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There are 14670 results for: content related to: Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion

  1. Inflammatory bowel disease is linked to 19p13 and associated with ICAM-1

    Inflammatory Bowel Diseases

    Volume 10, Issue 3, May 2004, Pages: 173–181, Jin Hong Low, Fiona A. Williams, Xuesong Yang, Sue Cullen, James Colley, Khoon Lin Ling, Alessandro Armuzzi, Tariq Ahmad, Matt J. Neville, Bryan M. Dechairo, Robert Walton, Nick J. Lench and Derek P. Jewell

    Version of Record online : 14 DEC 2006, DOI: 10.1097/00054725-200405000-00001

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    PchR-box recognition by the AraC-type regulator PchR of Pseudomonas aeruginosa requires the siderophore pyochelin as an effector

    Molecular Microbiology

    Volume 58, Issue 2, October 2005, Pages: 495–509, Laurent Michel, Nicolas González, Steve Jagdeep, Tu Nguyen-Ngoc and Cornelia Reimmann

    Version of Record online : 26 AUG 2005, DOI: 10.1111/j.1365-2958.2005.04837.x

  3. Pontocerebellar hypoplasia

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

    Volume 166, Issue 2, June 2014, Pages: 173–183, Sabine Rudnik-Schöneborn, Peter G. Barth and Klaus Zerres

    Version of Record online : 12 JUN 2014, DOI: 10.1002/ajmg.c.31403

  4. Behavioral characteristics associated with 19p13.2 microdeletions

    American Journal of Medical Genetics Part A

    Volume 167, Issue 10, October 2015, Pages: 2334–2343, Alice Welham, Bursharan Barth, Joanna Moss, Jessica Penhallow, Krupa Sheth, Lucy Wilde, Sarah Wynn and Chris Oliver

    Version of Record online : 16 JUL 2015, DOI: 10.1002/ajmg.a.37180

  5. An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformation

    American Journal of Medical Genetics Part A

    Volume 167, Issue 4, April 2015, Pages: 724–730, Keiko Shimojima, Nobuhiko Okamoto, Akiko Tamasaki, Noriko Sangu, Shino Shimada and Toshiyuki Yamamoto

    Version of Record online : 3 MAR 2015, DOI: 10.1002/ajmg.a.36959

  6. Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): Is prenatal diagnosis possible?

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 9, September 2010, Pages: 2268–2276, John M. Graham Jr., Andrew H. Spencer, Inessa Grinberg, Charles E. Niesen, Lawrence D. Platt, Marcel Maya, Yasmin Namavar, Frank Baas and William B. Dobyns

    Version of Record online : 20 AUG 2010, DOI: 10.1002/ajmg.a.33579

  7. You have full text access to this OnlineOpen article
    Expanding the spectrum of rearrangements involving chromosome 19: A mild phenotype associated with a 19p13.12–p13.13 deletion

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 4, April 2012, Pages: 888–893, Giuseppe Marangi, Daniela Orteschi, Federico Vigevano, Jillian Felie, Christopher A. Walsh, M. Chiara Manzini and Giovanni Neri

    Version of Record online : 14 MAR 2012, DOI: 10.1002/ajmg.a.35254

  8. Clinical and molecular characterization of an infant with a tandem duplication and deletion of 19p13

    American Journal of Medical Genetics Part A

    Volume 167, Issue 8, August 2015, Pages: 1884–1889, Ratna N. G. B. Tan, Ruben S. G. M. Witlox, Yvonne Hilhorst-Hofstee, Cacha M. P. C. D. Peeters-Scholte, Nicolette S. den Hollander, Claudia A. L. Ruivenkamp, Mariëtte J.V. Hoffer, Kerstin B. Hansson, Mark J. van Roosmalen, Wigard P. Kloosterman and Gijs W. E. Santen

    Version of Record online : 21 APR 2015, DOI: 10.1002/ajmg.a.37076

  9. Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pter

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 1, 1 July 2005, Pages: 38–44, H.L. Archer, S. Gupta, S. Enoch, P. Thompson, A. Rowbottom, I. Chua, S. Warren, D. Johnson, D.H. Ledbetter, C. Lese-Martin, P. Williams and D.T. Pilz

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.a.30774

  10. Reverse painting of microdissected chromosome 19 markers in ovarian carcinoma identifies a complex rearrangement map

    Genes, Chromosomes and Cancer

    Volume 48, Issue 2, February 2009, Pages: 184–193, Francesca Micci, Jörg Weimer, Lisbeth Haugom, Rolf I. Skotheim, Regina Grunewald, Vera M. Abeler, Ilvar Silins, Ragnhild A. Lothe, Claes G. Trope, Norbert Arnold and Sverre Heim

