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There are 9225 results for: content related to: Expanding the phenotype associated with 17q12 duplication: Case report and review of the literature

  1. Complex autism spectrum disorder in a patient with a 17q12 microduplication

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 5, May 2012, Pages: 1170–1177, Tracy Brandt, Khyati Desai, David Grodberg, Lakshmi Mehta, Ninette Cohen, Ana Tryfon, Alexander Kolevzon, Latha Soorya, Joseph D. Buxbaum and Lisa Edelmann

    Version of Record online : 4 APR 2012, DOI: 10.1002/ajmg.a.35267

  2. 17q12 deletion and duplication syndrome in Denmark—A clinical cohort of 38 patients and review of the literature

    American Journal of Medical Genetics Part A

    Volume 170, Issue 11, November 2016, Pages: 2934–2942, Maria Rasmussen, Else Marie Vestergaard, Jesper Graakjaer, Yanko Petkov, Iben Bache, Christina Fagerberg, Maria Kibæk, Dea Svaneby, Olav Bjørn Petersen, Charlotte Brasch-Andersen and Lone Sunde

    Version of Record online : 13 JUL 2016, DOI: 10.1002/ajmg.a.37848

  3. 17q12 Microduplications: A challenge for clinicians

    American Journal of Medical Genetics Part A

    Volume 167, Issue 3, March 2015, Pages: 674–676, V. Bertini, A. Orsini, A. Bonuccelli, F. Cambi, M. Del Pistoia, I. Vannozzi, B. Toschi, G. Saggese, P. Simi and A. Valetto

    Version of Record online : 18 FEB 2015, DOI: 10.1002/ajmg.a.36905

  4. 17q12 microdeletion syndrome: Three patients illustrating the phenotypic spectrum

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 9, September 2012, Pages: 2317–2321, Abhijit Dixit, Chirag Patel, Rachel Harrison, Joanna Jarvis, Sally Hulton, Nigel Smith, Katherine Yates, Lee Silcock, Dominic J. McMullan and Mohnish Suri

    Version of Record online : 6 AUG 2012, DOI: 10.1002/ajmg.a.35520

  5. Should we offer prenatal testing for 17q12 microdeletion syndrome to all cases with prenatally diagnosed echogenic kidneys? Prenatal findings in two families with 17q12 microdeletion syndrome and review of the literature

    Prenatal Diagnosis

    Volume 35, Issue 13, December 2015, Pages: 1336–1341, Gabriela E. Jones, Hatem A. Mousa, Helen Rowley, Peter Houtman and Pradeep C. Vasudevan

    Version of Record online : 9 NOV 2015, DOI: 10.1002/pd.4701

  6. Detailed gene copy number and RNA expression analysis of the 17q12–23 region in primary breast cancers

    Genes, Chromosomes and Cancer

    Volume 36, Issue 4, April 2003, Pages: 382–392, Simon Willis, Anne-Marie Hutchins, Fleur Hammet, John Ciciulla, Wee-Kheng Soo, David White, Peter van der Spek, Michael A. Henderson, Kurt Gish, Deon J. Venter and Jane E. Armes

    Version of Record online : 30 JAN 2003, DOI: 10.1002/gcc.10138

  7. Prenatal diagnosis of 17q12 deletion syndrome: from fetal hyperechogenic kidneys to high risk for autism

    Prenatal Diagnosis

    Volume 36, Issue 11, November 2016, Pages: 1027–1032, Yinon Gilboa, Sharon Perlman, Naomi Pode-Shakked, Ben Pode-Shakked, Alon Shrim, Einat Azaria-Lahav, Benjamin Dekel, Hagith Yonath, Michal Berkenstadt and Reuven Achiron

    Version of Record online : 25 OCT 2016, DOI: 10.1002/pd.4926

  8. Association between sequence variants at 17q12 and 17q24.3 and prostate cancer risk in European and African Americans

    The Prostate

    Volume 68, Issue 7, 15 May 2008, Pages: 691–697, Jielin Sun, Lina Purcell, Zhengrong Gao, Sarah D. Isaacs, Kathleen E. Wiley, Fang-Chi Hsu, Wennuan Liu, David Duggan, John D. Carpten, Henrik Grönberg, Jianfeng Xu, Bao-Li Chang, Alan W. Partin, Patrick C. Walsh, William B. Isaacs and S. Lilly Zheng

    Version of Record online : 24 MAR 2008, DOI: 10.1002/pros.20754

  9. You have free access to this content
    Integrated gene copy number and expression microarray analysis of gastric cancer highlights potential target genes

    International Journal of Cancer

    Volume 123, Issue 4, 15 August 2008, Pages: 817–825, Samuel Myllykangas, Siina Junnila, Arto Kokkola, Reija Autio, Ilari Scheinin, Tuula Kiviluoto, Marja-Liisa Karjalainen-Lindsberg, Jaakko Hollmén, Sakari Knuutila, Pauli Puolakkainen and Outi Monni

    Version of Record online : 27 MAY 2008, DOI: 10.1002/ijc.23574

  10. Interaction between 25-hydroxyvitamin D and variants at 17q12-21 on respiratory infections

    Pediatric Pulmonology

    Volume 51, Issue 9, September 2016, Pages: 958–967, Youn Ho Sheen, Eun Lee, Mi-Jin Kang, Ho-Sung Yu, Kangmo Ahn, Kyung Won Kim, Song-I Yang, Young-Ho Jung, Kyung-Ju Lee, Hyoung Yoon Chang, Hye Lim Shin, Kil Yong Choi, Hyung Young Kim, Ju-Hee Seo, Ji-Won Kwon, Byoung-Ju Kim, Hyo-Bin Kim, So-Yeon Lee, Dong In Suh, Hyeon-Jong Yang, Suk-Joo Choi, Soo-Young Oh, Ja-Young Kwon, Soo Hyun Kim, Hye-Sung Won, Eun-Jin Kim, Jeom Kyu Lee and Soo-Jong Hong

