Search Results

There are 8039826 results for: content related to: Microdeletion 19p13.2 in an almost 5-year-old boy

  1. 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

  2. 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

  3. 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

  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. A new case of syndromic craniosynostosis with cryptic 19p13.2–p13.13 deletion

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 11, November 2009, Pages: 2564–2568, Philippe A. Lysy, Marie Ravoet, Sandrine Wustefeld, Pierre Bernard, Marie-Cécile Nassogne, Elisabeth Wyns and Catherine Sibille

    Version of Record online : 19 OCT 2009, DOI: 10.1002/ajmg.a.33056

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. Pontocerebellar hypoplasia in association with de novo 19p13.11p13.12 microdeletion

    American Journal of Medical Genetics Part A

    Volume 155, Issue 11, November 2011, Pages: 2871–2878, Natalie M. Gallant, Erin Baldwin, Noriko Salamon, Katrina M. Dipple and Fabiola Quintero-Rivera

    Version of Record online : 12 OCT 2011, DOI: 10.1002/ajmg.a.34286

  14. 19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression

    Clinical Genetics

    Volume 81, Issue 1, January 2012, Pages: 56–63, AM Lehman, C du Souich, D Chai, P Eydoux, JL Huang, AK Fok, L Avila, J Swingland, AD Delaney, B McGillivray, D Goldowitz, B Argiropoulos, MS Kobor and CF Boerkoel

    Version of Record online : 19 JAN 2011, DOI: 10.1111/j.1399-0004.2010.01615.x

  15. Molecular cytogenetic characterization of TCF3 (E2A)/19p13.3 rearrangements in B-cell precursor acute lymphoblastic leukemia

    Genes, Chromosomes and Cancer

    Volume 46, Issue 5, May 2007, Pages: 478–486, Kerry E. Barber, Christine J. Harrison, Zoe J. Broadfield, Adam R. M. Stewart, Sarah L. Wright, Mary Martineau, Jon C. Strefford and Anthony V. Moorman

    Version of Record online : 20 FEB 2007, DOI: 10.1002/gcc.20431

  16. 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

  17. 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

  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. 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