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There are 1810030 results for: content related to: Congenital diaphragmatic hernia in Smith–Magenis syndrome: A possible locus at chromosome 17p11.2

  1. The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 7, 1 April 2008, Pages: 917–924, Martine Doco-Fenzy, Muriel Holder-Espinasse, Eric Bieth, Corinne Magdelaine, Marie-Claire Vincent, Maroun Khoury, Joris Andrieux, Feng Zhang, James R. Lupski, Rabih Klink, Anouck Schneider, Odile Goze-Martineau, Jean-Marie Cuisset, Louis Vallee, Sylvie Manouvrier-Hanu, Dominique Gaillard and Bérengère de Martinville

    Version of Record online : 7 MAR 2008, DOI: 10.1002/ajmg.a.32195

  2. Jumping translocations, a novel finding in chronic lymphocytic leukaemia

    British Journal of Haematology

    Volume 170, Issue 2, July 2015, Pages: 200–207, Cecelia R. Miller, Deborah Stephens, Amy S. Ruppert, Frederick Racke, Andrew McFaddin, Heather Breidenbach, Huey-Jen Lin, Kathy Waller, Tammy Bannerman, Jeffrey A. Jones, Jennifer A. Woyach, Leslie A. Andritsos, Kami Maddocks, Weiqiang Zhao, Gerard Lozanski, Joseph M. Flynn, Michael Grever, John C. Byrd and Nyla A. Heerema

    Version of Record online : 19 APR 2015, DOI: 10.1111/bjh.13422

  3. Rapid detection of 17p11.2 rearrangements by FISH without cell culture (direct FISH, DFISH): A prospective study of 130 patients with inherited peripheral neuropathies

    American Journal of Medical Genetics Part A

    Volume 118A, Issue 1, 1 April 2003, Pages: 43–48, Nicole Ravisé, Odile Dubourg, Sandrine Tardieu, Françoise Aurias, Monique Mercadiel, Philippe Coullin, Merle Ruberg, Martin Catala, Sylvie Lesourd, Alexis Brice and Eric LeGuern

    Version of Record online : 17 JAN 2003, DOI: 10.1002/ajmg.a.10190

  4. Neuropathic scapuloperoneal syndrome (Davidenkow's syndrome) with chromosome 17p11.2 deletion

    Muscle & Nerve

    Volume 32, Issue 5, November 2005, Pages: 668–671, Ashok Verma

    Version of Record online : 8 JUL 2005, DOI: 10.1002/mus.20402

  5. Mild phenotype due to tandem duplication of l7p11.2

    American Journal of Medical Genetics

    Volume 94, Issue 4, 2 October 2000, Pages: 296–299, Michael C. Schneider, Christopher R. Hughes, Shawnia Forrester and Virginia Kimonis

    Version of Record online : 13 OCT 2000, DOI: 10.1002/1096-8628(20001002)94:4<296::AID-AJMG6>3.0.CO;2-B

  6. Smith–Magenis syndrome and moyamoya disease in a patient with del(17)(p11.2p13.1)

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 9, 1 May 2007, Pages: 999–1008, Santhosh Girirajan, Roberto Mendoza-Londono, Christopher N. Vlangos, Lucie Dupuis, Norma J. Nowak, David J. Bunyan, Eli Hatchwell and Sarah H. Elsea

    Version of Record online : 12 APR 2007, DOI: 10.1002/ajmg.a.31689

  7. The brain finger protein gene (ZNF179), a member of the RING finger family, maps within the Smith-Magenis syndrome region at 17p11.2

    American Journal of Medical Genetics

    Volume 69, Issue 3, 31 March 1997, Pages: 320–324, Toshiyuki Kimura, Yoshiki Arakawa, Satoshi Inoue, Yoshimitsu Fukushima, Ikuko Kondo, Kumiko Koyama, Takayuki Hosoi, Akira Orimo, Masami Muramatsu, Yusuke Nakamura, Tatsuo Abe and Johji Inazawa

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19970331)69:3<320::AID-AJMG19>3.0.CO;2-T

  8. Recurrent polyradiculoneuropathy with the 17p11.2 deletion

    Muscle & Nerve

    Volume 20, Issue 9, September 1997, Pages: 1184–1186, Nadine Le Forestier, Eric LeGuern, Philippe Coullin, Nazha Birouk, Thierry Maisonobe, Alexis Brice, Jean Marc Léger and Pierre Bouche

    Version of Record online : 7 DEC 1998, DOI: 10.1002/(SICI)1097-4598(199709)20:9<1184::AID-MUS16>3.0.CO;2-T

  9. Molecular and transcriptional characterization of the novel 17p11.2-p12 amplicon in multiple myeloma

    Genes, Chromosomes and Cancer

    Volume 46, Issue 12, December 2007, Pages: 1109–1118, Sonia Fabris, Katia Todoerti, Laura Mosca, Luca Agnelli, Daniela Intini, Marta Lionetti, Silvana Guerneri, Giorgio Lambertenghi-Deliliers, Francesco Bertoni and Antonino Neri

    Version of Record online : 6 SEP 2007, DOI: 10.1002/gcc.20494

  10. Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith–Magenis syndrome should contain the RAI1 gene

