American Journal of Medical Genetics Part A

Cover image for Vol. 164 Issue 5

Early View (Online Version of Record published before inclusion in an issue)

Edited By: John C. Carey

Impact Factor: 2.304

ISI Journal Citation Reports © Ranking: 2012: 95/161 (Genetics & Heredity)

Online ISSN: 1552-4833

Associated Title(s): American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

VIEW

  1. 1 - 100
  1. Clinical Reports

  2. Research Articles

    1. Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects

      Marijke Bauters, Suzanna G. Frints, Hilde Van Esch, Liesbeth Spruijt, Marcella M. Baldewijns, Christine E. M. de Die-Smulders, Jean-Pierre Fryns, Peter Marynen and Guy Froyen

      Article first published online: 15 APR 2014 | DOI: 10.1002/ajmg.a.36580

  3. Clinical Reports

    1. Hypergonadotropic hypogonadism and hypersegmented neutrophils in a patient with ataxia-telangiectasia-like disorder: Potential diagnostic clues?

      Takeshi Yoshida, Tomonari Awaya, Minoru Shibata, Takeo Kato, Hironao Numabe, Junya Kobayashi, Kenshi Komatsu and Toshio Heike

      Article first published online: 14 APR 2014 | DOI: 10.1002/ajmg.a.36546

  4. Correspondence

    1. Correspondence regarding SNX8 haploinsufficiency and its potential for cardiac anomalies including tetralogy of Fallot

      Rena J. Vanzo, Megan M. Martin, Mallory R. Sdano, Kathie Teta and Sarah T. South

      Article first published online: 14 APR 2014 | DOI: 10.1002/ajmg.a.36572

  5. Research Articles

    1. Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome

      Daniela Di Benedetto, Sebastiano Antonino Musumeci, Emanuela Avola, Antonino Alberti, Serafino Buono, Carmela Scuderi, Lucia Grillo, Ornella Galesi, Angela Spalletta, Mariangela Lo Giudice, Daniela Luciano, Mirella Vinci, Sebastiano Bianca, Corrado Romano and Marco Fichera

      Article first published online: 14 APR 2014 | DOI: 10.1002/ajmg.a.36570

  6. Clinical Reports

    1. Macrocerebellum, epilepsy, intellectual disability, and gut malrotation in a child with a 16q24.1–q24.2 contiguous gene deletion

      Andrea H. Seeley, Mark A. Durham, Mark A. Micale, Jeffrey Wesolowski, Bradley R. Foerster and Donna M. Martin

      Article first published online: 9 APR 2014 | DOI: 10.1002/ajmg.a.36569

  7. Research Articles

    1. Fatigue in adults with Marfan syndrome, occurrence and associations to pain and other factors

      Trine Bathen, Gry Velvin, Svend Rand-Hendriksen and Hilde Stendal Robinson

      Article first published online: 9 APR 2014 | DOI: 10.1002/ajmg.a.36574

  8. Clinical Reports

    1. The perinatal presentation of cardiofaciocutaneous syndrome

      Kara N. Wong Ramsey, Matthew H. Loichinger, Thomas P. Slavin, Sheree Kuo and Laurie H. Seaver

      Article first published online: 9 APR 2014 | DOI: 10.1002/ajmg.a.36558

    2. Blepharo-cheilo-dontic (BCD) syndrome: Expanding the phenotype, case report and review of literature

      Farouq K. Ababneh, Abdulrahman Al-Swaid, Ahmed Elhag, Talaat Youssef and Saif Alsaif

      Article first published online: 9 APR 2014 | DOI: 10.1002/ajmg.a.36465

  9. Research Articles

    1. Autism traits in children and adolescents with Cornelia de Lange syndrome

      Siddharth Srivastava, Colleen Landy-Schmitt, Bennett Clark, Antonie D. Kline, Matt Specht and Marco A. Grados

      Article first published online: 9 APR 2014 | DOI: 10.1002/ajmg.a.36573

    2. Expanding the phenotypic profile of boys with 47, XXY: The impact of familial learning disabilities

      Carole A. Samango-Sprouse, Emily J. Stapleton, Francie L. Mitchell, Teresa Sadeghin, Thomas P. Donahue and Andrea L. Gropman

