American Journal of Medical Genetics Part A

Cover image for American Journal of Medical Genetics Part A

May 2013

Volume 161, Issue 5

Pages C1–C1, fm i–fm vi, vii–x, 921–1206

  1. Cover Image

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Book Review
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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. Clinical Reports
    7. Research Letters
    8. Book Review
    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 Articles
    6. Clinical Reports
    7. Research Letters
    8. Book Review
    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)

      Article first published online: 22 APR 2013 | DOI: 10.1002/ajmg.a.35978

  4. Research Articles

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Book Review
    1. Fractures in Children With Neurofibromatosis Type 1 From Two NF Clinics (pages 921–926)

      Jaya K. George-Abraham, Lisa J. Martin, Heidi J. Kalkwarf, Margaret B. Rieley, David A. Stevenson, David H. Viskochil, Robert J. Hopkin, Austin M. Stevens, Heather Hanson and Dr. Elizabeth K. Schorry

      Article first published online: 25 MAR 2013 | DOI: 10.1002/ajmg.a.35541

    2. Evaluation of Tibial Osteopathy Occurrence in Neurofibromatosis Type 1 Italian Patients (pages 927–934)

      Guido Morcaldi, Maurizio Clementi, Giuliana Lama, Orazio Gabrielli, Silvia Vannelli, Raffaele Virdis, Rossella Vivarelli, Silvio Boero and Eugenio Bonioli

      Article first published online: 5 MAR 2013 | DOI: 10.1002/ajmg.a.35753

    3. Practices and Policies of Clinical Exome Sequencing Providers: Analysis and Implications (pages 935–950)

      Seema M. Jamal, Joon-Ho Yu, Jessica X. Chong, Karin M. Dent, Jessie H. Conta, Holly K. Tabor and Michael J. Bamshad

      Article first published online: 22 APR 2013 | DOI: 10.1002/ajmg.a.35942

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    5. Evaluation of Chromosome 11p Imbalances in Aniridia and Wilms Tumor Patients (pages 958–964)

      Maike Busch, Barbara Leube, Anne Thiel, Ina Schanze, Manfred Beier and Dr. Brigitte Royer-Pokora

      Article first published online: 13 MAR 2013 | DOI: 10.1002/ajmg.a.35818

    6. Replication of Genome Wide Association Identified Candidate Genes Confirm the Role of Common and Rare Variants in PAX7 and VAX1 in the Etiology of Nonsyndromic CL(P) (pages 965–972)

      Azeez Butali, Satoshi Suzuki, Margaret E. Cooper, Adela M. Mansilla, Karen Cuenco, Elizabeth J. Leslie, Yasushi Suzuki, Teruyuki Niimi, Masahiko Yamamoto, Gongorjav Ayanga, Tudevdorj Erkhembaatar, Hiroo Furukawa, Kumiko Fujiwawa, Hideto Imura, Aline L. Petrin, Nagato Natsume, Terri H. Beaty, Mary L. Marazita and Jeffery C. Murray

      Article first published online: 5 MAR 2013 | DOI: 10.1002/ajmg.a.35749

    7. GPSM2 and Chudley–McCullough Syndrome: A Dutch Founder Variant Brought to North America (pages 973–976)

      Rowida Almomani, Yu Sun, Emmelien Aten, Yvonne Hilhorst-Hofstee, Cacha M.P.C.D. Peeters-Scholte, Arie van Haeringen, Yvonne M.C. Hendriks, Johan T. den Dunnen, Martijn H. Breuning, Marjolein Kriek and Gijs W.E. Santen

      Article first published online: 13 MAR 2013 | DOI: 10.1002/ajmg.a.35808

    8. Reduces Bone Mass as in Human Apert Syndrome (pages 983–992)

      Xia Zhou, Dongquan Pu, Ri Liu, Xiangjie Li, Xiujie Wen, Li Zhang, Lin Chen, Manjing Deng and Luchuan Liu

      Article first published online: 13 MAR 2013 | DOI: 10.1002/ajmg.a.35824

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      Bilateral Pheochromocytomas, Hemihyperplasia, and Subtle Somatic Mosaicism: The Importance of Detecting Low-Level Uniparental Disomy (pages 993–1001)

