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There are 7366 results for: content related to: Molecular cytogenetic characterization and genotype/phenotype analysis in a patient with a de novo 8p23.2p23.3 deletion/12p13.31p13.33 duplication

  1. Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance

    American Journal of Medical Genetics Part A

    Volume 167, Issue 9, September 2015, Pages: 2052–2064, John C. K. Barber, Jill A. Rosenfeld, John M. Graham, Nancy Kramer, Katherine L. Lachlan, Mark S. Bateman, Morag N. Collinson, Barbro Fossøy Stadheim, Claire L. S. Turner, Jacqueline N. Gauthier, Tyler E. Reimschisel, Athar M. Qureshi, Tabib A. Dabir, Mervyn W. Humphreys, Michael Marble, Taosheng Huang, Sarah J. Beal, Joanne Massiah, Emma-Jane Taylor and Sarah L. Wynn

    Version of Record online : 11 JUN 2015, DOI: 10.1002/ajmg.a.37120

  2. 8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients

    American Journal of Medical Genetics Part A

    Volume 161, Issue 3, March 2013, Pages: 487–500, John C.K. Barber, Jill A. Rosenfeld, Nicola Foulds, Sophie Laird, Mark S. Bateman, N. Simon Thomas, Samantha Baker, Viv K. Maloney, Arayamparambil Anilkumar, Wendy E. Smith, Valerie Banks, Sara Ellingwood, Yara Kharbutli, Lakshmi Mehta, Keith A. Eddleman, Michael Marble, Regina Zambrano, John A. Crolla and Allen N. Lamb

    Version of Record online : 23 JAN 2013, DOI: 10.1002/ajmg.a.35767

  3. 8p23.1 duplication detected by array-CGH with complete atrioventricular septal defect and unilateral hand preaxial hexadactyly

    American Journal of Medical Genetics Part A

    Volume 161, Issue 3, March 2013, Pages: 561–565, Yanliang Zhang, Ya Li, Yuming Wang, Bin Shan and Yong Duan

    Version of Record online : 12 FEB 2013, DOI: 10.1002/ajmg.a.35596

  4. Duplication of 8p23.2: A benign cytogenetic variant?

    American Journal of Medical Genetics

    Volume 111, Issue 3, 15 August 2002, Pages: 285–288, Naoki Harada, Jun Takano, Tatsuro Kondoh, Hirofumi Ohashi, Tomonobu Hasegawa, Hirobumi Sugawara, Tomoko Ida, Ko-ichiro Yoshiura, Tohru Ohta, Tatsuya Kishino, Tadashi Kajii, Norio Niikawa and Naomichi Matsumoto

    Version of Record online : 13 JUN 2002, DOI: 10.1002/ajmg.10584

  5. Two patients with atypical interstitial deletions of 8p23.1: Mapping of phenotypical traits

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 9, 1 May 2008, Pages: 1158–1165, Marco T. Páez, Toshiyuki Yamamoto, Ken-ichi Hayashi, Toshiyuki Yasuda, Naoki Harada, Naomichi Matsumoto, Kenji Kurosawa, Yoshiyuki Furutani, Shuichi Asakawa, Nobuyoshi Shimizu and Rumiko Matsuoka

    Version of Record online : 4 APR 2008, DOI: 10.1002/ajmg.a.32205

  6. Triplication of 8p22–8p23 in a patient with features similar to Kabuki syndrome

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 2, 15 January 2006, Pages: 170–173, Joseph T.C. Shieh, Louanne Hudgins, Athena M. Cherry, Zhezhong Shen and H. Eugene Hoyme

    Version of Record online : 13 DEC 2005, DOI: 10.1002/ajmg.a.31036

  7. Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 8, August 2009, Pages: 1661–1677, Margaret J. Wat, Oleg A. Shchelochkov, Ashley M. Holder, Amy M. Breman, Aditi Dagli, Carlos Bacino, Fernando Scaglia, Roberto T. Zori, Sau Wai Cheung, Daryl A. Scott and Sung-Hae Lee Kang

    Version of Record online : 15 JUL 2009, DOI: 10.1002/ajmg.a.32896

  8. Allelotyping analysis at chromosome arm 8p of high-grade prostatic intraepithelial neoplasia and incidental, latent, and clinical prostate cancers

    Genes, Chromosomes and Cancer

    Volume 45, Issue 5, May 2006, Pages: 509–515, Wei Lu, Hiroyuki Takahashi, Bungo Furusato, Suguru Maekawa, Masahiro Ikegami, Akemi Sudo, Shin Egawa and Hiroshi Hano

    Version of Record online : 8 FEB 2006, DOI: 10.1002/gcc.20314

  9. Duplication of chromosome region 8p23.1 [RIGHTWARDS ARROW] p23.3: A benign variant?

    American Journal of Medical Genetics

    Volume 91, Issue 1, 6 March 2000, Pages: 18–21, J.J.M. Engelen, U. Moog, J.L.H. Evers, H. Dassen, J.C.M. Albrechts and A.J.H. Hamers

    Version of Record online : 17 MAR 2000, DOI: 10.1002/(SICI)1096-8628(20000306)91:1<18::AID-AJMG3>3.0.CO;2-3

  10. Maternal transmission of interstitial 8p23.1 deletion detected during prenatal diagnosis

    American Journal of Medical Genetics Part A

    Volume 161, Issue 1, January 2013, Pages: 208–213, F. Guimiot, C. Dupont, A. Fuentes-Duarte, A. Aboura, A. Bazin, S. Khung-Savatovsky, I. Tillous-Borde, A.-L. Delezoide and A. Azancot

