Search Results

There are 2898594 results for: content related to: Chapter 97. Enzyme Defects and the Skeleton

  1. Hypophosphatasia: dental aspects and mode of inheritance

    Journal of Clinical Periodontology

    Volume 20, Issue 9, October 1993, Pages: 615–622, I. L. C. Chapple

    Article first published online : 13 DEC 2005, DOI: 10.1111/j.1600-051X.1993.tb00705.x

  2. Infantile hypophosphatasia: Autosomal recessive transmission to two related sibships

    American Journal of Medical Genetics

    Volume 36, Issue 1, May 1990, Pages: 15–22, Cynthia A. Moore, Jewell C. Ward, Marian L. Rivas, H. Lynn Magill and Michael P. Whyte

    Article first published online : 5 JUN 2005, DOI: 10.1002/ajmg.1320360105

  3. Hypophosphatasia: The mutations in the tissue-nonspecific alkaline phosphatase gene

    Human Mutation

    Volume 15, Issue 4, April 2000, Pages: 309–315, Etienne Mornet

    Article first published online : 22 MAR 2000, DOI: 10.1002/(SICI)1098-1004(200004)15:4<309::AID-HUMU2>3.0.CO;2-C

  4. Severe perinatal hypophosphatasia due to homozygous deletion of T at nucleotide 1559 in the tissue nonspecific alkaline phosphatase gene

    Prenatal Diagnosis

    Volume 23, Issue 9, September 2003, Pages: 743–746, Hideaki Sawai, Nozomi Kanazawa, Yuki Tsukahara, Kazunori Koike, Hideo Udagawa, Koji Koyama and Etienne Mornet

    Article first published online : 2 SEP 2003, DOI: 10.1002/pd.696

  5. Specific osseous spurs in a lethal form of hypophosphatasia correlated with 3D prenatal ultrasonographic images

    Prenatal Diagnosis

    Volume 27, Issue 3, March 2007, Pages: 222–227, M. Sinico, J. M. Levaillant, A. Vergnaud, J. R. Blondeau, F. Encha-Razavi, E. Mornet, M. Le Merrer and M. Gerard-Blanluet

    Article first published online : 22 JAN 2007, DOI: 10.1002/pd.1648

  6. Infantile hypophosphatasia: Successful prenatal assessment by testing for tissue-non-specific alkaline phosphatase isoenzyme gene mutations

    Prenatal Diagnosis

    Volume 15, Issue 11, November 1995, Pages: 1001–1006, Paula S. Henthorn and Dr Michael P. Whyte

    Article first published online : 14 DEC 2005, DOI: 10.1002/pd.1970151104

  7. Heritable Forms of Rickets and Osteomalacia

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

    Peter M. Royce, Beat Steinmann, Pages: 765–787, 2003

    Published Online : 30 APR 2003, DOI: 10.1002/0471221929.ch18

  8. Perinatal hypophosphatasia: diagnosis and detection of heterozygote carriers within the family

    Clinical Genetics

    Volume 56, Issue 4, October 1999, Pages: 313–317, B Gehring, E Mornet, H Plath, M Hansmann, P Bartmann and Re Brenner

    Article first published online : 24 DEC 2001, DOI: 10.1034/j.1399-0004.1999.560409.x

  9. You have free access to this content
    Aberrant interchain disulfide bridge of tissue-nonspecific alkaline phosphatase with an Arg433[RIGHTWARDS ARROW]Cys substitution associated with severe hypophosphatasia

    FEBS Journal

    Volume 273, Issue 24, December 2006, Pages: 5612–5624, Makiko Nasu, Masahiro Ito, Yoko Ishida, Natsuko Numa, Keiichi Komaru, Shuichi Nomura and Kimimitsu Oda

    Article first published online : 15 NOV 2006, DOI: 10.1111/j.1742-4658.2006.05550.x

  10. Histologic and ultrastructural studies on the mineralization process in hypophosphatasia

    American Journal of Medical Genetics

    Volume 22, Issue 4, December 1985, Pages: 743–758, Dr. Asher Ornoy, Gerald E. Adomian, David L. Rimoin, John M. Opitz and James F. Reynolds

