Search Results

There are 2995516 results for: content related to: Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array-based comparative genomic hybridization

  1. 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

    Article first published online : 7 JUN 2006, DOI: 10.1002/ajmg.a.31246

  2. 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

    Article first published online : 10 MAY 2006, DOI: 10.1002/ajmg.a.31244

  3. Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 13, 1 July 2006, Pages: 1384–1395, Robert Lyle, Uppala Radhakrishna, Jean-Louis Blouin, Sarantis Gagos, David B. Everman, Corinne Gehrig, Celia Delozier-Blanchet, Jitendra V. Solanki, Uday C. Patel, Swapan K. Nath, Fiorella Gurrieri, Giovanni Neri, Charles E. Schwartz and Stylianos E. Antonarakis

    Article first published online : 11 MAY 2006, DOI: 10.1002/ajmg.a.31247

  4. Tranferrins receptor association and endosomal localization of soluble HFE are not sufficient for regulation of cellular iron homeostasis

    Journal of Cellular Biochemistry

    Volume 91, Issue 6, 15 April 2004, Pages: 1130–1145, Nihay Laham, Rinat Rotem-Yehudar, Chana Shechter, John E. Coligan and Rachel Ehrlich

    Article first published online : 4 MAR 2004, DOI: 10.1002/jcb.20015

  5. The expanding panorama of split hand foot malformation

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 13, 1 July 2006, Pages: 1359–1365, Donald Basel, Michael W. Kilpatrick and Petros Tsipouras

    Article first published online : 8 JUN 2006, DOI: 10.1002/ajmg.a.31304

  6. Split hand/split foot malformation with hearing loss: first report of families linked to the SHFM1 locus in 7q21

    Clinical Genetics

    Volume 59, Issue 1, January 2001, Pages: 28–36, D Tackels-Horne, A Toburen, E Sangiorgi, F Gurrieri, X De Mollerat, R Fischetto, F Causio, K Clarkson, Re Stevenson and Ce Schwartz

    Article first published online : 20 DEC 2001, DOI: 10.1034/j.1399-0004.2001.590105.x

  7. Clinical and epidemiological findings in patients with central ray deficiency: Split hand foot malformation (SHFM) in Manitoba, Canada

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 13, 1 July 2006, Pages: 1428–1439, Alison M. Elliott, Martin H. Reed, Albert E. Chudley, Bernard N. Chodirker and Jane A. Evans

    Article first published online : 3 MAY 2006, DOI: 10.1002/ajmg.a.31245

  8. Split Hand Foot Malformation (SHFM)

    Clinical Genetics

    Volume 68, Issue 6, December 2005, Pages: 501–505, AM Elliott, JA Evans and AE Chudley

    Article first published online : 18 OCT 2005, DOI: 10.1111/j.1399-0004.2005.00530.x

  9. A 0.7 Mb de novo duplication at 7q21.3 including the genes DLX5 and DLX6 in a patient with split-hand/split-foot malformation

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 12, December 2012, Pages: 3201–3206, Milen Velinov, Ausaf Ahmad, Brigette Brown-Kipphut, Mustafa Shafiq, Jonathan Blau, Ruby Cooma, Philip Roth and M. Anwar Iqbal

    Article first published online : 20 NOV 2012, DOI: 10.1002/ajmg.a.35644

  10. The association of split hand foot malformation (SHFM) and congenital heart defects

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 82, Issue 6, June 2008, Pages: 425–434, Alison M. Elliott and Jane A. Evans

    Article first published online : 28 MAR 2008, DOI: 10.1002/bdra.20452

  11. A novel homozygous missense mutation in WNT10B in familial split-hand/foot malformation

    Clinical Genetics

    Volume 82, Issue 1, July 2012, Pages: 48–55, S Khan, S Basit, F K Zimri, N Ali, G Ali, M Ansar and W Ahmad

    Article first published online : 27 MAY 2011, DOI: 10.1111/j.1399-0004.2011.01698.x

  12. Triphalangeal thumb in association with split hand/foot: A phenotypic marker for SHFM3?

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 79, Issue 1, January 2007, Pages: 58–61, Alison M. Elliott, Martin H. Reed and Jane A. Evans

    Article first published online : 21 NOV 2006, DOI: 10.1002/bdra.20317

  13. Characterization of the complex 7q21.3 rearrangement in a patient with bilateral split-foot malformation and hearing loss

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 6, June 2009, Pages: 1224–1230, Hirotomo Saitsu, Kenji Kurosawa, Hiroki Kawara, Maki Eguchi, Takeshi Mizuguchi, Naoki Harada, Tadashi Kaname, Hiroki Kano, Noriko Miyake, Tatsushi Toda and Naomichi Matsumoto

    Article first published online : 15 MAY 2009, DOI: 10.1002/ajmg.a.32877

  14. Discrepancies in upper and lower limb patterning in split hand foot malformation

    Clinical Genetics

    Volume 68, Issue 5, November 2005, Pages: 408–423, AM Elliott, MH Reed, T Roscioli and JA Evans

    Article first published online : 31 AUG 2005, DOI: 10.1111/j.1399-0004.2005.00511.x

  15. The 10q24-linked split hand/split foot syndrome (SHFM3): Narrowing of the critical region and confirmation of the clinical phenotype

    American Journal of Medical Genetics Part A

    Volume 124A, Issue 2, 15 January 2004, Pages: 136–141, Tony Roscioli, Peter J. Taylor, Andrew Bohlken, Jennifer A. Donald, John Masel, Ian A. Glass and Michael F. Buckley

    Article first published online : 16 JUN 2003, DOI: 10.1002/ajmg.a.20348

  16. Split hand foot malformation is associated with a reduced level of Dactylin gene expression

    Clinical Genetics

    Volume 64, Issue 4, October 2003, Pages: 350–354, D Basel, A DePaepe, MW Kilpatrick and P Tsipouras

    Article first published online : 15 SEP 2003, DOI: 10.1034/j.1399-0004.2003.00153.x

  17. Split hand-foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion—evidence for further heterogeneity?

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 5, May 2009, Pages: 975–981, Emmelien Aten, Nicolette den Hollander, Claudia Ruivenkamp, Jeroen Knijnenburg, Hans van Bokhoven, Johan den Dunnen and Martijn Breuning

    Article first published online : 7 APR 2009, DOI: 10.1002/ajmg.a.32748

  18. CLINICAL AUDIT, GUIDELINES AND STANDARDS: A PRODUCTIVE RELATION FOR MANAGING CLINICAL PRACTICES

    Financial Accountability & Management

    Volume 27, Issue 1, February 2011, Pages: 83–101, Simona Scarparo

    Article first published online : 19 JAN 2011, DOI: 10.1111/j.1468-0408.2010.00517.x

  19. Bilateral complete radioulnar synostosis associated with ectrodactyly and sensorineural hearing loss: a variant of SHFM1

    Clinical Genetics

    Volume 65, Issue 2, February 2004, Pages: 153–155, Ph Debeer

    Article first published online : 29 JAN 2004, DOI: 10.1111/j.0009-9163.2004.00202.x

  20. Ab initio Green's function calculation of hyperfine interactions for shallow defects in semiconductors

    physica status solidi (b)

    Volume 248, Issue 6, June 2011, Pages: 1319–1336, U. Gerstmann

    Article first published online : 24 SEP 2010, DOI: 10.1002/pssb.201046237