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There are 6074 results for: content related to: Pattern of p63 mutations and their phenotypes—update

  1. P63 gene mutations and human developmental syndromes

    American Journal of Medical Genetics

    Volume 112, Issue 3, 15 October 2002, Pages: 284–290, Han G. Brunner, Ben C.J. Hamel and Hans van Bokhoven

    Version of Record online : 25 SEP 2002, DOI: 10.1002/ajmg.10778

  2. You have free access to this content
    Spectrum of p63 mutations in a selected patient cohort affected with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC)

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 9, September 2009, Pages: 1948–1951, Tuula Rinne, Emine Bolat, Rowdy Meijer, Hans Scheffer and Hans van Bokhoven

    Version of Record online : 12 AUG 2009, DOI: 10.1002/ajmg.a.32793

  3. Rapp–Hodgkin ectodermal dysplasia syndrome: The clinical and molecular overlap with Hay–Wells syndrome

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 8, 15 April 2006, Pages: 887–891, Peter Kannu, Ravi Savarirayan, Linda Ozoemena, Susan M. White and John A. McGrath

    Version of Record online : 10 MAR 2006, DOI: 10.1002/ajmg.a.31187

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    Differential PERP regulation by TP63 mutants provides insight into AEC pathogenesis

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 9, September 2009, Pages: 1952–1957, Veronica G. Beaudry, Navneeta Pathak, Maranke I. Koster and Laura D. Attardi

    Version of Record online : 7 APR 2009, DOI: 10.1002/ajmg.a.32760

  5. Isolated ectrodactyly caused by a heterozygous missense mutation in the transactivation domain of TP63

    American Journal of Medical Genetics Part A

    Volume 134A, Issue 1, 1 April 2005, Pages: 74–76, Juan Carlos Zenteno, Valeria Berdón-Zapata, Susana Kofman-Alfaro and Osvaldo M. Mutchinick

    Version of Record online : 25 FEB 2005, DOI: 10.1002/ajmg.a.30277

  6. EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype–phenotype correlation?

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 10, 15 May 2007, Pages: 1114–1119, Kenneth Maclean, Stephen A. Holme, Elizabeth Gilmour, Mark Taylor, Heide Scheffer, Nicole Graf, Grahame H.H. Smith, Ella Onikul, Hans van Bokhoven, Celia Moss and Lesley C. Adès

    Version of Record online : 12 APR 2007, DOI: 10.1002/ajmg.a.31664

  7. Molecular basis of choroideremia (CHM): Mutations involving the rab escort protein-1 (REP-1) gene

    Human Mutation

    Volume 9, Issue 2, 1997, Pages: 110–117, JAJM van den Hurk, M Schwartz, H van Bokhoven, TJR van de Pol, L Bogerd, AJLG Pinckers, EM Bleeker-Wagemakers, IH Pawlowitzki, K Rüther, H-H Ropers and FPM Cremers

    Version of Record online : 7 JAN 1999, DOI: 10.1002/(SICI)1098-1004(1997)9:2<110::AID-HUMU2>3.0.CO;2-D

  8. A novel de novo missense mutation in TP63 underlying germline mosaicism in AEC syndrome: Implications for recurrence risk and prenatal diagnosis

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 8, August 2012, Pages: 1957–1961, Vanessa Barbaro, Paola Nardiello, Giuseppe Castaldo, Colin E. Willoughby, Stefano Ferrari, Diego Ponzin, Felice Amato, Ernesto Bonifazi, Mohit Parekh, Arianna Calistri, Cristina Parolin and Enzo Di Iorio

    Version of Record online : 27 JUN 2012, DOI: 10.1002/ajmg.a.35414

  9. Further phenotypic and genetic variation in ADULT syndrome

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 22, 15 November 2006, Pages: 2495–2500, Tom T. Reisler, Michael A. Patton and Peter P.J. Meagher

    Version of Record online : 13 OCT 2006, DOI: 10.1002/ajmg.a.31482

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    Extending the impact of stress on hippocampal neurogenesis (Commentary on P. Van Bokhoven et al.)

