Found: 51
Select item for more details and to access through your institution.
MUTYH and the mismatch repair system: partners in crime?
- Published in:
- Human Genetics, 2006, v. 119, n. 1/2, p. 206, doi. 10.1007/s00439-005-0118-5
- By:
- Publication type:
- Article
Using Out-of-Batch Reference Populations to Improve Untargeted Metabolomics for Screening Inborn Errors of Metabolism.
- Published in:
- Metabolites (2218-1989), 2021, v. 11, n. 1, p. 8, doi. 10.3390/metabo11010008
- By:
- Publication type:
- Article
Concomitant RASSF1A hypermethylation and KRAS/BRAF mutations occur preferentially in MSI sporadic colorectal cancer.
- Published in:
- Oncogene, 2005, v. 24, n. 51, p. 7630, doi. 10.1038/sj.onc.1208906
- By:
- Publication type:
- Article
BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes.
- Published in:
- Oncogene, 2005, v. 24, n. 24, p. 3995, doi. 10.1038/sj.onc.1208569
- By:
- Publication type:
- Article
Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.
- Published in:
- Human Mutation, 2020, v. 41, n. 11, p. 1906, doi. 10.1002/humu.24097
- By:
- Publication type:
- Article
Infantile hypertrophic pyloric stenosis in patients with esophageal atresia.
- Published in:
- Birth Defects Research, 2020, v. 112, n. 9, p. 670, doi. 10.1002/bdr2.1683
- By:
- Publication type:
- Article
Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 917, doi. 10.1038/ejhg.2012.35
- By:
- Publication type:
- Article
Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11).
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 4, p. 483, doi. 10.1038/ejhg.2008.191
- By:
- Publication type:
- Article
The effects of four different tyrosine kinase inhibitors on medullary and papillary thyroid cancer cells.
- Published in:
- 2011
- By:
- Publication type:
- journal article
A Novel Point Mutation in the Intracellular Domain of the ret Protooncogene in a Family with Medullary Thyroid Carcinoma.
- Published in:
- 1997
- By:
- Publication type:
- journal article
Bromocriptine Resistant Prolactinomas and Non-Functioning Pituitary Tumors: Somatic Mutational Analyses of the Dopamine Type 2 Receptor and the MENl Gene.
- Published in:
- International Journal on Disability & Human Development (De Gruyter), 2000, v. 1, n. 3, p. 149
- By:
- Publication type:
- Article
Medullary thyroid cancer in a patient with Hirschsprung disease with a C609Y germline RET-mutation.
- Published in:
- 2005
- By:
- Publication type:
- journal article
RET/PTC rearrangement is prevalent in follicular Hürthle cell carcinomas.
- Published in:
- Histopathology, 2012, v. 61, n. 5, p. 833, doi. 10.1111/j.1365-2559.2012.04276.x
- By:
- Publication type:
- Article
Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations.
- Published in:
- PLoS ONE, 2019, v. 14, n. 5, p. 1, doi. 10.1371/journal.pone.0217477
- By:
- Publication type:
- Article
Corrigendum: TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human.
- Published in:
- 2022
- By:
- Publication type:
- Correction Notice
TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human.
- Published in:
- Frontiers in Molecular Neuroscience, 2021, v. 14, p. 1, doi. 10.3389/fnmol.2021.757646
- By:
- Publication type:
- Article
ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 3, p. 571, doi. 10.1093/hmg/ddv497
- By:
- Publication type:
- Article
Correspondence: SEMA4A variation and risk of colorectal cancer.
- Published in:
- Nature Communications, 2016, v. 7, n. 3, p. 10611, doi. 10.1038/ncomms10611
- By:
- Publication type:
- Article
Chromosome 21 Scan in Down Syndrome Reveals DSCAM as a Predisposing Locus in Hirschsprung Disease
- Published in:
- PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0062519
- By:
- Publication type:
- Article
CLMP Is Essential for Intestinal Development, but Does Not Play a Key Role in Cellular Processes Involved in Intestinal Epithelial Development.
