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There are 15651 results for: content related to: Phenotypic Spectrum of Simpson– G olabi– B ehmel Syndrome in a Series of 42 Cases With a Mutation in GPC 3 and Review of the Literature

  1. A patient with a unique frameshift mutation in GPC3, causing Simpson–Golabi–Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle

    American Journal of Medical Genetics Part A

    Volume 161, Issue 12, December 2013, Pages: 3121–3125, Diana D. Villarreal, Humberto Villarreal, Ana Maria Paez, Dennis Peppas, Jane Lynch, Elizabeth Roeder and George C. Powers

    Version of Record online : 2 OCT 2013, DOI: 10.1002/ajmg.a.36086

  2. Molecular analysis of a novel intragenic deletion in GPC3 in three cousins with Simpson–Golabi–Behmel syndrome

    American Journal of Medical Genetics Part A

    Volume 173, Issue 5, May 2017, Pages: 1400–1405, Julia Schmidt, Ronja Hollstein, Frank J. Kaiser and Gabriele Gillessen-Kaesbach

    Version of Record online : 29 MAR 2017, DOI: 10.1002/ajmg.a.38188

  3. A patient with Simpson–Golabi–Behmel syndrome, biliary cirrhosis and successful liver transplantation

    American Journal of Medical Genetics Part A

    Volume 164, Issue 3, March 2014, Pages: 774–777, Guillaume Jedraszak, Muriel Girard, Antonio Mellos, Djamal-Dine Djeddi, Christophe Chardot, Audrey Vanrenterghem, Marie-Pierre Moizard, Jean Gondry, Henri Sevestre, Michele Mathieu-Dramard, Florence Lacaille and Benedicte Demeer

    Version of Record online : 19 DEC 2013, DOI: 10.1002/ajmg.a.36335

  4. Twenty-one years to the right diagnosis – clinical overlap of Simpson–Golabi–Behmel and Beckwith–Wiedemann syndrome

    American Journal of Medical Genetics Part A

    Volume 167, Issue 1, January 2015, Pages: 151–155, C. Knopp, S. Rudnik-Schöneborn, K. Zerres, M. Gencik, S. Spengler and T. Eggermann

    Version of Record online : 22 OCT 2014, DOI: 10.1002/ajmg.a.36825

  5. Simpson–Golabi–Behmel Syndrome Type 1 and Hepatoblastoma in a Patient With a Novel Exon 2–4 Duplication of the GPC3 Gene

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, 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

    Version of Record online : 5 MAR 2013, DOI: 10.1002/ajmg.a.35738

  6. Review of X-linked syndromes with arthrogryposis or early contractures—aid to diagnosis and pathway identification

    American Journal of Medical Genetics Part A

    Volume 167, Issue 5, May 2015, Pages: 931–973, Jesse M. Hunter, Jeff Kiefer, Christopher D. Balak, Sonya Jooma, Mary Ellen Ahearn, Judith G. Hall and Lisa Baumbach-Reardon

    Version of Record online : 19 MAR 2015, DOI: 10.1002/ajmg.a.36934

  7. A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2

    American Journal of Medical Genetics Part A

    Volume 170, Issue 2, February 2016, Pages: 392–402, Christine Fauth, Katharina Steindl, Annick Toutain, Sandra Farrell, Martina Witsch-Baumgartner, Daniela Karall, Pascal Joset, Sebastian Böhm, Alessandra Baumer, Oliver Maier, Johannes Zschocke, Rosanna Weksberg, Christian R. Marshall and Anita Rauch

    Version of Record online : 6 NOV 2015, DOI: 10.1002/ajmg.a.37452

  8. Prenatal diagnosis of Simpson–Golabi–Behmel syndrome

    American Journal of Medical Genetics Part A

    Volume 170, Issue 12, December 2016, Pages: 3258–3264, Pamela Magini, Flavia Palombo, Simona Boito, Giulia Lanzoni, Patrizia Mongelli, Tommaso Rizzuti, Marco Baccarin, Tommaso Pippucci, Marco Seri and Faustina Lalatta

    Version of Record online : 9 SEP 2016, DOI: 10.1002/ajmg.a.37873

  9. Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson–Golabi–Behmel syndrome and germline GPC3 mutation

    American Journal of Medical Genetics Part A

    Volume 164, Issue 4, April 2014, Pages: 993–997, Rika Kosaki, Toshiki Takenouchi, Noriko Takeda, Masayo Kagami, Kazuhiko Nakabayashi, Kenichiro Hata and Kenjiro Kosaki

    Version of Record online : 23 JAN 2014, DOI: 10.1002/ajmg.a.36364

  10. Distinctive findings in a boy with Simpson–Golabi–Behmel syndrome

    American Journal of Medical Genetics Part A

    Volume 170, Issue 4, April 2016, Pages: 1035–1039, Soumeyya Halayem, Mariem Hamza, Faouzi Maazoul, Hadhemi Ben Turkia, Maissa Touati, Neji Tebib, Ridha Mrad and Asma Bouden

    Version of Record online : 22 DEC 2015, DOI: 10.1002/ajmg.a.37518

  11. Duplication of exon 2 of the GPC3 gene in a case of Simpson-Golabi-Behmel syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 1, January 2014, Pages: 282–284, Edouard Cottereau, Marie-Pierre Moizard, Albert David, Martine Raynaud, Nadine Marmin and Annick Toutain

    Version of Record online : 8 NOV 2013, DOI: 10.1002/ajmg.a.36199

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    Simpson–Golabi–Behmel syndrome in a female: A case report and an unsolved issue

