Literature DB >> 14627689

Chinese patients with sporadic Hirschsprung's disease are predominantly represented by a single RET haplotype.

M-M Garcia-Barceló, M-H Sham, V C-H Lui, B L-S Chen, Y-Q Song, W-S Lee, S-K Yung, G Romeo, P K-H Tam.   

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Year:  2003        PMID： 14627689      PMCID： PMC1735300          DOI： 10.1136/jmg.40.11.e122

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  20 in total

1.  Role of RET and PHOX2B gene polymorphisms in risk of Hirschsprung's disease in Chinese population.

Authors:  Xiaoping Miao; Maria-Mercè Garcia-Barceló; Man-ting So; Thomas Yuk-yu Leon; Danny Ko-chun Lau; Ting-Ting Liu; Edwin Kin-Wai Chan; Lawrence Chuen-Leung Lan; Kenneth Kak-yuen Wong; Vincent Chi-hang Lui; Paul Kwong-hang Tam
Journal:  Gut       Date:  2007-05       Impact factor: 23.059

2.  RET polymorphisms and the risk of Hirschsprung's disease in a Chinese population.

Authors:  Cuiping Liu; Lei Jin; Hui Li; Jintu Lou; Chunfen Luo; Xuewu Zhou; Ji-Cheng Li
Journal:  J Hum Genet       Date:  2008-07-08       Impact factor: 3.172

Review 3.  Genetic basis of Hirschsprung's disease.

Authors:  Paul K H Tam; Mercè Garcia-Barceló
Journal:  Pediatr Surg Int       Date:  2009-06-12       Impact factor: 1.827

Review 4.  Genetic modifiers and oligogenic inheritance.

Authors:  Maria Kousi; Nicholas Katsanis
Journal:  Cold Spring Harb Perspect Med       Date:  2015-06-01       Impact factor: 6.915

5.  Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.

Authors:  Eileen Sproat Emison; Merce Garcia-Barcelo; Elizabeth A Grice; Francesca Lantieri; Jeanne Amiel; Grzegorz Burzynski; Raquel M Fernandez; Li Hao; Carl Kashuk; Kristen West; Xiaoping Miao; Paul K H Tam; Paola Griseri; Isabella Ceccherini; Anna Pelet; Anne-Sophie Jannot; Loic de Pontual; Alexandra Henrion-Caude; Stanislas Lyonnet; Joke B G M Verheij; Robert M W Hofstra; Guillermo Antiñolo; Salud Borrego; Andrew S McCallion; Aravinda Chakravarti
Journal:  Am J Hum Genet       Date:  2010-07-09       Impact factor: 11.025

6.  RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling.

Authors:  Titis Widowati; Shamiram Melhem; Suryono Y Patria; Bianca M de Graaf; Richard J Sinke; Martijn Viel; Jos Dijkhuis; Ahmad H Sadewa; Rochadi Purwohardjono; Yati Soenarto; Robert Mw Hofstra; Yunia Sribudiani
Journal:  Eur J Hum Genet       Date:  2015-09-23       Impact factor: 4.246

7.  Low RET mutation frequency and polymorphism analysis of the RET and EDNRB genes in patients with Hirschsprung disease in Taiwan.

Authors:  Trang-Tiau Wu; Tsui-Wei Tsai; Chao-Ta Chu; Zen-Fung Lee; Chuan-Mao Hung; Ching-Chyuan Su; Shuan-Yow Li; Mingli Hsieh; Chuan Li
Journal:  J Hum Genet       Date:  2005-04-15       Impact factor: 3.172

8.  Effect of RET c.2307T>G Polymorphism on the Outcomes of Posterior Sagittal Neurectomy for Hirschsprung Disease Procedure in Indonesian Population.

Authors:  Sophia Mubarika Haryana; Ahmad Hamim Sadewa
Journal:  Int Surg       Date:  2014 Nov-Dec

9.  Fine mapping of the 9q31 Hirschsprung's disease locus.

Authors:  C S Tang; Y Sribudiani; X P Miao; A R de Vries; G Burzynski; M T So; Y Y Leon; B H Yip; J Osinga; K J W S Hui; J B G M Verheij; S S Cherny; P K H Tam; P C Sham; R M W Hofstra; M M Garcia-Barceló
Journal:  Hum Genet       Date:  2010-04-02       Impact factor: 4.132

10.  Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population.

Authors:  Belinda K Cornes; Clara S Tang; Thomas Y Y Leon; Kenneth J W S Hui; Man-Ting So; Xiaoping Miao; Stacey S Cherny; Pak C Sham; Paul K H Tam; Maria-Merce Garcia-Barcelo
Journal:  PLoS One       Date:  2010-06-02       Impact factor: 3.240
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