- Published in:
- PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0054649
- By:
- Publication type:
- Article
Mutations in SCG10 Are Not Involved in Hirschsprung Disease.
- Published in:
- PLoS ONE, 2010, v. 5, n. 12, p. 1, doi. 10.1371/journal.pone.0015144
- By:
- Publication type:
- Article
A New Perspective on Transcriptional System Regulation (TSR): Towards TSR Profiling.
- Published in:
- PLoS ONE, 2008, v. 3, n. 2, p. 1, doi. 10.1371/journal.pone.0001656
- By:
- Publication type:
- Article
Trans-eQTLs Reveal That Independent Genetic Variants Associated with a Complex Phenotype Converge on Intermediate Genes, with a Major Role for the HLA.
- Published in:
- PLoS Genetics, 2011, v. 7, n. 8, p. 1, doi. 10.1371/journal.pgen.1002197
- By:
- Publication type:
- Article
C. elegans Model Identifies Genetic Modifiers of α-Synuclein Inclusion Formation During Aging.
- Published in:
- PLoS Genetics, 2008, v. 4, n. 3, p. 1, doi. 10.1371/journal.pgen.1000027
- By:
- Publication type:
- Article
The entire miR-200 seed family is strongly deregulated in clear cell renal cell cancer compared to the proximal tubular epithelial cells of the kidney.
- Published in:
- Genes, Chromosomes & Cancer, 2013, v. 52, n. 2, p. 165, doi. 10.1002/gcc.22016
- By:
- Publication type:
- Article
Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome.
- Published in:
- Genes, Chromosomes & Cancer, 2009, v. 48, n. 8, p. 737, doi. 10.1002/gcc.20678
- By:
- Publication type:
- Article
Do microsatellite instability profiles really differ between colorectal and endometrial tumors?
- Published in:
- Genes, Chromosomes & Cancer, 2009, v. 48, n. 7, p. 552, doi. 10.1002/gcc.20664
- By:
- Publication type:
- Article
PMS2 involvement in patients suspected of Lynch syndrome.
- Published in:
- Genes, Chromosomes & Cancer, 2009, v. 48, n. 4, p. 322, doi. 10.1002/gcc.20642
- By:
- Publication type:
- Article
Biochemical characterization of MLH3 missense mutations does not reveal an apparent role of MLH3 in Lynch syndrome.
- Published in:
- Genes, Chromosomes & Cancer, 2009, v. 48, n. 4, p. 340, doi. 10.1002/gcc.20644
- By:
- Publication type:
- Article
Colorectal cancer and the CHEK2 1100delC mutation.
- Published in:
- Genes, Chromosomes & Cancer, 2005, v. 43, n. 4, p. 377, doi. 10.1002/gcc.20195
- By:
- Publication type:
- Article
A substantial proportion of microsatellite-unstable colon tumors carry TP53 mutations while not showing chromosomal instability.
- Published in:
- Genes, Chromosomes & Cancer, 2005, v. 43, n. 2, p. 194, doi. 10.1002/gcc.20148
- By:
- Publication type:
- Article
Investigation of the genes for RET and its ligand complex, GDNF/GFRα-1, in small cell lung carcinoma.
- Published in:
- Genes, Chromosomes & Cancer, 1998, v. 21, n. 4, p. 326, doi. 10.1002/(SICI)1098-2264(199804)21:4<326::AID-GCC6>3.0.CO;2-0
- By:
- Publication type:
- Article
MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis.