    Article first published online : 3 JUN 2005, DOI: 10.1002/ajmg.1320220410

  11. Hypophosphatasia: a family study involving a case diagnosed from gingival crevicular fluid

    Journal of Oral Pathology & Medicine

    Volume 21, Issue 9, October 1992, Pages: 426–431, I. L. C. Chapple, G. H. G. Thorpe, J. M. Smith, M. S. Saxby, H. D. Glenwright, A. Green, G. M. Perry, M. Grundy, L. Shaw and J. B. Matthews

    Article first published online : 28 APR 2006, DOI: 10.1111/j.1600-0714.1992.tb01033.x

  12. Positive maternal serum triple test screening in severe early onset hypophosphatasia

    Prenatal Diagnosis

    Volume 24, Issue 7, July 2004, Pages: 494–497, Ingrid Witters, Philippe Moerman, Etienne Mornet and Jean-Pierre Fryns

    Article first published online : 3 AUG 2004, DOI: 10.1002/pd.859

  13. Perinatal hypophosphatasia: Radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648+1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene

    American Journal of Medical Genetics

    Volume 103, Issue 3, 15 October 2001, Pages: 235–240, Consolato Sergi, Etienne Mornet, Jochen Troeger and Theda Voigtlaender

    Article first published online : 30 AUG 2001, DOI: 10.1002/ajmg.1541

  14. Genetic analysis of hypophosphatasia

    Pediatrics International

    Volume 39, Issue 4, August 1997, Pages: 528–532, SEIJI SATO and NOBUTAKE MATSUO

    Article first published online : 19 JAN 2011, DOI: 10.1111/j.1442-200X.1997.tb03632.x

  15. You have free access to this content
    A Molecular-Based Estimation of the Prevalence of Hypophosphatasia in the European Population

    Annals of Human Genetics

    Volume 75, Issue 3, May 2011, Pages: 439–445, Etienne Mornet, Alice Yvard, Agnes Taillandier, Delphine Fauvert and Brigitte Simon-Bouy

    Article first published online : 24 MAR 2011, DOI: 10.1111/j.1469-1809.2011.00642.x

  16. Mild autosomal dominant hypophosphatasia: In utero presentation in two families

    American Journal of Medical Genetics

    Volume 86, Issue 5, 29 October 1999, Pages: 410–415, Cynthia A. Moore, Cynthia J.R. Curry, Paula S. Henthorn, John A. Smith, J. Charles Smith, Patricia O'Lague, Stephen P. Coburn, David D. Weaver and Michael P. Whyte

    Article first published online : 1 OCT 1999, DOI: 10.1002/(SICI)1096-8628(19991029)86:5<410::AID-AJMG3>3.0.CO;2-0

  17. Phenotypically dissimilar hypophosphatasia in two sibships

    American Journal of Medical Genetics

    Volume 42, Issue 1, 1 January 1992, Pages: 117–121, J. D. Macfarlane, H. M. Kroon and J. J. van der Harten

    Article first published online : 7 JUN 2005, DOI: 10.1002/ajmg.1320420124

  18. TWO SIBLINGS WITH HYPOPHOSPHATASIA

    Pathology International

    Volume 30, Issue 4, July 1980, Pages: 621–629, Isao Nakanishi, Shinji Masuda, Shogo Katsuda, Junko Kihara, Masaki Ihara and Chikara Yamazaki

    Article first published online : 11 DEC 2008, DOI: 10.1111/j.1440-1827.1980.tb01357.x

  19. Hypophosphatasia affecting the permanent dentition

    Journal of Oral Pathology & Medicine

    Volume 25, Issue 6, July 1996, Pages: 343–347, Anders Olsson, Lars Matsson, Hans K. Blomquist, Åke Larsson and Bengt Sjödin

    Article first published online : 28 APR 2006, DOI: 10.1111/j.1600-0714.1996.tb00274.x

  20. Fetal Skeletal Anomalies

    Clinical Obstetrics: The Fetus & Mother, Third Edition

    Luís F. Gonçalves, Patricia L. Devers, Jimmy Espinoza, Roberto Romero, Pages: 401–472, 2008

    Published Online : 14 JAN 2008, DOI: 10.1002/9780470753293.ch26