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There are 6171 results for: content related to: 8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients

  1. 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

    Article first published online : 12 FEB 2013, DOI: 10.1002/ajmg.a.35596

  2. 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

    Article first published online : 13 DEC 2005, DOI: 10.1002/ajmg.a.31036

  3. 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

    Article first published online : 19 NOV 2012, DOI: 10.1002/ajmg.a.35665

  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

    Article first published online : 13 JUN 2002, DOI: 10.1002/ajmg.10584

  5. 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

    Article first published online : 15 JUL 2009, DOI: 10.1002/ajmg.a.32896

  6. 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

    Article first published online : 14 DEC 2012, DOI: 10.1002/ajmg.a.35690

  7. 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

    Article first published online : 18 NOV 2003, DOI: 10.1046/j.1399-0004.2003.00189.x

  8. 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

    Article first published online : 5 JUN 2007, DOI: 10.1111/j.1478-3231.2007.01504.x

  9. 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

    Article first published online : 9 MAY 2008, DOI: 10.1002/ajmg.a.32095

  10. 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

    Article first published online : 8 FEB 2006, DOI: 10.1002/gcc.20314

  11. 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

    Article first published online : 3 JUN 2005, DOI: 10.1002/ajmg.a.30778

  12. 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

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

  13. 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

    Article first published online : 4 APR 2008, DOI: 10.1002/ajmg.a.32205

  14. 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

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

  15. 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

    Article first published online : 24 MAR 2008, DOI: 10.1002/ajmg.b.30722

  16. Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders

    Clinical Genetics

    Volume 76, Issue 4, October 2009, Pages: 348–356, HM Ozgen, E Van Daalen, PF Bolton, VK Maloney, S Huang, L Cresswell, MJ Van Den Boogaard, MJ Eleveld, R Van‘t Slot, R Hochstenbach, FA Beemer, M Barrow, JCK Barber and M Poot

    Article first published online : 24 SEP 2009, DOI: 10.1111/j.1399-0004.2009.01254.x

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    Allelic imbalances and homozygous deletion on 8p23.2 for stepwise progression of hepatocarcinogenesis

    Hepatology

    Volume 49, Issue 2, February 2009, Pages: 513–522, Yutaka Midorikawa, Shogo Yamamoto, Shingo Tsuji, Naoko Kamimura, Shumpei Ishikawa, Hisaki Igarashi, Masatoshi Makuuchi, Norihiro Kokudo, Haruhiko Sugimura and Hiroyuki Aburatani

    Article first published online : 24 OCT 2008, DOI: 10.1002/hep.22698

  18. 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

    Article first published online : 22 APR 2004, DOI: 10.1002/ajmg.a.30063

  19. Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridia

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 11, November 2012, Pages: 2905–2910, Milena Simioni, Társis Paiva Vieira, Ilária Cristina Sgardioli, Érika Lopes Freitas, Carla Rosenberg, Cláudia Vianna Maurer-Morelli, Iscia Lopes-Cendes, Agnes Cristina Fett-Conte and Vera Lúcia Gil-da-Silva-Lopes

    Article first published online : 18 SEP 2012, DOI: 10.1002/ajmg.a.35603

  20. Molecular cytogenetic characterization and genotype/phenotype analysis in a patient with a de novo 8p23.2p23.3 deletion/12p13.31p13.33 duplication

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 7, July 2012, Pages: 1713–1718, Lucia Margari, Maria Luisa Di Cosola, Maura Buttiglione, Angela Pansini, Antonia Lucia Buonadonna, Francesco Craig, Filomena Cariola, Maria Giuseppina Petruzzelli and Mattia Gentile

    Article first published online : 25 MAY 2012, DOI: 10.1002/ajmg.a.35400