    Version of Record online : 25 APR 2016, DOI: 10.1002/ppul.23421

  11. Duodenal atresia in 17q12 microdeletion including HNF1B: A new associated malformation in this syndrome

    American Journal of Medical Genetics Part A

    Volume 164, Issue 12, December 2014, Pages: 3076–3082, Fabiola Quintero-Rivera, Jennifer S. Woo, Eric M. Bomberg, W. Dean Wallace, Jane Peredo and Katrina M. Dipple

    Version of Record online : 24 SEP 2014, DOI: 10.1002/ajmg.a.36767

  12. Concomitant gastrin and ERBB2 gene amplifications at 17q12–q21 in the intestinal type of gastric cancer

    Genes, Chromosomes and Cancer

    Volume 24, Issue 1, January 1999, Pages: 24–29, Virve Vidgren, Asta Varis, Arto Kokkola, Outi Monni, Pauli Puolakkainen, Stig Nordling, Farahnaz Forozan, Anne Kallioniemi, Marja-Leena Vakkari, Eero Kivilaakso and Sakari Knuutila

    Version of Record online : 6 JAN 1999, DOI: 10.1002/(SICI)1098-2264(199901)24:1<24::AID-GCC4>3.0.CO;2-H

  13. Fetal phenotype of 17q12 microdeletion syndrome: renal echogenicity and congenital diaphragmatic hernia in 2 cases

    Prenatal Diagnosis

    Volume 35, Issue 12, December 2015, Pages: 1265–1267, Patrick Yap, George McGillivray, Fiona Norris, Joanne M. Said, Louise Kornman and Zornitza Stark

    Version of Record online : 14 OCT 2015, DOI: 10.1002/pd.4690

  14. Genomic and clinical characteristics of microduplications in chromosome 17

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 5, May 2010, Pages: 1101–1110, Oleg A. Shchelochkov, S.W. Cheung and J.R. Lupski

    Version of Record online : 7 APR 2010, DOI: 10.1002/ajmg.a.33248

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    Does diabetes mellitus modify the association between 17q12 risk variant and prostate cancer aggressiveness?

    BJU International

    Volume 104, Issue 9, November 2009, Pages: 1200–1203, Stacy Loeb, Brian T. Helfand, Donghui Kan, William B. Isaacs and William J. Catalona

    Version of Record online : 20 JUL 2009, DOI: 10.1111/j.1464-410X.2009.08656.x

  16. Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome

    American Journal of Medical Genetics Part A

    Volume 167, Issue 1, January 2015, Pages: 250–253, Carole Goumy, Fanny Laffargue, Eléonore Eymard-Pierre, Stéphen Kemeny, Mathilde Gay-Bellile, Laetiti Gouas, Denis Gallot, Christine Francannet, Andrei Tchirkov, Céline Pebrel-Richard and Philippe Vago

    Version of Record online : 25 NOV 2014, DOI: 10.1002/ajmg.a.36840

  17. Replicated association of 17q12-21 with susceptibility of primary biliary cirrhosis in a Japanese cohort

    Tissue Antigens

    Volume 78, Issue 1, July 2011, Pages: 65–68, A. Tanaka, P. Invernizzi, H. Ohira, K. Kikuchi, S. Nezu, R. Kosoy, M. F. Seldin, M. E. Gershwin and H. Takikawa

    Version of Record online : 21 APR 2011, DOI: 10.1111/j.1399-0039.2011.01684.x

  18. Recurrent duplications of 17q12 associated with variable phenotypes

    American Journal of Medical Genetics Part A

    Volume 167, Issue 12, December 2015, Pages: 3038–3045, Elyse Mitchell, Andrew Douglas, Susanne Kjaegaard, Bert Callewaert, Arnaud Vanlander, Sandra Janssens, Amy Lawson Yuen, Cindy Skinner, Pinella Failla, Antonino Alberti, Emanuela Avola, Marco Fichera, Maria Kibaek, Maria C. Digilio, Mark C. Hannibal, Nicolette S. den Hollander, Veronica Bizzarri, Alessandra Renieri, Maria Antonietta Mencarelli, Tomas Fitzgerald, Serena Piazzolla, Elke van Oudenhove, Corrado Romano, Charles Schwartz, Evan E. Eichler, Anne Slavotinek, Luis Escobar, Diana Rajan, John Crolla, Nigel Carter, Jennelle C. Hodge and Heather C. Mefford

    Version of Record online : 30 SEP 2015, DOI: 10.1002/ajmg.a.37351

  19. RNA interference-based functional dissection of the 17q12 amplicon in breast cancer reveals contribution of coamplified genes

    Genes, Chromosomes and Cancer

    Volume 45, Issue 8, August 2006, Pages: 761–769, Jessica Kao and Jonathan R. Pollack

    Version of Record online : 17 MAY 2006, DOI: 10.1002/gcc.20339

  20. You have full text access to this Open Access content
    Assessment of Association between Common Variants at 17q12 and Prostate Cancer Risk—Evidence from Serbian Population and Meta-Analysis

    Clinical and Translational Science

    Volume 7, Issue 4, August 2014, Pages: 307–313, Zorana Z. Nikolić, Ana S. Branković, Dušanka L.J. Savić-Pavićević, Stefan M. Preković, Vinka D. Vukotić, Snežana J. Cerović, Nataša N. Filipović, Saša M. Tomović, Stanka P. Romac and Goran N. Brajušković

    Version of Record online : 14 JAN 2014, DOI: 10.1111/cts.12130