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A Novel Genetic Variant in the WFS1 Gene in a Patient with Partial Uniparental Mero-Isodisomy of Chromosome 4.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 15, p. 8082, doi. 10.3390/ijms22158082
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- Article
Pro-Fibrotic Phenotype in a Patient with Segmental Stiff Skin Syndrome via TGF-β Signaling Overactivation.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 14, p. 5141, doi. 10.3390/ijms21145141
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- Article
Addendum: Palmieri, O. et al. Functional Implications of MicroRNAs in Crohn's Disease Revealed by Integrating MicroRNA and Messenger RNA Expression Profiling. Int. J. Mol. Sci. 2017, 18, 1580.
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- 2017
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- Publication type:
- Correction Notice
Functional Implications of MicroRNAs in Crohn's Disease Revealed by Integrating MicroRNA and Messenger RNA Expression Profiling.
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- International Journal of Molecular Sciences, 2017, v. 18, n. 7, p. 1580, doi. 10.3390/ijms18071580
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- Publication type:
- Article
Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus.
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- PLoS Genetics, 2019, v. 15, n. 3, p. 1, doi. 10.1371/journal.pgen.1008075
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- Publication type:
- Article
1q23.1 homozygous deletion and downregulation of Fc receptor-like family genes confer poor prognosis in chronic lymphocytic leukemia.
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- Clinical & Experimental Medicine, 2019, v. 19, n. 2, p. 261, doi. 10.1007/s10238-019-00551-0
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- Publication type:
- Article
A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome.
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- Human Genetics, 2022, v. 141, n. 2, p. 217, doi. 10.1007/s00439-021-02403-y
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- Publication type:
- Article
A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype.
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- Journal of Human Genetics, 2015, v. 60, n. 6, p. 287, doi. 10.1038/jhg.2015.29
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- Publication type:
- Article
Compound Heterozygosity for OTOA Truncating Variant and Genomic Rearrangement Cause Autosomal Recessive Sensorineural Hearing Loss in an Italian Family.
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- Audiology Research, 2021, v. 11, n. 3, p. 443, doi. 10.3390/audiolres11030041
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- Publication type:
- Article
Multifaceted enrichment analysis of RNA-RNA crosstalk reveals cooperating micro-societies in human colorectal cancer.
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- Nucleic Acids Research, 2016, v. 44, n. 9, p. 4025, doi. 10.1093/nar/gkw245
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- Publication type:
- Article
Genomic organization and evolution of double minutes/homogeneously staining regions with MYC amplification in human cancer.
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- Nucleic Acids Research, 2014, v. 42, n. 14, p. 9131, doi. 10.1093/nar/gku590
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- Publication type:
- Article
Overexpression of the cohesin-core subunit SMC1A contributes to colorectal cancer development.
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- Journal of Experimental & Clinical Cancer Research (17569966), 2019, v. 38, n. 1, p. N.PAG, doi. 10.1186/s13046-019-1116-0
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- Publication type:
- Article
Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 391, doi. 10.1002/ajmg.a.38559
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- Article
Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1922, doi. 10.1002/ajmg.a.38253
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- Publication type:
- Article
Maternal uniparental isodisomy (iUPD) of chromosome 4 in a subject with mild intellectual disability and speech delay.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2219, doi. 10.1002/ajmg.a.37142
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- Publication type:
- Article
Microdeletion of 12q24.31: Report of a girl with intellectual disability, stereotypies, seizures and facial dysmorphisms.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 438, doi. 10.1002/ajmg.a.36872
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- Publication type:
- Article
TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 828, doi. 10.1002/ajmg.a.36363
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- Publication type:
- Article
Giant breast tumors in a patient with Beckwith-Wiedemann syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 182, doi. 10.1002/ajmg.a.36191
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- Publication type:
- Article
An emerging phenotype of interstitial 15q25.2 microdeletions: Clinical report and review.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3182, doi. 10.1002/ajmg.a.35631
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- Publication type:
- Article
Spontaneous remission in a Diamond‐Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation.
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- British Journal of Haematology, 2019, v. 185, n. 5, p. 994, doi. 10.1111/bjh.15688
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- Publication type:
- Article
A rare but recurrent t(8;13)(q24;q14) translocation in B-cell chronic lymphocytic leukaemia causing MYC up-regulation and concomitant loss of PVT1, miR-15/16 and DLEU7.
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- British Journal of Haematology, 2016, v. 172, n. 2, p. 296, doi. 10.1111/bjh.13482
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- Publication type:
- Article
7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages.
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- Nature Genetics, 2015, v. 47, n. 2, p. 132, doi. 10.1038/ng.3169
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- Publication type:
- Article
Large intragenic deletion of CDC73 (exons 4–10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family.
- Published in:
- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0445-0
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- Publication type:
- Article
t(15;21) translocations leading to the concurrent downregulation of RUNX1 and its transcription factor partner genes SIN3A and TCF12 in myeloid disorders.
- Published in:
- Molecular Cancer, 2015, v. 14, n. 1, p. 1, doi. 10.1186/s12943-015-0484-0
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- Publication type:
- Article
Gene expression of muscular and neuronal pathways is cooperatively dysregulated in patients with idiopathic achalasia.
