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Metabolic dysfunction-associated gallstone disease: expecting more from critical care manifestations.
- Published in:
- Internal & Emergency Medicine, 2023, v. 18, n. 7, p. 1897, doi. 10.1007/s11739-023-03355-z
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- Publication type:
- Article
Impact of High-to-Moderate Penetrance Genes on Genetic Testing: Looking over Breast Cancer.
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- Genes, 2023, v. 14, n. 8, p. 1530, doi. 10.3390/genes14081530
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- Publication type:
- Article
Intraabdominal sporadic desmoid tumors and inflammation: an updated literature review and presentation and insights on pathogenesis of synchronous sporadic mesenteric desmoid tumors occurring after surgery for necrotizing pancreatitis.
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- Clinical & Experimental Medicine, 2023, v. 23, n. 3, p. 607, doi. 10.1007/s10238-022-00849-6
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- Publication type:
- Article
Renal Cell Carcinoma as a Metabolic Disease: An Update on Main Pathways, Potential Biomarkers, and Therapeutic Targets.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 22, p. 14360, doi. 10.3390/ijms232214360
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- Publication type:
- Article
Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies.
- Published in:
- Genes, Chromosomes & Cancer, 2022, v. 61, n. 11, p. 689, doi. 10.1002/gcc.23086
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- Publication type:
- Article
Clinical presentation and genetic analyses of neurofibromatosis type 1 in independent patients with monoallelic double de novo closely spaced mutations in the NF1 gene.
- Published in:
- Human Mutation, 2022, v. 43, n. 10, p. 1354, doi. 10.1002/humu.24423
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- Article
The unsolved mystery of MEFV variants variable expressivity in Familial Mediterranean Fever.
- Published in:
- 2022
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- Publication type:
- journal article
Metabolomic Approaches for Detection and Identification of Biomarkers and Altered Pathways in Bladder Cancer.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 8, p. 4173, doi. 10.3390/ijms23084173
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- Publication type:
- Article
Novel Insights into Autophagy and Prostate Cancer: A Comprehensive Review.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 7, p. 3826, doi. 10.3390/ijms23073826
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- Publication type:
- Article
Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers.
- Published in:
- Cancers, 2022, v. 14, n. 2, p. 365, doi. 10.3390/cancers14020365
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- Publication type:
- Article
Country-level factors dynamics and ABO/Rh blood groups contribution to COVID-19 mortality.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-04162-2
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- Publication type:
- Article
Distinguishing between recent balancing selection and incomplete sweep using deep neural networks.
- Published in:
- Molecular Ecology Resources, 2021, v. 21, n. 8, p. 2706, doi. 10.1111/1755-0998.13379
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- Publication type:
- Article
Oro-Dental Manifestations in a Pediatric Patient Affected by Helsmoortel-Van der Aa Syndrome.
- Published in:
- International Journal of Environmental Research & Public Health, 2021, v. 18, n. 17, p. 8957, doi. 10.3390/ijerph18178957
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- Publication type:
- Article
Neurofibromatosis type 1 and melanoma of the iris arising from a dysplastic nevus: A rare yet casual association?
- Published in:
- European Journal of Ophthalmology, 2021, v. 31, n. 3, p. NP45, doi. 10.1177/1120672120906999
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- Publication type:
- Article
Familial Mediterranean Fever and COVID-19: Friends or Foes?
- Published in:
- Frontiers in Immunology, 2020, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.574593
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- Publication type:
- Article
Gut Microbiota between Environment and Genetic Background in Familial Mediterranean Fever (FMF).
- Published in:
- Genes, 2020, v. 11, n. 9, p. 1041, doi. 10.3390/genes11091041
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- Publication type:
- Article
The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate.
- Published in:
- Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. 1, doi. 10.1186/s13052-020-00839-y
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- Publication type:
- Article
Improvement of MEFV gene variants classification to aid treatment decision making in familial Mediterranean fever.
- Published in:
- Rheumatology, 2020, v. 59, n. 4, p. 754, doi. 10.1093/rheumatology/kez332
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- Publication type:
- Article
Comment on: Improvement of MEFV gene variants classification to aid treatment decision making in familial Mediterranean fever: reply.
- Published in:
- 2020
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- Publication type:
- Letter to the Editor
The grandfather's fever.
