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There are 401218 results for: content related to: Severe neonatal spondylometaphyseal dysplasia in two siblings

  1. A rare form of spondylometaphyseal dysplasia-type A4

    American Journal of Medical Genetics

    Volume 78, Issue 1, 16 June 1998, Pages: 61–66, T. Duetting, A. Schulze, J. Troeger and J. Spranger

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19980616)78:1<61::AID-AJMG13>3.0.CO;2-M

  2. COL2A1–related skeletal dysplasias with predominant metaphyseal involvement

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 2, 15 January 2007, Pages: 161–167, Kerstin Walter, Mojca Tansek, Edward S. Tobias, Shiro Ikegawa, Paul Coucke, James Hyland, Geert Mortier, Tsutomu Iwaya, Gen Nishimura, Andrea Superti-Furga and Sheila Unger

    Version of Record online : 12 DEC 2006, DOI: 10.1002/ajmg.a.31516

  3. Sponastrime dysplasia: Five new cases and review of nine previously published cases

    American Journal of Medical Genetics

    Volume 63, Issue 1, 3 May 1996, Pages: 20–27, Leonard O. Langer Jr., Rodney K. Beals, Stephen LaFranchi, Charles I. Scott Jr. and Joseph J. Sockalosky

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19960503)63:1<20::AID-AJMG7>3.0.CO;2-W

  4. The Erlenmeyer flask bone deformity in the skeletal dysplasias

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 6, June 2009, Pages: 1334–1345, Maha A. Faden, Deborah Krakow, Fatih Ezgu, David L. Rimoin and Ralph S. Lachman

    Version of Record online : 14 MAY 2009, DOI: 10.1002/ajmg.a.32253

  5. Spondylometaphyseal dysplasia, east-African Type: A new form of early, severe SMD with rounded vertebrae

    American Journal of Medical Genetics

    Volume 113, Issue 4, 15 December 2002, Pages: 362–366, Alain Verloes, Philippe Lepage, Clarisse Baumann, Pierre Maroteaux and Martine Le Merrer

    Version of Record online : 30 AUG 2002, DOI: 10.1002/ajmg.b.10738

  6. TRPV4-associated skeletal dysplasias

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

    Volume 160C, Issue 3, 15 August 2012, Pages: 190–204, Gen Nishimura, Ekkehart Lausch, Ravi Savarirayan, Masahiro Shiba, Juergen Spranger, Bernhard Zabel, Shiro Ikegawa, Andrea Superti-Furga and Sheila Unger

    Version of Record online : 12 JUL 2012, DOI: 10.1002/ajmg.c.31335

  7. Distinctive new form of spondyloepimetaphyseal dysplasia with severe metaphyseal changes similar to Jansen metaphyseal chondrodysplasia

    Australasian Radiology

    Volume 49, Issue 1, February 2005, Pages: 57–62, A Al Kaissi, MB Ghachem, N Nessib, FB Chehida, A Hammou and K Kozlowski

    Version of Record online : 23 FEB 2005, DOI: 10.1111/j.1440-1673.2005.01395.x

  8. Skeletal Dysplasias, Chondrodysplasias: Disorders of Cartilage Matrix Proteins

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

    William A. Horton, Jacqueline T. Hecht, Pages: 909–937, 2003

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

  9. Distinctive metaphyseal chondrodysplasia with severe distal radius and ulna involvement (upper extremity mesomelia) and normal height

    American Journal of Medical Genetics Part A

    Volume 122A, Issue 2, 1 October 2003, Pages: 159–163, Andrea Camera and Gianni Camera

    Version of Record online : 16 JUN 2003, DOI: 10.1002/ajmg.a.20222

  10. Metaphyseal anadysplasia: Evidence of genetic heterogeneity

    American Journal of Medical Genetics

    Volume 82, Issue 1, 1 January 1999, Pages: 43–48, Gen Nishimura, Shiro Ikegawa, Takeshi Saga, Toshiro Nagai, Misaki Aya and Toshio Kawano

    Version of Record online : 29 JAN 1999, DOI: 10.1002/(SICI)1096-8628(19990101)82:1<43::AID-AJMG9>3.0.CO;2-I

  11. Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations—findings in 10 patients

    American Journal of Medical Genetics Part A

    Volume 137A, Issue 3, 1 September 2005, Pages: 241–248, Outi Mäkitie, Miki Susic, Leanne Ward, Catherine Barclay, Francis H. Glorieux and William G. Cole

