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There are 4852 results for: content related to: Abnormal sterol metabolism in holoprosencephaly

  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. 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

  3. 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

  4. SHH mutation is associated with solitary median maxillary central incisor: A study of 13 patients and review of the literature

    American Journal of Medical Genetics

    Volume 102, Issue 1, 22 July 2001, Pages: 1–10, Luisa Nanni, Jeffrey E. Ming, Yangzhu Du, Roger K. Hall, Michael Aldred, Agnes Bankier and Maximilian Muenke

    Article first published online : 5 JUL 2001, DOI: 10.1002/1096-8628(20010722)102:1<1::AID-AJMG1336>3.0.CO;2-U

  5. 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

  6. 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

  7. 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

  8. Non-genetic risk factors for holoprosencephaly

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

    Volume 154C, Issue 1, 15 February 2010, Pages: 73–85, Candice Y. Johnson and Sonja A. Rasmussen

    Article first published online : 26 JAN 2010, DOI: 10.1002/ajmg.c.30242

  9. 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

  10. You have free access to this content
    Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humans

    Wiley Interdisciplinary Reviews: Developmental Biology

    Volume 4, Issue 1, January/February 2015, Pages: 17–32, Anna Petryk, Daniel Graf and Ralph Marcucio

    Article first published online : 22 OCT 2014, DOI: 10.1002/wdev.161

  11. Risk factors for non-syndromic holoprosencephaly in the National Birth Defects Prevention Study

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

    Volume 154C, Issue 1, 15 February 2010, Pages: 62–72, Eric A. Miller, Sonja A. Rasmussen, Anna Maria Siega-Riz, Jaime L. Frías and Margaret A. Honein

    Article first published online : 26 JAN 2010, DOI: 10.1002/ajmg.c.30244

  12. 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

  13. Mosaic trisomy 9 and lobar holoprosencephaly

    American Journal of Medical Genetics

    Volume 111, Issue 3, 15 August 2002, Pages: 295–300, Marion Gérard-Blanluet, Claude Danan, Martine Sinico, Françoise Lelong, Elsa Borghi, Gilles Dassieu, Jean-Claude Janaud, Sylvie Odent and Férechté Encha-Razavi

    Article first published online : 7 JUN 2002, DOI: 10.1002/ajmg.10481

  14. 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

  15. 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

  16. A syndrome of holoprosencephaly, recurrent infections, and monocytosis

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 24, 15 December 2006, Pages: 2742–2748, Paul T. Jubinsky, Alan L. Shanske, Fiona J. Pixley, Cristina Montagna and Mary K. Short

    Article first published online : 13 NOV 2006, DOI: 10.1002/ajmg.a.31542

  17. Mutations in holoprosencephaly

    Human Mutation

    Volume 16, Issue 2, August 2000, Pages: 99–108, Deeann Wallis and Maximilian Muenke

    Article first published online : 28 JUL 2000, DOI: 10.1002/1098-1004(200008)16:2<99::AID-HUMU2>3.0.CO;2-0

  18. Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature

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

    Volume 154C, Issue 1, 15 February 2010, Pages: 158–169, Emily F. Kauvar, Benjamin D. Solomon, Cynthia J.R. Curry, Anthonie J. van Essen, Nicole Janssen, Amalia Dutra, Erich Roessler and Maximilian Muenke

    Article first published online : 26 JAN 2010, DOI: 10.1002/ajmg.c.30235

  19. Holoprosencephaly and craniosynostosis: A report of two siblings and review of the literature

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

    Volume 154C, Issue 1, 15 February 2010, Pages: 176–182, Manu S. Raam, Benjamin D. Solomon, Stavit A. Shalev and Maximilian Muenke

    Article first published online : 26 JAN 2010, DOI: 10.1002/ajmg.c.30234

  20. Risk factors for nonsyndromic holoprosencephaly: A Manitoba case–control study

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 4, April 2012, Pages: 751–758, Simone S. Vaz, Bernard Chodirker, Chitra Prasad, Jamie A. Seabrook, Albert E. Chudley and Asuri N. Prasad

    Article first published online : 14 MAR 2012, DOI: 10.1002/ajmg.a.35240