American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

December 2013

Volume 161, Issue 12

Pages C1–C1, fm i–fm v, vii–x, 2931–3216

  1. Cover Image

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. The AJMG Sequence
    5. Research Review
    6. Conference Report
    7. Research Articles
    8. Research Review
    9. Clinical Report
    10. Research Articles
    11. Clinical Reports
    12. Research Letter
    13. Research Review
    14. Corrigendum
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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 Review
    6. Conference Report
    7. Research Articles
    8. Research Review
    9. Clinical Report
    10. Research Articles
    11. Clinical Reports
    12. Research Letter
    13. Research Review
    14. Corrigendum
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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 Review
    6. Conference Report
    7. Research Articles
    8. Research Review
    9. Clinical Report
    10. Research Articles
    11. Clinical Reports
    12. Research Letter
    13. Research Review
    14. Corrigendum
    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 x)

      Version of Record online: 19 NOV 2013 | DOI: 10.1002/ajmg.a.36351

  4. Research Review

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. The AJMG Sequence
    5. Research Review
    6. Conference Report
    7. Research Articles
    8. Research Review
    9. Clinical Report
    10. Research Articles
    11. Clinical Reports
    12. Research Letter
    13. Research Review
    14. Corrigendum
  5. Conference Report

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. The AJMG Sequence
    5. Research Review
    6. Conference Report
    7. Research Articles
    8. Research Review
    9. Clinical Report
    10. Research Articles
    11. Clinical Reports
    12. Research Letter
    13. Research Review
    14. Corrigendum
    1. The society of craniofacial genetics and developmental biology 35th annual meeting (pages 2938–2952)

      Ophir D. Klein, Jeffrey O. Bush, Sarah M. Knox, Andrew H. Jheon, Dwight R. Cordero and Joan T. Richtsmeier

      Version of Record online: 2 AUG 2013 | DOI: 10.1002/ajmg.a.36053

  6. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. The AJMG Sequence
    5. Research Review
    6. Conference Report
    7. Research Articles
    8. Research Review
    9. Clinical Report
    10. Research Articles
    11. Clinical Reports
    12. Research Letter
    13. Research Review
    14. Corrigendum
    1. Expanding the genotype–phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis (pages 2953–2963)

      Sirisha Peddibhotla, Mohamed Khalifa, Frank J. Probst, Jennifer Stein, Leslie L. Harris, Debra L. Kearney, Gail H. Vance, Marilyn J. Bull, Dorothy K. Grange, Gunter H. Scharer, Sue-Hae L. Kang, Pawel Stankiewicz, Carlos A. Bacino, Sau W. Cheung and Ankita Patel

      Version of Record online: 2 OCT 2013 | DOI: 10.1002/ajmg.a.35886

    2. Cognitive, sensory, and psychosocial characteristics in patients with Bardet–Biedl syndrome (pages 2964–2971)

      Danielle D. Brinckman, Kim M. Keppler-Noreuil, Catherine Blumhorst, Leslie G. Biesecker, Julie C. Sapp, Jennifer J. Johnston and Edythe A. Wiggs

      Version of Record online: 5 NOV 2013 | DOI: 10.1002/ajmg.a.36245

    3. You have full text access to this OnlineOpen article
      Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype (pages 2972–2980)

      Katrina Tatton-Brown, Anne Murray, Sandra Hanks, Jenny Douglas, Ruth Armstrong, Siddharth Banka, Lynne M. Bird, Carol L. Clericuzio, Valerie Cormier-Daire, Tom Cushing, Frances Flinter, Marie-Line Jacquemont, Shelagh Joss, Esther Kinning, Sally Ann Lynch, Alex Magee, Vivienne McConnell, Ana Medeira, Keiichi Ozono, Michael Patton, Julia Rankin, Debbie Shears, Marleen Simon, Miranda Splitt, Volker Strenger, Kyra Stuurman, Clare Taylor, Hannah Titheradge, Lionel Van Maldergem, I. Karen Temple, Trevor Cole, Sheila Seal, Childhood Overgrowth Consortium and Nazneen Rahman

      Version of Record online: 8 NOV 2013 | DOI: 10.1002/ajmg.a.36229

    4. Ehlers–Danlos syndrome, hypermobility type: A characterization of the patients' lived experience (pages 2981–2988)

      Brittney Murray, Beverly M. Yashar, Wendy R. Uhlmann, Daniel J. Clauw and Elizabeth M. Petty

