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There are 25351 results for: content related to: Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients

  1. Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients

    Human Mutation

    Volume 32, Issue 11, November 2011, Pages: 1278–1289, Tingwei Guo, Donna McDonald-McGinn, Anna Blonska, Alan Shanske, Anne S. Bassett, Eva Chow, Mark Bowser, Molly Sheridan, Frits Beemer, Koen Devriendt, Ann Swillen, Jeroen Breckpot, Maria C. Digilio, Bruno Marino, Bruno Dallapiccola, Courtney Carpenter, Xin Zheng, Jacob Johnson, Jonathan Chung, Anne Marie Higgins, Nicole Philip, Tony J. Simon, Karlene Coleman, Damian Heine-Suner, Jordi Rosell, Wendy Kates, Marcella Devoto, Elizabeth Goldmuntz, Elaine Zackai, Tao Wang, Robert Shprintzen, Beverly Emanuel, Bernice Morrow and The International Chromosome 22q11.2 Consortium

    Version of Record online : 16 SEP 2011, DOI: 10.1002/humu.21568

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    Biallelic expression of Tbx1 protects the embryo from developmental defects caused by increased receptor tyrosine kinase signaling

    Developmental Dynamics

    Volume 241, Issue 8, August 2012, Pages: 1310–1324, Subreena Simrick, Dorota Szumska, Jennifer R. Gardiner, Kieran Jones, Karun Sagar, Bernice Morrow, Shoumo Bhattacharya and M. Albert Basson

    Version of Record online : 26 JUN 2012, DOI: 10.1002/dvdy.23812

  3. The 22q11 deletion: DiGeorge and velocardiofacial syndromes and the role of TBX1

    Wiley Interdisciplinary Reviews: Developmental Biology

    Volume 2, Issue 3, May/June 2013, Pages: 393–403, Irinna Papangeli and Peter Scambler

    Version of Record online : 19 JUN 2012, DOI: 10.1002/wdev.75

  4. Developmental perspectives on copy number abnormalities of the 22q11.2 region

    Clinical Genetics

    Volume 78, Issue 3, September 2010, Pages: 201–218, TY Tan, CT Gordon, DJ Amor and PG Farlie

    Version of Record online : 23 APR 2010, DOI: 10.1111/j.1399-0004.2010.01456.x

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    Tbx1 is regulated by forkhead proteins in the secondary heart field

    Developmental Dynamics

    Volume 235, Issue 3, March 2006, Pages: 701–710, Jun Maeda, Hiroyuki Yamagishi, John McAnally, Chihiro Yamagishi and Deepak Srivastava

    Version of Record online : 27 JAN 2006, DOI: 10.1002/dvdy.20686

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    Microdeletions/duplications involving TBX1 gene in fetuses with conotruncal heart defects which are negative for 22q11.2 deletion on fluorescence in-situ hybridization

    Ultrasound in Obstetrics & Gynecology

    Volume 43, Issue 4, April 2014, Pages: 396–403, M. Chen, Y.-S. Yang, J.-C. Shih, W.-H. Lin, D.-J. Lee, Y.-S. Lin, C.-H. Chou, A. D. Cameron, N. A. Ginsberg, C.-A. Chen, M.-L. Lee and G.-C. Ma

    Version of Record online : 26 DEC 2013, DOI: 10.1002/uog.12550

  7. 22q11 Deletion Syndrome: A Role for Tbx1 in Pharynx and Cardiovascular Development

    Standard Article


    Amelie Calmont and Peter Scambler

    Published Online : 15 SEP 2010, DOI: 10.1002/9780470015902.a0006074.pub2

  8. Single nucleotide polymorphism discovery in TBX1 in individuals with and without 22q11.2 deletion syndrome

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 88, Issue 1, January 2010, Pages: 54–63, Carrie L. Heike, Jacqueline R. Starr, Mark J. Rieder, Michael L. Cunningham, Karen L. Edwards, Ian B. Stanaway and Dana C. Crawford

    Version of Record online : 30 JUL 2009, DOI: 10.1002/bdra.20604

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    ARVCF depletion cooperates with Tbx1 deficiency in the development of 22q11.2DS-like phenotypes in Xenopus

    Developmental Dynamics

    Volume 240, Issue 12, December 2011, Pages: 2680–2687, Hong Thi Tran, Mieke Delvaeye, Veerle Verschuere, Emilie Descamps, Ellen Crabbe, Luc Van Hoorebeke, Pierre McCrea, Dominique Adriaens, Frans Van Roy and Kris Vleminckx

    Version of Record online : 25 OCT 2011, DOI: 10.1002/dvdy.22765

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    Identification of putative retinoic acid target genes downstream of mesenchymal Tbx1 during inner ear development

    Developmental Dynamics

    Volume 241, Issue 3, March 2012, Pages: 563–573, Dennis C. Monks and Bernice E. Morrow