    American Journal of Medical Genetics Part A

    Volume 173, Issue 1, January 2017, Pages: 285–288, Alessandro Vaisfeld, Maria Grazia Pomponi, Roberta Pietrobono, Elisabetta Tabolacci and Giovanni Neri

    Version of Record online : 14 OCT 2016, DOI: 10.1002/ajmg.a.38003

  13. Simpson–Golabi–Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: The diagnostic value of rib malformations and index nail and finger hypoplasia

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 9, September 2012, Pages: 2245–2249, Livia Garavelli, Giancarlo Gargano, Graziella Simonte, Simonetta Rosato, Anita Wischmeijer, Nives Melli, Silvia Braibanti, Chiara Gelmini, Francesca Forzano, Roberta Pietrobono, Maria Grazia Pomponi, Elena Andreucci, Annick Toutain, Andrea Superti-Furga and Giovanni Neri

    Version of Record online : 17 JUL 2012, DOI: 10.1002/ajmg.a.35474

  14. Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome

    American Journal of Medical Genetics Part A

    Volume 138A, Issue 3, 15 October 2005, Pages: 272–277, Germán Rodríguez-Criado, Luis Magano, Mabel Segovia, Fiorella Gurrieri, Giovanni Neri, Antonio González-Meneses, Ignacio Gómez de Terreros, Rita Valdéz, Ricardo Gracia and Pablo Lapunzina

    Version of Record online : 12 SEP 2005, DOI: 10.1002/ajmg.a.30920

  15. Cardiac anomalies in the Simpson-Golabi-Behmel syndrome

    American Journal of Medical Genetics

    Volume 83, Issue 5, 23 April 1999, Pages: 378–381, Angela E. Lin, Giovanni Neri, Rhiannon Hughes-Benzie and Rosanna Weksberg

    Version of Record online : 5 APR 1999, DOI: 10.1002/(SICI)1096-8628(19990423)83:5<378::AID-AJMG7>3.0.CO;2-A

  16. Childhood cancer predisposition syndromes—A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology

    American Journal of Medical Genetics Part A

    Volume 173, Issue 4, April 2017, Pages: 1017–1037, Tim Ripperger, Stefan S. Bielack, Arndt Borkhardt, Ines B. Brecht, Birgit Burkhardt, Gabriele Calaminus, Klaus-Michael Debatin, Hedwig Deubzer, Uta Dirksen, Cornelia Eckert, Angelika Eggert, Miriam Erlacher, Gudrun Fleischhack, Michael C. Frühwald, Astrid Gnekow, Gudrun Goehring, Norbert Graf, Helmut Hanenberg, Julia Hauer, Barbara Hero, Simone Hettmer, Katja von Hoff, Martin Horstmann, Juliane Hoyer, Thomas Illig, Peter Kaatsch, Roland Kappler, Kornelius Kerl, Thomas Klingebiel, Udo Kontny, Uwe Kordes, Dieter Körholz, Ewa Koscielniak, Christof M. Kramm, Michaela Kuhlen, Andreas E. Kulozik, Britta Lamottke, Ivo Leuschner, Dietmar R. Lohmann, Andrea Meinhardt, Markus Metzler, Lüder H. Meyer, Olga Moser, Michaela Nathrath, Charlotte M. Niemeyer, Rainer Nustede, Kristian W. Pajtler, Claudia Paret, Mareike Rasche, Dirk Reinhardt, Olaf Rieß, Alexandra Russo, Stefan Rutkowski, Brigitte Schlegelberger, Dominik Schneider, Reinhard Schneppenheim, Martin Schrappe, Christopher Schroeder, Dietrich von Schweinitz, Thorsten Simon, Monika Sparber-Sauer, Claudia Spix, Martin Stanulla, Doris Steinemann, Brigitte Strahm, Petra Temming, Kathrin Thomay, Andre O. von Bueren, Peter Vorwerk, Olaf Witt, Marcin Wlodarski, Willy Wössmann, Martin Zenker, Stefanie Zimmermann, Stefan M. Pfister and Christian P. Kratz

    Version of Record online : 7 FEB 2017, DOI: 10.1002/ajmg.a.38142

  17. Paternal germline mosaicism for a GPC3 deletion in X-linked Simpson-Golabi-Behmel syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 10, October 2014, Pages: 2682–2684, Ron Agatep, Cheryl Shuman, Leslie Steele, Nicole Parkinson, Rosanna Weksberg and Tracy L. Stockley

    Version of Record online : 29 JUL 2014, DOI: 10.1002/ajmg.a.36682

  18. GPC3 mutations in seven patients with Simpson–Golabi–Behmel syndrome

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 15, 1 August 2007, Pages: 1703–1707, Satoru Sakazume, Nobuhiko Okamoto, Toshiyuki Yamamoto, Kenji Kurosawa, Hironao Numabe, Yuko Ohashi, Yuko Kako, Toshiro Nagai and Hirohumi Ohashi

    Version of Record online : 29 JUN 2007, DOI: 10.1002/ajmg.a.31822

  19. Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome

    American Journal of Medical Genetics

    Volume 79, Issue 4, 2 October 1998, Pages: 279–283, Giovanni Neri, Fiorella Gurrieri, Ginevra Zanni and Angela Lin

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19981002)79:4<279::AID-AJMG9>3.0.CO;2-H

  20. Genital anomalies in three male siblings with Simpson–Golabi–Behmel syndrome

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 11, November 2009, Pages: 2484–2488, Christopher B. Griffith, Richard C. Probert and Gail H. Vance

    Version of Record online : 19 OCT 2009, DOI: 10.1002/ajmg.a.33047