Search Results - P. Suzanne Hart

  • Showing 1 - 19 results of 19
Refine Results
  1. 1
    Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta

    Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta by P. Suzanne Hart

    Published 2004
    Get full text Get full text
    Carta
    Save to List
    Saved in:
  2. 2
    Genetic studies of craniofacial anomalies: clinical implications and applications

    Genetic studies of craniofacial anomalies: clinical implications and applications by TC Hart, P. Suzanne Hart

    Published 2009
    Get full text
    Revisão
    Save to List
    Saved in:
  3. 3
    Disorders of Human Dentin

    Disorders of Human Dentin by P. Suzanne Hart, Thomas C. Hart

    Published 2007
    Get full text
    Artigo
    Save to List
    Saved in:
  4. 4
    Overlapping <i>DSPP</i> Mutations Cause Dentin Dysplasia and Dentinogenesis Imperfecta

    Overlapping <i>DSPP</i> Mutations Cause Dentin Dysplasia and Dentinogenesis Imperfecta by Dianalee McKnight, James P. Simmer, P. Suzanne Hart, Thomas C. Hart, Larry W. Fisher

    Published 2008
    Get full text
    Artigo
    Save to List
    Saved in:
  5. 5
    Exclusion of known gene for enamel development in two Brazilian families with amelogenesis imperfecta

    Exclusion of known gene for enamel development in two Brazilian families with amelogenesis imperfecta by Maria Cristina Leme Godoy dos Santos, P. Suzanne Hart, Mukundhan Ramaswami, Cláudia Misue Kanno, Thomas C. Hart, Sergio RP Line

    Published 2007
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  6. 6
    A comprehensive analysis of normal variation and disease-causing mutations in the human<i>DSPP</i>gene

    A comprehensive analysis of normal variation and disease-causing mutations in the human<i>DSPP</i>gene by Dianalee McKnight, P. Suzanne Hart, Thomas C. Hart, James K. Hartsfield, Anne Wilson, J. Timothy Wright, Larry W. Fisher

    Published 2008
    Get full text
    Artigo
    Save to List
    Saved in:
  7. 7
    MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta

    MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta by JW Kim, James P. Simmer, Tom C. Hart, P. Suzanne Hart, Mukundhan Ramaswami, John D. Bartlett, Jan C.‐C. Hu

    Published 2005
    Get full text Get full text
    Carta
    Save to List
    Saved in:
  8. 8
    Amelogenesis Imperfecta: Genotype-Phenotype Studies in 71 Families

    Amelogenesis Imperfecta: Genotype-Phenotype Studies in 71 Families by J. Timothy Wright, Melody Torain, Kimberly Long, W.K. Seow, P J Crawford, Michael J. Aldred, P. Suzanne Hart, Tom C. Hart

    Published 2011
    Get full text
    Artigo
    Save to List
    Saved in:
  9. 9
    <i>MMP20</i> Active-site Mutation in Hypomaturation Amelogenesis Imperfecta

    <i>MMP20</i> Active-site Mutation in Hypomaturation Amelogenesis Imperfecta by Didem Özdemır, P. Suzanne Hart, Ok Hee Ryu, S.J. Choi, Meltem Özdemir Karataş, Erhan Fıratlı, N. P. Piesco, Thomas C. Hart

    Published 2005
    Get full text
    Artigo
    Save to List
    Saved in:
  10. 10
    Phenotypic Variation in<i>FAM83H-</i>associated Amelogenesis Imperfecta

    Phenotypic Variation in<i>FAM83H-</i>associated Amelogenesis Imperfecta by J. Timothy Wright, Sylvia A. Frazier‐Bowers, Darrin Simmons, K. Alexander, P J Crawford, Sangwoo T. Han, P. Suzanne Hart, Thomas C. Hart

    Published 2009
    Get full text
    Artigo
    Save to List
    Saved in:
  11. 11
    Identification of 2 novel <i>ANTXR2</i> mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system

    Identification of 2 novel <i>ANTXR2</i> mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system by Rafael Denadai, CassioEduardo Raposo-Amaral, Débora Romeo Bertola, Chong Ae Kim, Nivaldo Alonso, Thomas C. Hart, Sangwoo T. Han, Rafael Fantelli Stelini, Celso L. Buzzo, Cesar Augusto Raposo‐Amaral, P. Suzanne Hart