    European Journal of Neuroscience

    Volume 33, Issue 10, May 2011, Page: 1832, Carmen Sandi

    Version of Record online : 16 MAY 2011, DOI: 10.1111/j.1460-9568.2011.07703.x

  11. Molecular characterization of human prostate carcinoma cell lines

    The Prostate

    Volume 57, Issue 3, 1 November 2003, Pages: 205–225, Adrie van Bokhoven, Marileila Varella-Garcia, Christopher Korch, Widya U. Johannes, E. Erin Smith, Heidi L. Miller, Steven K. Nordeen, Gary J. Miller and M. Scott Lucia

    Version of Record online : 23 SEP 2003, DOI: 10.1002/pros.10290

  12. The Dynamic Structure of Gold Supported on Ceria in the Liquid Phase Hydrogenation of Nitrobenzene

    ChemCatChem

    Volume 4, Issue 2, February 6, 2012, Pages: 236–242, Christiane Kartusch, Martin Makosch, Jacinto Sá, Prof. Dr. Konrad Hungerbuehler and Prof. Dr. Jeroen A. van Bokhoven

    Version of Record online : 12 DEC 2011, DOI: 10.1002/cctc.201100187

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    Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium

    Human Mutation

    Volume 28, Issue 2, February 2007, Pages: 207–208, Arjan P.M. de Brouwer, Helger G. Yntema, Tjitske Kleefstra, Dorien Lugtenberg, Astrid R. Oudakker, Bert B.A. de Vries, Hans van Bokhoven, Hilde Van Esch, Suzanne G.M. Frints, Guy Froyen, Jean-Pierre Fryns, Martine Raynaud, Marie-Pierre Moizard, Nathalie Ronce, Anissa Bensalem, Claude Moraine, Karine Poirier, Laetitia Castelnau, Yoann Saillour, Thierry Bienvenu, Chérif Beldjord, Vincent des Portes, Jamel Chelly, Gillian Turner, Tod Fullston, Jozef Gecz, Andreas W. Kuss, Andreas Tzschach, Lars Riff Jensen, Steffen Lenzner, Vera M. Kalscheuer, Hans-Hilger Ropers and Ben C.J. Hamel

    Version of Record online : 12 JAN 2007, DOI: 10.1002/humu.9482

  14. Limb-mammary syndrome (LMS) associated with internal female genitalia dysgenesia: A new genotype/phenotype correlation?

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 15, 1 August 2008, Pages: 2001–2004, Laura Guazzarotti, Cristiana Caprio, Tuula K. Rinne, Mariangela Bosoni, Giulia Pattarino, Silvia Mauri, Gian Luca Tadini, Hans van Bokhoven and Gian Vincenzo Zuccotti

    Version of Record online : 14 JUL 2008, DOI: 10.1002/ajmg.a.32371

  15. Feingold syndrome associated with two novel MYCN mutations in sporadic and familial cases including monozygotic twins

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 17, 1 September 2008, Pages: 2304–2307, Bettina Blaumeiser, Barbara Oehl-Jaschkowitz, Wiktor Borozdin and Jürgen Kohlhase

    Version of Record online : 31 JUL 2008, DOI: 10.1002/ajmg.a.32444

  16. A Critical Assessment of the Direct Catalytic Oxidation of Methane to Methanol

    Angewandte Chemie

    Accepted manuscript online: 23 JUN 2017, Manoj Ravi, Marco Ranocchiari and Jeroen A. van Bokhoven

    DOI: 10.1002/ange.201702550

  17. A Critical Assessment of the Direct Catalytic Oxidation of Methane to Methanol

    Angewandte Chemie International Edition

    Accepted manuscript online: 23 JUN 2017, Manoj Ravi, Marco Ranocchiari and Jeroen A. van Bokhoven

    DOI: 10.1002/anie.201702550

  18. Aluminum in Zeolites: Where is it and What is its Structure?

    Zeolites and Catalysis: Synthesis, Reactions and Applications

    Jeroen A. van Bokhoven, Nadiya Danilina, Pages: 283–300, 2010

    Published Online : 9 JUN 2010, DOI: 10.1002/9783527630295.ch10

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    Craniofacial and anthropometric phenotype in ankyloblepharon–ectodermal defects–cleft lip/palate syndrome (Hay–Wells syndrome) in a cohort of 17 patients

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 9, September 2009, Pages: 1916–1921, V. Reid Sutton, Katie Plunkett, Diane X. Dang, Richard A. Lewis, Alanna F. Bree and Carlos A. Bacino

    Version of Record online : 12 AUG 2009, DOI: 10.1002/ajmg.a.32791

  20. Genotype–phenotype correlations in MYCN-related Feingold syndrome

    Human Mutation

    Volume 29, Issue 9, September 2008, Pages: 1125–1132, Carlo L.M. Marcelis, Frans A. Hol, Gail E. Graham, Paul N.M.A. Rieu, Richard Kellermayer, Rowdy P.P. Meijer, Dorien Lugtenberg, Hans Scheffer, Hans van Bokhoven, Han G. Brunner and Arjan P.M. de Brouwer

    Version of Record online : 9 MAY 2008, DOI: 10.1002/humu.20750