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There are 10953 results for: content related to: Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks

  1. 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

  2. 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

  3. A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 12, December 2012, Pages: 3137–3147, Cammon B. Arrington, Steven B. Bleyl, Nori Matsunami, Neil E. Bowles, Tami I. Leppert, Bradley L. Demarest, Karen Osborne, Bradley A. Yoder, Janice L. Byrne, Joshua D. Schiffman, Donald M. Null, Robert DiGeronimo, Michael Rollins, Roger Faix, Jessica Comstock, Nicola J. Camp, Mark F. Leppert, H. Joseph Yost and Luca Brunelli

    Version of Record online : 19 NOV 2012, DOI: 10.1002/ajmg.a.35664

  4. Prenatal diagnosis of two fetuses with deletions of 8p23.1, critical region for congenital diaphragmatic hernia and heart defects

    American Journal of Medical Genetics Part A

    Volume 161, Issue 7, July 2013, Pages: 1755–1758, Elisabeth A. Keitges, Romela Pasion, Rachel D. Burnside, Carla Mason, Antonio Gonzalez-Ruiz, Teresa Dunn, Meredith Masiello, Joseph A. Gebbia, Carlos O. Fernandez and Hiba Risheg

    Version of Record online : 21 MAY 2013, DOI: 10.1002/ajmg.a.35965

  5. 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

  6. 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

  7. 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

  8. 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

  9. A duplication including GATA4 does not co-segregate with congenital heart defects

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 5, May 2009, Pages: 1062–1066, Irene C. Joziasse, Jasper J. van der Smagt, Martin Poot, Ron Hochstenbach, Marcel R. Nelen, Marielle van Gijn, Dennis Dooijes, Barbara J.M. Mulder and Pieter A. Doevendans

    Version of Record online : 7 APR 2009, DOI: 10.1002/ajmg.a.32769

  10. You have free access to this content
    Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH)

    Prenatal Diagnosis

    Volume 30, Issue 12-13, December 2010, Pages: 1198–1206, Kasemsri Srisupundit, Paul D. Brady, Koenraad Devriendt, Jean-Pierre Fryns, Rogelio Cruz-Martinez, Eduard Gratacos, Jan A. Deprest and Joris R. Vermeesch

    Version of Record online : 10 NOV 2010, DOI: 10.1002/pd.2651

  11. Decreased Expression of GATA4 in the Diaphragm of Nitrofen-Induced Congenital Diaphragmatic Hernia

    Birth Defects Research Part B: Developmental and Reproductive Toxicology

    Volume 98, Issue 2, April 2013, Pages: 139–143, Jens Dingemann, Takashi Doi, Jan-Hendrik Gosemann, Elke Maria Ruttenstock, Nana Nakazawa and Prem Puri

    Version of Record online : 19 FEB 2013, DOI: 10.1002/bdrb.21037

  12. Inherited duplication, dup (8) (p23.1p23.1) pat, in a father and daughter with congenital heart defects

    American Journal of Medical Genetics

    Volume 104, Issue 1, 15 November 2001, Pages: 79–80, Shelley J. Kennedy, Ahmad S. Teebi, Ian Adatia and Ikuko Teshima

    Version of Record online : 1 NOV 2001, DOI: 10.1002/1096-8628(20011115)104:1<79::AID-AJMG1598>3.0.CO;2-T

  13. Screening and biochemical analysis of GATA4 sequence variations identified in patients with congenital heart disease

    American Journal of Medical Genetics Part A

    Volume 143A, Issue 8, 15 April 2007, Pages: 817–823, Marie K. Schluterman, Amanda E. Krysiak, Irfan S. Kathiriya, Nicola Abate, Manisha Chandalia, Srivastava Deepak and Vidu Garg

    Version of Record online : 12 MAR 2007, DOI: 10.1002/ajmg.a.31652

  14. Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 145C, Issue 2, 15 May 2007, Pages: 158–171, Barbara R. Pober

    Version of Record online : 13 APR 2007, DOI: 10.1002/ajmg.c.30126

  15. Congenital diaphragmatic hernia (CDH) etiology as revealed by pathway genetics

    American Journal of Medical Genetics Part C: Seminars in Medical Genetics

    Volume 145C, Issue 2, 15 May 2007, Pages: 217–226, Sibel Kantarci and Patricia K. Donahoe

    Version of Record online : 13 APR 2007, DOI: 10.1002/ajmg.c.30132

  16. Identification of novel candidate gene loci and increased sex chromosome aneuploidy among infants with conotruncal heart defects

    American Journal of Medical Genetics Part A

    Volume 164, Issue 2, February 2014, Pages: 397–406, Kazutoyo Osoegawa, David M. Iovannisci, Bin Lin, Christina Parodi, Kathleen Schultz, Gary M. Shaw and Edward J. Lammer

    Version of Record online : 11 OCT 2013, DOI: 10.1002/ajmg.a.36291

  17. Noncompaction of the left ventricular myocardium in a boy with a novel chromosome 8p23.1 deletion

    American Journal of Medical Genetics Part A

    Volume 155, Issue 9, September 2011, Pages: 2215–2220, Joshua J. Blinder, Hugo R. Martinez, William J. Craigen, John Belmont, Ricardo H. Pignatelli and John L. Jefferies

    Version of Record online : 10 AUG 2011, DOI: 10.1002/ajmg.a.34129

  18. A Series of supernumerary small ring marker autosomes identified by FISH with chromosome probe arrays and literature review excluding chromosome 15

    American Journal of Medical Genetics Part A

    Volume 117A, Issue 3, 15 March 2003, Pages: 212–222, Art Daniel and Paul Malafiej

    Version of Record online : 3 FEB 2003, DOI: 10.1002/ajmg.a.10100

  19. You have free access to this content
    Development of the diaphragm – a skeletal muscle essential for mammalian respiration

    The FEBS Journal

    Volume 280, Issue 17, September 2013, Pages: 4026–4035, Allyson J. Merrell and Gabrielle Kardon

    Version of Record online : 7 MAY 2013, DOI: 10.1111/febs.12274

  20. Molecular Genetics of Congenital Diaphragmatic Hernia

    Standard Article

    eLS

    Mauro Longoni, Meaghan K Russell and Barbara R Pober

    Published Online : 15 JUL 2014, DOI: 10.1002/9780470015902.a0024313