1
|
Amiel J, Sproat-Emison E, Garcia-Barcelo
M, Lantieri F, Burzynski G, Borrego S, Pelet A, Arnold S, Miao X,
Griseri P, Brooks AS, Antinolo G, de Pontual L, Clement-Ziza M,
Munnich A, Kashuk C, West K, Wong KK, Lyonnet S, Chakravarti A, Tam
PK, Ceccherini I, Hofstra RM and Fernandez R: Hirschsprung disease,
associated syndromes and genetics: a review. J Med Genet. 45:1–14.
2008. View Article : Google Scholar : PubMed/NCBI
|
2
|
Grundy D and Schemann M: Enteric nervous
system. Curr Opin Gastroenterol. 21:176–182. 2005. View Article : Google Scholar
|
3
|
Lantieri F, Griseri P and Ceccherini I:
Molecular mechanisms of RET-induced Hirschsprung pathogenesis. Ann
Med. 38:11–19. 2006. View Article : Google Scholar : PubMed/NCBI
|
4
|
Arighi E, Borrello MG and Sariola H: RET
tyrosine kinase signaling in development and cancer. Cytokine
Growth Factor Rev. 16:441–467. 2005. View Article : Google Scholar : PubMed/NCBI
|
5
|
Tam PK and Garcia-Barcelo M: Molecular
genetics of Hirschsprung's disease. Semin Pediatr Surg. 13:236–248.
2004. View Article : Google Scholar
|
6
|
Sánchez-Mejías A, Fernández RM,
López-Alonso M, Antiñolo G and Borrego S: New roles of EDNRB and
EDN3 in the pathogenesis of Hirschsprung disease. Genet Med.
12:39–43. 2010.PubMed/NCBI
|
7
|
Núñez-Torres R, Fernández RM, López-Alonso
M, Antiñolo G and Borrego S: A novel study of copy number
variations in Hirschsprung disease using the multiple
ligation-dependent probe amplification (MLPA) technique. BMC Med
Genet. 10:1192009.PubMed/NCBI
|
8
|
Pan ZW, Lou J, Luo C, Yu L and Li JC:
Association analysis of the SOX10 polymorphism with Hirschsprung
disease in the Han Chinese population. J Pediatr Surg.
46:1930–1934. 2011. View Article : Google Scholar : PubMed/NCBI
|
9
|
Fernandez RM, Ruiz-Ferrer M, Lopez-Alonso
M, Antiñolo G and Borrego S: Polymorphisms in the genes encoding
the 4 RET ligands, GDNF, NTN, ARTN, PSPN, and susceptibility to
Hirschsprung disease. J Pediatr Surg. 43:2042–2047. 2008.
View Article : Google Scholar : PubMed/NCBI
|
10
|
Kwon MJ, Lee GH, Lee MK, Kim JY, Yoo HS,
Ki CS, Chang YS, Kim JW and Park WS: PHOX2B mutations in patients
with Ondine-Hirschsprung disease and a review of the literature.
Eur J Pediatr. 170:1267–1271. 2011. View Article : Google Scholar : PubMed/NCBI
|
11
|
Jiang Q, Ho YY, Hao L, Nichols Berrios C
and Chakravarti A: Copy number variants in candidate genes are
genetic modifiers of Hirschsprung disease. PLoS One. 6:e212192011.
View Article : Google Scholar : PubMed/NCBI
|
12
|
Gregory-Evans CY, Vieira H, Dalton R,
Adams GG, Salt A and Gregory-Evans K: Ocular coloboma and high
myopia with Hirschsprung disease associated with a novel ZFHX1B
missense mutation and trisomy 21. Am J Med Genet A. 131:86–90.
2004. View Article : Google Scholar : PubMed/NCBI
|
13
|
Bai Y, Wang Z, Dai W, Li Q, Chen G, Cong
N, Guan M and Li H: A six-generation Chinese family in haplogroup
B4C1C exhibits high penetrance of 1555A > G-induced hearing
loss. BMC Med Genet. 11:1292010. View Article : Google Scholar : PubMed/NCBI
|
14
|
Ramel MC and Lekven AC: Repression of the
vertebrate organizer by Wnt8 is mediated by Vent and Vox.
Development. 131:3991–4000. 2004. View Article : Google Scholar : PubMed/NCBI
|
15
|
Martin BL and Kimelman D: Regulation of
canonical Wnt signaling by Brachyury is essential for posterior
mesoderm formation. Dev Cell. 15:121–133. 2008. View Article : Google Scholar : PubMed/NCBI
|
16
|
Baker KD, Ramel MC and Lekven AC: A direct
role for Wnt8 in ventrolateral mesoderm patterning. Dev Dyn.
239:2828–2836. 2010. View Article : Google Scholar : PubMed/NCBI
|
17
|
Erter CE, Wilm TP, Basler N, Wright CV and
Solnica-Krezel L: Wnt8 is required in lateral mesendodermal
precursors for neural posteriorization in vivo. Development.
128:3571–3583. 2001.PubMed/NCBI
|
18
|
Rhinn M, Lun K, Luz M, Werner M and Brand
M: Positioning of the midbrain-hindbrain boundary organizer through
global posteriorization of the neuroectoderm mediated by Wnt8
signaling. Development. 132:1261–1272. 2005. View Article : Google Scholar
|