      Article first published online: 8 APR 2014 | DOI: 10.1002/ajmg.a.36483

  10. Research Reviews

    1. You have full text access to this OnlineOpen article
  11. Clinical Reports

    1. Rodriguez syndrome with SF3B4 mutation: A severe form of Nager syndrome?

      Elizabeth McPherson, Christina Zaleski, Zhan Ye and Simon Lin

      Article first published online: 8 APR 2014 | DOI: 10.1002/ajmg.a.36555

  12. Conference Reports

    1. The society of craniofacial genetics and developmental biology 36th annual meeting

      Matthew P. Harris and Patricia Purcell

      Article first published online: 8 APR 2014 | DOI: 10.1002/ajmg.a.36565

  13. Research Articles

  14. Correspondence

    1. 7p22.3 microdeletion disrupting SNX8 in a patient presenting with intellectual disability but no tetralogy of Fallot

      John Rendu, Véronique Satre, Hervé Testard, Francoise Devillard, Gaëlle Vieville, Julien Fauré, Florence Amblard, Pierre-Simon Jouk and Charles Coutton

      Article first published online: 8 APR 2014 | DOI: 10.1002/ajmg.a.36566

  15. Research Letters

    1. Hepatomegaly and hyperammonemia in a girl with Silver–Russell syndrome caused by maternal uniparental isodisomy of chromosome 7

      Cheng-Fang Li, Hsiang-Yu Lin, Hao-Chuan Liu, Sheng-Hung Lee, Ming-Yu Lo, Shuan-Pei Lin, Fu-Sung Lo and Dau-Ming Niu

      Article first published online: 8 APR 2014 | DOI: 10.1002/ajmg.a.36567

  16. Research Articles

    1. The spectrum of ZEB2 mutations causing the Mowat–Wilson syndrome in Japanese populations

      Yasukazu Yamada, Noriko Nomura, Kenichiro Yamada, Mari Matsuo, Yuka Suzuki, Kiyoko Sameshima, Reiko Kimura, Yuto Yamamoto, Daisuke Fukushi, Yayoi Fukuhara, Naoko Ishihara, Eriko Nishi, George Imataka, Hiroshi Suzumura, Shin-Ichiro Hamano, Kenji Shimizu, Mie Iwakoshi, Kazunori Ohama, Akira Ohta, Hiroyuki Wakamoto, Mitsuharu Kajita, Kiyokuni Miura, Kenji Yokochi, Kenjiro Kosaki, Tatsuo Kuroda, Rika Kosaki, Yoko Hiraki, Kayoko Saito, Seiji Mizuno, Kenji Kurosawa, Nobuhiko Okamoto and Nobuaki Wakamatsu

      Article first published online: 8 APR 2014 | DOI: 10.1002/ajmg.a.36551

  17. Clinical Reports

    1. Blepharophimosis, short humeri, developmental delay and hirschsprung disease: Expanding the phenotypic spectrum of MED12 mutations

      Bertrand Isidor, Tiphaine Lefebvre, Claudine Le Vaillant, Gaëlle Caillaud, Laurence Faivre, Frédéric Jossic, Madeleine Joubert, Norbert Winer, Cédric Le Caignec, Guntram Borck, Anna Pelet, Jeanne Amiel, Annick Toutain, Nathalie Ronce, Martine Raynaud, Alain Verloes and Albert David

      Article first published online: 8 APR 2014 | DOI: 10.1002/ajmg.a.36539

  18. Research Articles

    1. Axenfeld-Rieger syndrome: Further clinical and array delineation of four unrelated patients with a 4q25 microdeletion

      Hannah Titheradge, Fiona Togneri, Dominic McMullan, Louise Brueton, Derek Lim and Denise Williams

      Article first published online: 8 APR 2014 | DOI: 10.1002/ajmg.a.36540

  19. Clinical Reports

  20. Research Articles

    1. The high frequency of genetic diseases in hypotonic infants referred by neuropediatrics

      Zacil Vilchis, Nayelli Najera, Javier Pérez-Duran, Zenyesen Najera, Lourdes Gonzalez, Maria del Refugio Rivera and Gloria Queipo