- Published in:
- Genes, Chromosomes & Cancer, 1997, v. 18, n. 4, p. 269, doi. 10.1002/(SICI)1098-2264(199704)18:4<269::AID-GCC4>3.0.CO;2-Z
- By:
- Publication type:
- Article
Two distinct mutations of the RET receptor causing Hirschsprung's disease impair the binding of signalling effectors to a multifunctional docking site.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 11, p. 1989, doi. 10.1093/hmg/8.11.1989
- By:
- Publication type:
- Article
DNA Mismatch Repair Gene Mutations in 55 Kindreds with Verified Or Putative Hereditary Non-Polyposis Colorectal Cancer.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 6, p. 763, doi. 10.1093/hmg/5.6.763
- By:
- Publication type:
- Article
Survival-related profile, pathways, and transcription factors in ovarian cancer.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Survival-Related Profile, Pathways, and Transcription Factors in Ovarian Cancer.
- Published in:
- PLoS Medicine, 2009, v. 6, n. 2, p. e1000024
- By:
- Publication type:
- Article
Mutation update on the CHD7 gene involved in CHARGE syndrome.
- Published in:
- Human Mutation, 2012, v. 33, n. 8, p. 1149, doi. 10.1002/humu.22086
- By:
- Publication type:
- Article
Inhibition of ROCK signaling pathway accelerates enteric neural crest cell‐based therapy after transplantation in a rat hypoganglionic model.
- Published in:
- Neurogastroenterology & Motility, 2020, v. 32, n. 9, p. 1, doi. 10.1111/nmo.13895
- By:
- Publication type:
- Article
A "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosa.
- Published in:
- PLoS ONE, 2018, v. 13, n. 2, p. 1, doi. 10.1371/journal.pone.0192994
- By:
- Publication type:
- Article
Pathways systematically associated to Hirschsprung's disease.
- Published in:
- 2013
- By:
- Publication type:
- journal article
The long Filamin-A isoform is required for intestinal development and motility: implications for chronic intestinal pseudo-obstruction.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 1, p. 151, doi. 10.1093/hmg/ddac199
- By:
- Publication type:
- Article
Improvements in gel composition and electrophoretic conditions for broad-range mutation analysis by denaturing gradient gel electrophoresis.
- Published in:
- Nucleic Acids Research, 1999, v. 27, n. 20, p. e29, doi. 10.1093/nar/27.20.e29
- By:
- Publication type:
- Article
Improved mutation detection in GC-rich DNA fragments by combined DGGE and CDGE.
- Published in:
- Nucleic Acids Research, 1999, v. 27, n. 15, p. e9, doi. 10.1093/nar/27.15.e9-i
- By:
- Publication type:
- Article
Improvement of fragment and primer selection for mutation detection by denaturing gradient gel electrophoresis.
- Published in:
- Nucleic Acids Research, 1998, v. 26, n. 23, p. 5432
- By:
- Publication type:
- Article
Candidate driver genes in microsatellite-unstable colorectal cancer.
- Published in:
- International Journal of Cancer, 2012, v. 130, n. 7, p. 1558, doi. 10.1002/ijc.26167
- By:
- Publication type:
- Article
<em>RET</em> Mutation Screening in Familial Cutaneous Lichen Amyloidosis and in Skin Amyloidosis Associated With Multiple Endocrine Neoplasia.
- Published in:
- Journal of Investigative Dermatology, 1996, v. 107, n. 2, p. 215, doi. 10.1111/1523-1747.ep12329651
- By:
- Publication type:
- Article
Clinical Relevance of <sup>18</sup>F-FDG PET and <sup>18</sup>F-DOPA PET in Recurrent Medullary Thyroid Carcinoma.
- Published in:
- Journal of Nuclear Medicine, 2012, v. 53, n. 12, p. 1863, doi. 10.2967/jnumed.112.105940
- By:
- Publication type:
- Article
Progressive metastatic medullary thyroid carcinoma: first- and second-line strategies.
- Published in:
- European Journal of Endocrinology, 2015, v. 172, n. 6, p. R241, doi. 10.1530/EJE-14-0726
- By:
- Publication type:
- Article
The Somatic Mutation Paradigm in Congenital Malformations: Hirschsprung Disease as a Model.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 22, p. 12354, doi. 10.3390/ijms222212354
- By:
- Publication type:
- Article