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There are 10752 results for: content related to: STK11 / LKB1 germline mutations are not identified in most Peutz–Jeghers syndrome patients

  1. STK11 Domain XI Mutations: Candidate Genetic Drivers Leading to the Development of Dysplastic Polyps in Peutz–Jeghers Syndrome

    Human Mutation

    Volume 35, Issue 7, July 2014, Pages: 851–858, Zhiqing Wang, Baoping Wu, Rebecca A. Mosig, Yulan Chen, Fei Ye, Yali Zhang, Wei Gong, Lanbo Gong, Fei Huang, Xinying Wang, Biao Nie, Haoxuan Zheng, Miao Cui, Yadong Wang, Juan Wang, Chudi Chen, Alexandros D. Polydorides, David Y. Zhang, John A. Martignetti and Bo Jiang

    Version of Record online : 3 JUN 2014, DOI: 10.1002/humu.22549

  2. Large deletions and splicing-site mutations in the STK11 gene in Peutz-Jeghers Chilean families

    Clinical Genetics

    Volume 83, Issue 4, April 2013, Pages: 365–369, P Orellana, F López-Köstner, C Heine, C Suazo, E Pinto, J Church, P Carvallo and K Alvarez

    Version of Record online : 7 AUG 2012, DOI: 10.1111/j.1399-0004.2012.01928.x

  3. Mutation screening at the RNA level of the STK11/LKB1 gene in Peutz-Jeghers syndrome reveals complex splicing abnormalities and a novel mRNA isoform (STK11 c.597598insIVS4)

    Human Mutation

    Volume 18, Issue 5, November 2001, Pages: 397–410, Abdalla A. Abed, Klaus Günther, Cornelia Kraus, Werner Hohenberger and Wolfgang G. Ballhausen

    Version of Record online : 9 OCT 2001, DOI: 10.1002/humu.1211

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    Mutations in the human LKB1/STK11 gene

    Human Mutation

    Volume 26, Issue 4, October 2005, Pages: 291–297, Virpi Launonen

    Version of Record online : 18 AUG 2005, DOI: 10.1002/humu.20222

  5. Genetic defects underlying Peutz–Jeghers syndrome (PJS) and exclusion of the polarity-associated MARK/Par1 gene family as potential PJS candidates

    Clinical Genetics

    Volume 72, Issue 6, December 2007, Pages: 568–573, WWJ de Leng, M Jansen, R Carvalho, M Polak, AR Musler, ANA Milne, JJ Keller, FH Menko, FWM de Rooij, CA Iacobuzio-Donahue, FM Giardiello, MAJ Weterman and GJA Offerhaus

    Version of Record online : 9 OCT 2007, DOI: 10.1111/j.1399-0004.2007.00907.x

  6. Genetic heterogeneity in Peutz-Jeghers syndrome

    Human Mutation

    Volume 16, Issue 1, July 2000, Pages: 23–30, Lisa A. Boardman, Fergus J. Couch, Lawrence J. Burgart, David Schwartz, Rebecca Berry, Shannon K. McDonnell, Daniel J. Schaid, Lynn C. Hartmann, Jennifer J. Schroeder, Constantine A. Stratakis and Stephen N. Thibodeau

    Version of Record online : 23 JUN 2000, DOI: 10.1002/1098-1004(200007)16:1<23::AID-HUMU5>3.0.CO;2-M

  7. Quality of life and psychological distress in patients with Peutz–Jeghers syndrome

    Clinical Genetics

    Volume 78, Issue 3, September 2010, Pages: 219–226, MGF Van Lier, EMH Mathus-Vliegen, ME Van Leerdam, EJ Kuipers, CWN Looman, A Wagner and K Vanheusden

    Version of Record online : 3 AUG 2010, DOI: 10.1111/j.1399-0004.2010.01469.x

  8. Allelic imbalance at the LKB1 (STK11) locus in tumours from patients with Peutz-Jeghers' syndrome provides evidence for a hamartoma–(adenoma)–carcinoma sequence

    The Journal of Pathology

    Volume 188, Issue 1, May 1999, Pages: 9–13, Zhen-Jun Wang, Ian Ellis, Peter Zauber, Takeo Iwama, Cristiana Marchese, Ian Talbot, Wen-Huai Xue, Zhong-Yue Yan and Ian Tomlinson

    Version of Record online : 6 DEC 1999, DOI: 10.1002/(SICI)1096-9896(199905)188:1<9::AID-PATH326>3.0.CO;2-E

  9. Haploinsufficiency of STK11 and neighboring genes cause a contiguous gene syndrome including Peutz–Jeghers phenotype

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 11, November 2012, Pages: 2959–2962, Sarah Scollon, Kirsty McWalter, Keith Abe, Jeremy King, Kevin Kimata and Thomas P. Slavin