      Article first published online: 8 APR 2014 | DOI: 10.1002/ajmg.a.36543

  21. Clinical Reports

  22. Research Articles

    1. Genotype–phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia

      Kristin Burger, Anne-Theres Schneider, Sigrun Wohlfart, Franklin Kiesewetter, Kenneth Huttner, Ramsey Johnson and Holm Schneider

      Article first published online: 8 APR 2014 | DOI: 10.1002/ajmg.a.36541

  23. Frameshifts

    1. A day in the life

      Rachel Adams

      Article first published online: 8 APR 2014 | DOI: 10.1002/ajmg.a.36534

  24. Clinical Reports

    1. Homozygous N540K hypochondroplasia—First report: Radiological and clinical features

      M. Laura Garcia De Rosa, Virginia Fano, H. Verónica Araoz, Lilien Chertkoff and M. Gabriela Obregon

      Article first published online: 8 APR 2014 | DOI: 10.1002/ajmg.a.36504

    2. Novel SMAD4 mutation causing Myhre syndrome

      Viviana Caputo, Gianfranco Bocchinfuso, Marco Castori, Alice Traversa, Antonio Pizzuti, Lorenzo Stella, Paola Grammatico and Marco Tartaglia

      Article first published online: 8 APR 2014 | DOI: 10.1002/ajmg.a.36544

  25. Research Articles

    1. Screening children with neurofibromatosis type 1 for autism spectrum disorder

      Jade Tinker, Paul S. Carbone, David Viskochil, Amber Mathiesen, Khe-Ni Ma and David A. Stevenson

      Article first published online: 8 APR 2014 | DOI: 10.1002/ajmg.a.36549

  26. Research Reviews

  27. Clinical Reports

    1. Upper airway surgery of obstructive sleep apnea in pycnodysostosis: Case report and literature review

      Elisa Testani, Emanuele Scarano, Chiara Leoni, Serena Dittoni, Anna Losurdo, Salvatore Colicchio, Valentina Gnoni, Catello Vollono, Giuseppe Zampino, Gaetano Paludetti and Giacomo Della Marca

      Article first published online: 8 APR 2014 | DOI: 10.1002/ajmg.a.36557

  28. Research Letters

    1. A patient with Cantú syndrome associated with fatal bronchopulmonary dysplasia and pulmonary hypertension

      Jae Young Park, Soo Hyun Koo, Yu Jin Jung, Yun-Jung Lim and Mi Lim Chung

      Article first published online: 8 APR 2014 | DOI: 10.1002/ajmg.a.36563

    2. Confirmation of 6q21–6q22.1 deletion in Acro-cardio-facial syndrome and further delineation of this contiguous gene deletion syndrome

      Cindy Hudson, Corbin Schwanke, John P. Johnson, Abdallah F. Elias, Sandy Phillips, Tammy Schwalbe, Mary Tunby and Dongbin Xu

      Article first published online: 8 APR 2014 | DOI: 10.1002/ajmg.a.36548

  29. Clinical Reports

    1. Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl

      Nadia Boutry-Kryza, Dorothée Ville, Audrey Labalme, Alain Calender, Jean-Michel Dupont, Renaud Touraine, Patrick Edery, Vincent des Portes, Damien Sanlaville and Gaetan Lesca

      Article first published online: 8 APR 2014 | DOI: 10.1002/ajmg.a.36547

  30. Research Articles

    1. Parents' experiences of receiving their child's genetic diagnosis: A qualitative study to inform clinical genetics practice

      Setareh Ashtiani, Nancy Makela, Prescilla Carrion and Jehannine Austin

      Article first published online: 4 APR 2014 | DOI: 10.1002/ajmg.a.36525

  31. Clinical Reports

  32. Correspondence

    1. Response to Stanich et al.: Correspondence regarding—PTEN hamartoma tumor syndromes in childhood—Description of two cases and a proposal for follow-up protocol

      Maria Piccione, Tiziana Fragapane, Vincenzo Antona, Daniela Giachino, Francesco Cupido and Giovanni Corsello

      Article first published online: 3 APR 2014 | DOI: 10.1002/ajmg.a.36527

  33. Conference Reports

    1. Second International Conference on a classification of ectodermal dysplasias: Development of a multiaxis model

      Carlos F. Salinas, Alan D. Irvine, Peter H. Itin, John J. Di Giovanna, Holm Schneider, Angus J. Clarke, Laura Sternesky McGovern and Mary Fete