      Version of Record online: 6 NOV 2013 | DOI: 10.1002/ajmg.a.36293

  7. Research Review

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. The AJMG Sequence
    5. Research Review
    6. Conference Report
    7. Research Articles
    8. Research Review
    9. Clinical Report
    10. Research Articles
    11. Clinical Reports
    12. Research Letter
    13. Research Review
    14. Corrigendum
    1. Re-writing the natural history of pain and related symptoms in the joint hypermobility syndrome/Ehlers–Danlos syndrome, hypermobility type (pages 2989–3004)

      Marco Castori, Silvia Morlino, Claudia Celletti, Giulia Ghibellini, Michela Bruschini, Paola Grammatico, Carlo Blundo and Filippo Camerota

      Version of Record online: 6 NOV 2013 | DOI: 10.1002/ajmg.a.36315

  8. Clinical Report

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. The AJMG Sequence
    5. Research Review
    6. Conference Report
    7. Research Articles
    8. Research Review
    9. Clinical Report
    10. Research Articles
    11. Clinical Reports
    12. Research Letter
    13. Research Review
    14. Corrigendum
  9. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. The AJMG Sequence
    5. Research Review
    6. Conference Report
    7. Research Articles
    8. Research Review
    9. Clinical Report
    10. Research Articles
    11. Clinical Reports
    12. Research Letter
    13. Research Review
    14. Corrigendum
    1. Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS–FREM complex disorders (pages 3012–3017)

      Denny Schanze, Magdalena Harakalova, Cathy A. Stevens, Francesco Brancati, Bruno Dallapiccola, Peter Farndon, Victor E. F. Ferraz, Donna M. McDonald-McGinn, Elaine H. Zackai, Michael Wright, Stef van Lieshout, Maartje J. Vogel, Mieke M. van Haelst and Martin Zenker

      Version of Record online: 24 SEP 2013 | DOI: 10.1002/ajmg.a.36119

    2. 3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients (pages 3018–3022)

      Santina Città, Serafino Buono, Donatella Greco, Concetta Barone, Enrico Alfei, Sara Bulgheroni, Arianna Usilla, Chiara Pantaleoni and Corrado Romano

      Version of Record online: 24 SEP 2013 | DOI: 10.1002/ajmg.a.36142

    3. The identification of MAFB mutations in eight patients with multicentric carpo–tarsal osteolysis supports genetic homogeneity but clinical variability (pages 3023–3029)

      Cybel Mehawej, Jean-Benoît Courcet, Geneviève Baujat, Richard Mouy, Marion Gérard, Isabelle Landru, Morgane Gosselin, Philippe Koehrer, Christiane Mousson, Sylvain Breton, Pierre Quartier, Martine Le Merrer, Laurence Faivre and Valérie Cormier-Daire

      Version of Record online: 16 AUG 2013 | DOI: 10.1002/ajmg.a.36151

    4. Management of hypogonadism in adolescent girls and adult women with Prader–Willi syndrome (pages 3030–3034)

      Talia Eldar-Geva, Harry J. Hirsch, Yehuda Pollak, Fortu Benarroch and Varda Gross-Tsur

      Version of Record online: 16 AUG 2013 | DOI: 10.1002/ajmg.a.36152

    5. De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformations (pages 3035–3041)

      Gabriel C. Dworschak, Markus Draaken, Carlo Marcelis, Ivo de Blaauw, Rolph Pfundt, Iris A.L.M. van Rooij, Enrika Bartels, Alina Hilger, Ekkehart Jenetzky, Eberhard Schmiedeke, Sabine Grasshoff-Derr, Dominik Schmidt, Stefanie Märzheuser, Stuart Hosie, Sandra Weih, Stefan Holland-Cunz, Markus Palta, Johannes Leonhardt, Mattias Schäfer, Christina Kujath, Anke Rißmann, Markus M. Nöthen, Nadine Zwink, Michael Ludwig and Heiko Reutter

      Version of Record online: 16 AUG 2013 | DOI: 10.1002/ajmg.a.36153

    6. Neuromotor synapses in Escobar syndrome (pages 3042–3048)

      Karyn G. Robinson, Matthew J. Viereck, Megan V. Margiotta, Karen W. Gripp, Omar A. Abdul-Rahman and Robert E. Akins

      Version of Record online: 16 AUG 2013 | DOI: 10.1002/ajmg.a.36154

    7. Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement (pages 3049–3056)

      Kaoru Eto, Norio Sakai, Shino Shimada, Mutsuki Shioda, Keiko Ishigaki, Yusuke Hamada, Michiko Shinpo, Junji Azuma, Koji Tominaga, Keiko Shimojima, Keiichi Ozono, Makiko Osawa and Toshiyuki Yamamoto

      Version of Record online: 16 AUG 2013 | DOI: 10.1002/ajmg.a.36156

    8. Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype (pages 3057–3062)