    Published 2012
    Get full text
    Artigo
    Save to List
    Saved in:
  12. 12
    Human and Mouse Enamel Phenotypes Resulting from Mutation or Altered Expression of &lt;i&gt;AMEL, ENAM&lt;/i&gt;, &lt;i&gt;MMP20&lt;/i&gt; and &lt;i&gt;KLK4&lt;/i&gt;

    Human and Mouse Enamel Phenotypes Resulting from Mutation or Altered Expression of &lt;i&gt;AMEL, ENAM&lt;/i&gt;, &lt;i&gt;MMP20&lt;/i&gt; and &lt;i&gt;KLK4&lt;/i&gt; by J. Timothy Wright, Thomas C. Hart, P. Suzanne Hart, Darrin Simmons, Cynthia Suggs, Bill Daley, Jim Simmer, Jan C.‐C. Hu, John D. Bartlett, Yong Li, Zhi-An Yuan, W.K. Seow, Carolyn W. Gibson

    Published 2008
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  13. 13
    Identification of cathepsin C mutations in ethnically diverse Papillon-Lefevre syndrome patients

    Identification of cathepsin C mutations in ethnically diverse Papillon-Lefevre syndrome patients by P. Suzanne Hart, Yingze Zhang, Erhan Fıratlı, Cem Uygur, Mehrdad Lotfazar, Michael Michalec, J.J. Marks, Xiaoxiao Lu, B J Coates, W.K. Seow, Ruth Marshall, David E. Williams, Jennifer Reed, J. Tim Wright, Thomas C. Hart

    Published 2000
    Get full text
    Artigo
    Save to List
    Saved in:
  14. 14
    The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/P

    The PDGF-C regulatory region SNP rs28999109 decreases promoter transcriptional activity and is associated with CL/P by Sun Jin Choi, Mary L. Marazita, P. Suzanne Hart, Paweł Sulima, L. Leigh Field, Toby McHenry, Manika Govil, Margaret E. Cooper, Ariadne Letra, Renato Menezes, Sowmya Narayanan, M. Adela Mansilla, José Mauro Granjeiro, Alexandre R. Vieira, Andrew C. Lidral, Jeffrey C. Murray, Thomas C. Hart

    Published 2008
    Get full text
    Artigo
    Save to List
    Saved in:
  15. 15
    Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure

    Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure by Martina Živná, Helena Hůlková, Marie Matignon, Kateřina Hodaňová, Petr Vyleťal, Marie Hubálek Kalbáčová, Veronika Barešová, Jakub Sikora, Hana Blažková, J Živný, Robert Ivánek, Viktor Stránecký, Jana Sovová, Kathleen Claes, Evelyne Lerut, Jean‐Pierre Fryns, P. Suzanne Hart, Thomas C. Hart, Jeremy N. Adams, Audrey Pawtowski, Maud Clemessy, Jean-Marie Gasc, Marie‐Claire Gubler, Corinne Antignac, M. Elleder, Katja Kapp, Philippe Grimbert, Anthony J. Bleyer, Stanislav Kmoch

    Published 2009
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  16. 16
    Variable Clinical Presentation of an MUC1 Mutation Causing Medullary Cystic Kidney Disease Type 1

    Variable Clinical Presentation of an MUC1 Mutation Causing Medullary Cystic Kidney Disease Type 1 by Anthony J. Bleyer, Stanislav Kmoch, Corinne Antignac, Vicki Robins, Kendrah Kidd, John R. Kelsoe, Gerald A. Hladik, Philip J. Klemmer, Stephen J. Knohl, Steven J. Scheinman, Nam S. Vo, Ann Santi, Alese Harris, Omar Canaday, Nelson Weller, Peter J. Hulick, Kristen J. Vogel, Frederic F. Rahbari-Oskoui, Jennifer Tuazon, Constantinos Deltas, Douglas Somers, André Mégarbané, Paul L. Kimmel, C. John Sperati, Avi Orr‐Urtreger, Shay Ben‐Shachar, David A. Waugh, Stella McGinn, Anthony J. Bleyer, Kateřina Hodaňová, Petr Vyleťal, Martina Živná, Thomas C. Hart, P. Suzanne Hart