    Version of Record online : 1 FEB 2012, DOI: 10.1002/dvdy.23731

  11. Chromosomal Imbalances in Patients with Congenital Cardiac Defects: A Meta-analysis Reveals Novel Potential Critical Regions Involved in Heart Development

    Congenital Heart Disease

    Volume 10, Issue 3, May/June 2015, Pages: 193–208, Thor Thorsson, William W. Russell, Nour El-Kashlan, Rachel Soemedi, Jonathan Levine, Sarah B. Geisler, Todd Ackley, Aoy Tomita-Mitchell, Jill A. Rosenfeld, Ana Töpf, Marwan Tayeh, Judith Goodship, Jeffrey W. Innis, Bernard Keavney and Mark W. Russell

    Version of Record online : 11 APR 2014, DOI: 10.1111/chd.12179

  12. Whole-Genome Sequencing and Integrative Genomic Analysis Approach on Two 22q11.2 Deletion Syndrome Family Trios for Genotype to Phenotype Correlations

    Human Mutation

    Volume 36, Issue 8, August 2015, Pages: 797–807, Jonathan H. Chung, Jinlu Cai, Barrie G. Suskin, Zhengdong Zhang, Karlene Coleman and Bernice E. Morrow

    Version of Record online : 2 JUL 2015, DOI: 10.1002/humu.22814

  13. Phenotypic variability of atypical 22q11.2 deletions not including TBX1

    American Journal of Medical Genetics Part A

    Volume 158A, Issue 10, October 2012, Pages: 2412–2420, Judith M.A. Verhagen, Karin E.M. Diderich, Grétel Oudesluijs, Grazia M.S. Mancini, Alex J. Eggink, Anna C. Verkleij-Hagoort, Irene A.L. Groenenberg, Patrick J. Willems, Frederik A. du Plessis, Stella A. de Man, Malgorzata I. Srebniak, Diane van Opstal, Lorette O.M. Hulsman, Laura J.C.M. van Zutven and Marja W. Wessels

    Version of Record online : 14 AUG 2012, DOI: 10.1002/ajmg.a.35517

  14. Developmental trajectories in 22q11.2 deletion syndrome

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

    Volume 169, Issue 2, June 2015, Pages: 172–181, Ann Swillen and Donna McDonald-McGinn

    Version of Record online : 18 MAY 2015, DOI: 10.1002/ajmg.c.31435

  15. Chimeric Negative Regulation of p14ARF and TBX1 by a t(9;22) Translocation Associated with Melanoma, Deafness, and DNA Repair Deficiency

    Human Mutation

    Volume 34, Issue 9, September 2013, Pages: 1250–1259, Xiaohui Tan, Sarah L. Anzick, Sikandar G. Khan, Takahiro Ueda, Gary Stone, John J. DiGiovanna, Deborah Tamura, Daniel Wattendorf, David Busch, Carmen C. Brewer, Christopher Zalewski, John A. Butman, Andrew J. Griffith, Paul S. Meltzer and Kenneth H. Kraemer

    Version of Record online : 3 JUN 2013, DOI: 10.1002/humu.22354

  16. T-box genes and congenital heart/limb malformations

    Clinical Genetics

    Volume 66, Issue 4, October 2004, Page: no, D Isphording, AM Leylek, J Yeung, A Mischel and H-G Simon

    Version of Record online : 16 AUG 2004, DOI: 10.1111/j.1399-0004.2004.00314.x

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    Retinoic acid down-regulates Tbx1 expression in vivo and in vitro

    Developmental Dynamics

    Volume 232, Issue 4, April 2005, Pages: 928–938, Catherine Roberts, Sarah M. Ivins, Chela T. James and Peter J. Scambler

    Version of Record online : 25 FEB 2005, DOI: 10.1002/dvdy.20268

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    Tbx1 regulation of myogenic differentiation in the limb and cranial mesoderm

    Developmental Dynamics

    Volume 236, Issue 2, February 2007, Pages: 353–363, Akbar Dastjerdi, Lesley Robson, Rebecca Walker, Julia Hadley, Zhen Zhang, Marc Rodriguez-Niedenführ, Paris Ataliotis, Antonio Baldini, Peter Scambler and Philippa Francis-West

    Version of Record online : 20 NOV 2006, DOI: 10.1002/dvdy.21010

  19. Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome

    Developmental Disabilities Research Reviews

    Volume 14, Issue 1, 2008, Pages: 26–34, Sarah E. Prasad, Sarah Howley and Kieran C. Murphy

    Version of Record online : 24 MAR 2008, DOI: 10.1002/ddrr.5

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    Pharyngeal arch deficiencies affect taste bud development in the circumvallate papilla with aberrant glossopharyngeal nerve formation

    Developmental Dynamics

    Volume 244, Issue 7, July 2015, Pages: 874–887, Tadashi Okubo and Shinji Takada

    Version of Record online : 18 JUN 2015, DOI: 10.1002/dvdy.24289