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There are 4399 results for: content related to: Microarray based analysis of 3p25-p26 deletions (3p- syndrome)

  1. Genetic aspects of atrioventricular septal defects

    American Journal of Medical Genetics

    Volume 97, Issue 4, Winter 2000, Pages: 289–296, Mary Ella M. Pierpont, Roger R. Markwald and Angela E. Lin

    Version of Record online : 9 MAY 2001, DOI: 10.1002/1096-8628(200024)97:4<289::AID-AJMG1279>3.0.CO;2-U

  2. Analysis of CRELD1 as a candidate 3p25 atrioventicular septal defect locus (AVSD2)

    Clinical Genetics

    Volume 67, Issue 6, June 2005, Pages: 526–528, M Zatyka, M Priestley, E J Ladusans, A E Fryer, J Mason, F Latif and E R Maher

    Version of Record online : 31 MAR 2005, DOI: 10.1111/j.1399-0004.2005.00435.x

  3. CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome

    American Journal of Medical Genetics Part A

    Volume 140A, Issue 22, 15 November 2006, Pages: 2501–2505, Cheryl L. Maslen, Darcie Babcock, Susan W. Robinson, Lora J. H. Bean, Kenneth J. Dooley, Virginia L. Willour and Stephanie L. Sherman

    Version of Record online : 11 OCT 2006, DOI: 10.1002/ajmg.a.31494

  4. You have full text access to this OnlineOpen article
    Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 6, June 2012, Pages: 1279–1284, James R. Priest, Santhosh Girirajan, Tiffany H. Vu, Aaron Olson, Evan E. Eichler and Michael A. Portman

    Version of Record online : 23 APR 2012, DOI: 10.1002/ajmg.a.35315

  5. 3p25.3 microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior

    American Journal of Medical Genetics Part A

    Volume 164, Issue 12, December 2014, Pages: 3061–3068, Nicola Dikow, Bianca Maas, Stephanie Karch, Martin Granzow, Johannes W.G. Janssen, Anna Jauch, Katrin Hinderhofer, Christian Sutter, Susanne Schubert-Bast, Britt Marie Anderlid, Bruno Dallapiccola, Nathalie Van der Aa and Ute Moog

    Version of Record online : 24 SEP 2014, DOI: 10.1002/ajmg.a.36761

  6. Polymorphic haplotypes of CRELD1 differentially predispose Down syndrome and euploids individuals to atrioventricular septal defect

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 11, November 2012, Pages: 2843–2848, Priyanka Ghosh, Pranami Bhaumik, Sujoy Ghosh, Umut Ozbek, Eleanor Feingold, Cheryl Maslen, Biswanath Sarkar, Vishmadeb Pramanik, Priyanka Biswas, Biswajit Bandyopadhyay and Subrata Kumar Dey

    Version of Record online : 14 SEP 2012, DOI: 10.1002/ajmg.a.35626

  7. Microdeletion on 3p25 in a patient with features of 3p deletion syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 10, October 2012, Pages: 2583–2586, Iskra T. Peltekova, Athen Macdonald and Christine M. Armour

    Version of Record online : 17 AUG 2012, DOI: 10.1002/ajmg.a.35559

  8. Evaluation of Risk Factors for Prediction of Outcome in Fetal Spectrum of Atrioventricular Septal Defects

    Congenital Heart Disease

    Volume 9, Issue 4, July/August 2014, Pages: 286–293, Rima S. Bader, Rajesh Punn and Norman H. Silverman

    Version of Record online : 19 SEP 2013, DOI: 10.1111/chd.12136

  9. Atrioventricular Septal Defects

    Pediatric Cardiovascular Medicine, Second Edition

    Stuart Berger, Peter J. Bartz, David E. Saudek, John T. Hambrook, James S. Tweddell, Pages: 308–327, 2012

    Published Online : 13 JAN 2012, DOI: 10.1002/9781444398786.ch22

  10. Descriptive study of nonsyndromic atrioventricular septal defects in the National Birth Defects Prevention Study, 1997–2005

    American Journal of Medical Genetics Part A

    Volume 155, Issue 3, March 2011, Pages: 555–564, Robert J. Hartman, Tiffany Riehle-Colarusso, Angela Lin, Jaime L. Frías, Sonali S. Patel, Kara Duwe, Adolfo Correa, Sonja A. Rasmussen and The National Birth Defects Prevention Study