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- Scientific Reports, 2016, p. 31549, doi. 10.1038/srep31549
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- Publication type:
- Article
Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances.
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- Clinical Epigenetics, 2022, v. 14, p. 1, doi. 10.1186/s13148-022-01292-w
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- Publication type:
- Article
A MiRNA Signature for Defining Aggressive Phenotype and Prognosis in Gliomas.
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- PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0108950
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- Publication type:
- Article
Evaluation of Genome-Wide Expression Profiles of Blood and Sputum Neutrophils in Cystic Fibrosis Patients Before and After Antibiotic Therapy.
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- PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0104080
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- Publication type:
- Article
Genome-Wide Analysis of Differentially Expressed Genes and Splicing Isoforms in Clear Cell Renal Cell Carcinoma.
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- PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0078452
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- Publication type:
- Article
Differences in Gene Expression and Cytokine Release Profiles Highlight the Heterogeneity of Distinct Subsets of Adipose Tissue-Derived Stem Cells in the Subcutaneous and Visceral Adipose Tissue in Humans.
- Published in:
- PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0057892
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- Publication type:
- Article
Mirna Expression Profiles Identify Drivers in Colorectal and Pancreatic Cancers.
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- PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0033663
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- Publication type:
- Article
Extracellular vesicle microRNAs contribute to Notch signaling pathway in T-cell acute lymphoblastic leukemia.
- Published in:
- Molecular Cancer, 2022, v. 21, n. 1, p. 1, doi. 10.1186/s12943-022-01698-3
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- Publication type:
- Article
Co-Occurrence of Beckwith–Wiedemann Syndrome and Early-Onset Colorectal Cancer.
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- Cancers, 2023, v. 15, n. 7, p. 1944, doi. 10.3390/cancers15071944
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- Publication type:
- Article
Ouabain and Digoxin Activate the Proteasome and the Degradation of the ERα in Cells Modeling Primary and Metastatic Breast Cancer.
- Published in:
- Cancers, 2020, v. 12, n. 12, p. 3840, doi. 10.3390/cancers12123840
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- Publication type:
- Article
Both Epimutations and Chromosome Aberrations Affect Multiple Imprinted Loci in Aggressive Wilms Tumors.
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- Cancers, 2020, v. 12, n. 11, p. 3411, doi. 10.3390/cancers12113411
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- Publication type:
- Article
Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.
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- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1025, doi. 10.1038/ejhg.2014.237
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- Publication type:
- Article
Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits.
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- European Journal of Human Genetics, 2014, v. 22, n. 1, p. 64, doi. 10.1038/ejhg.2013.101
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- Publication type:
- Article
BEAT: Bioinformatics Exon Array Tool to store, analyze and visualize Affymetrix GeneChip Human Exon Array data from disease experiments.
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- BMC Bioinformatics, 2012, v. 13, n. Suppl 4, p. 1, doi. 10.1186/1471-2105-13-S4-S21
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- Publication type:
- Article
Genome-Wide Gene Expression Analysis of Mtb-Infected DC Highlights the Rapamycin-Driven Modulation of Regulatory Cytokines via the mTOR/GSK-3β Axis.
- Published in:
- Frontiers in Immunology, 2021, v. 11, p. N.PAG, doi. 10.3389/fimmu.2021.649475
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- Publication type:
- Article
Association of CSF and PET markers of neurodegeneration with electroclinical progression in Lafora disease.
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- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1202971
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- Article
Electro-clinical features and management of the late stage of Lafora disease.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.969297
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- Publication type:
- Article
Copy number variation analysis implicates novel pathways in patients with oculo‐auriculo‐vertebral‐spectrum and congenital heart defects.
- Published in:
- Clinical Genetics, 2021, v. 100, n. 3, p. 268, doi. 10.1111/cge.13994
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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
Long QT syndrome in chromosome 7q35q36.3 deletion involving KCNH2 gene: Warning for chlorpheniramine prescription.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 9, p. N.PAG, doi. 10.1002/mgg3.855
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- Publication type:
- Article
Developmental Coordination Disorder in a Patient with Mental Disability and a Mild Phenotype Carrying Terminal 6q26-qter Deletion.
- Published in:
- Frontiers in Genetics, 2017, p. 1, doi. 10.3389/fgene.2017.00206
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- Publication type:
- Article
microRNA‐mRNA network model in patients with achalasia.
- Published in:
- Neurogastroenterology & Motility, 2020, v. 32, n. 3, p. 1, doi. 10.1111/nmo.13764
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- Publication type:
- Article
The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith–Wiedemann syndrome and Silver–Russell syndrome cases.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 1, p. 10, doi. 10.1093/hmg/ddr419
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- Publication type:
- Article
The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype.
- Published in:
- Clinical Epigenetics, 2019, v. 11, n. 1, p. 1, doi. 10.1186/s13148-019-0760-8
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- Publication type:
- Article
Clinical and molecular characterization of a de novo 19p13.3 microdeletion.
- Published in:
- 2016
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- Publication type:
- Case Study
Neurological features of 14q24-q32 interstitial deletion: report of a new case.
- Published in:
- 2015
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- Publication type:
- Case Study