      Article first published online: 3 APR 2014 | DOI: 10.1002/ajmg.a.36507

  34. Correspondence

    1. Duplication of AKT3 is associated with macrocephaly and speech delay

      Brian K. Chung, Patrice Eydoux, Clara D. ∨an Karnebeek and William T. Gibson

      Article first published online: 3 APR 2014 | DOI: 10.1002/ajmg.a.36521

  35. Clinical Reports

    1. Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability

      Erica F. Andersen, Erin E. Baldwin, Sara Ellingwood, Rosemarie Smith and Allen N. Lamb

      Article first published online: 3 APR 2014 | DOI: 10.1002/ajmg.a.36524

  36. Invited Comments

    1. Academia, advocacy, and industry: A collaborative method for clinical research advancement

      Rena J. Vanzo, Amanda Lortz, Amy R. U. L. Calhoun and John C. Carey

      Article first published online: 3 APR 2014 | DOI: 10.1002/ajmg.a.36509

  37. Research Articles

    1. Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion

      Roberta Santos Guilherme, Karina Cunha Soares, Milena Simioni, Tarsis Paiva Vieira, Vera Lúcia Gil-da-Silva-Lopes, Chong Ae Kim, Décio Brunoni, Nancy Bettina Spinner, Laura Kathleen Conlin, Denise Maria Christofolini, Leslie Domenici Kulikowski, Carlos Eduardo Steiner and Maria Isabel Melaragno

      Article first published online: 3 APR 2014 | DOI: 10.1002/ajmg.a.36512

  38. Research Letters

    1. Papillary thyroid cancer in a patient with interstitial 6q25 deletion including ARID1B

      Jaime Vengoechea, Lori Carpenter and Yuri A. Zárate

      Article first published online: 3 APR 2014 | DOI: 10.1002/ajmg.a.36515

  39. Clinical Reports

    1. A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis—Further evidence of genotype–phenotype correlation

      Suzanne Drury, Christopher Boustred, Mehmet Tekman, Horia Stanescu, Robert Kleta, Nicholas Lench, Lyn S. Chitty and Richard H. Scott

      Article first published online: 3 APR 2014 | DOI: 10.1002/ajmg.a.36506

  40. Research Articles

    1. The Developmental Brain Disorders Database (DBDB): A curated neurogenetics knowledge base with clinical and research applications

      Ghayda M. Mirzaa, Kathleen J. Millen, A. James Barkovich, William B. Dobyns and Alex R. Paciorkowski

      Article first published online: 3 APR 2014 | DOI: 10.1002/ajmg.a.36517

  41. Research Letters

    1. Anterolateral diaphragmatic hernia with body wall defect understood in relation to the abaxial domain

      Anna M. Lehman, Jason R. Cowan, Deborah E. McFadden and Millan S. Patel

      Article first published online: 3 APR 2014 | DOI: 10.1002/ajmg.a.36529

  42. Clinical Reports

    1. Coffin-Siris syndrome: Phenotypic evolution of a novel SMARCA4 mutation

      Michael Tzeng, Christèle du Souich, Helen Wing-Hong Cheung and Cornelius F. Boerkoel

      Article first published online: 3 APR 2014 | DOI: 10.1002/ajmg.a.36533

    2. Compound heterozygous microdeletion of chromosome 15q13.3 region in a child with hypotonia, impaired vision, and global developmental delay

      Pankaj Prasun, Michael Hankerd, Melissa Kristofice, Lindsey Scussel, Lalitha Sivaswamy and Salah Ebrahim

      Article first published online: 3 APR 2014 | DOI: 10.1002/ajmg.a.36535

  43. Research Articles

    1. Epidemiology of fragile X syndrome: A systematic review and meta-analysis

      Jessica Hunter, Oliver Rivero-Arias, Angel Angelov, Edward Kim, Iain Fotheringham and Jose Leal

      Article first published online: 3 APR 2014 | DOI: 10.1002/ajmg.a.36511

  44. Clinical Reports

    1. Further phenotype description, genotype characterization in patients with de novo interstitial deletion on 2p23.2–24.1

      Mercedes Bloch, Anissa Leonard, Andreas A. Diplas, Xavier Pepermans, Beverly S. Emanuel, Maria Santa Rocca, Nicole Revencu and Yves Sznajer

      Article first published online: 3 APR 2014 | DOI: 10.1002/ajmg.a.36516

  45. Research Articles

    1. Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome

      Vittoria Disciglio, Caterina Lo Rizzo, Maria Antonietta Mencarelli, Mafalda Mucciolo, Annabella Marozza, Chiara Di Marco, Antonio Massarelli, Valentina Canocchi, Margherita Baldassarri, Enea Ndoni, Elisa Frullanti, Sonia Amabile, Britt Marie Anderlid, Kay Metcalfe, Cédric Le Caignec, Albert David, Alan Fryer, Odile Boute, Andrieux Joris, Donatella Greco, Vanna Pecile, Roberta Battini, Antonio Novelli, Marco Fichera, Corrado Romano, Francesca Mari and Alessandra Renieri

      Article first published online: 3 APR 2014 | DOI: 10.1002/ajmg.a.36513

    2. The WNT10A gene in ectodermal dysplasias and selective tooth agenesis

      Gabriele Mues, John Bonds, Lilin Xiang, Alexandre R. Vieira, Figen Seymen, Ophir Klein and Rena N. D'Souza

      Article first published online: 3 APR 2014 | DOI: 10.1002/ajmg.a.36520

    3. A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2

      María C. Barboza-Cerda, Lee-Jun Wong, Laura E. Martínez-de-Villarreal, Victor Wei Zhang and Miguel A. Déctor

      Article first published online: 3 APR 2014 | DOI: 10.1002/ajmg.a.36508

    4. Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: Expansion of the facial and neuroimaging features

      Beyhan Tüysüz, Kaya Bilguvar, Naci Koçer, Cengiz Yalçınkaya, Okay Çağlayan, Ece Gül, Sezgin Şahin, Sinan Çomu and Murat Günel

      Article first published online: 3 APR 2014 | DOI: 10.1002/ajmg.a.36514

    5. Evaluation of participant recruitment methods to a rare disease online registry

      Kimberly J. Johnson, Nancy L. Mueller, Katherine Williams and David H. Gutmann

      Article first published online: 3 APR 2014 | DOI: 10.1002/ajmg.a.36530

  46. Research Letters

    1. Excellent outcome with de novo 15q13.3 microdeletion causing infantile spasms—A further patient

      Nicholas M. Allen, Judith Conroy, Amre Shahwan, Sean Ennis, Bryan Lynch, Sally A. Lynch and Mary D. King

      Article first published online: 3 APR 2014 | DOI: 10.1002/ajmg.a.36532

  47. Research Articles

    1. Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations

      Piranit Nik Kantaputra, Hulya Kayserili, Yeliz Guven, Warissara Kantaputra, Mehmet C. Balci, Pranoot Tanpaiboon, Napaporn Tananuvat, Anusha Uttarilli and Ashwin Dalal

      Article first published online: 27 MAR 2014 | DOI: 10.1002/ajmg.a.36489

    2. Early presentation of cystic kidneys in a family with a homozygous INVS mutation

      Machteld M. Oud, Bregje W. van Bon, Ernie M. H. F. Bongers, Alexander Hoischen, Carlo L. Marcelis, Nicole de Leeuw, Suzanne J. J. Mol, Geert Mortier, Nine V. A. M. Knoers, Han G. Brunner, Ronald Roepman and Heleen H. Arts

      Article first published online: 26 MAR 2014 | DOI: 10.1002/ajmg.a.36501

    3. Risk of congenital heart disease in relatives of probands with conotruncal cardiac defects: An evaluation of 1,620 families

      Shabnam Peyvandi, Eitan Ingall, Stacy Woyciechowski, Jennifer Garbarini, Laura E. Mitchell and Elizabeth Goldmuntz

