Search Results

There are 11034 results for: content related to: Xp22.3 microdeletion including VCX-A and VCX-B1 genes in an X-linked ichthyosis family: no difference in deletion size for patients with and without mental retardation

  1. Molecular cytogenetic analysis of a familial interstitial deletion Xp22.2-22.3 with a highly variable phenotype in female carriers

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 6, 15 March 2006, Pages: 604–610, Sylwia Chocholska, Eva Rossier, Gotthold Barbi and Hildegard Kehrer-Sawatzki

    Version of Record online : 6 FEB 2006, DOI: 10.1002/ajmg.a.31145

  2. Deletions of VCX-A and NLGN4: a variable phenotype including normal intellect

    Journal of Intellectual Disability Research

    Volume 51, Issue 5, May 2007, Pages: 329–333, M. Macarov, M. Zeigler, J. P. Newman, D. Strich, V. Sury, A. Tennenbaum and V. Meiner

    Version of Record online : 21 DEC 2006, DOI: 10.1111/j.1365-2788.2006.00880.x

  3. The Xp contiguous deletion syndrome and autism

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 6, June 2009, Pages: 1138–1148, Marwan Shinawi, Ankita Patel, Prisana Panichkul, Roxanne Zascavage, Sarika U. Peters and Fernando Scaglia

    Version of Record online : 13 MAY 2009, DOI: 10.1002/ajmg.a.32833

  4. Analysis of the VCX3A, VCX2 and VCX3B genes shows that VCX3A gene deletion is not sufficient to result in mental retardation in X-linked ichthyosis

    British Journal of Dermatology

    Volume 158, Issue 3, March 2008, Pages: 483–486, S.A. Cuevas-Covarrubias and L.M. González-Huerta

    Version of Record online : 12 DEC 2007, DOI: 10.1111/j.1365-2133.2007.08373.x

  5. Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH

    American Journal of Medical Genetics Part A

    Volume 139A, Issue 3, 15 December 2005, Pages: 173–185, C. Tyson, C. Harvard, R. Locker, J.M. Friedman, S. Langlois, M.E.S. Lewis, M. Van Allen, M. Somerville, L. Arbour, L. Clarke, B. McGilivray, S.L. Yong, J. Siegel-Bartel and E. Rajcan-Separovic

    Version of Record online : 10 NOV 2005, DOI: 10.1002/ajmg.a.31015

  6. A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHD

    American Journal of Medical Genetics Part A

    Volume 122A, Issue 2, 1 October 2003, Pages: 139–147, Kym M. Boycott, Malcolm I. Parslow, Judith L. Ross, Ivan P. Miller, N. Torben Bech-Hansen and Patrick M. MacLeod

    Version of Record online : 3 JUN 2003, DOI: 10.1002/ajmg.a.20231

  7. FG syndrome: Linkage analysis in two families supporting a new gene localization at Xp22.3 [FGS3]

    American Journal of Medical Genetics

    Volume 112, Issue 1, 15 September 2002, Pages: 6–11, Sabine Dessay, Marie Pierre Moizard, Jean Louis Gilardi, John M. Opitz, Helen Middleton-Price, Marcus Pembrey, Claude Moraine and Sylvain Briault

    Version of Record online : 8 JUL 2002, DOI: 10.1002/ajmg.10546

  8. You have free access to this content
    An Xp; Yq Translocation Causing a Novel Contiguous Gene Syndrome in Brothers with Generalized Epilepsy, Ichthyosis, and Attention Deficits

    Epilepsia

    Volume 44, Issue 12, December 2003, Pages: 1529–1535, Michael J. Doherty, Ian A. Glass, Craig L. Bennett, Phil D. Cotter, Nate F. Watson, Anna L. Mitchell, Tom D. Bird and Don F. Farrell

    Version of Record online : 25 NOV 2003, DOI: 10.1111/j.0013-9580.2003.61702.x

  9. First reported case of intrachromosomal cryptic inv dup del Xp in a boy with developmental retardation

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 11, 1 June 2007, Pages: 1236–1243, Celine Dupont, Aziza Lebbar, Cecile Teinturier, Françoise Baverel, Geraldine Viot, Dominique Le Tessier, Jerome Le Bozec, Laurence Cuisset and Jean-Michel Dupont

    Version of Record online : 11 MAY 2007, DOI: 10.1002/ajmg.a.31744

  10. Regulation of mRNA decapping

    Wiley Interdisciplinary Reviews: RNA

    Volume 1, Issue 2, September/October 2010, Pages: 253–265, You Li and Megerditch Kiledjian