    Version of Record online : 14 DEC 2012, DOI: 10.1002/ajmg.a.35690

  11. Identification of minimal regions of deletion at 8p23.1-22 associated with metastasis of hepatocellular carcinoma

    Liver International

    Volume 27, Issue 6, August 2007, Pages: 782–790, Tomoe Lu and Hiroshi Hano

    Version of Record online : 5 JUN 2007, DOI: 10.1111/j.1478-3231.2007.01504.x

  12. Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 12, December 2012, Pages: 3148–3158, Mauro Longoni, Kasper Lage, Meaghan K. Russell, Maria Loscertales, Omar A. Abdul-Rahman, Gareth Baynam, Steven B. Bleyl, Paul D. Brady, Jeroen Breckpot, Chih P. Chen, Koenraad Devriendt, Gabriele Gillessen-Kaesbach, Arthur W. Grix, Alan F. Rope, Osamu Shimokawa, Bernarda Strauss, Dagmar Wieczorek, Elaine H. Zackai, Caroline M. Coletti, Faouzi I. Maalouf, Kristin M. Noonan, Ji H. Park, Adam A. Tracy, Charles Lee, Patricia K. Donahoe and Barbara R. Pober

    Version of Record online : 19 NOV 2012, DOI: 10.1002/ajmg.a.35665

  13. Deletion of 8p23.1 with features of Cornelia de Lange syndrome and congenital diaphragmatic hernia and a review of deletions of 8p23.1 to 8pter ? A further locus for Cornelia de Lange syndrome

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 12, 15 June 2008, Pages: 1565–1570, Gareth Baynam, Jack Goldblatt and Ian Walpole

    Version of Record online : 9 MAY 2008, DOI: 10.1002/ajmg.a.32095

  14. Unmasking Kabuki syndrome: chromosome 8p22–8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH

    Clinical Genetics

    Volume 64, Issue 6, December 2003, Pages: 509–516, JM Milunsky and XL Huang

    Version of Record online : 18 NOV 2003, DOI: 10.1046/j.1399-0004.2003.00189.x

  15. Molecular characterization of inv dup del(8p): Analysis of five cases

    American Journal of Medical Genetics Part A

    Volume 128A, Issue 2, 15 July 2004, Pages: 133–137, Osamu Shimokawa, Kenji Kurosawa, Tomoko Ida, Naoki Harada, Tatsuro Kondoh, Noriko Miyake, Kohichiro Yoshiura, Tatsuya Kishino, Tohru Ohta, Norio Niikawa and Naomichi Matsumoto

    Version of Record online : 22 APR 2004, DOI: 10.1002/ajmg.a.30063

  16. Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia

    American Journal of Medical Genetics Part A

    Volume 136A, Issue 1, 1 July 2005, Pages: 49–51, Osamu Shimokawa, Noriko Miyake, Takazumi Yoshimura, Nadiya Sosonkina, Naoki Harada, Takeshi Mizuguchi, Shinji Kondoh, Tatsuya Kishino, Tohru Ohta, Visser Remco, Takeshi Takashima, Akira Kinoshita, Koichiro Yoshiura, Norio Niikawa and Naomichi Matsumoto

    Version of Record online : 3 JUN 2005, DOI: 10.1002/ajmg.a.30778

  17. Familial dup(8)(p12p21.1): Mild phenotypic effect and review of partial 8p duplications

    American Journal of Medical Genetics

    Volume 94, Issue 4, 2 October 2000, Pages: 306–310, U. Moog, J.J.M. Engelen, J.C.M. Albrechts, L.G.M. Baars and C.E.M. de Die-Smulders

    Version of Record online : 13 OCT 2000, DOI: 10.1002/1096-8628(20001002)94:4<306::AID-AJMG8>3.0.CO;2-V

  18. Molecular cytogenetic characterization of a unique and complex de novo 8p rearrangement

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 9, 1 May 2008, Pages: 1166–1172, Susanna L. Cooke, Jill K. Northup, Neena L. Champaige, William Zinser, Paul A.W. Edwards, Lillian H. Lockhart and Gopalrao V.N. Velagaleti

    Version of Record online : 26 FEB 2008, DOI: 10.1002/ajmg.a.32248

  19. Mosaic inv dup(8p) marker chromosome with stable neocentromere suggests neocentromerization is a post-zygotic event

    American Journal of Medical Genetics

    Volume 102, Issue 1, 22 July 2001, Pages: 86–94, Lucille Voullaire, Richard Saffery, Elizabeth Earle, Danielle V. Irvine, Howard Slater, Sue Dale, Desiree du Sart, Tracy Fleming and K.H. Andy Choo

    Version of Record online : 5 JUL 2001, DOI: 10.1002/1096-8628(20010722)102:1<86::AID-AJMG1390>3.0.CO;2-T

  20. A reanalysis of 409 European-Ancestry and African American schizophrenia pedigrees reveals significant linkage to 8p23.3 with evidence of locus heterogeneity

    American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

    Volume 147B, Issue 7, 5 October 2008, Pages: 1080–1088, E.G. Holliday, B.J. Mowry and D.R. Nyholt

    Version of Record online : 24 MAR 2008, DOI: 10.1002/ajmg.b.30722