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There are 11210 results for: content related to: The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis

  1. Analysis of genotype–phenotype correlations in human holoprosencephaly

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

    Volume 154C, Issue 1, 15 February 2010, Pages: 133–141, Benjamin D. Solomon, Sandra Mercier, Jorge I. Vélez, Daniel E. Pineda-Alvarez, Adrian Wyllie, Nan Zhou, Christèle Dubourg, Veronique David, Sylvie Odent, Erich Roessler and Maximilian Muenke

    Article first published online : 26 JAN 2010, DOI: 10.1002/ajmg.c.30240

  2. Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype–phenotype correlations

    Human Mutation

    Volume 24, Issue 1, July 2004, Pages: 43–51, Christèle Dubourg, Leïla Lazaro, Laurent Pasquier, Claude Bendavid, Martine Blayau, Franck Le Duff, Marie-Renée Durou, Sylvie Odent and Véronique David

    Article first published online : 2 JUN 2004, DOI: 10.1002/humu.20056

  3. The molecular genetics of holoprosencephaly

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

    Volume 154C, Issue 1, 15 February 2010, Pages: 52–61, Erich Roessler and Maximilian Muenke

    Article first published online : 26 JAN 2010, DOI: 10.1002/ajmg.c.30236

  4. Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients

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

    Volume 154C, Issue 1, 15 February 2010, Pages: 93–101, Daniel E. Pineda-Alvarez, Christèle Dubourg, Véronique David, Erich Roessler and Maximilian Muenke

    Article first published online : 26 JAN 2010, DOI: 10.1002/ajmg.c.30253

  5. Genetic counseling and “molecular” prenatal diagnosis of holoprosencephaly (HPE)

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

    Volume 154C, Issue 1, 15 February 2010, Pages: 191–196, Sandra Mercier, Christèle Dubourg, Marion Belleguic, Laurent Pasquier, Philippe Loget, Josette Lucas, Claude Bendavid and Sylvie Odent

    Article first published online : 26 JAN 2010, DOI: 10.1002/ajmg.c.30246

  6. Holoprosencephaly

    Management of Genetic Syndromes

    Andrea L. Gropman, Maximilian Muenke, Pages: 441–460, 2010

    Published Online : 17 MAY 2010, DOI: 10.1002/9780470893159.ch30

  7. Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 5, May 2010, Pages: 1310–1313, Preeti Bakrania, Sibel A. Ugur Iseri, Alexander W. Wyatt, Dave J. Bunyan, Wayne W.K. Lam, Alison Salt, Jacqueline Ramsay, David O. Robinson and Nicola K. Ragge

    Article first published online : 13 APR 2010, DOI: 10.1002/ajmg.a.33239

  8. Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: An updated map of candidate loci

    Human Mutation

    Volume 30, Issue 8, August 2009, Pages: 1175–1182, Claude Bendavid, Lucie Rochard, Christèle Dubourg, Jonathan Seguin, Isabelle Gicquel, Laurent Pasquier, Jaqueline Vigneron, Annie Laquerrière, Pascale Marcorelles, Corinne Jeanne-Pasquier, Caroline Rouleau, Sylvie Jaillard, Jean Mosser, Sylvie Odent and Veronique David

    Article first published online : 18 MAR 2009, DOI: 10.1002/humu.21016

  9. Holoprosencephaly: An update on cytogenetic abnormalities

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

    Volume 154C, Issue 1, 15 February 2010, Pages: 86–92, Claude Bendavid, Valérie Dupé, Lucie Rochard, Isabelle Gicquel, Christèle Dubourg and Véronique David

    Article first published online : 26 JAN 2010, DOI: 10.1002/ajmg.c.30250

  10. The hedgehog signaling network

    American Journal of Medical Genetics Part A

    Volume 123A, Issue 1, November 15, 2003, Pages: 5–28, M. Michael Cohen, Jr.

