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There are 13836 results for: content related to: Multiple Functional Effects of RET Kinase Domain Sequence Variants in Hirschsprung Disease

  1. Allele-Specific Expression at the RET Locus in Blood and Gut Tissue of Individuals Carrying Risk Alleles for Hirschsprung Disease

    Human Mutation

    Volume 34, Issue 5, May 2013, Pages: 754–762, Ivana Matera, Marco Musso, Paola Griseri, Marta Rusmini, Marco Di Duca, Man-ting So, Domenico Mavilio, Xiaoping Miao, Paul HK Tam, Roberto Ravazzolo, Isabella Ceccherini and Merce Garcia-Barcelo

    Version of Record online : 15 MAR 2013, DOI: 10.1002/humu.22302

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    Advances in Molecular Genetics of Hirschsprung's Disease

    The Anatomical Record

    Volume 295, Issue 10, October 2012, Pages: 1628–1638, Zhi-Wen Pan and Ji-Cheng Li

    Version of Record online : 19 JUL 2012, DOI: 10.1002/ar.22538

  3. You have full text access to this OnlineOpen article
    Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome

    Human Mutation

    Volume 39, Issue 2, February 2018, Pages: 219–236, Simona Di Lascio, Roberta Benfante, Eleonora Di Zanni, Silvia Cardani, Annalisa Adamo, Diego Fornasari, Isabella Ceccherini and Tiziana Bachetti

    Version of Record online : 21 NOV 2017, DOI: 10.1002/humu.23365

  4. You have full text access to this OnlineOpen article
    SLIT2/ROBO1-miR-218-1-RET/PLAG1: a new disease pathway involved in Hirschsprung's disease

    Journal of Cellular and Molecular Medicine

    Volume 19, Issue 6, June 2015, Pages: 1197–1207, Weibing Tang, Junwei Tang, Jun He, Zhigang Zhou, Yufeng Qin, Jingjing Qin, Bo Li, Xiaoqun Xu, Qiming Geng, Weiwei Jiang, Wei Wu, Xinru Wang and Yankai Xia

    Version of Record online : 19 MAR 2015, DOI: 10.1111/jcmm.12454

  5. An Impairment of Long Distance SOX10 Regulatory Elements Underlies Isolated Hirschsprung Disease

    Human Mutation

    Volume 35, Issue 3, March 2014, Pages: 303–307, Laure Lecerf, Anthula Kavo, Macarena Ruiz-Ferrer, Viviane Baral, Yuli Watanabe, Asma Chaoui, Veronique Pingault, Salud Borrego and Nadege Bondurand

    Version of Record online : 8 JAN 2014, DOI: 10.1002/humu.22499

  6. Familial form of Hirschsprung disease: Nucleotide sequence studies reveal point mutations in the RET proto-oncogene in two of six families but not in other candidate genes

    American Journal of Medical Genetics

    Volume 94, Issue 1, 4 September 2000, Pages: 19–27, Marc Munnes, Sepideh Fanaei, Birgit Schmitz, Indrikis Muiznieks, Alexander M. Holschneider and Walter Doerfler

    Version of Record online : 6 SEP 2000, DOI: 10.1002/1096-8628(20000904)94:1<19::AID-AJMG5>3.0.CO;2-K

  7. Studying the genetics of Hirschsprung's disease: unraveling an oligogenic disorder

    Clinical Genetics

    Volume 67, Issue 1, January 2005, Pages: 6–14, AS Brooks, BA Oostra and RMW Hofstra

    Version of Record online : 21 SEP 2004, DOI: 10.1111/j.1399-0004.2004.00319.x

  8. Hirschsprung disease: a developmental disorder of the enteric nervous system

    Wiley Interdisciplinary Reviews: Developmental Biology

    Volume 2, Issue 1, January/February 2013, Pages: 113–129, Sonja J. McKeown, Lincon Stamp, Marlene M. Hao and Heather M. Young

    Version of Record online : 24 APR 2012, DOI: 10.1002/wdev.57

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    Evaluation of the NK2 Homeobox 1 Gene (NKX2-1) as a Hirschsprung's Disease Locus THIS ARTICLE HAS BEEN RETRACTED

    Annals of Human Genetics

    Volume 72, Issue 2, March 2008, Pages: 170–177, M.-M. Garcia-Barceló, D. K. Lau, E. S. Ngan, T. Y. Leon, T. Liu, M. So, X. Miao, V. C. Lui, K. K. Wong, R. W. Ganster, D. T. Cass, G. D. H. Croaker and P. K. Tam

    Version of Record online : 13 DEC 2007, DOI: 10.1111/j.1469-1809.2007.00403.x

  10. Genetic model system studies of the development of the enteric nervous system, gut motility and Hirschsprung’s disease

    Neurogastroenterology & Motility

    Volume 21, Issue 2, February 2009, Pages: 113–127, G. Burzynski, I. T. Shepherd and H. Enomoto

