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There are 23727 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

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

  2. 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

    Version of Record online : 11 MAY 2006, DOI: 10.1002/ajmg.a.31247

  3. 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

  4. 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

    Version of Record online : 16 JUN 2003, DOI: 10.1002/ajmg.a.20348

  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

    Version of Record online : 8 JUN 2006, DOI: 10.1002/ajmg.a.31304

  6. 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

    Version of Record online : 31 AUG 2005, DOI: 10.1111/j.1399-0004.2005.00511.x

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    Clinical, genetic, and molecular aspects of split-hand/foot malformation: An update

    American Journal of Medical Genetics Part A

    Volume 161, Issue 11, November 2013, Pages: 2860–2872, Fiorella Gurrieri and David B. Everman

    Version of Record online : 24 SEP 2013, DOI: 10.1002/ajmg.a.36239

  8. 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

  9. 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

    Version of Record online : 21 NOV 2006, DOI: 10.1002/bdra.20317

  10. 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

    Version of Record online : 7 APR 2009, DOI: 10.1002/ajmg.a.32748

  11. You have free access to this content
    Split hand malformation, hypospadias, microphthalmia, distinctive face and short stature in two brothers suggest a new syndrome

    American Journal of Medical Genetics Part A

    Volume 135A, Issue 1, 15 May 2005, Pages: 21–27, Jose E. García-Ortiz, Felipe Banda-Espinoza, Juan C. Zenteno, Luz M. Galván-Uriarte, Pablo Ruiz-Flores and Diana García-Cruz

    Version of Record online : 4 APR 2005, DOI: 10.1002/ajmg.a.30696

  12. Split Hand Foot Malformation (SHFM)

    Clinical Genetics

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

    Version of Record online : 18 OCT 2005, DOI: 10.1111/j.1399-0004.2005.00530.x

  13. 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

    Version of Record online : 20 NOV 2012, DOI: 10.1002/ajmg.a.35644

  14. 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

    Version of Record online : 28 MAR 2008, DOI: 10.1002/bdra.20452

  15. 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

    Version of Record online : 27 MAY 2011, DOI: 10.1111/j.1399-0004.2011.01698.x

  16. Three new patients with FATCO: Fibular agenesis with ectrodactyly

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 7, July 2012, Pages: 1542–1550, Tadeusz Bieganski, Aleksander Jamsheer, Anna Sowinska, Dobromila Baranska, Kryspin Niedzielski, Kazimierz Kozlowski and Malwina Czarny-Ratajczak

    Version of Record online : 24 MAY 2012, DOI: 10.1002/ajmg.a.35369

  17. Evidence for an additional locus for split hand/foot malformation in chromosome region 8q21.11–q22.3

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 16, 15 August 2006, Pages: 1744–1748, Christina A. Gurnett, Matthew B. Dobbs, Eric J. Nordsieck, Cassie Keppel, Charles A. Goldfarb, Jose A. Morcuende and Anne M. Bowcock

    Version of Record online : 12 JUL 2006, DOI: 10.1002/ajmg.a.31375

  18. Prenatal diagnosis of concomitant Wolf–Hirschhorn syndrome and split hand-foot malformation associated with partial monosomy 4p (4p16.1[RIGHTWARDS ARROW]pter) and partial trisomy 10q (10q25.1[RIGHTWARDS ARROW]qter)

    Prenatal Diagnosis

    Volume 28, Issue 5, May 2008, Pages: 450–453, Chih-Ping Chen, Yann-Jang Chen, Schu-Rern Chern, Fuu-Jen Tsai, Tung-Yao Chang, Chen-Chi Lee, Dai-Dyi Town, Meng-Shan Lee and Wayseen Wang

    Version of Record online : 8 APR 2008, DOI: 10.1002/pd.1993

  19. 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

    Version of Record online : 3 MAY 2006, DOI: 10.1002/ajmg.a.31245

  20. Fine mapping of the X-linked split-hand/split-foot malformation (SHFM2) locus to a 5.1-Mb region on Xq26.3 and analysis of candidate genes

    Clinical Genetics

    Volume 67, Issue 1, January 2005, Pages: 93–97, M Faiyaz-Ul-Haque, SHE Zaidi, LM King, S Haque, M Patel, M Ahmad, T Siddique, W Ahmad, L-C Tsui and DH Cohn

    Version of Record online : 25 OCT 2004, DOI: 10.1111/j.1399-0004.2004.00369.x