    American Journal of Medical Genetics Part A

    Volume 132A, Issue 3, 30 January 2005, Pages: 278–282, Christopher N. Vlangos, Meredith Wilson, Jan Blancato, Ann C.M. Smith and Sarah H. Elsea

    Version of Record online : 7 DEC 2004, DOI: 10.1002/ajmg.a.30461

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    The Fibromyalgia Family Study: A Genome-Wide Linkage Scan Study

    Arthritis & Rheumatism

    Volume 65, Issue 4, April 2013, Pages: 1122–1128, Lesley M. Arnold, Jinbo Fan, I. Jon Russell, Muhammad B. Yunus, Muhammad Asim Khan, Irving Kushner, Jane M. Olson and Sudha K. Iyengar

    Version of Record online : 28 MAR 2013, DOI: 10.1002/art.37842

  12. Smith–Magenis Syndrome

    Standard Article

    eLS

    Sarah H Elsea and Brenda Finucane

    Published Online : 15 MAR 2009, DOI: 10.1002/9780470015902.a0021428

  13. Smith-Magenis syndrome deletion: A case with equivocal cytogenetic findings resolved by fluorescence in situ hybridization

    American Journal of Medical Genetics

    Volume 58, Issue 3, 11 September 1995, Pages: 286–291, Ramesh C. Juyal, Frank Greenberg, Gregory A. Mengden, James R. Lupski, Barbara J. Trask, Ger van den Engh, Elizabeth A. Lindsay, Heather Christy, Ken-Shiung Chen, Antonio Baldini, Lisa G. Shaffer and Pragna I. Patel

    Version of Record online : 16 MAY 2005, DOI: 10.1002/ajmg.1320580317

  14. Mosaicism for deletion 17p11.2 in a boy with the Smith-Magenis syndrome

    American Journal of Medical Genetics

    Volume 45, Issue 4, 15 February 1993, Pages: 447–449, Brenda M. Finucane, Michael B. Kurtz, V. Ramesh Babu and Charles I. Scott Jr.

    Version of Record online : 7 JUN 2005, DOI: 10.1002/ajmg.1320450410

  15. Two patients with duplication of 17p11.2: The reciprocal of the Smith-Magenis syndrome deletion?

    American Journal of Medical Genetics

    Volume 63, Issue 2, 17 May 1996, Pages: 373–377, Angela Brown, Mary C. Phelan, Shivanand Patil, Eric Crawford, R. Curtis Rogers and Charles Schwartz

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19960517)63:2<373::AID-AJMG9>3.0.CO;2-U

  16. Trisomy 17p10-p12 due to mosaic supernumerary marker chromosome: Delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications

    American Journal of Medical Genetics Part A

    Volume 138A, Issue 2, 1 October 2005, Pages: 175–180, Svetlana A. Yatsenko, Diane Treadwell-Deering, Kevin Krull, Richard Alan Lewis, Daniel Glaze, Pawel Stankiewicz, James R. Lupski and Lorraine Potocki

    Version of Record online : 8 SEP 2005, DOI: 10.1002/ajmg.a.30948

  17. Behavioral phenotype of smith-magenis syndrome (del 17p11.2)

    American Journal of Medical Genetics

    Volume 81, Issue 2, 28 March 1998, Pages: 179–185, Ann C.M. Smith, Elizabeth Dykens and Frank Greenberg

    Version of Record online : 6 DEC 1998, DOI: 10.1002/(SICI)1096-8628(19980328)81:2<179::AID-AJMG10>3.0.CO;2-E

  18. Search for genes involved in Joubert syndrome: Evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1

    American Journal of Medical Genetics

    Volume 107, Issue 3, 22 January 2002, Pages: 190–196, Ian P. Blair, Roxanne R. Gibson, Craig L. Bennett and Phillip F. Chance

    Version of Record online : 4 DEC 2001, DOI: 10.1002/ajmg.10145

  19. Frequent amplification and rearrangement of chromosomal bands 6p12-p21 and 17p11.2 in osteosarcoma

    Genes, Chromosomes and Cancer

    Volume 39, Issue 1, January 2004, Pages: 11–21, Ching C. Lau, Charles P. Harris, Xin-Yan Lu, Laszlo Perlaky, Sheila Gogineni, Murali Chintagumpala, John Hicks, Mark E. Johnson, Nelson A. Davino, Andrew G. Huvos, Paul A. Meyers, John H. Healy, Richard Gorlick and Pulivarthi H. Rao

    Version of Record online : 24 SEP 2003, DOI: 10.1002/gcc.10291

  20. You have free access to this content
    Frequency of chromosome 17 polysomy in relation to CEP17 copy number in a large breast cancer cohort

    Genes, Chromosomes and Cancer

    Volume 55, Issue 5, May 2016, Pages: 409–417, Vladimira Koudelakova, Radek Trojanec, Jana Vrbkova, Sandra Donevska, Katerina Bouchalova, Zdenek Kolar, Lakshman Varanasi and Marian Hajduch

    Version of Record online : 5 FEB 2016, DOI: 10.1002/gcc.22337