    Version of Record online : 18 FEB 2011, DOI: 10.1002/ajmg.a.33874

  11. Atrioventricular septal defects: Possible etiologic differences between complete and partial defects

    Teratology

    Volume 63, Issue 2, February 2001, Pages: 87–93, Christopher A. Loffredo, Jeffrey Hirata, P. David Wilson, Charlotte Ferencz and Iosif W. Lurie

    Version of Record online : 22 FEB 2001, DOI: 10.1002/1096-9926(200102)63:2<87::AID-TERA1014>3.0.CO;2-5

  12. Molecular characterization and clinical features of a patient with an interstitial deletion of 3p25.3-p26.1

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 12, December 2010, Pages: 3110–3114, Cecilia Gunnarsson and Cathrine Foyn Bruun

    Version of Record online : 16 NOV 2010, DOI: 10.1002/ajmg.a.33353

  13. 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

  14. Types and distribution of congenital heart defects associated with trisomy 21 in Singapore

    Journal of Paediatrics and Child Health

    Volume 49, Issue 3, March 2013, Pages: 223–227, Monica Tan, Cunzhi Xu, Sarah KR Sim, Adeline LH Seow, Teng Hong Tan and Swee Chye Quek

    Version of Record online : 26 FEB 2013, DOI: 10.1111/jpc.12129

  15. Specific association of missense mutations in CRELD1 with cardiac atrioventricular septal defects in heterotaxy syndrome

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 8, August 2012, Pages: 2047–2049, Samaneh Zhian, John Belmont and Cheryl L. Maslen

    Version of Record online : 27 JUN 2012, DOI: 10.1002/ajmg.a.35457

  16. Genetic factors in non-syndromic congenital heart malformations

    Clinical Genetics

    Volume 78, Issue 2, August 2010, Pages: 103–123, MW Wessels and PJ Willems

    Version of Record online : 17 MAY 2010, DOI: 10.1111/j.1399-0004.2010.01435.x

  17. Analysis of selected maternal exposures and non-syndromic atrioventricular septal defects in the National Birth Defects Prevention Study, 1997–2005.

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 10, October 2012, Pages: 2447–2455, Sonali S. Patel, Trudy L. Burns, Lorenzo D. Botto, Tiffany J. Riehle-Colarusso, Angela E. Lin, Gary M. Shaw, Paul A. Romitti and the National Birth Defects Prevention Study

    Version of Record online : 17 AUG 2012, DOI: 10.1002/ajmg.a.35555

  18. Usefulness of Live/Real Time Three-Dimensional Transthoracic Echocardiography in the Assessment of Atrioventricular Septal Defects

    Echocardiography

    Volume 23, Issue 7, August 2006, Pages: 598–608, Anurag Singh, Robb L. Romp, Navin C. Nanda, Sanjay Rajdev, Farhat Mehmood, Oben Baysan, Vinod Patel and Kurt Duncan

    Version of Record online : 26 JUL 2006, DOI: 10.1111/j.1540-8175.2006.00268.x

  19. You have free access to this content
    Prenatal detection of heart defects in a non-selected population of 30 149 fetuses—detection rates and outcome

    Ultrasound in Obstetrics & Gynecology

    Volume 27, Issue 3, March 2006, Pages: 252–265, E. Tegnander, W. Williams, O. J. Johansen, H.-G. K. Blaas and S. H. Eik-Nes

    Version of Record online : 2 FEB 2006, DOI: 10.1002/uog.2710

  20. Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome

    Genetic Epidemiology

    Volume 34, Issue 6, September 2010, Pages: 613–623, Adam E. Locke, Kenneth J. Dooley, Stuart W. Tinker, Soo Yeon Cheong, Eleanor Feingold, Emily G. Allen, Sallie B. Freeman, Claudine P. Torfs, Clifford L. Cua, Michael P. Epstein, Michael C. Wu, Xihong Lin, George Capone, Stephanie L. Sherman and Lora J.H. Bean

    Version of Record online : 17 AUG 2010, DOI: 10.1002/gepi.20518