Found: 46
Select item for more details and to access through your institution.
In Situ Analyses of Placental Inflammatory Response to SARS-CoV-2 Infection in Cases of Mother–Fetus Vertical Transmission.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 16, p. 8825, doi. 10.3390/ijms25168825
- By:
- Publication type:
- Article
Violence against Women and Stress-Related Disorders: Seeking for Associated Epigenetic Signatures, a Pilot Study.
- Published in:
- Healthcare (2227-9032), 2023, v. 11, n. 1, p. 173, doi. 10.3390/healthcare11020173
- By:
- Publication type:
- Article
Granular cell tumor of the neurohypophysis presenting as a third ventricle mass.
- Published in:
- Neuropathology, 2023, v. 43, n. 6, p. 472, doi. 10.1111/neup.12907
- By:
- Publication type:
- Article
TP53, p14<sup>ARF</sup>, p16<sup>INK4a</sup> and H-ras gene molecular analysis in intestinal-type adenocarcinoma of the nasal cavity and paranasal sinuses.
- Published in:
- International Journal of Cancer, 2003, v. 105, n. 2, p. 196, doi. 10.1002/ijc.11062
- By:
- Publication type:
- Article
A Rare Case of Urinary Bladder Hamartoma Clinically Mimicking an Urothelial Carcinoma: A Case Report and Review of the Literature.
- Published in:
- International Journal of Surgical Pathology, 2023, v. 31, n. 8, p. 1572, doi. 10.1177/10668969231159314
- By:
- Publication type:
- Article
X Monosomy in Female Systemic Lupus Erythematosus.
- Published in:
- Annals of the New York Academy of Sciences, 2007, v. 1110, p. 84, doi. 10.1196/annals.1423.010
- By:
- Publication type:
- Article
ESX1 mRNA expression in seminal fluid is an indicator of residual spermatogenesis in non-obstructive azoospermic men.
- Published in:
- Human Reproduction, 2014, v. 29, n. 12, p. 2620, doi. 10.1093/humrep/deu261
- By:
- Publication type:
- Article
Triple-Negative Essential Thrombocythemia: Clinical-Pathological and Molecular Features. A Single-Center Cohort Study.
- Published in:
- Frontiers in Oncology, 2021, v. 11, p. N.PAG, doi. 10.3389/fonc.2021.637116
- By:
- Publication type:
- Article
Liquid biopsy in non-small cell lung cancer: a meta-analysis of state-of-the-art and future perspectives.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1254839
- By:
- Publication type:
- Article
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.
- Published in:
- Clinical Epigenetics, 2016, v. 8, p. 1, doi. 10.1186/s13148-016-0183-8
- By:
- Publication type:
- Article
Molecular profiling of lung cancer specimens and liquid biopsies using MALDI-TOF mass spectrometry.
- Published in:
- Diagnostic Pathology, 2018, v. 13, p. 1, doi. 10.1186/s13000-017-0683-7
- By:
- Publication type:
- Article
Vacuolar Proton-Translocating ATPase May Take Part in the Drug Resistance Phenotype of Glioma Stem Cells.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 5, p. 2743, doi. 10.3390/ijms25052743
- By:
- Publication type:
- Article
Correction: Rondinone et al. Extensive Placental Methylation Profiling in Normal Pregnancies. Int. J. Mol. Sci. 2021, 22 , 2136.
- Published in:
- 2022
- By:
- Publication type:
- Correction Notice
Clinical and Molecular Diagnosis of Beckwith-Wiedemann Syndrome with Single- or Multi-Locus Imprinting Disturbance.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 7, p. 3445, doi. 10.3390/ijms22073445
- By:
- Publication type:
- Article
Extensive Placental Methylation Profiling in Normal Pregnancies.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 2136, doi. 10.3390/ijms22042136
- By:
- Publication type:
- Article
Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases.
- Published in:
- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0470-z
- By:
- Publication type:
- Article
Preferential X Chromosome Inactivation as a Mechanism to Explain Female Preponderance in Myasthenia Gravis.
- Published in:
- Genes, 2022, v. 13, n. 4, p. 696, doi. 10.3390/genes13040696
- By:
- Publication type:
- Article
DNA Methylation in the Diagnosis of Monogenic Diseases.
- Published in:
- Genes, 2020, v. 11, n. 4, p. 355, doi. 10.3390/genes11040355
- By:
- Publication type:
- Article
Role of epigenetics in human aging and longevity: genome-wide DNA methylation profile in centenarians and centenarians' offspring.
- Published in:
- Age, 2013, v. 35, n. 5, p. 1961, doi. 10.1007/s11357-012-9463-1
- By:
- Publication type:
- Article
Fragile X syndrome: a review of clinical and molecular diagnoses.
- Published in:
- Italian Journal of Pediatrics, 2017, v. 43, p. 1, doi. 10.1186/s13052-017-0355-y
- By:
- Publication type:
- Article
Mental health and the effects on methylation of stress-related genes in front-line versus other health care professionals during the second wave of COVID-19 pandemic: an Italian pilot study.
- Published in:
- European Archives of Psychiatry & Clinical Neuroscience, 2023, v. 273, n. 2, p. 347, doi. 10.1007/s00406-022-01472-y
- By:
- Publication type:
- Article
A miRNome analysis of drug-free manic psychotic bipolar patients versus healthy controls.