    Version of Record online : 30 OCT 2008, DOI: 10.1002/gcc.20628

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    The effect of early confirmation of hearing loss on the behaviour in middle childhood of children with bilateral hearing impairment

    Developmental Medicine & Child Neurology


    Version of Record online : 1 DEC 2010, DOI: 10.1111/j.1469-8749.2010.03839.x

  12. Branchial arch defects and 19p13.12 microdeletion: Defining the critical region into a 0.8 M base interval

    American Journal of Medical Genetics Part A

    Volume 155, Issue 9, September 2011, Pages: 2212–2214, Kenjiro Kosaki, Hideyuki Saito, Rika Kosaki, Chiharu Torii, Kazuo Kishi and Takao Takahashi

    Version of Record online : 3 AUG 2011, DOI: 10.1002/ajmg.a.33908

  13. A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 3, March 2009, Pages: 396–402, Daniel R. Jensen, Donna M. Martin, Stephen Gebarski, Trilochan Sahoo, Ellen K. Brundage, A. Craig Chinault, Edgar A. Otto, Moumita Chaki, Friedhelm Hildebrandt, Sau Wai Cheung and Marci M. Lesperance

    Version of Record online : 12 FEB 2009, DOI: 10.1002/ajmg.a.32691

  14. Suppression of the tumorigenicity of prostatic cancer cells by gene(s) located on human chromosome 19p13.1-13.2

    The Prostate

    Volume 38, Issue 1, 1 January 1999, Pages: 46–54, Allen C. Gao, Wei Lou, Tomohiko Ichikawa, Samuel R. Denmeade, J. Carl Barrett and John T. Isaacs

    Version of Record online : 29 JAN 1999, DOI: 10.1002/(SICI)1097-0045(19990101)38:1<46::AID-PROS6>3.0.CO;2-9

  15. Intellectual disability and overgrowth—A new case of 19p13.13 microdeletion syndrome with digital abnormalities

    American Journal of Medical Genetics Part A

    Volume 167, Issue 11, November 2015, Pages: 2839–2843, Rita Jorge, Carmen Silva, Sofia Águeda, Sofia Dória and Miguel Leão

    Version of Record online : 4 SEP 2015, DOI: 10.1002/ajmg.a.37280

  16. High-resolution 19p13.2–13.3 allelotyping of breast carcinomas demonstrates frequent loss of heterozygosity

    Genes, Chromosomes and Cancer

    Volume 41, Issue 3, November 2004, Pages: 250–256, Tseng-Long Yang, Yen-Rey Su, Chiun-Sheng Huang, Jyh-Cherng Yu, Yen-Li Lo, Pei-Ei Wu and Chen-Yang Shen

    Version of Record online : 11 AUG 2004, DOI: 10.1002/gcc.20080

  17. Microdeletion of 19p13.3 in a girl with Peutz–Jeghers syndrome, intellectual disability, hypotonia, and distinctive features

    American Journal of Medical Genetics Part A

    Volume 167, Issue 2, February 2015, Pages: 389–393, Yukiko Kuroda, Toshiyuki Saito, Jun-Ichi Nagai, Kazumi Ida, Takuya Naruto, Mitsuo Masuno and Kenji Kurosawa

    Version of Record online : 8 DEC 2014, DOI: 10.1002/ajmg.a.36813

  18. Fine mapping of a locus for nonsyndromic mental retardation on chromosome 19p13

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 11, 1 June 2008, Pages: 1414–1422, D.K. Nolan, P. Chen, S. Das, C. Ober and D. Waggoner

    Version of Record online : 29 APR 2008, DOI: 10.1002/ajmg.a.32307

  19. Genetic mutation in pontocerebellar hypoplasia

    Clinical Genetics

    Volume 77, Issue 2, February 2010, Pages: 197–199, AJ Ajibola, SA Omar and KH Friderici

    Version of Record online : 6 OCT 2009, DOI: 10.1111/j.1399-0004.2009.01283.x

  20. Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome

    American Journal of Medical Genetics Part A

    Volume 167, Issue 7, July 2015, Pages: 1614–1620, Carmen Orellana, Mónica Roselló, Sandra Monfort, Sonia Mayo, Silvestre Oltra and Francisco Martínez

    Version of Record online : 9 APR 2015, DOI: 10.1002/ajmg.a.37046