Found: 101
Select item for more details and to access through your institution.
A combinatorial panel for flow cytometry‐based isolation of enteric nervous system cells from human intestine.
- Published in:
- EMBO Reports, 2023, v. 24, n. 4, p. 1, doi. 10.15252/embr.202255789
- By:
- Publication type:
- 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
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
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
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
A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease.
- Published in:
- PLoS Genetics, 2020, v. 16, n. 11, p. 1, doi. 10.1371/journal.pgen.1009106
- 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
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
ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease.
- Published in:
- 2020
- By:
- Publication type:
- journal 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
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
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
Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.
- Published in:
- PLoS Genetics, 2017, v. 13, n. 5, p. 1, doi. 10.1371/journal.pgen.1006765
- 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
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
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
Charles Buys (1942-2014).
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 12, p. 1343, doi. 10.1038/ejhg.2014.207
- By:
- Publication type:
- Article
High Frequency of RPL22 Mutations in Microsatellite-Unstable Colorectal and Endometrial Tumors.
- Published in:
- Human Mutation, 2014, v. 35, n. 12, p. 1442, doi. 10.1002/humu.22686
- By:
- Publication type:
- Article
Pathways systematically associated to Hirschsprung's disease.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Novel no-stop FLNA mutation causes multi-organ involvement in males.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2376, doi. 10.1002/ajmg.a.36109
- By:
- Publication type:
- Article
Response to: Design of a Core Classification Process for DNA Mismatch Repair Variations of A Priori Unknown Functional Significance.
- Published in:
- Human Mutation, 2013, v. 34, n. 6, p. 923, doi. 10.1002/humu.22310
- 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
Brush border myosin Ia inactivation in gastric but not endometrial tumors.
- Published in:
- International Journal of Cancer, 2013, v. 132, n. 8, p. 1790, doi. 10.1002/ijc.27856
- 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
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
Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions.
- Published in:
- Human Mutation, 2013, v. 34, n. 1, p. 255, doi. 10.1002/humu.22214
- By:
- Publication type:
- Article
Pathological assessment of mismatch repair gene variants in Lynch syndrome: Past, present, and future.
- Published in:
- Human Mutation, 2012, v. 33, n. 12, p. 1617, doi. 10.1002/humu.22168
- 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
Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy.
- Published in:
- European Journal of Heart Failure, 2012, v. 14, n. 11, p. 1199, doi. 10.1093/eurjhf/hfs119
- By:
- Publication type:
- 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
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
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
A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.
- Published in:
- Human Mutation, 2012, v. 33, n. 8, p. 1251, doi. 10.1002/humu.22106
- By:
- Publication type:
- Article
Targeted exome sequencing in clear cell renal cell carcinoma tumors suggests aberrant chromatin regulation as a crucial step in ccRCC development.
- Published in:
- Human Mutation, 2012, v. 33, n. 7, p. 1059, doi. 10.1002/humu.22090
- 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
A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.
- Published in:
- Human Mutation, 2012, v. 33, n. 3, p. 488, doi. 10.1002/humu.22000
- By:
- Publication type:
- Article
The international dystrophic epidermolysis bullosa patient registry: An online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.
- Published in:
- Human Mutation, 2011, v. 32, n. 10, p. 1100, doi. 10.1002/humu.21551
- 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
The effects of four different tyrosine kinase inhibitors on medullary and papillary thyroid cancer cells.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Deciphering the colon cancer genes-report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010.
- Published in:
- Human Mutation, 2011, v. 32, n. 4, p. 491, doi. 10.1002/humu.21450
- 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
KBP interacts with SCG10, linking Goldberg–Shprintzen syndrome to microtubule dynamics and neuronal differentiation.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 18, p. 3642, doi. 10.1093/hmg/ddq280
- By:
- Publication type:
- Article
Screening for germline DND1 mutations in testicular cancer patients.
- Published in:
- Familial Cancer, 2010, v. 9, n. 3, p. 439, doi. 10.1007/s10689-010-9340-y
- By:
- Publication type:
- Article
Cell-free assay breakthrough for MLH1 variants.
- Published in:
- Human Mutation, 2010, v. 31, n. 3, p. v, doi. 10.1002/humu.21217
- By:
- Publication type:
- Article
An updated and upgraded L1CAM mutation database.
- Published in:
- 2010
- By:
- Publication type:
- Other
TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset.
- Published in:
- Familial Cancer, 2009, v. 8, n. 4, p. 383, doi. 10.1007/s10689-009-9251-y
- By:
- Publication type:
- Article
A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy.
- Published in:
- 2009
- By:
- Publication type:
- Other
Mononucleotide precedes dinucleotide repeat instability during colorectal tumour development in Lynch syndrome patients.
- Published in:
- Journal of Pathology, 2009, v. 219, n. 1, p. 96, doi. 10.1002/path.2573
- 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