Search Results

There are 7088 results for: content related to: Functional characterization of novel mutations in GNPAT and AGPS , causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3

  1. Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 7, July 2010, Pages: 1812–1817, Graeme Nimmo, Sarah Monsonego, Maria Descartes, Judith Franklin, Steven Steinberg and Nancy Braverman

    Article first published online : 25 JUN 2010, DOI: 10.1002/ajmg.a.33489

  2. Peroxisomal Disorders: A Review on Cerebellar Pathologies

    Brain Pathology

    Volume 25, Issue 6, November 2015, Pages: 663–678, Stephanie De Munter, Simon Verheijden, Luc Régal and Myriam Baes

    Article first published online : 19 AUG 2015, DOI: 10.1111/bpa.12290

  3. Metabolic and molecular basis of peroxisomal disorders: A review

    American Journal of Medical Genetics Part A

    Volume 126A, Issue 4, 1 May 2004, Pages: 355–375, Ronald J.A. Wanders

    Article first published online : 14 APR 2004, DOI: 10.1002/ajmg.a.20661

  4. Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives

    Developmental Disabilities Research Reviews

    Volume 17, Issue 3, June 2013, Pages: 187–196, Nancy E. Braverman, Maria Daniela D'Agostino and Gillian E. MacLean

    Article first published online : 24 JUN 2013, DOI: 10.1002/ddrr.1113

  5. Rhizomelic chondrodysplasia punctata type 1 and fulminant neonatal respiratory failure, a case report and discussion of pathophysiology

    American Journal of Medical Genetics Part A

    Volume 155, Issue 12, December 2011, Pages: 3160–3163, Gretchen Oswald, Cathleen Lawson, Gerald Raymond, W. Christopher Golden and Nancy Braverman

    Article first published online : 3 NOV 2011, DOI: 10.1002/ajmg.a.34331

  6. Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype

    Human Mutation

    Volume 20, Issue 4, October 2002, Pages: 284–297, Nancy Braverman, Li Chen, Paul Lin, Cassandra Obie, Gary Steel, Pamela Douglas, Pranesh K. Chakraborty, Joe T.R. Clarke, Avihu Boneh, Ann Moser, Hugo Moser and David Valle

    Article first published online : 24 SEP 2002, DOI: 10.1002/humu.10124

  7. Cervical stenosis secondary to rhizomelic chondrodysplasia punctata

    American Journal of Medical Genetics

    Volume 99, Issue 1, 15 February 2001, Pages: 63–66, A. Jay Khanna, Nancy E. Braverman, David Valle and Paul D. Sponseller

    Article first published online : 6 FEB 2001, DOI: 10.1002/1096-8628(20010215)99:1<63::AID-AJMG1117>3.0.CO;2-9

  8. You have free access to this content
    Plasmalogen synthesis is regulated via alkyl-dihydroxyacetonephosphate-synthase by amyloid precursor protein processing and is affected in Alzheimer’s disease

    Journal of Neurochemistry

    Volume 116, Issue 5, March 2011, Pages: 916–925, Marcus O. W. Grimm, Johanna Kuchenbecker, Tatjana L. Rothhaar, Sven Grösgen, Benjamin Hundsdörfer, Verena K. Burg, Petra Friess, Ulrike Müller, Heike S. Grimm, Mathias Riemenschneider and Tobias Hartmann

    Article first published online : 12 JAN 2011, DOI: 10.1111/j.1471-4159.2010.07070.x

  9. Natural history of rhizomelic chondrodysplasia punctata

    American Journal of Medical Genetics Part A

    Volume 118A, Issue 4, 1 May 2003, Pages: 332–342, Amy L. White, Peggy Modaff, Francesca Holland-Morris and Richard M. Pauli

    Article first published online : 27 JAN 2003, DOI: 10.1002/ajmg.a.20009

  10. You have free access to this content
    Salt stress upregulates periplasmic arabinogalactan proteins: using salt stress to analyse AGP function

    New Phytologist

    Volume 169, Issue 3, January 2006, Pages: 479–492, Derek T. A. Lamport, Marcia J. Kieliszewski and Allan M. Showalter

    Article first published online : 24 NOV 2005, DOI: 10.1111/j.1469-8137.2005.01591.x