    Version of Record online : 8 AUG 2005, DOI: 10.1002/ajmg.a.30855

  12. Hand involvement in Schmid metaphyseal chondrodysplasia

    American Journal of Medical Genetics Part A

    Volume 132A, Issue 2, 15 January 2005, Pages: 191–193, Alison M. Elliott, Fiona M. Field, David L. Rimoin and Ralph S. Lachman

    Version of Record online : 2 DEC 2004, DOI: 10.1002/ajmg.a.30433

  13. Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form: Clinical course and phenotypic variations in four patients

    American Journal of Medical Genetics Part A

    Volume 117A, Issue 2, 1 March 2003, Pages: 147–153, Gen Nishimura, Tomomi Honma, Takashi Shiihara, Noriyo Manabe, Eiji Nakajima, Masanori Adachi, Makoto Mikawa, Yoshimitsu Fukushima and Shiro Ikegawa

    Version of Record online : 18 SEP 2002, DOI: 10.1002/ajmg.a.10927

  14. Nosology and classification of genetic skeletal disorders: 2015 revision

    American Journal of Medical Genetics Part A

    Volume 167, Issue 12, December 2015, Pages: 2869–2892, Luisa Bonafe, Valerie Cormier-Daire, Christine Hall, Ralph Lachman, Geert Mortier, Stefan Mundlos, Gen Nishimura, Luca Sangiorgi, Ravi Savarirayan, David Sillence, Jürgen Spranger, Andrea Superti-Furga, Matthew Warman and Sheila Unger

    Version of Record online : 23 SEP 2015, DOI: 10.1002/ajmg.a.37365

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    In vivo delivery of fluoresceinated dextrans to the murine growth plate: Imaging of three vascular routes by multiphoton microscopy

    The Anatomical Record Part A: Discoveries in Molecular, Cellular, and Evolutionary Biology

    Volume 288A, Issue 1, January 2006, Pages: 91–103, Cornelia E. Farnum, Michelle Lenox, Warren Zipfel, William Horton and Rebecca Williams

    Version of Record online : 8 DEC 2005, DOI: 10.1002/ar.a.20272

  16. A multiplex family with possible metaphyseal Spahr-type dysplasia and exclusion of RMRP and COL10A1 as candidate genes

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 14, 15 July 2008, Pages: 1865–1870, André Mégarbané, Eliane Chouery and Ismat Ghanem

    Version of Record online : 13 JUN 2008, DOI: 10.1002/ajmg.a.32390

  17. Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 6, June 2010, Pages: 1550–1554, Bertrand Isidor, Sabine Baron, Philippe Khau van Kien, Anne-Marie Bertrand, Albert David and Martine Le Merrer

    Version of Record online : 14 MAY 2010, DOI: 10.1002/ajmg.a.33397

  18. Tetralogy of fallot in a patient with developmental coxa vara/spondylometaphyseal dysplasia-corner fracture type (DCV/SMD-CF) expanding the variability

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 4, 1 August 2005, Pages: 395–397, Piergiorgio Franceschini, Domenico Licata, Federico Signorile, Andrea Guala, Giuseppe Ingrosso and Daniele Franceschini

    Version of Record online : 6 JUL 2005, DOI: 10.1002/ajmg.a.30704

  19. A distinctive type of metaphyseal chondrodysplasia with characteristic thickening of the distal ulna and radius: Possible metaphyseal chondrodysplasia-rosenberg

    American Journal of Medical Genetics Part A

    Volume 119A, Issue 1, 15 May 2003, Pages: 50–56, Yung-Seng Lee, Alison M. Elliott, Kah-Yin Loke and Ralph S. Lachman

    Version of Record online : 6 MAR 2003, DOI: 10.1002/ajmg.a.20074

  20. Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies

    American Journal of Medical Genetics Part A

    Volume 133A, Issue 1, 15 February 2005, Pages: 61–67, Andreas Zankl, Luitgard Neumann, Jaako Ignatius, Peter Nikkels, Connie Schrander-Stumpel, Geert Mortier, Heymut Omran, Michael Wright, Katja Hilbert, Luisa Bonafé, Juergen Spranger, Bernhard Zabel and Andrea Superti-Furga

    Version of Record online : 10 JAN 2005, DOI: 10.1002/ajmg.a.30531