Literature DB >> 11565556

A novel mutation in the endothelin B receptor gene in a patient with Shah-Waardenburg syndrome and Down syndrome.

J P Boardman, P Syrris, S E Holder, N J Robertson, N Carter, K Lakhoo.   

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Year:  2001        PMID: 11565556      PMCID: PMC1734930          DOI: 10.1136/jmg.38.9.646

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


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  6 in total

Review 1.  Advances in understanding the association between Down syndrome and Hirschsprung disease (DS-HSCR).

Authors:  S W Moore
Journal:  Pediatr Surg Int       Date:  2018-09-14       Impact factor: 1.827

2.  Novel mutations of endothelin-B receptor gene in Pakistani patients with Waardenburg syndrome.

Authors:  Raheela Jabeen; Masroor Ellahi Babar; Jamil Ahmad; Ali Raza Awan
Journal:  Mol Biol Rep       Date:  2011-05-06       Impact factor: 2.316

3.  Novel mutation of Endothelin-B receptor gene in Waardenburg-Hirschsprung disease.

Authors:  Surasak Sangkhathat; Piyawan Chiengkriwate; Takeshi Kusafuka; Sakda Patrapinyokul; Masahiro Fukuzawa
Journal:  Pediatr Surg Int       Date:  2005-10-20       Impact factor: 1.827

4.  Genetic background strongly modifies the severity of symptoms of Hirschsprung disease, but not hearing loss in rats carrying Ednrb(sl) mutations.

Authors:  Ruihua Dang; Daisuke Torigoe; Sari Suzuki; Yoshiaki Kikkawa; Kanako Moritoh; Nobuya Sasaki; Takashi Agui
Journal:  PLoS One       Date:  2011-09-07       Impact factor: 3.240

5.  QTL analysis identifies a modifier locus of aganglionosis in the rat model of Hirschsprung disease carrying Ednrb(sl) mutations.

Authors:  Ruihua Dang; Daisuke Torigoe; Nobuya Sasaki; Takashi Agui
Journal:  PLoS One       Date:  2011-11-22       Impact factor: 3.240

6.  Brain size reductions associated with endothelin B receptor mutation, a cause of Hirschsprung's disease.

Authors:  Ko-Chin Chen; Zan-Min Song; Geoffrey D Croaker
Journal:  BMC Neurosci       Date:  2021-06-19       Impact factor: 3.288

  6 in total

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