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There are 8987 results for: content related to: Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations

  1. You have free access to this content
    Abnormal vertebral segmentation and the notch signaling pathway in man

    Developmental Dynamics

    Volume 236, Issue 6, June 2007, Pages: 1456–1474, Peter D. Turnpenny, Ben Alman, Alberto S. Cornier, Philip F. Giampietro, Amaka Offiah, Olivier Tassy, Olivier Pourquié, Kenro Kusumi and Sally Dunwoodie

    Version of Record online : 11 MAY 2007, DOI: 10.1002/dvdy.21182

  2. Progress in the Understanding of the Genetic Etiology of Vertebral Segmentation Disorders in Humans

    Annals of the New York Academy of Sciences

    Volume 1151, Issue 1, January 2009, Pages: 38–67, Philip F. Giampietro, Sally L. Dunwoodie, Kenro Kusumi, Olivier Pourquié, Olivier Tassy, Amaka C. Offiah, Alberto S. Cornier, Benjamin A. Alman, Robert D. Blank, Cathleen L. Raggio, Ingrid Glurich and Peter D. Turnpenny

    Version of Record online : 23 DEC 2008, DOI: 10.1111/j.1749-6632.2008.03452.x

  3. Disruption of the somitic molecular clock causes abnormal vertebral segmentation

    Birth Defects Research Part C: Embryo Today: Reviews

    Volume 81, Issue 2, June 2007, Pages: 93–110, Duncan B. Sparrow, Gavin Chapman, Peter D. Turnpenny and Sally L. Dunwoodie

    Version of Record online : 28 JUN 2007, DOI: 10.1002/bdrc.20093

  4. A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village

    Clinical Genetics

    Volume 64, Issue 1, July 2003, Pages: 28–35, L Bonafé, C Giunta, M Gassner, B Steinmann and A Superti-Furga

    Version of Record online : 6 JUN 2003, DOI: 10.1034/j.1399-0004.2003.00085.x

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    Dll3 and Notch1 genetic interactions model axial segmental and craniofacial malformations of human birth defects

    Developmental Dynamics

    Volume 236, Issue 10, October 2007, Pages: 2943–2951, Kathleen M. Loomes, Stacey A. Stevens, Megan L. O'Brien, Dorian M. Gonzalez, Matthew J. Ryan, Michelle Segalov, Nicholas J. Dormans, Mizuho S. Mimoto, Joshua D. Gibson, William Sewell, Alyssa A. Schaffer, Hyun-Duck Nah, Eric F. Rappaport, Stephen C. Pratt, Sally L. Dunwoodie and Kenro Kusumi

    Version of Record online : 11 SEP 2007, DOI: 10.1002/dvdy.21296

  6. Segmentation anomalies of the vertebras and ribs: One expression of the primary developmental field

    American Journal of Medical Genetics Part A

    Volume 128A, Issue 2, 15 July 2004, Pages: 127–131, M.L. Martínez-Frías

    Version of Record online : 5 MAR 2004, DOI: 10.1002/ajmg.a.30016

  7. The vertebrate segmentation clock and its role in skeletal birth defects

    Birth Defects Research Part C: Embryo Today: Reviews

    Volume 81, Issue 2, June 2007, Pages: 121–133, Emily T. Shifley and Susan E. Cole

    Version of Record online : 28 JUN 2007, DOI: 10.1002/bdrc.20090

  8. DLL3 as a candidate gene for vertebral malformations

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 22, 15 November 2006, Pages: 2447–2453, Philip F. Giampietro, Cathleen L. Raggio, Cory Reynolds, Nader Ghebranious, James K. Burmester, Ingrid Glurich, Kristen Rasmussen, Elizabeth McPherson, Richard M. Pauli, Sanjay K. Shukla, Sajid Merchant, F. Stig Jacobsen, Thomas Faciszewski and Robert D. Blank

    Version of Record online : 13 OCT 2006, DOI: 10.1002/ajmg.a.31509

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    Dll3 is expressed in developing hair cells in the mammalian cochlea

    Developmental Dynamics

    Volume 236, Issue 10, October 2007, Pages: 2875–2883, Byron H. Hartman, Toshinori Hayashi, Branden R. Nelson, Olivia Bermingham-McDonogh and Thomas A. Reh