      Jennifer M. Kalish, Laura K. Conlin, Sogol Mostoufi-Moab, Alisha B. Wilkens, Surabhi Mulchandani, Kristin Zelley, Megan Kowalski, Tricia R. Bhatti, Pierre Russo, Peter Mattei, William G. Mackenzie, Virginia LiVolsi, Kim E. Nichols, Jaclyn A. Biegel, Nancy B. Spinner and Matthew A. Deardorff

      Article first published online: 26 MAR 2013 | DOI: 10.1002/ajmg.a.35831

    10. Corpus Callosum Shape Is Altered in Individuals With Nonsyndromic Cleft Lip and Palate (pages 1002–1007)

      Seth M. Weinberg, Trish E. Parsons, Melissa R. Fogel, Courtney P. Walter, Amy L. Conrad and Peg Nopoulos

      Article first published online: 26 MAR 2013 | DOI: 10.1002/ajmg.a.35835

    11. Prenatal Presentation and Diagnostic Evaluation of Suspected Smith–Lemli–Opitz (RSH) Syndrome (pages 1008–1011)

      Dorothea Haas, Gisela Haege, Georg F. Hoffmann and Peter Burgard

      Article first published online: 26 MAR 2013 | DOI: 10.1002/ajmg.a.35837

    12. Fraser Syndrome: Epidemiological Study in a European Population (pages 1012–1018)

      Ingeborg Barisic, Ljubica Odak, Maria Loane, Ester Garne, Diana Wellesley, Elisa Calzolari, Helen Dolk, Marie-Claude Addor, Larraitz Arriola, Jorieke Bergman, Sebastiano Bianca, Patricia A. Boyd, Elizabeth S Draper, Miriam Gatt, Martin Haeusler, Babak Khoshnood, Anna Latos-Bielenska, Bob McDonnell, Anna Pierini, Judith Rankin, Anke Rissmann, Annette Queisser-Luft, Christine Verellen-Dumoulin, David Stone and Romano Tenconi

      Article first published online: 26 MAR 2013 | DOI: 10.1002/ajmg.a.35839

    13. Analysis of De Novo HOXA13 Polyalanine Expansions Supports Replication Slippage Without Repair in Their Generation (pages 1019–1027)

      Kailey M. Owens, Shane C. Quinonez, Peedikayil E. Thomas, Catherine E. Keegan, Nanci Lefebvre, Diane Roulston, Christine A. Larsen, H. Scott Stadler and Jeffrey W. Innis

      Article first published online: 26 MAR 2013 | DOI: 10.1002/ajmg.a.35843

    14. Thoracic Aortic Aneurysm in Infancy in Aneurysms–Osteoarthritis Syndrome Due to a Novel SMAD3 Mutation: Further Delineation of the Phenotype (pages 1028–1035)

      Anita Wischmeijer, Lut Van Laer, Giada Tortora, Nikhita Ajit Bolar, Guy Van Camp, Erik Fransen, Nils Peeters, Roberto di Bartolomeo, Davide Pacini, Gaetano Gargiulo, Simone Turci, Marco Bonvicini, Elisabetta Mariucci, Luigi Lovato, Stefano Brusori, Marco Ritelli, Marina Colombi, Livia Garavelli, Marco Seri and Bart L. Loeys

      Article first published online: 29 MAR 2013 | DOI: 10.1002/ajmg.a.35852

    15. Improvement of CNS Defects Via Continuous Intrathecal Enzyme Replacement by Osmotic Pump in Mucopolysaccharidosis Type II Mice (pages 1036–1043)

      Young Bae Sohn, Jeehun Lee, Sung Yoon Cho, Su Jin Kim, Ah-Ra Ko, Mi Hyun Nam and Dong-Kyu Jin

