Literature DB >> 12960220

Single nucleotide polymorphic alleles in the 5' region of the RET proto-oncogene define a risk haplotype in Hirschsprung's disease.

M Sancandi, P Griseri, B Pesce, G Patrone, F Puppo, M Lerone, G Martucciello, G Romeo, R Ravazzolo, M Devoto, I Ceccherini.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2003        PMID： 12960220      PMCID： PMC1735579          DOI： 10.1136/jmg.40.9.714

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


× No keyword cloud information.
  16 in total

Review 1.  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 2.  Multiple endocrine neoplasia syndromes, children, Hirschsprung's disease and RET.

Authors:  S W Moore; M G Zaahl
Journal:  Pediatr Surg Int       Date:  2008-03-26       Impact factor: 1.827

3.  A novel susceptibility locus for Hirschsprung's disease maps to 4q31.3-q32.3.

Authors:  A S Brooks; P A Leegwater; G M Burzynski; P J Willems; B de Graaf; I van Langen; P Heutink; B A Oostra; R M W Hofstra; A M Bertoli-Avella
Journal:  J Med Genet       Date:  2006-07       Impact factor: 6.318

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.  Mutations and polymorphisms of Hirschsprung disease candidate genes in Thai patients.

Authors:  Surasak Sangkhathat; Takeshi Kusafuka; Piyawan Chengkriwate; Sakda Patrapinyokul; Burapat Sangthong; Masahiro Fukuzawa
Journal:  J Hum Genet       Date:  2006-09-29       Impact factor: 3.172

6.  Identifying candidate Hirschsprung disease-associated RET variants.

Authors:  Grzegorz M Burzynski; Ilja M Nolte; Agnes Bronda; Krista K Bos; Jan Osinga; Ivan Plaza Menacho; Bas Twigt; Saskia Maas; Alice S Brooks; Joke B G M Verheij; Charles H C M Buys; Robert M W Hofstra
Journal:  Am J Hum Genet       Date:  2005-03-09       Impact factor: 11.025

7.  Induction of RET dependent and independent pro-inflammatory programs in human peripheral blood mononuclear cells from Hirschsprung patients.

Authors:  Marta Rusmini; Paola Griseri; Francesca Lantieri; Ivana Matera; Kelly L Hudspeth; Alessandra Roberto; Joanna Mikulak; Stefano Avanzini; Valentina Rossi; Girolamo Mattioli; Vincenzo Jasonni; Roberto Ravazzolo; William J Pavan; Alessio Pini-Prato; Isabella Ceccherini; Domenico Mavilio
Journal:  PLoS One       Date:  2013-03-18       Impact factor: 3.240

8.  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

9.  Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.

Authors:  Maria-Mercè Garcia-Barcelo; Clara Sze-Man Tang; Elly Sau-Wai Ngan; Vincent Chi-Hang Lui; Yan Chen; Man-Ting So; Thomas Yuk-Yu Leon; Xiao-Ping Miao; Cathy Ka-Yee Shum; Feng-Qin Liu; Ming-Yiu Yeung; Zhen-Wei Yuan; Wei-Hong Guo; Lei Liu; Xiao-Bing Sun; Liu-Ming Huang; Jin-Fa Tou; You-Qiang Song; Danny Chan; Kenneth M C Cheung; Kenneth Kak-Yuen Wong; Stacey S Cherny; Pak-Chung Sham; Paul Kwong-Hang Tam
Journal:  Proc Natl Acad Sci U S A       Date:  2009-02-05       Impact factor: 11.205

10.  Location, location, (ChIP-)location! Mapping chromatin landscapes one immunoprecipitation at a time.

Authors:  Benjamin P Berman; Baruch Frenkel; Gerhard A Coetzee
Journal:  J Cell Biochem       Date:  2009-05-01       Impact factor: 4.429
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.