Detalhe da pesquisa
1.
Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease.
Gastroenterology
; 155(1): 118-129.e6, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29601828
2.
Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.
Hum Mol Genet
; 25(23): 5265-5275, 2016 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27702942
3.
Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability.
Am J Hum Genet
; 96(4): 581-96, 2015 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25839327
4.
Systematic elucidation and in vivo validation of sequences enriched in hindbrain transcriptional control.
Genome Res
; 22(11): 2278-89, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22759862
5.
Pericentrosomal targeting of Rab6 secretory vesicles by Bicaudal-D-related protein 1 (BICDR-1) regulates neuritogenesis.
EMBO J
; 29(10): 1637-51, 2010 May 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-20360680
6.
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.
Am J Hum Genet
; 87(1): 60-74, 2010 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-20598273
7.
Integration of genomic and functional approaches reveals enhancers at LMX1A and LMX1B.
Mol Genet Genomics
; 288(11): 579-89, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23942840
8.
KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiation.
Hum Mol Genet
; 19(18): 3642-51, 2010 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20621975
9.
Current concepts in RET-related genetics, signaling and therapeutics.
Trends Genet
; 22(11): 627-36, 2006 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-16979782
10.
Characterization of spatial and temporal expression pattern of SCG10 during zebrafish development.
Gene Expr Patterns
; 9(4): 231-7, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19272335
11.
RET-familial medullary thyroid carcinoma mutants Y791F and S891A activate a Src/JAK/STAT3 pathway, independent of glial cell line-derived neurotrophic factor.
Cancer Res
; 65(5): 1729-37, 2005 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15753368
12.
Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2.
Eur J Hum Genet
; 12(8): 604-12, 2004 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15138456
13.
Functional variants in DPYSL2 sequence increase risk of schizophrenia and suggest a link to mTOR signaling.
G3 (Bethesda)
; 5(1): 61-72, 2014 Nov 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-25416705
14.
A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo.
PLoS One
; 5(12): e14346, 2010 Dec 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-21179557
15.
Identifying candidate Hirschsprung disease-associated RET variants.
Am J Hum Genet
; 76(5): 850-8, 2005 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-15759212
16.
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.
Am J Hum Genet
; 77(1): 120-6, 2005 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15883926