  11. You have free access to this content
    Carrot arabinogalactan proteins are interlinked with pectins

    Physiologia Plantarum

    Volume 128, Issue 1, September 2006, Pages: 18–28, Peter Immerzeel, Mieke M. Eppink, Sacco C. De Vries, Henk A. Schols and Alphons G. J. Voragen

    Article first published online : 7 JUL 2006, DOI: 10.1111/j.1399-3054.2006.00712.x

  12. Purification, structural data and biological properties of polysaccharide from Prunus amygdalus gum

    International Journal of Food Science & Technology

    Volume 50, Issue 3, March 2015, Pages: 578–584, Fatma Bouaziz, Mohamed Koubaa, Claire Boisset Helbert, Fatma Kallel, Dorra Driss, Imen Kacem, Raoudha Ghorbel and Semia Ellouz Chaabouni

    Article first published online : 27 OCT 2014, DOI: 10.1111/ijfs.12687

  13. You have free access to this content
    Congenital heart defects common in rhizomelic chondrodysplasia punctata

    American Journal of Medical Genetics Part A

    Volume 170, Issue 1, January 2016, Pages: 270–272, Angela L. Duker, Grant Eldridge, Nancy E. Braverman and Michael B. Bober

    Article first published online : 26 SEP 2015, DOI: 10.1002/ajmg.a.37404

  14. Different arabinogalactan proteins are present in carrot (Daucus carota) cell culture medium and in seeds

    Physiologia Plantarum

    Volume 122, Issue 2, October 2004, Pages: 181–189, Peter Immerzeel, Henk A. Schols, Alphons G. J. Voragen and Sacco C. De Vries

    Article first published online : 31 AUG 2004, DOI: 10.1111/j.1399-3054.2004.00395.x

  15. Prenatal diagnosis of rhizomelic chondrodysplasia punctata due to isolated alkyldihydroacetonephosphate acyltransferase synthase deficiency

    Prenatal Diagnosis

    Volume 19, Issue 4, April 1999, Pages: 383–385, Karen M. Brookhyser, Mark H. Lipson, Ann B. Moser, Hugo W. Moser, Ralph S. Lachman and David L. Rimoin

    Article first published online : 26 APR 1999, DOI: 10.1002/(SICI)1097-0223(199904)19:4<383::AID-PD544>3.0.CO;2-S

  16. You have free access to this content
    Knockdown of MYB305 disrupts nectary starch metabolism and floral nectar production

    The Plant Journal

    Volume 70, Issue 3, May 2012, Pages: 377–388, Guangyu Liu and Robert W. Thornburg

    Article first published online : 23 JAN 2012, DOI: 10.1111/j.1365-313X.2011.04875.x

  17. Lethal form of chondrodysplasia punctata with normal plasmalogen and cholesterol biosynthesis

    American Journal of Medical Genetics

    Volume 98, Issue 3, 22 January 2001, Pages: 250–255, S. Kumada, M. Hayashi, J. Kenmochi, S. Kurosawa, N. Shimozawa, Lisa E. Kratz, Richard I. Kelley, K. Taki and M. Okaniwa

    Article first published online : 11 JAN 2001, DOI: 10.1002/1096-8628(20010122)98:3<250::AID-AJMG1087>3.0.CO;2-Y

  18. You have free access to this content
    A role for arabinogalactan proteins in gibberellin-induced α-amylase production in barley aleurone cells

    The Plant Journal

    Volume 29, Issue 6, March 2002, Pages: 733–741, Yoshihito Suzuki, Mamiko Kitagawa, J. Paul Knox and Isomaro Yamaguchi

    Article first published online : 26 MAR 2002, DOI: 10.1046/j.1365-313X.2002.01259.x

  19. A relationship between seed development, Arabinogalactan-proteins (AGPs) and the AGP mediated promotion of somatic embryogenesis

    Physiologia Plantarum

    Volume 114, Issue 4, April 2002, Pages: 637–644, Arjon J. Van Hengel, Ab Van Kammen and Sacco C. De Vries

    Article first published online : 26 APR 2002, DOI: 10.1034/j.1399-3054.2002.1140418.x

  20. Arabinogalactan proteins and the extracellular matrix surface network during peach palm somatic embryogenesis

    Physiologia Plantarum

    Volume 146, Issue 3, November 2012, Pages: 336–349, Douglas A. Steinmacher, Katja Saare-Surminski and Reinhard Lieberei

    Article first published online : 19 JUN 2012, DOI: 10.1111/j.1399-3054.2012.01642.x