      Toshiki Takenouchi, Mariko Hida, Yoshiaki Sakamoto, Chiharu Torii, Rika Kosaki, Takao Takahashi and Kenjiro Kosaki

      Version of Record online: 16 AUG 2013 | DOI: 10.1002/ajmg.a.36157

    9. Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation (pages 3063–3071)

      Gaetan Lesca, Marie-Pierre Moizard, Gerald Bussy, Dominique Boggio, Hao Hu, Stefan A. Haas, Hans-Hilger Ropers, Vera M. Kalscheuer, Vincent Des Portes, Audrey Labalme, Damien Sanlaville, Patrick Edery, Martine Raynaud and James Lespinasse

      Version of Record online: 16 AUG 2013 | DOI: 10.1002/ajmg.a.36162

    10. Dysregulation of FOXG1 pathway in a 14q12 microdeletion case (pages 3072–3077)

      Olivier Perche, Georges Haddad, Arnaud Menuet, Patrick Callier, Mélanie Marcos, Sylvain Briault and Béatrice Laudier

      Version of Record online: 16 AUG 2013 | DOI: 10.1002/ajmg.a.36170

    11. Non-immune hydrops fetalis: A prospective study of 53 cases (pages 3078–3086)

      Carolina A. Moreno, Thatiane Kanazawa, Ricardo Barini, Marcelo L. Nomura, Kléber C. Andrade, Cristiane P. Gomes, Juliana K. Heinrich, Roberto Giugliani, Maira Burin and Denise P. Cavalcanti

      Version of Record online: 16 AUG 2013 | DOI: 10.1002/ajmg.a.36171

    12. High-resolution analysis of copy number variants in adults with simple-to-moderate congenital heart disease (pages 3087–3094)

      Wei Zhao, Guannan Niu, Botao Shen, Yang Zheng, Fangchao Gong, Xianfu Wang, Jiyun Lee, John J. Mulvihill, Xiaohui Chen and Shibo Li

      Version of Record online: 24 SEP 2013 | DOI: 10.1002/ajmg.a.36177

    13. Isolated truncus arteriosus associated with a mutation in the plexin-D1 gene (pages 3115–3120)

      Asaf Ta-Shma, Ciro Leonardo Pierri, Polina Stepensky, Avraham Shaag, Shamir Zenvirt, Orly Elpeleg and Azaria J.J.T. Rein

      Version of Record online: 29 OCT 2013 | DOI: 10.1002/ajmg.a.36194

  10. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. The AJMG Sequence
    5. Research Review
    6. Conference Report
    7. Research Articles
    8. Research Review
    9. Clinical Report
    10. Research Articles
    11. Clinical Reports
    12. Research Letter
    13. Research Review
    14. Corrigendum
    1. Similarity of geleophysic dysplasia and weill–marchesani syndrome (pages 3130–3132)

      Aaina Kochhar, Salman Kirmani, Frank Cetta, Brian Younge, James C. Hyland and Virginia Michels

      Version of Record online: 24 SEP 2013 | DOI: 10.1002/ajmg.a.36147

    2. JAG1 Mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot (pages 3133–3136)

      Maria Cristina Digilio, Alessandro De Luca, Francesca Lepri, Valentina Guida, Rosangela Ferese, Maria Lisa Dentici, Adriano Angioni, Bruno Marino and Bruno Dallapiccola

      Version of Record online: 16 AUG 2013 | DOI: 10.1002/ajmg.a.36148

    3. Endocrine phenotype of 6q16.1–q21 deletion involving SIM1 and Prader–Willi syndrome-like features (pages 3137–3143)

      Kosuke Izumi, Ryan Housam, Chirag Kapadia, Virginia A. Stallings, Livija Medne, Tamim H. Shaikh, Bassil M. Kublaoui, Elaine H. Zackai and Adda Grimberg

      Version of Record online: 16 AUG 2013 | DOI: 10.1002/ajmg.a.36149

    4. Severe intellectual disability, West syndrome, Dandy–Walker malformation, and syndactyly in a patient with partial tetrasomy 17q25.3 (pages 3144–3149)

      Karl Hackmann, Anja Stadler, Jens Schallner, Kathlen Franke, Eva-Maria Gerlach, Evelin Schrock, Andreas Rump, Christine Fauth, Sigrid Tinschert and Konrad Oexle

      Version of Record online: 16 AUG 2013 | DOI: 10.1002/ajmg.a.36155

    5. Congenital heart defects in oculodentodigital dysplasia: Report of two cases (pages 3150–3154)

      Kosuke Izumi, Andrew M. Lippa, Alisha Wilkens, Holly A. Feret, Donna M. McDonald-McGinn and Elaine H. Zackai