    Published 2014
    Get full text
    Artigo
    Save to List
    Saved in:
  17. 17
    Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p

    Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p by Meral Gunay‐Aygun, Yifat Zivony-Elboum, Fatma Gümrük, Dan Geiger, Mualla Çetin, Morad Khayat, Robert Kleta, Nehama Cohen Kfir, Yair Anikster, Judith Chezar, Mauricio Arcos‐Burgos, Adel Shalata, Horia Stanescu, J. Manaster, Mutlu Arat, Hailey Edwards, Andrew A. Freiberg, P. Suzanne Hart, Lauren C. Riney, Katherine A. Patzel, Pranoot Tanpaiboon, Tom Markello, Marjan Huizing, Irina Marić, McDonald K. Horne, Beate E. Kehrel, Kerstin Jurk, Nancy F. Hansen, Praveen F. Cherukuri, MaryPat Jones, Pedro Cruz, Jim Mullikin, Alan T. Nurden, James G. White, William A. Gahl, Tzippora Falik-Zaccai

    Published 2010
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  18. 18
    Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

    Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing by Andrew Kirby, Andreas Gnirke, David B. Jaffe, Veronika Barešová, Nathalie Pochet, Brendan Blumenstiel, Chun Ye, Daniel Aird, Christine Stevens, James Robinson, Moran N. Cabili, Irit Gat‐Viks, Edward Kelliher, Riza M. Daza, Matthew DeFelice, Helena Hůlková, Jana Sovová, Petr Vyleťal, Corinne Antignac, Mitchell Guttman, Robert E. Handsaker, Danielle Perrin, Scott Steelman, Snævar Sigurðsson, Steven J. Scheinman, Carrie Sougnez, Kristian Cibulskis, Melissa Parkin, Todd J. Green, Elizabeth J. Rossin, Michael C. Zody, Ramnik J. Xavier, Martin R. Pollak, Seth L. Alper, Kerstin Lindblad‐Toh, Stacey B. Gabriel, P. Suzanne Hart, Aviv Regev, Chad Nusbaum, Stanislav Kmoch, Anthony J. Bleyer, Eric S. Lander, Mark J. Daly

    Published 2013
    Get full text
    Artigo
    Save to List
    Saved in:
  19. 19
    Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

    Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations by Graciana Jaureguiberry, Muriel De La Dure‐Molla, David Parry, Mickaël Quentric, Nina Himmerkus, Toshiyasu Koike, James A. Poulter, Enriko Klootwijk, Steven L. Robinette, Alexander J. Howie, Vaksha Patel, Marie-Lucile Figueres, Horia Stanescu, Naomi Issler, Jeremy K. Nicholson, Detlef Böckenhauer, Christopher Laing, Stephen B. Walsh, David A. McCredie, Sue Povey, Audrey Asselin, Arnaud Picard, Aurore Coulomb, Alan Medlar, Isabelle Bailleul‐Forestier, Alain Verloès, Cédric Le Caignec, G. Roussey, J. Guiol, Bertrand Isidor, Clare V. Logan, Richard F. Shore, Colin A. Johnson, C.F. Inglehearn, Suhaila Al‐Bahlani, Matthieu Schmittbuhl, François Clauss, Mathilde Huckert, Virginie Laugel, Emmanuelle Ginglinger, Sandra Pajarola, Giuseppina Spartà, Deborah Bartholdi, Anita Rauch, Marie-Claude Addor, Paulo Márcio Yamaguti, H.P.N. Safatle, Ana Carolina Acevedo, Hercílio Martelli‐Júnior, Pedro E. dos Santos Netos, Ricardo D. Coletta, Sandra Gruessel, Carolin Sandmann, Denise Ruehmann, Craig B. Langman, Steven J. Scheinman, Didem Özdemır, Thomas C. Hart, P. Suzanne Hart, Ute Neugebauer, Eberhard Schlatter, Pascal Houillier, William A. Gahl, Miikka Vikkula, Agnès Bloch‐Zupan, Markus Bleich, Hiroshi Kitagawa, Robert J. Unwin, Alan J. Mighell, Ariane Berdal, Robert Kleta

    Published 2013
    Get full text Get full text
    Artigo
    Save to List
    Saved in:

Search Tools: