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There are 12668 results for: content related to: “Mandibulofacial dysostosis with microcephaly” caused by EFTUD2 mutations: Expanding the phenotype

  1. Delineation of EFTUD2 Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients

    Human Mutation

    Volume 35, Issue 4, April 2014, Pages: 478–485, Daphné Lehalle, Christopher T. Gordon, Myriam Oufadem, Géraldine Goudefroye, Lucile Boutaud, Jean-Luc Alessandri, Neus Baena, Geneviève Baujat, Clarisse Baumann, Odile Boute-Benejean, Roseline Caumes, Charles Decaestecker, Dominique Gaillard, Alice Goldenberg, Marie Gonzales, Muriel Holder-Espinasse, Marie-Line Jacquemont, Didier Lacombe, Sylvie Manouvrier-Hanu, Sandrine Marlin, Michèle Mathieu-Dramard, Gilles Morin, Laurent Pasquier, Florence Petit, Marlène Rio, Robert Smigiel, Christel Thauvin-Robinet, Alexandre Vasiljevic, Alain Verloes, Valérie Malan, Arnold Munnich, Loïc de Pontual, Michel Vekemans, Stanislas Lyonnet, Tania Attié-Bitach and Jeanne Amiel

    Version of Record online : 5 MAR 2014, DOI: 10.1002/humu.22517

  2. Human facial dysostoses

    Clinical Genetics

    Volume 83, Issue 6, June 2013, Pages: 499–510, D Wieczorek

    Version of Record online : 8 APR 2013, DOI: 10.1111/cge.12123

  3. Molecular Genetics of Human Facial Dysostoses

    Standard Article

    eLS

    Johanna Christina Czeschik and Dagmar Wieczorek

    Published Online : 16 JUN 2014, DOI: 10.1002/9780470015902.a0025451

  4. EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 103, Issue 7, July 2015, Pages: 630–640, Brett Deml, Linda M. Reis, Sanaa Muheisen, David Bick and Elena V. Semina

    Version of Record online : 27 JUN 2015, DOI: 10.1002/bdra.23397

  5. Array-CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly

    Clinical Genetics

    Volume 87, Issue 1, January 2015, Pages: 80–84, S.K. Gandomi, M. Parra, D. Reeves, V. Yap and C.-L. Gau

    Version of Record online : 20 DEC 2013, DOI: 10.1111/cge.12328

  6. Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

    Human Mutation

    Volume 37, Issue 2, February 2016, Pages: 148–154, Lijia Huang, Megan R. Vanstone, Taila Hartley, Matthew Osmond, Nick Barrowman, Judith Allanson, Laura Baker, Tabib A. Dabir, Katrina M. Dipple, William B. Dobyns, Jane Estrella, Hanna Faghfoury, Francine P. Favaro, Himanshu Goel, Pernille A. Gregersen, Karen W. Gripp, Art Grix, Maria-Leine Guion-Almeida, Margaret H. Harr, Cindy Hudson, Alasdair G.W. Hunter, John Johnson, Shelagh K. Joss, Amy Kimball, Usha Kini, Antonie D. Kline, Julie Lauzon, Dorte L. Lildballe, Vanesa López-González, Johanna Martinezmoles, Cliff Meldrum, Ghayda M. Mirzaa, Chantal F. Morel, Jenny E.V. Morton, Louise C. Pyle, Fabiola Quintero-Rivera, Julie Richer, Angela E. Scheuerle, Bitten Schönewolf-Greulich, Deborah J. Shears, Josh Silver, Amanda C. Smith, I. Karen Temple, UCLA Clinical Genomics Center, Jiddeke M. van de Kamp, Fleur S. van Dijk, Anthony M. Vandersteen, Sue M. White, Elaine H. Zackai, Ruobing Zou, Care4Rare Canada Consortium, Dennis E. Bulman, Kym M. Boycott and Matthew A. Lines

    Version of Record online : 19 NOV 2015, DOI: 10.1002/humu.22924

  7. A review of craniofacial disorders caused by spliceosomal defects

    Clinical Genetics

    Volume 88, Issue 5, November 2015, Pages: 405–415, D. Lehalle, D. Wieczorek, R.M. Zechi-Ceide, M.R. Passos-Bueno, S. Lyonnet, J. Amiel and C.T. Gordon

    Version of Record online : 1 MAY 2015, DOI: 10.1111/cge.12596

  8. 35th Annual David W Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2014 Annual Meeting

    American Journal of Medical Genetics Part A

    Volume 167, Issue 8, August 2015, Pages: 1685–1740, Stephen R. Braddock, Robert J. Lipinski, Marc S. Williams and John C. Carey

    Version of Record online : 22 MAY 2015, DOI: 10.1002/ajmg.a.37107

  9. You have free access to this content
    Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: A mandibulofacial dysostosis distinct from Treacher Collins syndrome

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 5, May 2009, Pages: 837–843, Dagmar Wieczorek, Blanca Gener, Ma Jesús Martínez González, Saskia Seland, Sven Fischer, Ute Hehr, Alma Kuechler, Lies H. Hoefsloot, Nicole de Leeuw, Gabriele Gillessen-Kaesbach and Dietmar R. Lohmann

    Version of Record online : 30 MAR 2009, DOI: 10.1002/ajmg.a.32747

  10. Mandibulofacial dysostosis, microtia, and limb anomalies in a newborn: a new form of acrofacial dysostosis syndrome?

    Clinical Genetics

    Volume 78, Issue 6, December 2010, Pages: 570–574, Y Zhang, Y Dai, Y Liu and J Ren

    Version of Record online : 2 NOV 2010, DOI: 10.1111/j.1399-0004.2010.01427.x

  11. Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome

    American Journal of Medical Genetics Part A

    Volume 167, Issue 4, April 2015, Pages: 914–918, Arindam Sarkar, Lisa T. Emrick, Eboni M. Smith, Elise G. Austin, Yaping Yang, Jill V. Hunter, Fernando Scaglia and Seema R. Lalani

    Version of Record online : 3 MAR 2015, DOI: 10.1002/ajmg.a.36948

  12. Facial dysostoses: Etiology, pathogenesis and management

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 163, Issue 4, November 2013, Pages: 283–294, Paul A. Trainor and Brian T. Andrews

    Version of Record online : 4 OCT 2013, DOI: 10.1002/ajmg.c.31375

  13. Acrofacial dysostosis of unknown type: Nosology of the acrofacial dysostoses

    American Journal of Medical Genetics

    Volume 56, Issue 2, 27 March 1995, Pages: 155–160, Dr. Sabine Preis, Inge Raymaekers-Buntinx and Frank Majewski

    Version of Record online : 7 JUN 2005, DOI: 10.1002/ajmg.1320560208

  14. Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 10, 15 May 2007, Pages: 1053–1059, David A. Stevenson, Steven B. Bleyl, Teresa Maxwell, Arthur R. Brothman and Sarah T. South

    Version of Record online : 12 APR 2007, DOI: 10.1002/ajmg.a.31715

  15. Midtrimester sonographic diagnosis of mandibulofacial dysostosis

    American Journal of Medical Genetics

    Volume 25, Issue 2, October 1986, Pages: 251–255, James P. Crane, Heidi A. Beaver and James F. Reynolds

    Version of Record online : 4 JUN 2005, DOI: 10.1002/ajmg.1320250209

  16. Acrofacial dysostoses: Review and report of a previously undescribed condition: The autosomal or X-linked dominant catania form of acrofacial dysostosis

    American Journal of Medical Genetics

    Volume 47, Issue 5, 1 October 1993, Pages: 660–678, John M. Opitz, Florindo Mollica, Giovanni Sorge, Gabriella Milana, Gabriella Cimino and Mario Caltabiano

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.1320470517

  17. Mandibulofacial dysostosis (Treacher-Collins syndrome) in the fetus: Novel association with pectus carinatum in a molecularly confirmed case and review of the fetal phenotype

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 97, Issue 12, December 2013, Pages: 774–780, Anastasia E. Konstantinidou, Jason Tasoulas, Georgios Kallipolitis, Spyros Gasparatos, Voula Velissariou and Helen Paraskevakou

    Version of Record online : 29 NOV 2013, DOI: 10.1002/bdra.23202

  18. Diamond–Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28

    American Journal of Medical Genetics Part A

    Volume 164, Issue 9, September 2014, Pages: 2240–2249, Karen W. Gripp, Cynthia Curry, Ann Haskins Olney, Claudio Sandoval, Jamie Fisher, Jessica Xiao-Ling Chong, UW Center for Mendelian Genomics, Lisa Pilchman, Rebecca Sahraoui, Deborah L. Stabley and Katia Sol-Church

    Version of Record online : 18 JUN 2014, DOI: 10.1002/ajmg.a.36633

  19. Acrofacial dysostosis (Nager syndrome): Synopsis and report of a new case

    American Journal of Medical Genetics

    Volume 15, Issue 2, June 1983, Pages: 255–260, R. A. Pfeiffer, H. Stoess and John M. Opitz

    Version of Record online : 2 JUN 2005, DOI: 10.1002/ajmg.1320150208

  20. Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome

    American Journal of Medical Genetics Part A

    Volume 129A, Issue 1, 15 August 2004, Pages: 73–76, Shelley J. Kennedy and Ahmad S. Teebi

    Version of Record online : 20 MAY 2004, DOI: 10.1002/ajmg.a.30113