free access to this content
      Monozygotic twin discordance for phacomatosis cesioflammea further supports the post-zygotic mutation hypothesis (pages 2253–2256)

      Marco Castori, Stefano Sarazani, Francesco Binni, Francesca Romana Pezzella, Giovanni Cruciani and Paola Grammatico

      Article first published online: 3 AUG 2011 | DOI: 10.1002/ajmg.a.34140

    11. Improvement in the range of joint motion in seven patients with mucopolysaccharidosis type II during experimental gene expression-targeted isoflavone therapy (GET IT) (pages 2257–2262)

      Jolanta Marucha, Anna Tylki-Szymańska, Joanna Jakóbkiewicz-Banecka, Ewa Piotrowska, Anna Kloska, Barbara Czartoryska and Grzegorz Węgrzyn

      Article first published online: 10 AUG 2011 | DOI: 10.1002/ajmg.a.34146

    12. Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome (pages 2263–2268)

      Karen W. Gripp, Deborah L. Stabley, Peter L. Geller, Elizabeth Hopkins, David A. Stevenson, John C. Carey and Katia Sol-Church

      Article first published online: 10 AUG 2011 | DOI: 10.1002/ajmg.a.34150

    13. Heterozygous C-propeptide mutations in COL1A1: Osteogenesis imperfecta type IIC and dense bone variant (pages 2269–2273)

      Masaki Takagi, Naoaki Hori, Yasutsugu Chinen, Kenji Kurosawa, Yukichi Tanaka, Kikuko Oku, Hitomi Sakata, Ryuji Fukuzawa, Gen Nishimura, Jürgen Spranger and Tomonobu Hasegawa

      Article first published online: 10 AUG 2011 | DOI: 10.1002/ajmg.a.34152

    14. Clinical and genomic characterization of siblings with a distal duplication of chromosome 9q (9q34.1-qter) (pages 2274–2280)

      Seiji Mizuno, Daisuke Fukushi, Reiko Kimura, Kenichiro Yamada, Yasukazu Yamada, Toshiyuki Kumagai and Nobuaki Wakamatsu

      Article first published online: 10 AUG 2011 | DOI: 10.1002/ajmg.a.34160

    15. Subtelomeric monosomy 11q and trisomy 16q in siblings and an unrelated child: Molecular characterization of two der(11)t(11;16) (pages 2281–2287)

      Audrey Basinko, Séverine Audebert-Bellanger, Nathalie Douet-Guilbert, Jérémie Le Franc, Philippe Parent, Sylvia Quemener, Philippe La Selve, Clément Bovo, Frédéric Morel, Marie-Josée Le Bris and Marc De Braekeleer

      Article first published online: 10 AUG 2011 | DOI: 10.1002/ajmg.a.34162

    16. Catel–Manzke syndrome: A clinical report suggesting autosomal recessive inheritance (pages 2288–2292)

      Pelin Özlem Şimşek Kiper, Gülen Eda Utine, Koray Boduroğlu and Yasemin Alanay

      Article first published online: 10 AUG 2011 | DOI: 10.1002/ajmg.a.34163

    17. Mild Tessier No. 7 cleft with PHACE syndrome: The case for pulmonary vascular steal (pages 2298–2301)

      Amit Bajaj, Peter Dyke, Christina Zaleski, Joseph Cava and Elizabeth McPherson

      Article first published online: 10 AUG 2011 | DOI: 10.1002/ajmg.a.34166

    18. Mosaic partial trisomy 19p12-q13.11 due to a small supernumerary marker chromosome: A locus associated with Asperger syndrome? (pages 2308–2310)

      Fabio Rueda Faucz, Josiane Souza, Aguinaldo Bonalumi Filho, Vanessa Santos Sotomaior, Egon Frantz, Sergio Antoniuk, Jill A. Rosenfeld and Salmo Raskin

      Article first published online: 3 AUG 2011 | DOI: 10.1002/ajmg.a.34196

  14. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Reviews
    6. New Syndrome
    7. Invited Comments
    8. Research Articles
    9. Invited Comments
    10. Clinical Reports
    11. Genetic Drift
    12. Conference Report
    13. Research Articles
    14. Clinical Reports
    15. Research Letters
    16. Correspondence
    1. Reproductive success in patients with Hallermann–Streiff syndrome (pages 2311–2313)

      Hironao Numabe, Hideaki Sawai, Zentaro Yamagata, Kaori Muto, Rika Kosaki, Kenya Yuki and Kenjiro Kosaki

      Article first published online: 3 AUG 2011 | DOI: 10.1002/ajmg.a.34042

    2. Screening for celiac disease in the joint hypermobility syndrome/Ehlers–Danlos syndrome hypermobility type (pages 2314–2316)

      Chiara Danese, Marco Castori, Claudia Celletti, Silvia Amato, Caterina Lo Russo, Paola Grammatico and Filippo Camerota

      Article first published online: 3 AUG 2011 | DOI: 10.1002/ajmg.a.34134

    3. Clinical pre- and postnatal (step-by-step) history of a boy with unbalanced translocation—t(3;15)(q26.33;q26.1) (pages 2320–2323)

      Constantinou Maria, Piotrowski Krzysztof, Zajączek Stanisław and Kałużewski Bogdan

      Article first published online: 10 AUG 2011 | DOI: 10.1002/ajmg.a.34148

    4. Growth in Phelan–McDermid syndrome (pages 2324–2326)

      Jonathan D. Rollins, Sara M. Sarasua, Katy Phelan, Barbara R. DuPont, R. Curtis Rogers and Julianne S. Collins

      Article first published online: 10 AUG 2011 | DOI: 10.1002/ajmg.a.34158

  15. Correspondence

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

SEARCH

SEARCH BY CITATION