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There are 6911854 results for: content related to: Tandem repeat polymorphisms as modulators of biological function and dysfunction

  1. You have free access to this content
    A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome

    Human Mutation

    Volume 33, Issue 8, August 2012, Pages: 1251–1260, Jorieke E.H. Bergman, Nicole Janssen, Almer M. van der Sloot, Hermien E.K. de Walle, Jeroen Schoots, Nanna D. Rendtorff, Lisbeth Tranebjærg, Lies H. Hoefsloot, Conny M.A. van Ravenswaaij-Arts and Robert M.W. Hofstra

    Article first published online : 11 MAY 2012, DOI: 10.1002/humu.22106

  2. You have free access to this content
    Integrated evaluation of CHD7 missense substitutions for CHARGE syndrome clinical genetics

    Human Mutation

    Volume 33, Issue 8, August 2012, Page: v, Sean Tavtigian

    Article first published online : 13 JUL 2012, DOI: 10.1002/humu.22578

  3. Mutation update on the CHD7 gene involved in CHARGE syndrome

    Human Mutation

    Volume 33, Issue 8, August 2012, Pages: 1149–1160, Nicole Janssen, Jorieke E. H. Bergman, Morris A. Swertz, Lisbeth Tranebjaerg, Marianne Lodahl, Jeroen Schoots, Robert M. W. Hofstra, Conny M. A. van Ravenswaaij-Arts and Lies H. Hoefsloot

    Article first published online : 16 APR 2012, DOI: 10.1002/humu.22086

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    CHD7 Maintains Neural Stem Cell Quiescence and Prevents Premature Stem Cell Depletion in the Adult Hippocampus

    STEM CELLS

    Volume 33, Issue 1, January 2015, Pages: 196–210, Kieran M. Jones, Nemanja Sarić, John P. Russell, Cynthia L. Andoniadou, Peter J. Scambler and M. Albert Basson

    Article first published online : 18 DEC 2014, DOI: 10.1002/stem.1822

  5. Chromodomain proteins in development: lessons from CHARGE syndrome

    Clinical Genetics

    Volume 78, Issue 1, July 2010, Pages: 11–20, WS Layman, EA Hurd and DM Martin

    Article first published online : 8 APR 2010, DOI: 10.1111/j.1399-0004.2010.01446.x

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    Identification of CHD7S as a novel splicing variant of CHD7 with functions similar and antagonistic to those of the full-length CHD7L

    Genes to Cells

    Volume 17, Issue 7, July 2012, Pages: 536–547, Yasuyuki Kita, Masaaki Nishiyama and Keiichi I. Nakayama

    Article first published online : 31 MAY 2012, DOI: 10.1111/j.1365-2443.2012.01606.x

  7. Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 3, March 2010, Pages: 674–686, Gabriel E. Zentner, Wanda S. Layman, Donna M. Martin and Peter C. Scacheri

    Article first published online : 22 FEB 2010, DOI: 10.1002/ajmg.a.33323

  8. Journal of Forensic Sciences Subject Index to Volume 51 2006

    Journal of Forensic Sciences

    Volume 51, Issue 6, November 2006, Pages: 1473–1513,

    Article first published online : 8 DEC 2006, DOI: 10.1111/j.1556-4029.2006.subindex_1.x

  9. Automated sample processing using robotics for genetic typing of short tandem repeat polymorphisms by capillary electrophoresis

    Laboratory Robotics and Automation

    Volume 9, Issue 1, 1997, Pages: 3–7, Phillip Belgrader and Michael A. Marino

    Article first published online : 7 DEC 1998, DOI: 10.1002/(SICI)1098-2728(1997)9:1<3::AID-LRA2>3.0.CO;2-4

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    CHD7 gene and non-syndromic cleft lip and palate

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 19, 1 October 2006, Pages: 2110–2114, Têmis M. Félix, Benjamin C. Hanshaw, Robert Mueller, Pierre Bitoun and Jeffrey C. Murray

    Article first published online : 8 JUN 2006, DOI: 10.1002/ajmg.a.31308

  11. Multiplexed short tandem repeat polymorphisms of the Weber 8A set of markers using tailed primers and infrared fluorescence detection

    ELECTROPHORESIS

    Volume 19, Issue 18, December 1998, Pages: 3079–3083, William S. Oetting, Catherine M. Armstrong, Shawn M. Ronan, Terri L. Young, Thomas A. Sellers and Richard A. King

