Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11).
about
TGF-β induces TIAF1 self-aggregation via type II receptor-independent signaling that leads to generation of amyloid β plaques in Alzheimer's disease.Novel association of severe neonatal encephalopathy and Hirschsprung disease in a male with a duplication at the Xq28 region.TIAF1 self-aggregation in peritumor capsule formation, spontaneous activation of SMAD-responsive promoter in p53-deficient environment, and cell deathHirschsprung disease: a developmental disorder of the enteric nervous system.Hirschsprung's disease: clinical dysmorphology, genes, micro-RNAs, and future perspectives.Allele-specific expression at the RET locus in blood and gut tissue of individuals carrying risk alleles for Hirschsprung disease.Self-aggregating TIAF1 in lung cancer progression.L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains.Targeted Next-Generation Sequencing on Hirschsprung Disease: A Pilot Study Exploits DNA Pooling
P2860
Q30498066-EB01AC10-C1C0-404C-AE4B-1DD0E5936BAFQ33699316-ADA448BF-F571-45BA-9872-2F6E81F12B2AQ35979294-EAF7E814-B7DA-486A-B1B8-1397F2C220D1Q38116935-D02BB278-492C-4F43-9DF3-788845555746Q38800868-EAADC92A-3133-4615-BC52-0F74FA1DF122Q39188619-3728398A-9C5E-478F-9381-66AF9D78B329Q39730306-46D4B427-F942-441A-9C6A-A8D0FE4DA1D5Q39986708-75DB7954-25EE-4E03-BFBC-060D90687EB4Q57233935-F283C32B-8FCE-4664-B402-617F36D3441F
P2860
Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11).
description
2008 nî lūn-bûn
@nan
2008 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Complex pathogenesis of Hirsch ...... ranslocation t(3;17)(p12;q11).
@ast
Complex pathogenesis of Hirsch ...... ranslocation t(3;17)(p12;q11).
@en
Complex pathogenesis of Hirsch ...... ranslocation t(3;17)(p12;q11).
@nl
type
label
Complex pathogenesis of Hirsch ...... ranslocation t(3;17)(p12;q11).
@ast
Complex pathogenesis of Hirsch ...... ranslocation t(3;17)(p12;q11).
@en
Complex pathogenesis of Hirsch ...... ranslocation t(3;17)(p12;q11).
@nl
prefLabel
Complex pathogenesis of Hirsch ...... ranslocation t(3;17)(p12;q11).
@ast
Complex pathogenesis of Hirsch ...... ranslocation t(3;17)(p12;q11).
@en
Complex pathogenesis of Hirsch ...... ranslocation t(3;17)(p12;q11).
@nl
P2093
P2860
P50
P356
P1476
Complex pathogenesis of Hirsch ...... ranslocation t(3;17)(p12;q11).
@en
P2093
Giorgio Gimelli
Giuseppe Santamaria
Guendalina Mognato
Paola Griseri
Silvana Beri
Stefania Gimelli
Yvonne Vos
P2860
P2888
P304
P356
10.1038/EJHG.2008.191
P577
2008-10-29T00:00:00Z