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There are 4733206 results for: content related to: Muenke syndrome with osteochondroma

  1. Muenke syndrome (FGFR3-related craniosynostosis): Expansion of the phenotype and review of the literature

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 24, 15 December 2007, Pages: 3204–3215, Emily S. Doherty, Felicitas Lacbawan, Donald W. Hadley, Carmen Brewer, Christopher Zalewski, H. Jeff Kim, Beth Solomon, Kenneth Rosenbaum, Demetrio L. Domingo, Thomas C. Hart, Brian P. Brooks, LaDonna Immken, R. Brian Lowry, Virginia Kimonis, Alan L. Shanske, Fernanda Sarquis Jehee, Maria Rita Passos Bueno, Carol Knightly, Donna McDonald-McGinn, Elaine H. Zackai and Maximilian Muenke

    Version of Record online : 14 NOV 2007, DOI: 10.1002/ajmg.a.32078

  2. Talocalcaneal coalition in Muenke syndrome: Report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism

    American Journal of Medical Genetics Part A

    Volume 161, Issue 3, March 2013, Pages: 453–460, Nneamaka B. Agochukwu, Benjamin D. Solomon, Laurel J. Benson and Maximilian Muenke

    Version of Record online : 1 FEB 2013, DOI: 10.1002/ajmg.a.35233

  3. Holoprosencephaly

    Management of Genetic Syndromes

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

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

  4. 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

    Version of Record online : 26 JAN 2010, DOI: 10.1002/ajmg.c.30236

  5. Skeletal Dysplasias: Craniosynostosis Syndromes and Skeletal Dysplasias Caused by Mutations in Fibroblast Growth Factor Receptor Genes

    Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects, Second Edition

    Clair A. Francomano, Maximilian Muenke, Pages: 961–991, 2003

    Published Online : 30 APR 2003, DOI: 10.1002/0471221929.ch23(iv)

  6. 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

    Version of Record online : 26 JAN 2010, DOI: 10.1002/ajmg.c.30240

  7. 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

    Version of Record online : 1 SEP 2008, DOI: 10.1111/j.1741-4520.2003.tb01022.x

  8. 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

    Version of Record online : 26 JAN 2010, DOI: 10.1002/ajmg.c.30243

  9. 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

    Version of Record online : 7 APR 2009, DOI: 10.1002/ajmg.a.32813

  10. 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

    Version of Record online : 18 MAR 2002, DOI: 10.1002/ajmg.10258

  11. Clinical and Molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal

    Clinical Genetics

    Volume 75, Issue 2, February 2009, Pages: 150–156, MR Almeida, AB Campos-Xavier, A Medeira, I Cordeiro, AB Sousa, M Lima, G Soares, M Rocha, J Saraiva, L Ramos, S Sousa, JP Marcelino, A Correia and HG Santos

    Version of Record online : 13 JAN 2009, DOI: 10.1111/j.1399-0004.2008.01123.x

  12. Mutations in holoprosencephaly

    Human Mutation

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

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

  13. 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

    Version of Record online : 26 JAN 2010, DOI: 10.1002/ajmg.c.30253

  14. Malformations of the craniofacial region: Evolutionary, embryonic, genetic, and clinical perspectives

    American Journal of Medical Genetics

    Volume 115, Issue 4, 30 December 2002, Pages: 245–268, M. Michael Cohen Jr.

    Version of Record online : 23 DEC 2002, DOI: 10.1002/ajmg.10982

  15. The structure and function of genes causing human holoprosencephaly

    Gene Function & Disease

    Volume 1, Issue 1, May 2000, Pages: 7–20, Erich Roessler and Maximilian Muenke

    Version of Record online : 15 MAY 2000, DOI: 10.1002/1438-826X(200005)1:1<7::AID-GNFD7>3.0.CO;2-0

  16. 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

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

  17. 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

    Version of Record online : 26 JAN 2010, DOI: 10.1002/ajmg.c.30250

  18. Craniosynostosis Syndromes

    Management of Genetic Syndromes

    Karen W. Gripp, Elaine H. Zackai, Pages: 227–237, 2010

    Published Online : 17 MAY 2010, DOI: 10.1002/9780470893159.ch17

  19. Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene

    American Journal of Medical Genetics

    Volume 104, Issue 2, 22 November 2001, Pages: 112–119, R. Brian Lowry, Ethylin Wang Jabs, Gail E. Graham, Jennifer Gerritsen and John Fleming

    Version of Record online : 8 OCT 2001, DOI: 10.1002/ajmg.10049

  20. You have full text access to this OnlineOpen article
    The Fibroblast Growth Factor signaling pathway

    Wiley Interdisciplinary Reviews: Developmental Biology

    Volume 4, Issue 3, May/June 2015, Pages: 215–266, David M. Ornitz and Nobuyuki Itoh

    Version of Record online : 13 MAR 2015, DOI: 10.1002/wdev.176