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There are 11565 results for: content related to: Allele-Specific Expression at the RET Locus in Blood and Gut Tissue of Individuals Carrying Risk Alleles for H irschsprung Disease

  1. Multiple Functional Effects of RET Kinase Domain Sequence Variants in Hirschsprung Disease

    Human Mutation

    Volume 34, Issue 1, January 2013, Pages: 132–142, Brandy D. Hyndman, Taranjit S. Gujral, Jonathan R. Krieger, Jessica G. Cockburn and Lois M. Mulligan

    Version of Record online : 23 AUG 2012, DOI: 10.1002/humu.22170

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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. 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

  4. 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

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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

  6. 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

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    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

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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

  10. 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

  11. Mutational analysis of RET/GDNF/NTN genes in children with total colonic aganglionosis with small bowel involvement

    American Journal of Medical Genetics

    Volume 93, Issue 4, 14 August 2000, Pages: 278–284, Kyoko Inoue, Takashi Shimotake and Naomi Iwai

    Version of Record online : 11 AUG 2000, DOI: 10.1002/1096-8628(20000814)93:4<278::AID-AJMG5>3.0.CO;2-Q

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    Haplotypes of the Human RET Proto-oncogene Associated with Hirschsprung Disease in the Italian Population Derive from a Single Ancestral Combination of Alleles

    Annals of Human Genetics

    Volume 70, Issue 1, January 2006, Pages: 12–26, F. Lantieri, P. Griseri, F. Puppo, R. Campus, G. Martucciello, R. Ravazzolo, M. Devoto and I. Ceccherini

    Version of Record online : 14 JUN 2005, DOI: 10.1111/j.1529-8817.2005.00196.x

  13. Interaction of RET proto-oncogene codon 609 germline mutations with RET haplotypes characterized by c.135G>A alleles modifying MEN 2A or HSCR phenotypes

    American Journal of Medical Genetics Part A

    Volume 129A, Issue 3, 1 September 2004, Pages: 323–325, Guido Fitze, Matthias Schreiber, Werner Hohenberger, Hans Peter Hümmer, Dietmar Roesner and Hans K. Schackert

    Version of Record online : 20 JUL 2004, DOI: 10.1002/ajmg.a.30230

  14. The developmental genetics of Hirschsprung's disease

    Clinical Genetics

    Volume 83, Issue 1, January 2013, Pages: 15–22, K-F Bergeron, DW Silversides and N Pilon

    Version of Record online : 7 NOV 2012, DOI: 10.1111/cge.12032

  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

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    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

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    Analysis of RET, ZEB2, EDN3 and GDNF Genomic Rearrangements in 80 Patients with Hirschsprung Disease (Using multiplex ligation-dependent probe amplification)

    Annals of Human Genetics

    Volume 73, Issue 2, March 2009, Pages: 147–151, A. Serra, H. Görgens, K. Alhadad, A. Ziegler, G. Fitze and H. K. Schackert

    Version of Record online : 28 JAN 2009, DOI: 10.1111/j.1469-1809.2008.00503.x

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    Evaluation of the Thyroid Transcription Factor-1 Gene (TITF1) as a Hirschsprung's Disease Locus

    Annals of Human Genetics

    Volume 71, Issue 6, November 2007, Pages: 746–754, Maria-Mercè Garcia-Barceló, Danny Ko-chun Lau, Elly Sau-wai Ngan, Thomas Yuk-yu Leon, Ting-ting Liu, Man-ting So, Xiao-ping Miao, Vincent Chi-hang Lui, Kenneth Kak-yuen Wong, Raymond William Ganster, Daniel Thomas Cass, Geoffrey David Hain Croaker and Paul Kwong-hang Tam

    Version of Record online : 19 JUL 2007, DOI: 10.1111/j.1469-1809.2007.00384.x

  19. RET receptor signaling: Dysfunction in thyroid cancer and Hirschsprung's disease

    Pathology International

    Volume 56, Issue 4, April 2006, Pages: 164–172, Naoya Asai, Mayumi Jijiwa, Atsushi Enomoto, Kumi Kawai, Kengo Maeda, Masatoshi Ichiahara, Yoshiki Murakumo and Masahide Takahashi

    Version of Record online : 30 MAR 2006, DOI: 10.1111/j.1440-1827.2006.01942.x

  20. Disruption of long-distance highly conserved noncoding elements in neurocristopathies

    Annals of the New York Academy of Sciences

    Volume 1214, Issue 1, December 2010, Pages: 34–46, Jeanne Amiel, Sabina Benko, Christopher T. Gordon and Stanislas Lyonnet

    Version of Record online : 22 DEC 2010, DOI: 10.1111/j.1749-6632.2010.05878.x