- Published in:
- Clinical Rheumatology, 2020, v. 39, n. 2, p. 585, doi. 10.1007/s10067-019-04741-9
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- Publication type:
- Article
In-silico Analysis of NF1 Missense Variants in ClinVar: Translating Variant Predictions into Variant Interpretation and Classification.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 3, p. 721, doi. 10.3390/ijms21030721
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- Publication type:
- Article
Familial Mediterranean fever: breaking all the (genetic) rules.
- Published in:
- Rheumatology, 2019, v. 58, n. 3, p. 463, doi. 10.1093/rheumatology/key328
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- Publication type:
- Article
Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.
- Published in:
- Genes, 2018, v. 9, n. 4, p. 216, doi. 10.3390/genes9040216
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- Publication type:
- Article
Establishment and characterization of a highly immunogenic human renal carcinoma cell line.
- Published in:
- International Journal of Oncology, 2016, v. 49, n. 2, p. 457, doi. 10.3892/ijo.2016.3544
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- Publication type:
- Article
Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors.
- Published in:
- PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0123092
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- Publication type:
- Article
Negros, Mulatos, Pardos, Jarochos : Chemins et représentations du métissage des Noirs dans la région de Veracruz.
- Published in:
- Cahiers d'Histoire de l'Amerique Latine, 2013, n. 6, p. 45
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- Publication type:
- Article
Survey of KRAS, BRAF and PIK3CA mutational status in 209 consecutive Italian colorectal cancer patients.
- Published in:
- International Journal of Biological Markers, 2012, v. 27, n. 4, p. e366, doi. 10.5301/JBM.2012.9765
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- Publication type:
- Article
A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective study.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 33, doi. 10.1186/1750-1172-7-33
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- Publication type:
- Article
A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective study.
- Published in:
- 2012
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- Publication type:
- journal article
Papillary Thyroid Carcinoma in Peutz-Jeghers Syndrome.
- Published in:
- Thyroid, 2011, v. 21, n. 11, p. 1273, doi. 10.1089/thy.2011.0063
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- Publication type:
- Article
Analysis of telomere dynamics in peripheral blood cells from patients with Lynch syndrome.
- Published in:
- Cancer (0008543X), 2011, v. 117, n. 18, p. 4325, doi. 10.1002/cncr.26022
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- Publication type:
- Article
Identification and surveillance of 19 Lynch syndrome families in southern Italy: report of six novel germline mutations and a common founder mutation.
- Published in:
- Familial Cancer, 2011, v. 10, n. 2, p. 285, doi. 10.1007/s10689-011-9419-0
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- Publication type:
- Article
Synthesis and Antibacterial Evaluation of a Novel Series of 2-(1,2-Dihydro-3-oxo-3 H-pyrazol-2-yl)benzothiazoles.
- Published in:
- Chemistry & Biodiversity, 2011, v. 8, n. 2, p. 253, doi. 10.1002/cbdv.201000241
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- Publication type:
- Article
Breakpoint determination of 15 large deletions in Peutz–Jeghers subjects.
- Published in:
- Human Genetics, 2010, v. 128, n. 4, p. 373, doi. 10.1007/s00439-010-0859-7
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- Publication type:
- Article
A homozygous frameshift mutation in the ESCO2 gene: Evidence of intertissue and interindividual variation in Nmd efficiency.
- Published in:
- Journal of Cellular Physiology, 2006, v. 209, n. 1, p. 67, doi. 10.1002/jcp.20708
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- Publication type:
- Article
In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.
- Published in:
- BMC Genomics, 2006, v. 7, p. 1, doi. 10.1186/1471-2164-7-243
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- Publication type:
- Article
Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants
- Published in:
- FEBS Letters, 2005, v. 579, n. 17, p. 3770, doi. 10.1016/j.febslet.2005.05.035
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- Publication type:
- Article
An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites.
- Published in:
- Nature Structural & Molecular Biology, 2005, v. 12, n. 1, p. 54, doi. 10.1038/nsmb873
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- Publication type:
- Article
Colorectal Cancer and the Muir-Torre Syndrome in a Gypsy Family: A Review.
- Published in:
- American Journal of Gastroenterology (Springer Nature), 1999, v. 94, n. 3, p. 575, doi. 10.1111/j.1572-0241.1999.00918.x
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- Publication type:
- Article
Four novel mutations of the APC (adenomatous polyposis coli) gene in FAP patients.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 9, p. 1687
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- Publication type:
- Article