    Article first published online : 14 APR 2005, DOI: 10.1002/elps.1150191806

  12. Carrier detection and microsatellite analysis of duchenne and becker muscular dystrophy in spanish families

    Prenatal Diagnosis

    Volume 14, Issue 2, February 1994, Pages: 123–130, Helena Kruyer, Merce Miranda, Victor Volpini and Xavier Estivill

    Article first published online : 22 NOV 2005, DOI: 10.1002/pd.1970140208

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    The thymidylate synthase tandem repeat promoter polymorphism: A predictor for tumor-related survival in neoadjuvant treated locally advanced gastric cancer

    International Journal of Cancer

    Volume 119, Issue 12, 15 December 2006, Pages: 2885–2894, Katja Ott, Holger Vogelsang, Noemi Marton, Karen Becker, Florian Lordick, Michael Kobl, Christoph Schuhmacher, Alexander Novotny, James Mueller, Ulrich Fink, Kurt Ulm, Jörg Rüdiger Siewert, Heinz Höfler and Gisela Keller

    Article first published online : 23 AUG 2006, DOI: 10.1002/ijc.22235

  14. Defects in vestibular sensory epithelia and innervation in mice with loss of Chd7 function: Implications for human CHARGE syndrome

    Journal of Comparative Neurology

    Volume 504, Issue 5, 10 October 2007, Pages: 519–532, Meredith E. Adams, Elizabeth A. Hurd, Lisa A. Beyer, Donald L. Swiderski, Yehoash Raphael and Donna M. Martin

    Article first published online : 13 AUG 2007, DOI: 10.1002/cne.21460

  15. Segregation analysis of tetra- and pentanucleotide short tandem repeat polymorphisms: Deviation from Mendelian expectations

    ELECTROPHORESIS

    Volume 20, Issue 8, 1 January 1999, Pages: 1697–1701, Filipe Silva, Leonor Gusmão and António Amorim

    Article first published online : 24 JUN 1999, DOI: 10.1002/(SICI)1522-2683(19990101)20:8<1697::AID-ELPS1697>3.0.CO;2-3

  16. CHD7 mutations in patients initially diagnosed with Kallmann syndrome – the clinical overlap with CHARGE syndrome

    Clinical Genetics

    Volume 75, Issue 1, January 2009, Pages: 65–71, MCJ Jongmans, CMA Van Ravenswaaij-Arts, N Pitteloud, T Ogata, N Sato, HL Claahsen-van der Grinten, K Van Der Donk, S Seminara, JEH Bergman, HG Brunner, WF Crowley Jr and LH Hoefsloot

    Article first published online : 19 NOV 2008, DOI: 10.1111/j.1399-0004.2008.01107.x

  17. Dynamic mutations as digital genetic modulators of brain development, function and dysfunction

    BioEssays

    Volume 29, Issue 6, June 2007, Pages: 525–535, Jess Nithianantharajah and Anthony J. Hannan

    Article first published online : 16 MAY 2007, DOI: 10.1002/bies.20589

  18. An Alu retrotransposition-mediated deletion of CHD7 in a patient with CHARGE syndrome

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 7, 1 April 2007, Pages: 721–726, Toru Udaka, Nobuhiko Okamoto, Michihiko Aramaki, Chiharu Torii, Rika Kosaki, Noboru Hosokai, Toshiyuki Hayakawa, Naoyuki Takahata, Takao Takahashi and Kenjiro Kosaki

    Article first published online : 2 MAR 2007, DOI: 10.1002/ajmg.a.31441

  19. Transcriptional Activity of the Tandem Repeat Polymorphism in the 5′-Flanking Region of the Human CYP2E1 Gene

    Alcoholism: Clinical and Experimental Research

    Volume 27, Issue s1, August 2003, Pages: 42S–46S, Fumio Nomura, Sakae Itoga, Takayuki Uchimoto, Takeshi Tomonaga, Masahiko Nezu, Hideaki Shimada and Takenori Ochiai

    Article first published online : 3 MAY 2006, DOI: 10.1097/01.ALC.0000078612.01626.96

  20. Tandem Repeat Polymorphism of the CYP2E1 Gene: An Association Study With Esophageal Cancer and Lung Cancer

    Alcoholism: Clinical and Experimental Research

    Volume 26, Issue s1, August 2002, Pages: 15s–19s, Sakae Itoga, Fumio Nomura, Yasuhiko Makino, Takeshi Tomonaga, Hideaki Shimada, Takenori Ochiai, Toshihiko Iizasa, Masayuki Baba, Takehiko Fujisawa and Shoji Harada

    Article first published online : 11 APR 2006, DOI: 10.1111/j.1530-0277.2002.tb02696.x