    Version of Record online : 14 SEP 2012, DOI: 10.1002/ajmg.a.35629

  10. Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families

    Human Mutation

    Volume 13, Issue 6, 1999, Pages: 476–481, Anne Marie Westerman, Mark M. Entius, Patrick P.C. Boor, Rita Koole, Ellen de Baar, G. Johan A. Offerhaus, Jan Lubinski, Dick Lindhout, Dicky J.J. Halley, Felix W.M. de Rooij and J.H. Paul Wilson

    Version of Record online : 16 JUN 1999, DOI: 10.1002/(SICI)1098-1004(1999)13:6<476::AID-HUMU7>3.0.CO;2-2

  11. Successful pregnancy in a Peutz–Jeghers syndrome patient with lobular endocervical glandular hyperplasia

    Journal of Obstetrics and Gynaecology Research

    Volume 41, Issue 3, March 2015, Pages: 468–473, Yuji Takei, Hiroyuki Fujiwara, Tomomi Nagashima, Yoshifumi Takahashi, Suzuyo Takahashi and Mitsuaki Suzuki

    Version of Record online : 26 SEP 2014, DOI: 10.1111/jog.12541

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    Functional analysis of LKB1/STK11 mutants and two aberrant isoforms found in Peutz-Jeghers Syndrome patients

    Human Mutation

    Volume 21, Issue 2, February 2003, Page: 172, J. Boudeau, A. Kieloch, D.R. Alessi, A. Stella, G. Guanti and N. Resta

    Version of Record online : 27 JAN 2003, DOI: 10.1002/humu.9112

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    Peutz-Jeghers syndrome: Four novel inactivating germline mutations in the STK11 gene

    Human Mutation

    Volume 13, Issue 3, 1999, Pages: 257–258, Roland Kruse, Siegfried Uhlhaas, Christof Lamberti, Klaus M. Keller, Christian Jackisch, Johannes Steinhard, Gisela Knöpfle, Steffan Loff, Walter Back, Manfred Stolte, Matthias Jungck, Peter Propping, Waltraut Friedl and Dieter E. Jenne

    Version of Record online : 6 APR 1999, DOI: 10.1002/(SICI)1098-1004(1999)13:3<257::AID-HUMU15>3.0.CO;2-A

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    Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patients

    Human Mutation

    Volume 20, Issue 1, July 2002, Pages: 78–79, N. Resta, A. Stella, F.C. Susca, M. Di Giacomo, G. Forleo, I. Miccolis, F.P. Rossini, M. Genuardi, A. Piepoli, P. Grammatico and G. Guanti

    Version of Record online : 27 JUN 2002, DOI: 10.1002/humu.9046

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    Mutational Analysis of STK11 h Gene in Ovarian Carcinomas

    Japanese Journal of Cancer Research

    Volume 90, Issue 6, June 1999, Pages: 629–632, Yoshihiro Nishioka, Kanji Kobayashi, Satoru Sagae, Masaki Sugimura, Shinichi Ishioka, Masami Nagata, Katuhiko Terasawa, Takashi Tokino and Ryuichi Kudo

    Version of Record online : 23 AUG 2005, DOI: 10.1111/j.1349-7006.1999.tb00793.x

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    LKB1 loss of function studied in vivo

    FEBS Letters

    Volume 585, Issue 7, April 06, 2011, Pages: 958–966, Boris Y. Shorning and Alan R. Clarke

    Version of Record online : 15 JAN 2011, DOI: 10.1016/j.febslet.2011.01.019

  17. Elevation of WNT5A expression in polyp formation in Lkb1+/− mice and Peutz–Jeghers syndrome

    The Journal of Pathology

    Volume 223, Issue 5, April 2011, Pages: 584–592, Cecilia Lai, James Robinson, Sue Clark, Gordon Stamp, Richard Poulsom and Andrew Silver

    Version of Record online : 21 FEB 2011, DOI: 10.1002/path.2835

  18. Gastrointestinal polyposis syndromes

    American Journal of Medical Genetics Part A

    Volume 122A, Issue 4, 1 November 2003, Pages: 335–341, Mary P. Bronner

    Version of Record online : 2 SEP 2003, DOI: 10.1002/ajmg.a.20476

  19. Gütegeschaltete Nd:YAG-Laserbehandlung labialer Lentigines bei Peutz-Jeghers-Syndrom

    JDDG: Journal der Deutschen Dermatologischen Gesellschaft

    Volume 13, Issue 6, June 2015, Pages: 551–556, Yiping Ge, Gaorong Jia and Tong Lin

    Version of Record online : 27 MAY 2015, DOI: 10.1111/ddg.12627_suppl

  20. Q-switched Nd:YAG laser treatment for labial lentigines associated with Peutz-Jeghers syndrome

    JDDG: Journal der Deutschen Dermatologischen Gesellschaft

    Volume 13, Issue 6, June 2015, Pages: 551–555, Yiping Ge, Gaorong Jia and Tong Lin

    Version of Record online : 27 MAY 2015, DOI: 10.1111/ddg.12627