      Version of Record online: 2 OCT 2013 | DOI: 10.1002/ajmg.a.36159

    6. Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome (pages 3155–3160)

      Farouq K. Ababneh, Abdulrahman AlSwaid, Talaat Youssef, Manaf Al Azzawi, Andrew Crosby and Mohammed A. AlBalwi

      Version of Record online: 16 AUG 2013 | DOI: 10.1002/ajmg.a.36160

    7. Homozygosity for a novel truncating mutation confirms TBX15 deficiency as the cause of Cousin syndrome (pages 3161–3165)

      Esra Dikoglu, Pelin Ozlem Simsek-Kiper, Gulen Eda Utine, Belinda Campos-Xavier, Koray Boduroglu, Luisa Bonafé, Andrea Superti-Furga and Sheila Unger

      Version of Record online: 16 AUG 2013 | DOI: 10.1002/ajmg.a.36173

    8. FOXP1 mutations cause intellectual disability and a recognizable phenotype (pages 3166–3175)

      Anna K. Le Fevre, Sharelle Taylor, Neva H. Malek, Denise Horn, Christopher W. Carr, Omar A. Abdul-Rahman, Sherindan O'Donnell, Trent Burgess, Marie Shaw, Jozef Gecz, Nicole Bain, Kerry Fagan and Matthew F. Hunter

      Version of Record online: 24 SEP 2013 | DOI: 10.1002/ajmg.a.36174

    9. Severe growth retardation, delayed bone age, and facial dysmorphism in two patients with microduplications in 2p16 [RIGHTWARDS ARROW] p22 (pages 3176–3181)

      Anya Blassnig-Ezeh, Claude Bandelier, Anne Frühmesser, Nicole Revencu, Birgit Krabichler, Véronique Beauloye, Marie Ravoet, Christine Fauth, Johannes Zschocke, Burkhard Simma and Dieter Kotzot

      Version of Record online: 24 SEP 2013 | DOI: 10.1002/ajmg.a.36176

    10. Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome (pages 3182–3186)

      Matteo Vatta, Zhiyv Niu, James R. Lupski, Philip Putnam, Katherine G. Spoonamore, Ping Fang, Christine M. Eng and Alecia S. Willis

      Version of Record online: 16 AUG 2013 | DOI: 10.1002/ajmg.a.36178

    11. Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation (pages 3187–3190)

      Audra L. Bettinelli, Theodorus J. Mulder, Birgit H. Funke, Katherine A. Lafferty, Sherri A. Longo and Dmitriy M. Niyazov

      Version of Record online: 16 AUG 2013 | DOI: 10.1002/ajmg.a.36182

    12. A description of a fetal syndrome associated with HNF1B mutation and a wide intrafamilial disease variability (pages 3191–3195)

      Maria Rasmussen, Mette Ramsing, Olav Bjørn Petersen, Ida Vogel and Lone Sunde

      Version of Record online: 29 OCT 2013 | DOI: 10.1002/ajmg.a.36190

    13. Polysomnographic findings in infantile Pompe disease (pages 3196–3200)

      Sujay Kansagra, Stephanie Austin, Stephanie DeArmey, Priya S. Kishnani and Richard M. Kravitz

      Version of Record online: 2 OCT 2013 | DOI: 10.1002/ajmg.a.36227

  11. Research Letter

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. The AJMG Sequence
    5. Research Review
    6. Conference Report
    7. Research Articles
    8. Research Review
    9. Clinical Report
    10. Research Articles
    11. Clinical Reports
    12. Research Letter
    13. Research Review
    14. Corrigendum
    1. Partial trisomy 15q23 and partial monosomy 5p15.32: Case report and a literature review (pages 3201–3204)

      Surasak Puvabanditsin, Imteyaz Khan, Eugene Garrow, Christina Botti, George Lambert and Michelle Quan

      Version of Record online: 16 AUG 2013 | DOI: 10.1002/ajmg.a.36150

  12. Research Review

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. The AJMG Sequence
    5. Research Review
    6. Conference Report
    7. Research Articles
    8. Research Review
    9. Clinical Report
    10. Research Articles
    11. Clinical Reports
    12. Research Letter
    13. Research Review
    14. Corrigendum
    1. Pediatric glaucoma terminology (pages 3205–3215)

      Anuradha Ganesh, Dang Tam Mai and Alex V. Levin

      Version of Record online: 18 SEP 2013 | DOI: 10.1002/ajmg.a.35205

  13. Corrigendum

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. The AJMG Sequence
    5. Research Review
    6. Conference Report
    7. Research Articles
    8. Research Review
    9. Clinical Report
    10. Research Articles
    11. Clinical Reports
    12. Research Letter
    13. Research Review
    14. Corrigendum
    1. You have free access to this content

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