- Published in:
- European Archives of Psychiatry & Clinical Neuroscience, 2020, v. 270, n. 7, p. 893, doi. 10.1007/s00406-019-01057-2
- By:
- Publication type:
- Article
The Genetic Landscape of Human Glioblastoma and Matched Primary Cancer Stem Cells Reveals Intratumour Similarity and Intertumour Heterogeneity.
- Published in:
- Stem Cells International, 2019, p. 1, doi. 10.1155/2019/2617030
- By:
- Publication type:
- Article
A HS6ST2 gene variant associated with X‐linked intellectual disability and severe myopia in two male twins.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 3, p. 368, doi. 10.1111/cge.13485
- By:
- Publication type:
- Article
DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E).
- Published in:
- 2019
- By:
- Publication type:
- case study
Prognostic value of preoperative von Willebrand factor plasma levels in patients with Glioblastoma.
- Published in:
- Cancer Medicine, 2016, v. 5, n. 8, p. 1783, doi. 10.1002/cam4.747
- By:
- Publication type:
- Article
Profound alterations of the chromatin architecture at chromosome 11p15.5 in cells from Beckwith-Wiedemann and Silver-Russell syndromes patients.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-65082-1
- By:
- Publication type:
- Article
Differential signature of the centrosomal MARK4 isoforms in glioma.
- Published in:
- Analytical Cellular Pathology: Cellular Oncology, 2011, v. 34, n. 6, p. 319, doi. 10.1155/2011/206756
- By:
- Publication type:
- Article
Genetic Polymorphisms and Sepsis in Premature Neonates.
- Published in:
- PLoS ONE, 2014, v. 9, n. 7, p. 1, doi. 10.1371/journal.pone.0101248
- By:
- Publication type:
- Article
Delineating the Cytogenomic and Epigenomic Landscapes of Glioma Stem Cell Lines.
- Published in:
- PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0057462
- By:
- Publication type:
- Article
Misbehaviour of XIST RNA in Breast Cancer Cells.
- Published in:
- PLoS ONE, 2009, v. 4, n. 5, p. 1, doi. 10.1371/journal.pone.0005559
- By:
- Publication type:
- Article
MassARRAY-based simultaneous detection of hotspot somatic mutations and recurrent fusion genes in papillary thyroid carcinoma: the PTC-MA assay.
- Published in:
- Endocrine (1355008X), 2018, v. 61, n. 1, p. 36, doi. 10.1007/s12020-017-1483-2
- By:
- Publication type:
- Article
Cohesin Mutations Induce Chromatin Conformation Perturbation of the H19 / IGF2 Imprinted Region and Gene Expression Dysregulation in Cornelia de Lange Syndrome Cell Lines.
- Published in:
- Biomolecules (2218-273X), 2021, v. 11, n. 11, p. 1622, doi. 10.3390/biom11111622
- By:
- Publication type:
- Article
MV1035 Overcomes Temozolomide Resistance in Patient-Derived Glioblastoma Stem Cell Lines.
- Published in:
- Biology (2079-7737), 2022, v. 11, n. 1, p. 70, doi. 10.3390/biology11010070
- By:
- Publication type:
- Article
Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Revertant mosaicism for family mutations is not observed in BRCA1/2 phenocopies.
- Published in:
- PLoS ONE, 2017, v. 12, n. 2, p. 1, doi. 10.1371/journal.pone.0171663
- By:
- Publication type:
- Article
Angiotensin-Converting Enzyme and Adducin-1 Polymorphisms in Women With Preeclampsia and Gestational Hypertension.
- Published in:
- Reproductive Sciences, 2009, v. 16, n. 9, p. 819, doi. 10.1177/1933719109336612
- By:
- Publication type:
- Article
New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene.
- Published in:
- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2350-15-52
- By:
- Publication type:
- Article
The Classification of Myeloproliferative Neoplasms: Rationale, Historical Background and Future Perspectives with Focus on Unclassifiable Cases.
- Published in:
- Cancers, 2021, v. 13, n. 22, p. 5666, doi. 10.3390/cancers13225666
- By:
- Publication type:
- Article
Analysis of BRCA1 and RAD51C Promoter Methylation in Italian Families at High-Risk of Breast and Ovarian Cancer.
- Published in:
- Cancers, 2020, v. 12, n. 4, p. 910, doi. 10.3390/cancers12040910
- By:
- Publication type:
- Article
Constitutive BRCA1 Promoter Hypermethylation Can Be a Predisposing Event in Isolated Early-Onset Breast Cancer.
- Published in:
- Cancers, 2019, v. 11, n. 1, p. 58, doi. 10.3390/cancers11010058
- By:
- Publication type:
- Article
Impact of Mutation Density and Heterogeneity on Papillary Thyroid Cancer Clinical Features and Remission Probability.
- Published in:
- Thyroid, 2019, v. 29, n. 2, p. 237, doi. 10.1089/thy.2018.0339
- By:
- Publication type:
- Article
Beckwith-Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene.
- Published in:
- Application of Clinical Genetics, 2014, v. 7, p. 169, doi. 10.2147/TACG.S35474
- By:
- Publication type:
- Article
A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 6, p. 1427, doi. 10.1002/ajmg.a.38704
- By:
- Publication type:
- Article
STAR syndrome plus: The first description of a female patient with the lethal form.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3226, doi. 10.1002/ajmg.a.38484
- By:
- Publication type:
- Article
(Epi)genetic profiling of extraembryonic and postnatal tissues from female monozygotic twins discordant for Beckwith–Wiedemann syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1386
- By:
- Publication type:
- Article