      Article first published online: 25 MAR 2013 | DOI: 10.1002/ajmg.a.35869

    16. Intellectual Disability and Hemizygous GPD2 Mutation (pages 1044–1050)

      Daniela Q.C.M. Barge-Schaapveld, Rob Ofman, Alida C. Knegt, Mariëlle Alders, Wolfgang Höhne, Stephan Kemp and Raoul C.M. Hennekam

      Article first published online: 29 MAR 2013 | DOI: 10.1002/ajmg.a.35873

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      Preferential Associated Anomalies in 818 Cases of Microtia in South America (pages 1051–1057)

      Daniela V. Luquetti, Timothy C. Cox, Jorge Lopez-Camelo, Maria da Graça Dutra, Michael L. Cunningham and Eduardo E. Castilla

      Article first published online: 29 MAR 2013 | DOI: 10.1002/ajmg.a.35888

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    19. Attitudes of African Americans Toward Return of Results From Exome and Whole Genome Sequencing (pages 1064–1072)

      Joon-Ho Yu, Julia Crouch, Seema M. Jamal, Holly K. Tabor and Michael J. Bamshad

      Article first published online: 22 APR 2013 | DOI: 10.1002/ajmg.a.35914

  5. Clinical Reports

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Book Review
    1. A De Novo Deletion at 16q24.3 Involving ANKRD11 in a Japanese Patient With KBG Syndrome (pages 1073–1077)

      Satoko Miyatake, Akira Murakami, Nobuhiko Okamoto, Michiko Sakamoto, Noriko Miyake, Hirotomo Saitsu and Naomichi Matsumoto

      Article first published online: 5 MAR 2013 | DOI: 10.1002/ajmg.a.35661

    2. Interstitial Duplication of 2q32.1–q33.3 in a Patient With Epilepsy, Developmental Delay, and Autistic Behavior (pages 1078–1084)

      Daisuke Usui, Shino Shimada, Keiko Shimojima, Midori Sugawara, Hajime Kawasaki, Hideo Shigematu, Yukitoshi Takahashi, Yushi Inoue, Katsumi Imai and Toshiyuki Yamamoto

      Article first published online: 5 MAR 2013 | DOI: 10.1002/ajmg.a.35679

    3. Intestinal Ganglioneuromatosis: Unusual Presentation of Cowden Syndrome Resulting in Delayed Diagnosis (pages 1085–1090)

      Anna Vinitsky, Christina A. Zaleski, Sayed M. Sajjad and Elizabeth W. McPherson

      Article first published online: 19 MAR 2013 | DOI: 10.1002/ajmg.a.35731

    4. Simpson–Golabi–Behmel Syndrome Type 1 and Hepatoblastoma in a Patient With a Novel Exon 2–4 Duplication of the GPC3 Gene (pages 1091–1095)

      Dr. María Elena Mateos, Katrin Beyer, Eduardo López-Laso, Juan López Siles, Juan Luis Pérez-Navero, María José Peña, Juana Guzmán and Juliana Matas

      Article first published online: 5 MAR 2013 | DOI: 10.1002/ajmg.a.35738

    5. Trilateral Retinoblastoma in a Patient With Peutz–Jeghers Syndrome (pages 1096–1100)

      Anthony M. Raizis, David Van Mater, Lauri A. Aaltonen, Dietmar Lohmann, Michelle S. Cheale, Vivienne M. Bickley, Peter M. George, Yaolin Zhou and Philip M. Rosoff

      Article first published online: 5 MAR 2013 | DOI: 10.1002/ajmg.a.35748

    6. Contamination of Amniotic Fluid With Maternal Balanced t(11;22) Translocation Cells (pages 1101–1104)

      Siv Fokstuen, Franz Binkert, Analia Munoz, Niklaus Erb, Peter Dürig, Hans Jörg Altermatt, Jean-Louis Blouin and Dr. Dieter Kotzot

      Article first published online: 26 FEB 2013 | DOI: 10.1002/ajmg.a.35774

    7. Apparent Germline Mosaicism for a Novel 19p13.13 Deletion Disrupting NFIX and CACNA1A (pages 1105–1109)

      Manjunath Nimmakayalu, V. Kim Horton, Ben Darbro, Shivanand R. Patil, Hamza Alsayouf, Kim Keppler-Noreuil and Oleg A. Shchelochkov