    Version of Record online : 6 MAY 2010, DOI: 10.1002/wrna.15

  11. Incidental prenatal detection of an Xp deletion using an anonymous primer pair for fetal sexing

    Prenatal Diagnosis

    Volume 20, Issue 10, October 2000, Pages: 842–846, Sibylle Jakubiczka, Beate Mitulla, Thomas Liehr, Joachim Arnemann, Hans Lehrach, Ralf Sudbrak, Markus Stumm, Peter F. Wieacker and Thomas Bettecken

    Version of Record online : 13 OCT 2000, DOI: 10.1002/1097-0223(200010)20:10<842::AID-PD915>3.0.CO;2-G

  12. Diagnosis of a terminal deletion of 4p with duplication of Xp22.31 in a patient with findings of Opitz G/BBB syndrome and Wolf–Hirschhorn syndrome

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 1, 1 January 2008, Pages: 103–109, Joyce So, Ines Müller, Melanie Kunath, Susanne Herrmann, Reinhard Ullmann and Susann Schweiger

    Version of Record online : 11 DEC 2007, DOI: 10.1002/ajmg.a.32055

  13. You have free access to this content
    Steroid sulfatase deficiency and contiguous gene deletion syndrome amongst pregnant patients with low serum unconjugated estriols

    Prenatal Diagnosis

    Volume 29, Issue 10, October 2009, Pages: 966–974, Sylvie Langlois, Linlea Armstrong, Kim Gall, Gurdip Hulait, Janet Livingston, Tanya Nelson, Patricia Power, Denise Pugash, Dawn Siciliano, Michelle Steinraths and André Mattman

    Version of Record online : 16 JUL 2009, DOI: 10.1002/pd.2326

  14. You have free access to this content
    Intrinsic and apparent short-time limits for fault healing: Theory, observations, and implications for velocity-dependent friction

    Journal of Geophysical Research: Solid Earth (1978–2012)

    Volume 111, Issue B12, December 2006, Masao Nakatani and Christopher H. Scholz

    Version of Record online : 30 DEC 2006, DOI: 10.1029/2005JB004096

  15. Further delineation of Wittwer syndrome and refinement of the mapping region

    American Journal of Medical Genetics Part A

    Volume 116A, Issue 1, 1 January 2003, Pages: 57–60, Ilse Wieland, Petra Muschke and Peter Wieacker

    Version of Record online : 30 AUG 2002, DOI: 10.1002/ajmg.a.10874

  16. Experimentally induced visual projections to the auditory thalamus in ferrets: Evidence for a W cell pathway

    Journal of Comparative Neurology

    Volume 334, Issue 2, 8 August 1993, Pages: 263–280, Anna W. Roe, Preston E. Garraghty, Manuel Esguerra and Mriganka Sur

    Version of Record online : 9 OCT 2004, DOI: 10.1002/cne.903340208

  17. You have free access to this content
    Functional dependence on calcineurin by variants of the Saccharomyces cerevisiae vacuolar Ca2+/H+ exchanger Vcx1p

    Molecular Microbiology

    Volume 54, Issue 4, November 2004, Pages: 1104–1116, Jon K. Pittman, Ning-Hui Cheng, Toshiro Shigaki, Madhurababu Kunta and Kendal D. Hirschi

    Version of Record online : 22 SEP 2004, DOI: 10.1111/j.1365-2958.2004.04332.x

  18. A shared promoter region suggests a common ancestor for the human VCX/Y, SPANX, and CSAG gene families and the murine CYPT family

    Molecular Reproduction and Development

    Volume 75, Issue 2, February 2008, Pages: 219–229, Martin A. Hansen, John E. Nielsen, Dorota Retelska, Niels Larsen and Henrik Leffers

    Version of Record online : 6 MAR 2007, DOI: 10.1002/mrd.20651

  19. Novel homozygous deletion of segmental KAL1 and entire STS cause Kallmann syndrome and X-linked ichthyosis in a Chinese family

    Andrologia

    Volume 47, Issue 10, December 2015, Pages: 1160–1165, H. Xu, Z. Li, T. Wang, S. Wang, J. Liu and D. W. Wang

    Version of Record online : 19 JAN 2015, DOI: 10.1111/and.12397

  20. mRNAs Coding for neurotransmitter receptors in rabbit and rat visual areas

    Journal of Neuroscience Research

    Volume 35, Issue 6, 15 August 1993, Pages: 652–663, C. Matute, Q.-T. Nguyen and R. Miledi

    Version of Record online : 11 OCT 2004, DOI: 10.1002/jnr.490350608