    Version of Record online : 6 SEP 2007, DOI: 10.1002/dvdy.21307

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    Mutations in the Notch Pathway Alter the Patterning of Multifidus

    The Anatomical Record

    Volume 295, Issue 1, January 2012, Pages: 32–39, Rebecca E. Fisher, Heather F. Smith, Kenro Kusumi, Erica E. Tassone, Alan Rawls and Jeanne Wilson-Rawls

    Version of Record online : 18 NOV 2011, DOI: 10.1002/ar.21488

  11. Syndromes and Diseases Associated with the Notch Signalling Pathway

    Standard Article

    eLS

    Peter D Turnpenny

    Published Online : 15 AUG 2014, DOI: 10.1002/9780470015902.a0024870

  12. Scoliosis and segmentation defects of the vertebrae

    Wiley Interdisciplinary Reviews: Developmental Biology

    Volume 1, Issue 3, May/June 2012, Pages: 401–423, Walter L. Eckalbar, Rebecca E. Fisher, Alan Rawls and Kenro Kusumi

    Version of Record online : 5 MAR 2012, DOI: 10.1002/wdev.34

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    Acheate-scute like 1 (Ascl1) is required for normal delta-like (Dll) gene expression and notch signaling during retinal development

    Developmental Dynamics

    Volume 238, Issue 9, September 2009, Pages: 2163–2178, Branden R. Nelson, Byron H. Hartman, Catherine A. Ray, Toshinori Hayashi, Olivia Bermingham-McDonogh and Thomas A. Reh

    Version of Record online : 2 FEB 2009, DOI: 10.1002/dvdy.21848

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    Relationship between delta-like and proneural bHLH genes during chick retinal development

    Developmental Dynamics

    Volume 237, Issue 6, June 2008, Pages: 1565–1580, Branden R. Nelson and Thomas A. Reh

    Version of Record online : 24 APR 2008, DOI: 10.1002/dvdy.21550

  15. Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 6, June 2010, Pages: 1378–1382, Zoran S. Gucev, Velibor Tasic, Nada Pop-Jordanova, Duncan B. Sparrow, Sally L. Dunwoodie, Sian Ellard, Elizabeth Young and Peter D. Turnpenny

    Version of Record online : 11 MAY 2010, DOI: 10.1002/ajmg.a.33471

  16. Pilot assessment of a radiologic classification system for segmentation defects of the vertebrae

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 6, June 2010, Pages: 1357–1371, Amaka Offiah, Benjamin Alman, Alberto S. Cornier, Philip F. Giampietro, Olivier Tassy, Angie Wade and Peter D. Turnpenny

    Version of Record online : 28 APR 2010, DOI: 10.1002/ajmg.a.33361

  17. Genetic analysis of molecular oscillators in mammalian somitogenesis: Clues for studies of human vertebral disorders

    Birth Defects Research Part C: Embryo Today: Reviews

    Volume 81, Issue 2, June 2007, Pages: 111–120, William Sewell and Kenro Kusumi

    Version of Record online : 28 JUN 2007, DOI: 10.1002/bdrc.20091

  18. Genetic and clinical profiles of spondylocostal dysostosis patients in Taiwan

    American Journal of Medical Genetics Part A

    Volume 155, Issue 12, December 2011, Pages: 3132–3135, Chung-Hsing Wang, Wei-De Lin, Da-Tian Bau, I-Ching Chou and Fuu-Jen Tsai

    Version of Record online : 3 NOV 2011, DOI: 10.1002/ajmg.a.34301

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    Tumorigenic Potential of miR-18A* in Glioma Initiating Cells Requires NOTCH-1 Signaling

    STEM CELLS

    Volume 31, Issue 7, July 2013, Pages: 1252–1265, Laurent Turchi, David N. Debruyne, Fabien Almairac, Virginie Virolle, Mohamed Fareh, Yasmine Neirijnck, Fanny Burel-Vandenbos, Philippe Paquis, Marie-Pierre Junier, Ellen Van Obberghen-Schilling, Hervé Chneiweiss and Thierry Virolle

    Version of Record online : 5 JUL 2013, DOI: 10.1002/stem.1373

  20. When body segmentation goes wrong

    Clinical Genetics

    Volume 60, Issue 6, December 2001, Pages: 409–416, O Pourquié and K Kusumi

    Version of Record online : 11 JAN 2002, DOI: 10.1034/j.1399-0004.2001.600602.x