    Article first published online : 19 SEP 2003, DOI: 10.1002/ajmg.a.20495

  11. A novel SIX3 mutation segregates with holoprosencephaly in a large family

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 5, May 2009, Pages: 919–925, Benjamin D. Solomon, Felicitas Lacbawan, Mahim Jain, Sabina Domené, Erich Roessler, Cynthia Moore, William B. Dobyns and Maximilian Muenke

    Article first published online : 7 APR 2009, DOI: 10.1002/ajmg.a.32813

  12. Abnormal sterol metabolism in holoprosencephaly

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

    Volume 154C, Issue 1, 15 February 2010, Pages: 102–108, Dorothea Haas and Maximilian Muenke

    Article first published online : 26 JAN 2010, DOI: 10.1002/ajmg.c.30243

  13. Single median maxillary central incisor: New data and mutation review

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 79, Issue 8, August 2007, Pages: 573–580, Kênia B. El-Jaick, Renata F. Fonseca, Miguel A. Moreira, Márcia G. Ribeiro, Ana M. Bolognese, Sânia O. Dias, Eliane T. Pereira, Eduardo E. Castilla and Iêda M. Orioli

    Article first published online : 21 JUN 2007, DOI: 10.1002/bdra.20380

  14. You have full text access to this OnlineOpen article
    Ongoing sonic hedgehog signaling is required for dorsal midline formation in the developing forebrain

    Developmental Neurobiology

    Volume 68, Issue 1, January 2008, Pages: 83–100, Monica Hayhurst, Bryan B. Gore, Marc Tessier-Lavigne and Susan K. McConnell

    Article first published online : 18 OCT 2007, DOI: 10.1002/dneu.20576

  15. Embryogenesis of holoprosencephaly

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 24, 15 December 2007, Pages: 3079–3087, Kohei Shiota, Shigehito Yamada, Munekazu Komada and Makoto Ishibashi

    Article first published online : 26 OCT 2007, DOI: 10.1002/ajmg.a.32020

  16. Holoprosencephaly and holoprosencephaly-like phenotypes: Review of facial and molecular findings in patients from a craniofacial hospital in Brazil

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

    Volume 154C, Issue 1, 15 February 2010, Pages: 149–157, Antonio Richieri-Costa and Lucilene Arilho Ribeiro

    Article first published online : 26 JAN 2010, DOI: 10.1002/ajmg.c.30247

  17. You have full text access to this OnlineOpen article
    Signaling by SHH rescues facial defects following blockade in the brain

    Developmental Dynamics

    Volume 241, Issue 2, February 2012, Pages: 247–256, H. Jonathan Chong, Nathan M. Young, Diane Hu, Juhee Jeong, Andrew P. McMahon, Benedikt Hallgrimsson and Ralph S. Marcucio

    Article first published online : 24 JAN 2012, DOI: 10.1002/dvdy.23726

  18. The interplay of genetic and environmental factors in craniofacial morphogenesis: holoprosencephaly and the role of cholesterol

    Congenital Anomalies

    Volume 43, Issue 1, March 2003, Pages: 1–21, Robin Edison and Maximilian Muenke

    Article first published online : 1 SEP 2008, DOI: 10.1111/j.1741-4520.2003.tb01022.x

  19. You have free access to this content
    Enhancer-adoption as a mechanism of human developmental disease

    Human Mutation

    Volume 32, Issue 12, December 2011, Pages: 1492–1499, Laura A. Lettice, Sarah Daniels, Elizabeth Sweeney, Shanmugasundaram Venkataraman, Paul S. Devenney, Philippe Gautier, Harris Morrison, Judy Fantes, Robert E. Hill and David R. FitzPatrick

    Article first published online : 20 OCT 2011, DOI: 10.1002/humu.21615

  20. Teratogenesis of holoprosencephaly

    American Journal of Medical Genetics

    Volume 109, Issue 1, 15 April 2002, Pages: 1–15, M. Michael Cohen Jr. and Kohei Shiota

    Article first published online : 18 MAR 2002, DOI: 10.1002/ajmg.10258