      Article first published online: 13 MAR 2013 | DOI: 10.1002/ajmg.a.35790

    8. Clinical Comparison of Overlapping Deletions of 19p13.3 (pages 1110–1116)

      Hiba Risheg, Romela Pasion, Stephanie Sacharow, Virginia Proud, LaDonna Immken, Stuart Schwartz, Jim H. Tepperberg, Peter Papenhausen, Tiong Y. Tan, Joris Andrieux, Ghislaine Plessis, David J. Amor and Elisabeth A. Keitges

      Article first published online: 22 APR 2013 | DOI: 10.1002/ajmg.a.35923

    9. Narrowing the Critical Region for Congenital Vertical Talus in Patients With Interstitial 18q Deletions (pages 1117–1121)

      Paul R. Mark, Brian C. Radlinski, Nathalie Core, Alan Fryer, Edwin P. Kirk and Chad R. Haldeman-Englert

      Article first published online: 13 MAR 2013 | DOI: 10.1002/ajmg.a.35791

    10. Dermatosparaxis (Ehlers–Danlos Type VIIC): Prenatal Diagnosis Following a Previous Pregnancy With Unexpected Skull Fractures at Delivery (pages 1122–1125)

      Joyce Solomons, Paul Coucke, Sofie Symoens, Marta C. Cohen, F. Michael Pope, Bart E. Wagner, Glenda Sobey, Rebecca Black and Deirdre Cilliers

      Article first published online: 13 MAR 2013 | DOI: 10.1002/ajmg.a.35802

    11. Keratoconus in Costello Syndrome (pages 1132–1136)

      Karen W. Gripp and Laurie A. Demmer

      Article first published online: 13 MAR 2013 | DOI: 10.1002/ajmg.a.35816

    12. Hyperphagia, Mild Developmental Delay But Apparently No Structural Brain Anomalies in a Boy Without SOX3 Expression (pages 1137–1142)

      Johan Robert Helle, Tuva Barøy, Doriana Misceo, Øivind Braaten, Madeleine Fannemel and Eirik Frengen

      Article first published online: 5 MAR 2013 | DOI: 10.1002/ajmg.a.35823

    13. Recurring and Generalized Visceroptosis in Ehlers–Danlos Syndrome Hypermobility Type (pages 1143–1147)

      Chiara Dordoni, Marco Ritelli, Marina Venturini, Nicola Chiarelli, Lidia Pezzani, Annalisa Vascellaro, Piergiacomo Calzavara-Pinton and Marina Colombi

      Article first published online: 26 MAR 2013 | DOI: 10.1002/ajmg.a.35825

    14. Longer Term Survival of a Child With Autosomal Recessive Cutis Laxa Due to a Mutation in FBLN4 (pages 1148–1153)

      Sarah L. Sawyer, Frank Dicke, Adam Kirton, Thilinie Rajapkse, Ivan M. Rebeyka, Brenda McInnes, Jillian S. Parboosingh and Francois P. Bernier

      Article first published online: 26 MAR 2013 | DOI: 10.1002/ajmg.a.35827

    15. Persistent Hypertension Despite Successful Dilation of a Stenotic Renal Artery in a Boy With Neurofibromatosis Type 1 (pages 1154–1157)

      Keisuke Ueda, Midori Awazu, Yoriko Konishi, Toshiki Takenouchi, Sachiko Shimozato, Kenjiro Kosaki and Takao Takahashi

      Article first published online: 5 APR 2013 | DOI: 10.1002/ajmg.a.35829

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      The Fibroblast Growth Factor Receptor 2 p.Ala172Phe Mutation in Pfeiffer Syndrome—History Repeating Itself (pages 1158–1163)

      Sally Jay, Akira Wiberg, Marc Swan, Tracy Lester, Louise J. Williams, Indira B. Taylor, David Johnson and Andrew O.M. Wilkie