    Version of Record online : 22 JAN 2009, DOI: 10.1111/j.1365-2982.2008.01256.x

  11. You have full text access to this OnlineOpen article
    Ret receptor tyrosine kinase sustains proliferation and tissue maturation in intestinal epithelia

    The EMBO Journal

    Volume 36, Issue 20, 16 October 2017, Pages: 3029–3045, Daniel Perea, Jordi Guiu, Bruno Hudry, Chrysoula Konstantinidou, Alexandra Milona, Dafni Hadjieconomou, Thomas Carroll, Nina Hoyer, Dipa Natarajan, Jukka Kallijärvi, James A Walker, Peter Soba, Nikhil Thapar, Alan J Burns, Kim B Jensen and Irene Miguel-Aliaga

    Version of Record online : 12 SEP 2017, DOI: 10.15252/embj.201696247

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    The RET proto-oncogene induces apoptosis: a novel mechanism for Hirschsprung disease

    The EMBO Journal

    Volume 19, Issue 15, August 1, 2000, Pages: 4056–4063, Marie-Claire Bordeaux, Christelle Forcet, Laure Granger, Véronique Corset, Christelle Bidaud, Marc Billaud, Dale E. Bredesen, Patrick Edery and Patrick Mehlen

    Version of Record online : 1 AUG 2000, DOI: 10.1093/emboj/19.15.4056

  13. You have full text access to this OnlineOpen article
    Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma

    Human Mutation

    Volume 38, Issue 12, December 2017, Pages: 1621–1648, Luís Cardoso, Mark Stevenson and Rajesh V. Thakker

    Version of Record online : 25 SEP 2017, DOI: 10.1002/humu.23337

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    Analysis of RET, ZEB2, EDN3 and GDNF Genomic Rearrangements in Central Congenital Hyperventilation Syndrome Patients by Multiplex Ligation-dependent Probe Amplification

    Annals of Human Genetics

    Volume 74, Issue 4, July 2010, Pages: 369–374, Alexandre Serra, Heike Görgens, Karin Alhadad, Guido Fitze and Hans K. Schackert

    Version of Record online : 25 APR 2010, DOI: 10.1111/j.1469-1809.2010.00577.x

  15. Building a brain in the gut: development of the enteric nervous system

    Clinical Genetics

    Volume 83, Issue 4, April 2013, Pages: 307–316, AM Goldstein, RMW Hofstra and AJ Burns

    Version of Record online : 27 NOV 2012, DOI: 10.1111/cge.12054

  16. Etiopathological aspects of achalasia: lessons learned with Hirschsprung's disease

    Diseases of the Esophagus

    Volume 25, Issue 6, August 2012, Pages: 566–572, H. R. Gockel, I. Gockel, C. C. Schimanski, F. Schier, J. Schumacher, M. M. Nöthen, H. Lang, M. Müller, A. J. Eckardt and V. F. Eckardt

    Version of Record online : 2 NOV 2011, DOI: 10.1111/j.1442-2050.2011.01277.x

  17. Expression Variability and Function of the RET Gene in Adult Peripheral Blood Mononuclear Cells

    Journal of Cellular Physiology

    Volume 229, Issue 12, December 2014, Pages: 2027–2037, Marta Rusmini, Paola Griseri, Ivana Matera, Elena Pontarini, Roberto Ravazzolo, Domenico Mavilio and Isabella Ceccherini

    Version of Record online : 27 AUG 2014, DOI: 10.1002/jcp.24660

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    Correlation Between Genetic Variations in Hox Clusters and Hirschsprung's Disease

    Annals of Human Genetics

    Volume 71, Issue 4, July 2007, Pages: 526–536, M. M. Garcia-Barceló, X. Miao, V. C. H. Lui, M. T. So, E. S. W. Ngan, T. Y. Y. Leon, D. K. C. Lau, T. T. Liu, X. Lao, W. Guo, W. T. Holden, J. Moore and P. K. H. Tam

    Version of Record online : 2 FEB 2007, DOI: 10.1111/j.1469-1809.2007.00347.x

  19. Compound effect of PHOX2B and RET gene variants in congenital central hypoventilation syndrome combined with Hirschsprung disease

    American Journal of Medical Genetics Part A

    Volume 146A, Issue 11, 1 June 2008, Pages: 1486–1489, Guido Fitze, Inke R. König, Ekkehart Paditz, Alexandre Serra, Marianne Schläfke, Dietmar Roesner, Andreas Ziegler and Hans K. Schackert

    Version of Record online : 25 APR 2008, DOI: 10.1002/ajmg.a.32300

  20. Functional analyses of RET mutations in Chinese hirschsprung disease patients

    Birth Defects Research Part A: Clinical and Molecular Teratology

    Volume 94, Issue 1, January 2012, Pages: 47–51, Thomas Y.Y. Leon, Man-Ting So, Vincent C.H. Lui, Robert M.W. Hofstra, Paul K.H. Tam, Elly S.W. Ngan and Maria-Mercè Garcia-Barceló

    Version of Record online : 1 DEC 2011, DOI: 10.1002/bdra.22863