Search Results

There are 11024 results for: content related to: 19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression

  1. 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

  2. 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

  3. Isolated bladder exstrophy associated with a de novo 0.9 Mb microduplication on chromosome 19p13.12

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 97, Issue 3, March 2013, Pages: 133–139, Markus Draaken, Sadaf S. Mughal, Tracie Pennimpede, Stefanie Wolter, Lars Wittler, Anne-Karoline Ebert, Wolfgang Rösch, Raimund Stein, Enrika Bartels, Dominik Schmidt, Thomas M. Boemers, Eberhard Schmiedeke, Per Hoffmann, Susanne Moebus, Bernhard G. Herrmann, Markus M. Nöthen, Heiko Reutter and Michael Ludwig

    Version of Record online : 29 JAN 2013, DOI: 10.1002/bdra.23112

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. Apparent Germline Mosaicism for a Novel 19p13.13 Deletion Disrupting NFIX and CACNA1A

    American Journal of Medical Genetics Part A

    Volume 161, Issue 5, May 2013, Pages: 1105–1109, Manjunath Nimmakayalu, V. Kim Horton, Ben Darbro, Shivanand R. Patil, Hamza Alsayouf, Kim Keppler-Noreuil and Oleg A. Shchelochkov

    Version of Record online : 13 MAR 2013, DOI: 10.1002/ajmg.a.35790

  10. Expanding the genotype–phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis

    American Journal of Medical Genetics Part A

    Volume 161, Issue 12, December 2013, Pages: 2953–2963, Sirisha Peddibhotla, Mohamed Khalifa, Frank J. Probst, Jennifer Stein, Leslie L. Harris, Debra L. Kearney, Gail H. Vance, Marilyn J. Bull, Dorothy K. Grange, Gunter H. Scharer, Sue-Hae L. Kang, Pawel Stankiewicz, Carlos A. Bacino, Sau W. Cheung and Ankita Patel

    Version of Record online : 2 OCT 2013, DOI: 10.1002/ajmg.a.35886

  11. Microdeletion 19p13.2 in an almost 5-year-old boy

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 5, May 2012, Pages: 1190–1194, Edda Haberlandt, Ana Spreiz, Sara Baumgartner Sigl, Carolin Janetschek, Benno Röthlisberger, Sibylle Zotter, Kevin Rostasy, Johannes Zschocke and Dieter Kotzot

    Version of Record online : 9 APR 2012, DOI: 10.1002/ajmg.a.35291

  12. Pure duplication of 19p13.3

    American Journal of Medical Genetics Part A

    Volume 161, Issue 9, September 2013, Pages: 2300–2304, Aki Ishikawa, Keisuke Enomoto, Makiko Tominaga, Toshiyuki Saito, Jun-ichi Nagai, Noritaka Furuya, Kentaro Ueno, Hideaki Ueda, Mitsuo Masuno and Kenji Kurosawa

    Version of Record online : 29 JUL 2013, DOI: 10.1002/ajmg.a.36041

  13. You have full text access to this Open Access content
    Accumulation of genomic alterations in 2p16, 9q33.1 and 19p13 in lung tumours of asbestos-exposed patients

    Molecular Oncology

    Volume 7, Issue 1, February 2013, Pages: 29–40, Penny Nymark, Mervi Aavikko, Jussi Mäkilä, Salla Ruosaari, Tuija Hienonen-Kempas, Harriet Wikman, Kaisa Salmenkivi, Risto Pirinen, Antti Karjalainen, Esa Vanhala, Eeva Kuosma, Sisko Anttila, Eeva Kettunen

    Version of Record online : 7 AUG 2012, DOI: 10.1016/j.molonc.2012.07.006

  14. You have free access to this content
    The Human Obesity Gene Map: The 2005 Update

    Obesity

    Volume 14, Issue 4, April 2006, Pages: 529–644, Tuomo Rankinen, Aamir Zuberi, Yvon C. Chagnon, S. John Weisnagel, George Argyropoulos, Brandon Walts, Louis Pérusse and Claude Bouchard

    Version of Record online : 6 SEP 2012, DOI: 10.1038/oby.2006.71

  15. 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

  16. 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

  17. You have free access to this content
    Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study

    Developmental Medicine & Child Neurology

    Volume 54, Issue 7, July 2012, Pages: 618–623, RUSSELL C DALE, PADRAIC GRATTAN-SMITH, MICHELLE NICHOLSON and GREG B PETERS

    Version of Record online : 19 APR 2012, DOI: 10.1111/j.1469-8749.2012.04287.x

  18. 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

  19. 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

  20. 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