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There are 14731 results for: content related to: Agenesis and dysgenesis of the corpus callosum: Clinical, genetic and neuroimaging findings in a series of 41 patients

  1. Pseudohypoparathyroidism type 1a and the GNAS p.R231H mutation: Somatic mosaicism in a mother with two affected sons

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 11, November 2010, Pages: 2784–2790, Ying Fai Ngai, Chieko Chijiwa, Saadet Mercimek-Mahmutoglu, Laura Stewart, Siu-Li Yong, Wendy P. Robinson and William T. Gibson

    Article first published online : 26 OCT 2010, DOI: 10.1002/ajmg.a.33172

  2. Growth hormone therapy and scoliosis in patients with Prader–Willi syndrome

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 15, 1 August 2006, Pages: 1623–1627, T. Nagai, K. Obata, T. Ogata, N. Murakami, Y. Katada, A. Yoshino, S. Sakazume, Y. Tomita, R. Sakuta and N. Niikawa

    Article first published online : 12 JUN 2006, DOI: 10.1002/ajmg.a.31295

  3. Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 7, July 2012, Pages: 1633–1640, Gaelle Thierry, Claire Bénéteau, Olivier Pichon, Elisabeth Flori, Bertrand Isidor, Françoise Popelard, Marie-Ange Delrue, Laetitia Duboscq-Bidot, Ann-Charlotte Thuresson, Bregje W.M. van Bon, Dorothée Cailley, Caroline Rooryck, Agathe Paubel, Corinne Metay, Anne Dusser, Laurent Pasquier, Mylène Béri, Céline Bonnet, Sylvie Jaillard, Christèle Dubourg, Bassim Tou, Marie-Pierre Quéré, Cecilia Soussi-Zander, Annick Toutain, Didier Lacombe, Benoit Arveiler, Bert B.A. de Vries, Philippe Jonveaux, Albert David and Cédric Le Caignec

    Article first published online : 7 JUN 2012, DOI: 10.1002/ajmg.a.35423

  4. Long-term follow-up of a 26-year-old male with duplication of 16p: Clinical report and review

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 4, 15 February 2007, Pages: 399–408, Mascha K. Rochat, Mariluce Riegel and Albert A. Schinzel

    Article first published online : 17 JAN 2007, DOI: 10.1002/ajmg.a.31605

  5. Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C

    American Journal of Medical Genetics Part A

    Volume 155, Issue 4, April 2011, Pages: 706–716, Karen W. Gripp, Elizabeth Hopkins, Katia Sol-Church, Deborah L. Stabley, Marni E. Axelrad, Daniel Doyle, William B. Dobyns, Cindy Hudson, John Johnson, Romano Tenconi, Gail E. Graham, Ana Berta Sousa, Raoul Heller, Maria Piccione, Giovanni Corsello, Gail E. Herman, Marco Tartaglia and Angela E. Lin

    Article first published online : 15 MAR 2011, DOI: 10.1002/ajmg.a.33884

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    Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 19, 1 October 2006, Pages: 2039–2049, Diana Mitter, Karin Buiting, Ferdinand von Eggeling, Alma Kuechler, Thomas Liehr, Ulrike Angelika Mau-Holzmann, Eva-Christina Prott, Dagmar Wieczorek and Gabriele Gillessen-Kaesbach

    Article first published online : 11 AUG 2006, DOI: 10.1002/ajmg.a.31414

  7. Model averaging in linkage analysis

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 141B, Issue 4, 5 June 2006, Pages: 344–353, Steven Matthysse

    Article first published online : 1 MAY 2006, DOI: 10.1002/ajmg.b.30256

  8. A phenotype map for 14q32.3 terminal deletions

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 4, April 2012, Pages: 695–706, Hartmut Engels, Herdit M. Schüler, Alexander M. Zink, Eva Wohlleber, Antje Brockschmidt, Alexander Hoischen, Matthias Drechsler, Jennifer A. Lee, Kerstin U. Ludwig, Christian Kubisch, Gesa Schwanitz, Ruthild G. Weber, Barbara Leube, Raoul C. M. Hennekam, Sabine Rudnik-Schöneborn, Martina Kreiß-Nachtsheim and Heiko Reutter

    Article first published online : 24 FEB 2012, DOI: 10.1002/ajmg.a.35256

  9. Spondylometaphyseal dysplasia with cone-rod dystrophy

    American Journal of Medical Genetics Part A

    Volume 129A, Issue 3, 1 September 2004, Pages: 265–276, Brent A. Walters, Michael L. Raff, James Ver Hoeve, Rachel Tesser, Leonard O. Langer, Thomas D. France, Ian A. Glass and Richard M. Pauli