      Article first published online: 26 MAR 2014 | DOI: 10.1002/ajmg.a.36500

  48. Correspondence

  49. Clinical Reports

    1. FKBP14-related Ehlers-Danlos syndrome: Expansion of the phenotype to include vascular complications

      Mitzi L. Murray, Margaret Yang, Christine Fauth and Peter H. Byers

      Article first published online: 26 MAR 2014 | DOI: 10.1002/ajmg.a.36492

  50. Research Letters

    1. Formation of a familial ring chromosome 18 investigated by SNP-array analysis

      Sevim Balci, Johannes Zschocke, Dieter Kotzot, Mehmet Ali Ergün and Ana Spreiz

      Article first published online: 26 MAR 2014 | DOI: 10.1002/ajmg.a.36496

  51. Research Reviews

  52. Research Articles

    1. Autosomal dominant brachyolmia in a large Swedish family: Phenotypic spectrum and natural course

      Giedre Grigelioniene, Stefan Geiberger, Eva Horemuzova, Eva Moström, Nina Jäntti, Lo Neumeyer, Eva Åström, Magnus Nordenskjöld, Ann Nordgren and Outi Mäkitie

      Article first published online: 26 MAR 2014 | DOI: 10.1002/ajmg.a.36502

  53. Research Letters

    1. Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome

      Christopher T. Gordon, Christopher M. Cunniff, Glenn E. Green, Roseli Maria Zechi-Ceide, Jason M. Johnson, Alex Henderson, Florence Petit, Nancy Mizue Kokitsu-Nakata, Maria Leine Guion-Almeida, Arnold Munnich, Michael L. Cunningham, Stanislas Lyonnet and Jeanne Amiel

      Article first published online: 26 MAR 2014 | DOI: 10.1002/ajmg.a.36505

  54. Clinical Reports

    1. Cytogenomic and phenotypic analysis in low-level monosomy 7 mosaicism with non-supernumerary ring chromosome 7

      Consuelo Salas-Labadía, David E. Cervantes-Barragán, Roberto Cruz-Alcívar, Robert D. Daber, Laura K. Conlin, Laura D. Leonard, Nancy B. Spinner, Carola Durán-McKinster, David J. Dávila-Ortíz de Montellano, Victoria Del Castillo-Ruiz and Patricia Pérez-Vera

      Article first published online: 26 MAR 2014 | DOI: 10.1002/ajmg.a.36503

    2. Chromosomal-array analysis reveals partial 11q duplication and partial 12p deletion in a mildly affected case

      Esra Tuğ, Meral Yirmibeş Karaoğuz, Gülsüm Kayhan, Mehmet Ali Ergün and Ferda E. Perçin

      Article first published online: 26 MAR 2014 | DOI: 10.1002/ajmg.a.36495

  55. Research Articles

    1. Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability

      Stefan Johansson, Siren Berland, Gyri Aasland Gradek, Ernie Bongers, Nicole de Leeuw, Rolph Pfundt, Madeleine Fannemel, Olaug Rødningen, Atle Brendehaug, Bjørn Ivar Haukanes, Randi Hovland, Gunnar Helland and Gunnar Houge

      Article first published online: 26 MAR 2014 | DOI: 10.1002/ajmg.a.36498

  56. Clinical Reports

    1. Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome

      Antonín Šípek Jr., Lucie Grodecká, Alice Baxová, Petra Cibulková, Magdaléna Dvořáková, Stella Mazurová, Martin Magner, Jiří Zeman, Tomáš Honzík and Tomáš Freiberger

      Article first published online: 25 MAR 2014 | DOI: 10.1002/ajmg.a.36480

  57. Research Articles

    1. Lymphedema in tuberous sclerosis complex

      Alexandra L. Geffrey, Julianna E. Shinnick, Brigid A. Staley, Susana Boronat and Elizabeth A. Thiele

      Article first published online: 25 MAR 2014 | DOI: 10.1002/ajmg.a.36469

  58. Research Letters

  59. Clinical Reports

    1. L1CAM whole gene deletion in a child with L1 syndrome

      Brandalyn A. Chidsey, Erin E. Baldwin, Reha Toydemir, Lauren Ahles, Heather Hanson and David A. Stevenson

      Article first published online: 25 MAR 2014 | DOI: 10.1002/ajmg.a.36474

    2. Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: A differential diagnosis of ceroid lipofuscinosis

      Alice Masurel-Paulet, Isabelle Drumare, Muriel Holder, Jean-Marie Cuisset, Louis Vallée, Sabine Defoort, Béatrice Bourgois, Philippe Pernes, Jean-Christophe Cuvellier, Frédéric Huet, Salima El Chehadeh, Julien Thevenon, Patrick Callier, Christel Thauvin, Laurence Faivre and Joris Andrieux

