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There are 44915 results for: content related to: Limited ectrodactyly, ectodermal dysplasia and cleft lip–palate syndrome with a p63 mutation, associated with linear and whorled naevoid hypermelanosis

  1. Holoprosencephaly and ectrodactyly: Report of three new patients and review of the literature

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 154C, Issue 1, 15 February 2010, Pages: 170–175, Amelia A. Keaton, Benjamin D. Solomon, Anthonie J. van Essen, Kathleen M. Pfleghaar, Michael A. Slama, Judith A. Martin and Maximilian Muenke

    Version of Record online : 26 JAN 2010, DOI: 10.1002/ajmg.c.30251

  2. 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

  3. Altered localization of gene expression in both ectoderm and mesoderm is associated with a murine strain difference in retinoic acid–induced forelimb ectrodactyly

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 79, Issue 6, June 2007, Pages: 465–482, Hirohito Shimizu, Grace S. Lee, Sudheer R. Beedanagari and Michael D. Collins

    Version of Record online : 2 MAR 2007, DOI: 10.1002/bdra.20358

  4. Genotype–phenotype correlations in mapped split hand foot malformation (SHFM) patients

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 13, 1 July 2006, Pages: 1419–1427, Alison M. Elliott and Jane A. Evans

    Version of Record online : 10 MAY 2006, DOI: 10.1002/ajmg.a.31244

  5. Genetic and pathologic aspects of retinoic acid-induced limb malformations in the mouse

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 88, Issue 10, October 2010, Pages: 863–882, Grace S. Lee, Xiaoyan Liao, Hirohito Shimizu and Michael D. Collins

    Version of Record online : 12 AUG 2010, DOI: 10.1002/bdra.20712

  6. Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype–phenotype correlation

    British Journal of Dermatology

    Volume 162, Issue 1, January 2010, Pages: 201–207, S.E. Clements, T. Techanukul, D. Coman, J.E. Mellerio and J.A. McGrath

    Version of Record online : 9 NOV 2009, DOI: 10.1111/j.1365-2133.2009.09496.x

  7. Expanding the phenotypic spectrum of acro-cardio-facial syndrome (ACFS): Exclusion of P63 mutation

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 8, August 2009, Pages: 1749–1753, Pranoot Tanpaiboon, Rekwan Sittiwangkul, Prapai Dejkhamron, Metawee Srikummool, Warissara Sripathomsawat and Piranit Kantaputra

    Version of Record online : 15 JUL 2009, DOI: 10.1002/ajmg.a.32737

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    p63 gene analysis in Mexican patients with syndromic and non-syndromic ectrodactyly

    Journal of Orthopaedic Research

    Volume 22, Issue 1, January 2004, Pages: 1–5, V. Berdón-Zapata, M. Granillo-Álvarez, M. Valdés-Flores, J. E. García-Ortiz, S. Kofman-Alfaro and J. C. Zenteno

    Version of Record online : 1 JAN 2006, DOI: 10.1016/S0736-0266(03)00166-9

  9. Pattern of p63 mutations and their phenotypes—update

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 13, 1 July 2006, Pages: 1396–1406, Tuula Rinne, Ben Hamel, Hans van Bokhoven and Han G. Brunner

    Version of Record online : 11 MAY 2006, DOI: 10.1002/ajmg.a.31271

  10. EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma

    American Journal of Medical Genetics Part A

    Volume 120A, Issue 3, 30 July 2003, Pages: 370–373, Keiko Akahoshi, Satoru Sakazume, Kenjiro Kosaki, Hirofumi Ohashi and Yoshimitsu Fukushima

    Version of Record online : 9 APR 2003, DOI: 10.1002/ajmg.a.20064

  11. A newborn with overlapping features of AEC and EEC syndromes

    American Journal of Medical Genetics Part A

    Volume 155, Issue 12, December 2011, Pages: 3100–3103, Tolga Hasan Celik, Ayse Buyukcam, Pelin Ozlem Simsek-Kiper, Gulen Eda Utine, Sibel Ersoy-Evans, Ayse Korkmaz, Helger G. Yntema, Koray Bodugroglu and Murat Yurdakok

    Version of Record online : 7 NOV 2011, DOI: 10.1002/ajmg.a.34328

  12. A de novo heterozygous point mutation in the p63 gene causing the syndrome of ectrodactyly, ectodermal dysplasia and facial clefting

    British Journal of Dermatology

    Volume 151, Issue 4, October 2004, Pages: 930–932, G. Pozo, S. Canún, S. Kofman-Alfaro and J.C. Zenteno

    Version of Record online : 15 OCT 2004, DOI: 10.1111/j.1365-2133.2004.06185.x

  13. 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

  14. An allelic series of Trp63 mutations defines TAp63 as a modifier of EEC syndrome

    American Journal of Medical Genetics Part A

    Volume 161, Issue 8, August 2013, Pages: 1961–1971, Emma Vernersson Lindahl, Elvin L. Garcia and Alea A. Mills

    Version of Record online : 14 JUN 2013, DOI: 10.1002/ajmg.a.36074

  15. Distal limb malformations: underlying mechanisms and clinical associations

    Clinical Genetics

    Volume 60, Issue 3, September 2001, Pages: 165–172, S Sifakis, D Basel, P Ianakiev, MW Kilpatrick and P Tsipouras

    Version of Record online : 12 JAN 2002, DOI: 10.1034/j.1399-0004.2001.600301.x

  16. Sensitivity to cadmium chloride-induced forelimb ectrodactyly is independent of the p53 gene-dosage in the C57BL/6J mouse

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 88, Issue 4, April 2010, Pages: 223–227, Ahmed F. Elsaid, Khaled M. M. Koriem and Michael D. Collins

    Version of Record online : 8 MAR 2010, DOI: 10.1002/bdra.20652

  17. Heterozygous DLX5 nonsense mutation associated with isolated split-hand/foot malformation with reduced penetrance and variable expressivity in two unrelated families

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 100, Issue 10, October 2014, Pages: 764–771, Anna Sowińska-Seidler, Magdalena Badura-Stronka, Anna Latos-Bieleńska, Michał Stronka and Aleksander Jamsheer

    Version of Record online : 5 SEP 2014, DOI: 10.1002/bdra.23298

  18. Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 13, 1 July 2006, Pages: 1375–1383, David B. Everman, Chad T. Morgan, Robert Lyle, Mary E. Laughridge, Michael J. Bamshad, Katie B. Clarkson, Randall Colby, Fiorella Gurrieri, A. Micheil Innes, Jacquelyn Roberson, Connie Schrander-Stumpel, Hans van Bokhoven, Stylianos E. Antonarakis and Charles E. Schwartz

    Version of Record online : 7 JUN 2006, DOI: 10.1002/ajmg.a.31246

  19. A new observation of acro-cardio-facial syndrome substantiates interindividual clinical variability

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 1, 1 July 2005, Pages: 84–86, Rita Mingarelli, Daniela Zuccarello, Maria Cristina Digilio and Bruno Dallapiccola

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.a.30770

  20. ADULT ectodermal dysplasia syndrome resulting from the missense mutation R298Q in the p63 gene

    Clinical and Experimental Dermatology

    Volume 29, Issue 6, November 2004, Pages: 669–672, I. Chan, J. I. Harper, J. E. Mellerio and J. A. McGrath

    Version of Record online : 18 NOV 2004, DOI: 10.1111/j.1365-2230.2004.01643.x