    Article first published online : 21 JUL 2004, DOI: 10.1002/ajmg.a.30145

  10. A novel mutation (E767K) in the second extracellular loop of the calcium sensing receptor in a family with autosomal dominant hypocalcemia

    American Journal of Medical Genetics Part A

    Volume 132A, Issue 2, 15 January 2005, Pages: 125–129, Ayşin Uçkun-Kitapçi, Louis E. Underwood, Jihui Zhang and Billie Moats-Staats

    Article first published online : 18 NOV 2004, DOI: 10.1002/ajmg.a.30403

  11. Four unrelated patients with lubs X-linked mental retardation syndrome and different Xq28 duplications

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 2, February 2010, Pages: 305–312, Oliver Bartsch, Konstanze Gebauer, Stanislav Lechno, Hilde van Esch, Guy Froyen, Michael Bonin, Jörg Seidel, Barbara Thamm-Mücke, Denise Horn, Eva Klopocki, Christoph Hertzberg, Ulrich Zechner and Thomas Haaf

    Article first published online : 15 JAN 2010, DOI: 10.1002/ajmg.a.33198

  12. You have free access to this content
    RMRP mutations in cartilage-hair hypoplasia

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 19, 1 October 2006, Pages: 2121–2130, Pia Hermanns, Alyssa Tran, Elda Munivez, Susan Carter, Bernhard Zabel, Brendan Lee and Jules G. Leroy

    Article first published online : 12 JUL 2006, DOI: 10.1002/ajmg.a.31331

  13. Expanded clinical spectrum of spondylocarpotarsal synostosis syndrome and possible manifestation in a heterozygous father

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 6, 15 March 2008, Pages: 779–783, Diana Mitter, Deborah Krakow, Claire Farrington-Rock and Peter Meinecke

    Article first published online : 6 FEB 2008, DOI: 10.1002/ajmg.a.32230

  14. A genome-wide screen for copy number alterations in Aicardi syndrome

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 10, October 2009, Pages: 2113–2121, Xiaoling Wang, V. Reid Sutton, Tanya N. Eble, Richard Alan Lewis, Preethi Gunaratne, Ankita Patel and Ignatia B. Van den Veyver

    Article first published online : 16 SEP 2009, DOI: 10.1002/ajmg.a.32976

  15. Wiedemann–Steiner syndrome: Three further cases

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 9, September 2010, Pages: 2372–2375, Rainer Koenig, Peter Meinecke, Alma Kuechler, Dieter Schäfer and Dietmar Müller

    Article first published online : 20 AUG 2010, DOI: 10.1002/ajmg.a.33587

  16. Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein–Taybi syndrome

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 1, January 2010, Pages: 181–184, Oliver Bartsch, Janette Labonté, Beate Albrecht, Dagmar Wieczorek, Stanislav Lechno, Ulrich Zechner and Thomas Haaf

    Article first published online : 14 DEC 2009, DOI: 10.1002/ajmg.a.33153

  17. Temple–Baraitser syndrome: A rare and possibly unrecognized condition

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 9, September 2010, Pages: 2322–2326, Adeline Jacquinet, Marion Gérard, Michael T. Gabbett, Léon Rausin, Jean-Paul Misson, Björn Menten, Geert Mortier, Lionel Van Maldergem, Alain Verloes and François-Guillaume Debray

    Article first published online : 3 AUG 2010, DOI: 10.1002/ajmg.a.33574

  18. Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: Transmission through four generations

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 4, April 2010, Pages: 807–814, Katherine A. Rauen, William E. Tidyman, Anne L. Estep, Srirangan Sampath, Henry M. Peltier, Sherri J. Bale and Yves Lacassie

    Article first published online : 26 MAR 2010, DOI: 10.1002/ajmg.a.33342

  19. Statistical confirmation of negative results of association studies in genetic epidemiology

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 128B, Issue 1, 1 July 2004, Pages: 126–130, S. Wellek and G. Schumann

    Article first published online : 22 MAR 2004, DOI: 10.1002/ajmg.b.30012

  20. Gastroschisis: International epidemiology and public health perspectives

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

    Volume 148C, Issue 3, 15 August 2008, Pages: 162–179, Eduardo E. Castilla, Pierpaolo Mastroiacovo and Iêda M. Orioli

    Article first published online : 24 JUL 2008, DOI: 10.1002/ajmg.c.30181