      Article first published online: 25 MAR 2014 | DOI: 10.1002/ajmg.a.36471

  60. Research Articles

    1. Maternal smoking, xenobiotic metabolizing enzyme gene variants, and gastroschisis risk

      Mary M. Jenkins, Jennita Reefhuis, Margaret L. Gallagher, Jennifer G. Mulle, Thomas J. Hoffmann, Deborah A. Koontz, Cynthia Sturchio, Sonja A. Rasmussen, John S. Witte, Patricia Richter, Margaret A. Honein and the National Birth Defects Prevention Study

      Article first published online: 25 MAR 2014 | DOI: 10.1002/ajmg.a.36478

  61. Research Letters

    1. Chondrodysplasia punctata associated with maternal Sjögren syndrome

      Natalia Marin Huarte, Fernando Santos-Simarro, Ignacio Pastor Abascal, Sixto García-Miñaur and Felix Omeñaca

      Article first published online: 25 MAR 2014 | DOI: 10.1002/ajmg.a.36470

  62. Clinical Reports

  63. Research Articles

    1. Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta

      Joshi Stephen, Anju Shukla, Ashwin Dalal, Katta Mohan Girisha, Hitesh Shah, Neerja Gupta, Madhulika Kabra, Preeti Dabadghao and Shubha R. Phadke

      Article first published online: 25 MAR 2014 | DOI: 10.1002/ajmg.a.36481

  64. Clinical Reports

    1. A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency

      Estelle Dubruc, Audrey Putoux, Audrey Labalme, Christelle Rougeot, Damien Sanlaville and Patrick Edery

      Article first published online: 25 MAR 2014 | DOI: 10.1002/ajmg.a.36484

    2. De novo duplication of 17p13.1–p13.2 in a patient with intellectual disability and obesity

      Yukiko Kuroda, Ikuko Ohashi, Makiko Tominaga, Toshiyuki Saito, Jun-ichi Nagai, Kazumi Ida, Takuya Naruto, Mitsuo Masuno and Kenji Kurosawa

      Article first published online: 25 MAR 2014 | DOI: 10.1002/ajmg.a.36477

  65. Research Letters

    1. Whole genome sequencing identifies a novel occludin mutation in microcephaly with band-like calcification and polymicrogyria that extends the phenotypic spectrum

      Mahmoud F. Elsaid, Hussein Kamel, Nader Chalhoub, Nahla Abdel Aziz, Khalid Ibrahim, Tawfeg Ben-Omran, Binu George, Eman Al-Dous, Yasmin Mohamoud, Joel A. Malek, M. Elizabeth Ross and Alice Abdel Aleem

      Article first published online: 25 MAR 2014 | DOI: 10.1002/ajmg.a.36485

  66. Research Articles

    1. Craniofacial and dental development in Costello syndrome

      Alice F. Goodwin, Snehlata Oberoi, Maya Landan, Cyril Charles, Jessica C. Massie, Cecilia Fairley, Katherine A. Rauen and Ophir D. Klein

      Article first published online: 25 MAR 2014 | DOI: 10.1002/ajmg.a.36475

  67. Clinical Reports

    1. A cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature

      Lindsay A. Brown, Rosemarie Rupps, Maria S. Peñaherrera, Wendy P. Robinson, Millan S. Patel, Patrice Eydoux and Cornelius F. Boerkel

      Article first published online: 25 MAR 2014 | DOI: 10.1002/ajmg.a.36490

    2. Hyperphosphatemic familial tumoral calcinosis: Response to acetazolamide and postulated mechanisms

      Gal Finer, Heather E. Price, Richard M. Shore, Kenneth E. White and Craig B. Langman

      Article first published online: 25 MAR 2014 | DOI: 10.1002/ajmg.a.36476

    3. Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly

      Eissa A. Faqeih, Mohammed Al-Owain, Dilek Colak, Rosan Kenana, Yusra Al-Yafee, Mazhor Al-Dosary, Abdulaziz Al-Saman, Fadwa Albalawi, Dalia Al-Sarar, Dalia Domiaty, Maha Daghestani and Namik Kaya

      Article first published online: 25 MAR 2014 | DOI: 10.1002/ajmg.a.36482

    4. Cervical spine malformation in Cornelia de Lange syndrome: A report of three patients

      Laura Rachele Bettini, Laura Locatelli, Milena Mariani, Paola Cianci, Carlo Giussani, Francesco Canonico, Anna Cereda, Silvia Russo, Cristina Gervasini, Andrea Biondi and Angelo Selicorni

      Article first published online: 25 MAR 2014 | DOI: 10.1002/ajmg.a.36457

  68. Research Articles

    1. Holt–Oram syndrome with intermediate atrioventricular canal defect, and aortic coarctation: Functional characterization of a de novo TBX5 mutation

      Anwar Baban, Letizia Pitto, Silvia Pulignani, Monica Cresci, Laura Mariani, Carolina Gambacciani, Maria Cristina Digilio, Giacomo Pongiglione and Sonia Albanese

      Article first published online: 24 MAR 2014 | DOI: 10.1002/ajmg.a.36459

  69. Research Reviews

  70. Research Articles

    1. Relationship between whole-body tumor burden, clinical phenotype, and quality of life in patients with neurofibromatosis

      Vanessa L. Merker, Miriam A. Bredella, Wenli Cai, Ara Kassarjian, Gordon J. Harris, Alona Muzikansky, Rosa Nguyen, Victor F. Mautner and Scott R. Plotkin

      Article first published online: 24 MAR 2014 | DOI: 10.1002/ajmg.a.36466

    2. Outfoxed by RBFOX1-A caution about ascertainment bias

      Benjamin Kamien, Anath C. Lionel, Nicole Bain, Stephen W. Scherer and Matthew Hunter

      Article first published online: 24 MAR 2014 | DOI: 10.1002/ajmg.a.36458

    3. Modeling AEC—New approaches to study rare genetic disorders

      Peter J. Koch, Jason Dinella, Mary Fete, Elaine C. Siegfried and Maranke I. Koster

      Article first published online: 24 MAR 2014 | DOI: 10.1002/ajmg.a.36455

  71. Clinical Reports

    1. Maternal complex chromosomal rearrangement leads to TCF12 microdeletion in a patient presenting with coronal craniosynostosis and intellectual disability

      Pauline Le Tanno, Brice Poreau, Francoise Devillard, Gaëlle Vieville, Florence Amblard, Pierre-Simon Jouk, Véronique Satre and Charles Coutton

      Article first published online: 19 MAR 2014 | DOI: 10.1002/ajmg.a.36467

  72. Conference Reports

    1. Cornelia de Lange syndrome: Further delineation of phenotype, cohesin biology and educational focus, 5th Biennial Scientific and Educational Symposium abstracts

      Antonie D. Kline, Anne L. Calof, Cheri A. Schaaf, Ian D. Krantz, Soma Jyonouchi, Kyoko Yokomori, Maria Gauze, Cheri S. Carrico, Julie Woodman, Jennifer L. Gerton, Hugo Vega, Alex V. Levin, Katsuhiko Shirahige, Michele Champion, Marjorie T. Goodban, Julia T. O'Connor, Mary Pipan, Julia Horsfield, Matthew A. Deardorff, Stacey L. Ishman and Dale Dorsett

      Article first published online: 6 FEB 2014 | DOI: 10.1002/ajmg.a.36417

  73. Research Reviews

    1. Development of the Human Heart (page 000)

      Marc Sylva, Maurice J.B. van den Hoff and Antoon F.M. Moorman

      Article first published online: 30 APR 2013 | DOI: 10.1002/ajmg.a.35896

  74. Research Articles

    1. Development of the Human Aortic Arch System Captured in an Interactive Three-Dimensional Reference Model

      M. Sameer Rana, Aleksander Sizarov, Vincent M. Christoffels and Antoon F.M. Moorman

      Article first published online: 23 APR 2013 | DOI: 10.1002/ajmg.a.35881

  75. Clinical Reports

    1. Oculo-Auriculo-Vertebral Spectrum, Cat Eye, and Distal 22q11 Microdeletion Syndromes: A Unique Double Rearrangement

      Erin E. Torti, Stephen R. Braddock, Kristen Bernreuter and Jacqueline R. Batanian

      Article first published online: 29 MAR 2013 | DOI: 10.1002/j.1552-4833.2013.35918.x

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