      Article first published online: 26 MAR 2013 | DOI: 10.1002/ajmg.a.35842

    17. Recurrent Pericarditis in Myhre Syndrome (pages 1164–1166)

      Paolo Picco, Aldo Naselli, Giovanna Pala, Alberto Marsciani, Antonella Buoncompagni and Alberto Martini

      Article first published online: 22 APR 2013 | DOI: 10.1002/ajmg.a.35892

  6. Research Letters

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Book Review
    1. First Evidence of Vertical Paternal Transmission of Osteopatia Striata With Cranial Sclerosis (pages 1173–1176)

      Sara Ciceri, Elisa Cattaneo, Chiara Fossati, Paolo Radice, Angelo Selicorni and Daniela Perotti

      Article first published online: 13 MAR 2013 | DOI: 10.1002/ajmg.a.35813

    2. Polymorphisms at Regions 1p22.1 (rs560426) and 8q24 (rs1530300) Are Risk Markers for Nonsyndromic Cleft Lip and/or Palate in the Brazilian Population (pages 1177–1180)

      Elizabete Bagordakis, Lívia Máris Ribeiro Paranaiba, Luciano Abreu Brito, Sibele Nascimento de Aquino, Ana Camila Messetti, Hercílio Martelli-Junior, Mario Sergio Oliveira Swerts, Edgard Graner, Maria Rita Passos-Bueno and Ricardo D. Coletta

      Article first published online: 26 MAR 2013 | DOI: 10.1002/ajmg.a.35830

    3. Mosaic Deletion of the NF1 Gene in a Patient With Cognitive Disability and Dysmorphic Features But Without Diagnostic Features of NF1 (pages 1185–1188)

      Dr. Ana Lisa Taylor Tavares, Lionel Willatt, Ruth Armstrong, Ingrid Simonic and Soo-Mi Park

      Article first published online: 26 MAR 2013 | DOI: 10.1002/ajmg.a.35853

    4. Aplasia Cutis Congenita of the Scalp in a Female Infant With Anophthalmia/Microphthalmia–Esophageal Atresia Syndrome Negative for SOX2 Mutation (pages 1189–1193)

      J. Román Corona-Rivera, Juan Carlos Zenteno, Erika Pelcastre-Luna, Karla Miguel-Jiménez, Rafael L. Aguirre-Guillén, Jesús Cabral-Macías, Christian Peña-Padilla, Lucina Bobadilla-Morales and Alfredo Corona-Rivera

      Article first published online: 5 MAR 2013 | DOI: 10.1002/ajmg.a.35854

    5. Partial Trisomy 18q and Epileptic Spasms Induced by Eating Associated With Bilateral Opercular Dysplasia (pages 1194–1195)

      Giuseppe d'Orsi, Maria Grazia Pascarella, Angela Pansini, Antonia Lucia Buonadonna, Marina Trivisano, Francesca Pacillo, Elena Carapelle, Vincenzo Demaio, Mauro Minervini, Mattia Gentile and Luigi M. Specchio

      Article first published online: 25 MAR 2013 | DOI: 10.1002/ajmg.a.35859

    6. Another Rare Prenatal Case of Post-Zygotic Mosaic Trisomy 17 (pages 1196–1199)

      Femke A.T. de Vries, Lutgarde C.P. Govaerts, Jeroen Knijnenburg, Maarten F.C.M. Knapen, Grétel G. Oudesluijs, Debora Lont, Petra Noomen, Katja de Graaff, Malgorzata I. Srebniak and Diane Van Opstal

      Article first published online: 19 MAR 2013 | DOI: 10.1002/ajmg.a.35867

    7. Advanced Maternal Age in Polyploidy With Concurrent Aneuploidy (pages 1200–1202)

      Lindsey A. Waltman, Jeanette E. Eckel-Passow, Ruchi G. Sharma and Daniel L. Van Dyke

      Article first published online: 29 MAR 2013 | DOI: 10.1002/ajmg.a.35870

  7. Book Review

    1. Top of page
    2. Cover Image
    3. Table of Contents
    4. the AJMG SEQUENCE
    5. Research Articles
    6. Clinical Reports
    7. Research Letters
    8. Book Review
    1. You have full text access to this OnlineOpen article

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